Incidental Mutation 'IGL00334:Or51a6'
ID 12850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51a6
Ensembl Gene ENSMUSG00000066269
Gene Name olfactory receptor family 51 subfamily A member 6
Synonyms GA_x6K02T2PBJ9-5666843-5665908, MOR8-1, Olfr575
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL00334
Quality Score
Status
Chromosome 7
Chromosomal Location 102603871-102604827 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102604311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 173 (K173E)
Ref Sequence ENSEMBL: ENSMUSP00000081873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084812] [ENSMUST00000209778] [ENSMUST00000213477] [ENSMUST00000216420]
AlphaFold Q8VH16
Predicted Effect probably benign
Transcript: ENSMUST00000084812
AA Change: K173E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000081873
Gene: ENSMUSG00000066269
AA Change: K173E

DomainStartEndE-ValueType
Pfam:7tm_4 40 318 4.6e-112 PFAM
Pfam:7TM_GPCR_Srsx 44 312 2.6e-10 PFAM
Pfam:7tm_1 50 300 6.4e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209778
AA Change: K166E
Predicted Effect probably benign
Transcript: ENSMUST00000213477
AA Change: K166E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000216420
AA Change: K166E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arsb T G 13: 94,075,787 (GRCm39) H423Q probably benign Het
Bltp2 T A 11: 78,160,400 (GRCm39) L620I possibly damaging Het
Ces1f T C 8: 93,994,620 (GRCm39) T264A probably benign Het
Clcn6 C A 4: 148,102,359 (GRCm39) probably null Het
Cyb5r3 C A 15: 83,044,605 (GRCm39) A138S probably benign Het
Cyp3a57 A T 5: 145,307,834 (GRCm39) N197Y probably damaging Het
Dctn2 A G 10: 127,113,559 (GRCm39) probably benign Het
Dnmt1 C T 9: 20,821,566 (GRCm39) A1197T possibly damaging Het
Dock2 T C 11: 34,595,488 (GRCm39) D436G probably damaging Het
Drd4 A G 7: 140,872,096 (GRCm39) N49S probably damaging Het
Dst T A 1: 34,205,373 (GRCm39) V521D probably damaging Het
Eif5b T C 1: 38,080,800 (GRCm39) S714P probably damaging Het
Glis3 A G 19: 28,517,664 (GRCm39) I178T probably damaging Het
Gm11565 T A 11: 99,806,021 (GRCm39) C138S possibly damaging Het
H1f8 T A 6: 115,924,588 (GRCm39) probably benign Het
Hdx T A X: 110,492,578 (GRCm39) I623F probably benign Het
Huwe1 T G X: 150,668,623 (GRCm39) L843V probably damaging Het
Hyal2 T C 9: 107,447,604 (GRCm39) Y86H probably damaging Het
Irf7 A T 7: 140,844,553 (GRCm39) S157T probably benign Het
Jmjd4 T A 11: 59,346,140 (GRCm39) M331K probably damaging Het
Kdm2a A T 19: 4,406,926 (GRCm39) D112E possibly damaging Het
Mamdc2 A C 19: 23,356,138 (GRCm39) Y103* probably null Het
Map2k3 T C 11: 60,834,041 (GRCm39) V77A possibly damaging Het
Mideas G A 12: 84,219,629 (GRCm39) R442* probably null Het
Mprip T A 11: 59,639,417 (GRCm39) D403E probably benign Het
Mutyh T A 4: 116,676,516 (GRCm39) V496D possibly damaging Het
Nbeal1 T C 1: 60,321,042 (GRCm39) V2051A probably damaging Het
Nbeal1 T C 1: 60,367,262 (GRCm39) L2575P probably damaging Het
Or10j5 T G 1: 172,785,158 (GRCm39) S265R possibly damaging Het
Pcdhb6 T A 18: 37,467,277 (GRCm39) I66N probably damaging Het
Pck2 T C 14: 55,780,098 (GRCm39) Y89H probably benign Het
Poglut3 T A 9: 53,309,330 (GRCm39) probably benign Het
Poglut3 C A 9: 53,309,328 (GRCm39) probably benign Het
Polr3e C T 7: 120,540,034 (GRCm39) Q594* probably null Het
Ptpro T G 6: 137,371,907 (GRCm39) probably null Het
Rfx4 A G 10: 84,615,917 (GRCm39) K28E possibly damaging Het
Shox2 T C 3: 66,888,774 (GRCm39) E39G possibly damaging Het
Slc22a16 A T 10: 40,449,930 (GRCm39) D122V probably benign Het
Smr3a A C 5: 88,155,919 (GRCm39) probably benign Het
Spmip8 G A 8: 96,039,676 (GRCm39) R31H probably damaging Het
Taf4 G T 2: 179,618,418 (GRCm39) L8M unknown Het
Tbkbp1 T A 11: 97,028,474 (GRCm39) probably benign Het
Tmem120b G T 5: 123,253,230 (GRCm39) E210D probably damaging Het
Tmem120b A T 5: 123,253,229 (GRCm39) probably null Het
Trim21 C T 7: 102,208,805 (GRCm39) V305M probably damaging Het
Ube4a A T 9: 44,859,439 (GRCm39) L353Q probably damaging Het
Zfyve1 A T 12: 83,621,572 (GRCm39) N274K probably benign Het
Other mutations in Or51a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02583:Or51a6 APN 7 102,603,918 (GRCm39) missense possibly damaging 0.96
R0003:Or51a6 UTSW 7 102,604,185 (GRCm39) missense probably benign
R1553:Or51a6 UTSW 7 102,604,425 (GRCm39) missense possibly damaging 0.87
R1641:Or51a6 UTSW 7 102,604,175 (GRCm39) missense probably benign 0.07
R1993:Or51a6 UTSW 7 102,603,953 (GRCm39) missense probably damaging 1.00
R4279:Or51a6 UTSW 7 102,604,292 (GRCm39) missense probably benign 0.03
R4905:Or51a6 UTSW 7 102,604,721 (GRCm39) missense probably damaging 0.96
R5992:Or51a6 UTSW 7 102,604,216 (GRCm39) missense probably benign 0.25
R6122:Or51a6 UTSW 7 102,604,737 (GRCm39) missense probably benign
R6122:Or51a6 UTSW 7 102,604,011 (GRCm39) missense probably damaging 0.99
R6391:Or51a6 UTSW 7 102,604,622 (GRCm39) missense possibly damaging 0.66
R6685:Or51a6 UTSW 7 102,604,888 (GRCm39) splice site probably null
R7109:Or51a6 UTSW 7 102,604,460 (GRCm39) missense probably damaging 1.00
R7117:Or51a6 UTSW 7 102,604,185 (GRCm39) missense probably benign
R7901:Or51a6 UTSW 7 102,604,887 (GRCm39) critical splice acceptor site probably null
R8136:Or51a6 UTSW 7 102,604,448 (GRCm39) missense probably damaging 1.00
R8299:Or51a6 UTSW 7 102,604,739 (GRCm39) missense probably damaging 1.00
R9063:Or51a6 UTSW 7 102,604,446 (GRCm39) missense probably benign 0.42
R9523:Or51a6 UTSW 7 102,604,464 (GRCm39) missense probably damaging 1.00
R9655:Or51a6 UTSW 7 102,604,319 (GRCm39) missense probably damaging 0.99
R9671:Or51a6 UTSW 7 102,604,633 (GRCm39) missense probably benign 0.27
Z1177:Or51a6 UTSW 7 102,604,183 (GRCm39) missense probably benign 0.00
Posted On 2012-12-06