Inpp5d^m2Btlr
Chemically induced Allele Detail

Summary

• Symbol: Inpp5d^m2Btlr
• Name: inositol polyphosphate-5-phosphatase D; mutation 2, Bruce Beutler
• MGI ID: MGI:5607764
• Synonyms: orange
• Gene: Inpp5d Location: Chr1:87548034-87648229 bp, + strand Genetic Position: Chr1, 44.44 cM, cytoband C5
• Alliance: Inpp5d^m2Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: The molecular lesion is a G to A transition at base pair 87697546 (v38) on chromosome 1 or base pair 77,235 in the GenBank genomic region NC_000067. RT-PCR of blood mRNA using primers within exon 10 and exon 14 yielded two Inpp5d PCR amplicons from the homozygous orange mouse, compared to a single amplicon from the wild-type mouse. Sequence analysis determined that the cDNA amplified from orange blood contained a 197-base pair deletion corresponding to exon 12 (of 27 total exons) in the cDNA transcript ENSMUST00000169754, indicating that the orange mutation abolishes the function of the intron 12 donor splice site. Aberrant splicing results in skipping of exon 12 and the out of frame deletion of the 65 amino acids (amino acids 418-482) encoded by exon 12, resulting in coding of a premature stop codon within exon 13 (amino acid 436 in the wild-type protein). (J:216053)
• Inheritance: Recessive

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Inpp5d Mutation: 93 strains or lines available

References

• Original: J:216053 Zeng M, et al., Mutagenetix entry for orange. Updated December 19, 2014. MGI Direct Data Submission. 2014
• All: 1 reference(s)