Incidental Mutation 'IGL01322:Olfr1427'
ID74093
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1427
Ensembl Gene ENSMUSG00000067525
Gene Nameolfactory receptor 1427
SynonymsMOR239-4, GA_x6K02T2RE5P-2458473-2457538
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock #IGL01322
Quality Score
Status
Chromosome19
Chromosomal Location12098006-12103334 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 12099405 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 78 (V78G)
Ref Sequence ENSEMBL: ENSMUSP00000150457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087825] [ENSMUST00000215374] [ENSMUST00000216069]
Predicted Effect probably benign
Transcript: ENSMUST00000087825
AA Change: V78G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000085127
Gene: ENSMUSG00000067525
AA Change: V78G

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 1.4e-47 PFAM
Pfam:7tm_1 41 304 6.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215374
AA Change: V78G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000216069
AA Change: V78G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000216845
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,439,199 L368Q probably damaging Het
Abca2 T A 2: 25,446,782 probably null Het
Ano7 T A 1: 93,395,508 V497D probably benign Het
B4gat1 T C 19: 5,040,009 Y345H probably damaging Het
Bckdha T A 7: 25,658,707 R12W possibly damaging Het
Bcl7c T A 7: 127,707,436 N93Y probably damaging Het
Cc2d2a C A 5: 43,689,003 T368K probably benign Het
Chek1 G A 9: 36,718,421 Q210* probably null Het
Chrdl2 A G 7: 100,017,041 Y56C probably damaging Het
Cspg4 T A 9: 56,898,588 F2228I probably damaging Het
Dnah7a T C 1: 53,434,046 M3474V probably benign Het
Dph7 T C 2: 24,965,617 S143P possibly damaging Het
Ehbp1 T A 11: 22,089,636 K821N probably damaging Het
Eomes T C 9: 118,484,830 S648P probably benign Het
Fam20a A G 11: 109,682,912 V215A probably damaging Het
Fer1l4 T A 2: 156,020,339 probably null Het
Frem2 A G 3: 53,541,038 V2319A probably benign Het
Gtf3c4 T C 2: 28,833,572 D575G probably benign Het
Ifit1bl2 A G 19: 34,619,004 V404A probably benign Het
Kcnf1 T C 12: 17,175,348 M291V probably benign Het
Klra1 T A 6: 130,364,261 I250F probably benign Het
Klra4 T A 6: 130,062,022 T136S probably benign Het
Mcrs1 A T 15: 99,243,385 I399N probably damaging Het
Neo1 T C 9: 58,907,085 E866G possibly damaging Het
Notch3 T C 17: 32,144,471 D1206G probably damaging Het
Olfr1443 A C 19: 12,680,749 I214L probably benign Het
Olfr290 T A 7: 84,916,382 V201E probably damaging Het
Olfr299 T A 7: 86,466,272 I287N probably damaging Het
Olfr479 A G 7: 108,054,981 probably benign Het
Olfr800 A G 10: 129,660,126 T107A probably benign Het
Pnkd A G 1: 74,351,557 N336D probably damaging Het
Prag1 T C 8: 36,103,934 V557A probably benign Het
Ptgfr A C 3: 151,835,686 S62A probably benign Het
Smc2 A G 4: 52,450,842 Y220C probably damaging Het
Sufu G A 19: 46,450,943 E246K probably damaging Het
Sult2a1 T A 7: 13,832,679 R124* probably null Het
Sult4a1 T A 15: 84,086,616 Y196F possibly damaging Het
Trim15 G A 17: 36,865,083 R191W probably damaging Het
Ttn A G 2: 76,942,975 V2361A possibly damaging Het
Usp16 T C 16: 87,466,276 V122A possibly damaging Het
Vmn1r122 T A 7: 21,134,111 K6N probably benign Het
Vmn1r34 G A 6: 66,636,915 Q280* probably null Het
Vmn2r45 T A 7: 8,481,333 H491L possibly damaging Het
Wdpcp T C 11: 21,711,949 L407P probably damaging Het
Zfp157 T C 5: 138,447,578 I65T probably benign Het
Other mutations in Olfr1427
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01520:Olfr1427 APN 19 12099636 start codon destroyed probably null 0.98
IGL01768:Olfr1427 APN 19 12099039 missense probably damaging 1.00
IGL02060:Olfr1427 APN 19 12099460 missense probably damaging 1.00
IGL02328:Olfr1427 APN 19 12098782 missense probably damaging 1.00
R0346:Olfr1427 UTSW 19 12099439 missense probably damaging 0.96
R1264:Olfr1427 UTSW 19 12098834 missense probably benign 0.42
R1702:Olfr1427 UTSW 19 12099166 missense probably benign 0.25
R1709:Olfr1427 UTSW 19 12098881 missense probably damaging 1.00
R4781:Olfr1427 UTSW 19 12099367 missense probably benign 0.01
R4821:Olfr1427 UTSW 19 12098746 missense probably benign 0.00
R5509:Olfr1427 UTSW 19 12098977 missense possibly damaging 0.94
R5668:Olfr1427 UTSW 19 12098926 missense probably damaging 0.99
R6156:Olfr1427 UTSW 19 12099120 missense possibly damaging 0.87
R6619:Olfr1427 UTSW 19 12099363 missense probably damaging 0.99
R6950:Olfr1427 UTSW 19 12099390 missense probably benign 0.00
R7008:Olfr1427 UTSW 19 12098850 missense possibly damaging 0.68
R7991:Olfr1427 UTSW 19 12098826 missense possibly damaging 0.90
Posted On2013-10-07