Incidental Mutation 'IGL01104:Olfr371'
ID51767
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: 0.068) question?
Stock #IGL01104
Quality Score
Status
Chromosome8
Chromosomal Location85225988-85231509 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85231184 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 230 (T230A)
Ref Sequence ENSEMBL: ENSMUSP00000151714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070849] [ENSMUST00000218663]
Predicted Effect probably benign
Transcript: ENSMUST00000070849
AA Change: T230A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000077921
Gene: ENSMUSG00000051952
AA Change: T230A

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 probably benign
Transcript: ENSMUST00000218663
AA Change: T230A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T A 1: 89,726,075 probably benign Het
AU015836 A T X: 93,971,887 D15V probably damaging Het
Capns2 G T 8: 92,901,755 D91Y probably damaging Het
Chd6 C T 2: 160,961,927 R2071Q probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Dusp12 T G 1: 170,874,473 H319P probably damaging Het
Emilin3 A T 2: 160,909,783 V112E probably damaging Het
Eya3 T A 4: 132,711,929 F455L probably damaging Het
F10 G A 8: 13,055,686 G417D probably damaging Het
Fat3 A C 9: 16,375,728 V833G possibly damaging Het
Fat3 A T 9: 15,998,460 L2082H probably damaging Het
Golga5 T A 12: 102,493,814 M667K probably damaging Het
Gpr50 T A X: 71,667,227 L305H probably damaging Het
Grhl1 A G 12: 24,584,454 K217R probably damaging Het
Itgb2 A G 10: 77,547,194 probably null Het
Jag1 T A 2: 137,084,378 I1035L probably benign Het
Kdm2a A G 19: 4,356,738 probably benign Het
Lima1 A C 15: 99,843,700 S32A probably damaging Het
Lmod1 C T 1: 135,364,784 T459I probably damaging Het
Mtch1 T C 17: 29,336,222 D284G probably damaging Het
Mtus2 C T 5: 148,077,009 probably null Het
Ppl T C 16: 5,094,491 Q742R probably benign Het
Reln T C 5: 21,986,967 R1492G probably damaging Het
Rsad1 T C 11: 94,543,640 T323A possibly damaging Het
Slc22a8 A G 19: 8,607,965 T293A possibly damaging Het
Smc4 T C 3: 69,027,584 I677T possibly damaging Het
Ufd1 T C 16: 18,814,837 F4S probably damaging Het
Usp9x T C X: 13,160,903 V16A probably damaging Het
Vmn2r31 A T 7: 7,396,566 C131S probably damaging Het
Vmn2r65 A G 7: 84,940,788 I640T possibly damaging Het
Vwf T C 6: 125,683,556 C2676R probably damaging Het
Other mutations in Olfr371
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03130:Olfr371 APN 8 85230629 missense possibly damaging 0.93
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
Posted On2013-06-21