Incidental Mutation 'IGL01570:Olfr481'
ID91104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr481
Ensembl Gene ENSMUSG00000054236
Gene Nameolfactory receptor 481
SynonymsMOR204-39, GA_x6K02T2PBJ9-10409785-10410723, MOR204-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock #IGL01570
Quality Score
Status
Chromosome7
Chromosomal Location108079855-108085824 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 108081273 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 160 (T160S)
Ref Sequence ENSEMBL: ENSMUSP00000151152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067143] [ENSMUST00000213601]
Predicted Effect probably benign
Transcript: ENSMUST00000067143
AA Change: T160S

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000063555
Gene: ENSMUSG00000054236
AA Change: T160S

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 6.5e-51 PFAM
Pfam:7tm_1 41 290 1.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210338
Predicted Effect probably benign
Transcript: ENSMUST00000213601
AA Change: T160S

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T C 16: 20,559,998 S54P probably damaging Het
Adam5 A G 8: 24,810,823 V230A probably damaging Het
Arid4b T A 13: 14,186,809 probably benign Het
Cep250 T G 2: 155,967,663 probably benign Het
Col28a1 T A 6: 8,014,540 D955V probably damaging Het
Gm7676 A G 8: 13,896,311 noncoding transcript Het
Hao1 A G 2: 134,554,200 S45P probably damaging Het
Hars2 A T 18: 36,787,592 I163L probably benign Het
Iqgap1 T C 7: 80,723,061 Y1510C possibly damaging Het
Itga4 G A 2: 79,322,634 probably null Het
Kif18b G A 11: 102,912,391 H498Y probably benign Het
Kin C T 2: 10,091,952 T204M probably benign Het
Lmo7 T C 14: 101,902,371 probably null Het
Ltbp2 G A 12: 84,794,033 T1009I probably benign Het
Mad1l1 A G 5: 140,117,277 S489P probably benign Het
Memo1 A G 17: 74,217,108 probably benign Het
Myocd T A 11: 65,200,807 H103L probably benign Het
Nhlrc2 T A 19: 56,574,787 F273I possibly damaging Het
Olfr385 C A 11: 73,589,383 M118I probably benign Het
Olfr978 T C 9: 39,994,329 I173T probably damaging Het
Pappa2 A C 1: 158,814,540 Y1315* probably null Het
Pdzk1ip1 C T 4: 115,089,017 P25S possibly damaging Het
Ppp2r5d A T 17: 46,687,917 V73D possibly damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Qars C T 9: 108,511,539 T266M probably damaging Het
Slc26a2 A C 18: 61,198,260 C700G possibly damaging Het
Zfp638 C A 6: 83,947,847 A724E probably damaging Het
Other mutations in Olfr481
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Olfr481 APN 7 108081204 missense probably benign 0.18
IGL02619:Olfr481 APN 7 108081742 utr 3 prime probably benign
IGL03175:Olfr481 APN 7 108081718 missense probably benign
R0401:Olfr481 UTSW 7 108080872 missense possibly damaging 0.81
R0932:Olfr481 UTSW 7 108081520 missense probably damaging 1.00
R1679:Olfr481 UTSW 7 108081652 missense probably damaging 1.00
R2189:Olfr481 UTSW 7 108081036 missense possibly damaging 0.47
R3804:Olfr481 UTSW 7 108081171 missense probably damaging 1.00
R4532:Olfr481 UTSW 7 108081549 missense probably benign 0.18
R4932:Olfr481 UTSW 7 108081574 missense probably damaging 0.99
R5630:Olfr481 UTSW 7 108081116 missense probably benign 0.05
R6155:Olfr481 UTSW 7 108081286 missense probably benign 0.00
R6523:Olfr481 UTSW 7 108081555 missense probably benign 0.34
R6987:Olfr481 UTSW 7 108081131 nonsense probably null
R7378:Olfr481 UTSW 7 108081192 missense not run
R7609:Olfr481 UTSW 7 108081546 missense probably damaging 0.99
V8831:Olfr481 UTSW 7 108081535 missense probably benign 0.24
Z1177:Olfr481 UTSW 7 108081072 missense probably benign 0.03
Posted On2013-12-09