Incidental Mutation 'IGL03130:Olfr371'
ID410265
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr371
Ensembl Gene ENSMUSG00000051952
Gene Nameolfactory receptor 371
SynonymsGA_x6K02T2NUPS-13298842-13299780, MOR141-3
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL03130
Quality Score
Status
Chromosome8
Chromosomal Location85225988-85231509 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 85230629 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 45 (I45F)
Ref Sequence ENSEMBL: ENSMUSP00000151714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070849] [ENSMUST00000218663]
Predicted Effect possibly damaging
Transcript: ENSMUST00000070849
AA Change: I45F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000077921
Gene: ENSMUSG00000051952
AA Change: I45F

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 9.1e-55 PFAM
Pfam:7TM_GPCR_Srx 32 305 2.2e-6 PFAM
Pfam:7TM_GPCR_Srsx 35 305 3.2e-8 PFAM
Pfam:7tm_1 41 290 9.2e-27 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000218663
AA Change: I45F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtpbp1 T C 13: 59,474,589 E941G possibly damaging Het
AI314180 A T 4: 58,800,288 C1806S probably benign Het
Akap11 A T 14: 78,510,368 Y1526* probably null Het
Brd1 T C 15: 88,688,374 I1165V probably benign Het
Btbd11 G T 10: 85,388,483 probably null Het
Cdan1 T C 2: 120,727,912 D473G possibly damaging Het
Clstn3 G A 6: 124,459,263 L176F probably damaging Het
Ctif T C 18: 75,521,618 N279S probably benign Het
Dpy19l3 A G 7: 35,752,672 S16P probably benign Het
Fam151b T C 13: 92,450,193 Y244C probably benign Het
Gbf1 T C 19: 46,267,348 M750T possibly damaging Het
Gm11564 T A 11: 99,815,053 T184S unknown Het
Gnptab A G 10: 88,436,371 K958E possibly damaging Het
Hibch T C 1: 52,885,151 S162P possibly damaging Het
Itpr1 T C 6: 108,523,401 S2651P probably benign Het
Lyrm1 A G 7: 119,914,180 D56G probably damaging Het
Manba T C 3: 135,551,159 Y528H probably damaging Het
Npas2 A C 1: 39,313,028 E186D probably damaging Het
Olfr1314 A T 2: 112,091,821 D293E probably benign Het
Olfr867 C A 9: 20,055,372 L30F probably benign Het
Oraov1 A G 7: 144,916,460 E42G probably damaging Het
Pcdhb6 T A 18: 37,335,587 Y520* probably null Het
Plekhm1 C T 11: 103,377,381 R588H probably benign Het
Psg23 A T 7: 18,610,416 H371Q probably benign Het
Ptpn12 T C 5: 21,002,612 probably benign Het
Rela T C 19: 5,639,881 C120R probably damaging Het
Rps6kc1 T A 1: 190,799,811 I665F probably damaging Het
Spg21 A G 9: 65,473,708 Q99R probably benign Het
St14 A G 9: 31,097,071 probably null Het
Sult1c2 A T 17: 53,830,071 N274K probably benign Het
Syk T C 13: 52,622,732 V256A probably benign Het
Tcte1 A G 17: 45,533,296 D66G probably damaging Het
Tgm4 C T 9: 123,056,515 T374M probably damaging Het
Tns4 T C 11: 99,068,269 H668R probably damaging Het
Tsn C T 1: 118,305,269 A102T possibly damaging Het
Uvssa T A 5: 33,391,845 S350T possibly damaging Het
Vmn1r3 T A 4: 3,185,214 Y31F possibly damaging Het
Vmn2r114 A T 17: 23,296,996 probably benign Het
Vmn2r27 T C 6: 124,192,317 D618G possibly damaging Het
Vmn2r91 T A 17: 18,110,111 probably benign Het
Vti1a T C 19: 55,391,847 Y143H probably damaging Het
Zfand4 T A 6: 116,273,659 Y17N probably damaging Het
Zfp729a T C 13: 67,619,642 probably null Het
Zfp827 A G 8: 79,060,957 T251A probably damaging Het
Other mutations in Olfr371
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01104:Olfr371 APN 8 85231184 missense probably benign 0.14
IGL01380:Olfr371 APN 8 85231329 missense possibly damaging 0.95
IGL01380:Olfr371 APN 8 85231146 missense probably damaging 0.99
IGL01680:Olfr371 APN 8 85230679 missense probably benign
IGL01880:Olfr371 APN 8 85231083 missense probably benign 0.00
IGL02194:Olfr371 APN 8 85230633 missense possibly damaging 0.82
IGL02416:Olfr371 APN 8 85231033 nonsense probably null
IGL02494:Olfr371 APN 8 85230683 missense possibly damaging 0.95
IGL03072:Olfr371 APN 8 85230510 missense probably benign 0.08
R0017:Olfr371 UTSW 8 85231077 missense probably benign 0.25
R1157:Olfr371 UTSW 8 85231260 missense probably damaging 0.98
R1165:Olfr371 UTSW 8 85230771 missense probably damaging 0.98
R1730:Olfr371 UTSW 8 85230848 missense probably benign 0.16
R2017:Olfr371 UTSW 8 85230744 missense possibly damaging 0.91
R2426:Olfr371 UTSW 8 85231064 missense probably damaging 0.97
R4447:Olfr371 UTSW 8 85231366 nonsense probably null
R4703:Olfr371 UTSW 8 85230608 missense possibly damaging 0.95
R4797:Olfr371 UTSW 8 85230938 missense probably benign
R5029:Olfr371 UTSW 8 85231206 missense probably benign 0.00
R5173:Olfr371 UTSW 8 85230576 missense probably damaging 0.99
R6349:Olfr371 UTSW 8 85231158 missense possibly damaging 0.93
R7754:Olfr371 UTSW 8 85230798 missense possibly damaging 0.71
Posted On2016-08-02