Incidental Mutation 'IGL02658:Olfr1370'
ID302424
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1370
Ensembl Gene ENSMUSG00000042869
Gene Nameolfactory receptor 1370
SynonymsGA_x6K02T2QHY8-12181473-12182423, MOR256-14
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL02658
Quality Score
Status
Chromosome13
Chromosomal Location21069334-21074947 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 21072812 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 163 (T163I)
Ref Sequence ENSEMBL: ENSMUSP00000149341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058168] [ENSMUST00000215357] [ENSMUST00000215806]
Predicted Effect probably damaging
Transcript: ENSMUST00000058168
AA Change: T163I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054533
Gene: ENSMUSG00000042869
AA Change: T163I

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srv 24 305 1.8e-8 PFAM
Pfam:7tm_4 31 308 3.6e-54 PFAM
Pfam:7TM_GPCR_Srsx 35 306 1.9e-6 PFAM
Pfam:7tm_1 41 290 2e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213848
Predicted Effect probably damaging
Transcript: ENSMUST00000215357
AA Change: T163I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215806
AA Change: T163I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,952,560 Y946F probably benign Het
Abcb4 T G 5: 8,934,240 W657G probably benign Het
Adcy1 T C 11: 7,138,279 probably benign Het
Arap3 A G 18: 37,990,994 V351A probably benign Het
Bpifb9b A C 2: 154,311,281 Y89S probably benign Het
Carns1 C T 19: 4,173,084 C47Y probably benign Het
Chd5 C T 4: 152,360,593 H344Y probably damaging Het
Ctnna2 T C 6: 76,980,824 T481A probably benign Het
Cyth1 T A 11: 118,182,246 D264V probably damaging Het
Dph1 C A 11: 75,180,635 L311F probably benign Het
Eif3l A G 15: 79,076,942 D65G probably damaging Het
Gtf2a1l T A 17: 88,668,718 F3Y probably benign Het
Hcn4 A T 9: 58,859,465 T770S unknown Het
Hydin A T 8: 110,413,276 I726F possibly damaging Het
Klf2 A G 8: 72,319,096 I7V probably benign Het
Ltn1 A T 16: 87,415,774 L633H probably damaging Het
Ncoa3 A G 2: 166,051,393 D206G probably benign Het
Nlrp4a T G 7: 26,449,713 D248E probably benign Het
Nyap1 A G 5: 137,735,484 I429T probably damaging Het
Olfr285 A G 15: 98,313,356 S65P probably damaging Het
Olfr338 T A 2: 36,377,060 C95S probably damaging Het
Olfr578 A G 7: 102,984,330 M278T probably benign Het
Olfr720 T A 14: 14,175,732 M117L possibly damaging Het
Pcf11 T C 7: 92,647,046 E1322G probably damaging Het
Plcxd2 A T 16: 45,972,326 F217I probably benign Het
Plxna4 A T 6: 32,185,411 I1389N probably damaging Het
Ppp1r15a T C 7: 45,524,667 Y239C probably benign Het
Psma6 A G 12: 55,412,211 E126G probably benign Het
R3hcc1l T A 19: 42,562,702 V46E probably damaging Het
Rap1gds1 G T 3: 138,957,479 H320N probably damaging Het
Sdhaf3 A G 6: 7,038,992 M105V probably damaging Het
Slc22a26 T A 19: 7,788,248 N345I probably benign Het
Sncaip T C 18: 52,894,955 I412T possibly damaging Het
Sorcs1 A T 19: 50,190,092 I864N probably damaging Het
Spag5 C T 11: 78,321,331 Q1062* probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Szrd1 A G 4: 141,139,746 probably benign Het
Tns2 C A 15: 102,107,796 probably benign Het
Trcg1 C A 9: 57,242,228 S361* probably null Het
Tshz3 T C 7: 36,769,158 F191L probably damaging Het
Ttc39a T C 4: 109,422,893 V124A probably damaging Het
Ttf1 T C 2: 29,074,011 I633T probably damaging Het
Zfp691 A G 4: 119,170,507 F176S probably damaging Het
Other mutations in Olfr1370
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01655:Olfr1370 APN 13 21072905 missense probably damaging 1.00
R0281:Olfr1370 UTSW 13 21072374 missense probably benign
R1838:Olfr1370 UTSW 13 21072425 nonsense probably null
R1858:Olfr1370 UTSW 13 21072471 missense probably damaging 0.98
R2181:Olfr1370 UTSW 13 21073224 missense probably damaging 1.00
R4502:Olfr1370 UTSW 13 21072746 missense probably damaging 1.00
R4594:Olfr1370 UTSW 13 21072522 missense probably benign 0.30
R4757:Olfr1370 UTSW 13 21072545 missense probably damaging 1.00
R5222:Olfr1370 UTSW 13 21072569 missense probably damaging 1.00
R6245:Olfr1370 UTSW 13 21072690 missense possibly damaging 0.69
R6350:Olfr1370 UTSW 13 21072605 missense probably benign 0.00
R6360:Olfr1370 UTSW 13 21072583 missense probably damaging 1.00
R8539:Olfr1370 UTSW 13 21073173 missense probably benign 0.00
R8812:Olfr1370 UTSW 13 21073050 missense probably damaging 1.00
Posted On2015-04-16