Incidental Mutation 'IGL01695:Or51a7'
ID 104232
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or51a7
Ensembl Gene ENSMUSG00000073962
Gene Name olfactory receptor family 51 subfamily A member 7
Synonyms GA_x6K02T2PBJ9-5676385-5677371, MOR8-5, Olfr576
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # IGL01695
Quality Score
Status
Chromosome 7
Chromosomal Location 102614309-102615247 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102614790 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 161 (F161S)
Ref Sequence ENSEMBL: ENSMUSP00000142459 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098213] [ENSMUST00000185326]
AlphaFold A0A0G2JFH3
Predicted Effect probably damaging
Transcript: ENSMUST00000098213
AA Change: F161S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143172
Gene: ENSMUSG00000073962
AA Change: F161S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 301 6.2e-12 PFAM
Pfam:7tm_1 41 291 2.5e-29 PFAM
Pfam:7tm_4 140 284 3.1e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000185326
AA Change: F161S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142459
Gene: ENSMUSG00000073962
AA Change: F161S

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 35 300 9.7e-12 PFAM
Pfam:7tm_1 41 291 1.8e-29 PFAM
Pfam:7tm_4 140 284 2.6e-28 PFAM
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b2 T A 7: 81,126,687 (GRCm39) probably benign Het
Arfgef3 T C 10: 18,479,167 (GRCm39) T1483A probably benign Het
Arl5a A T 2: 52,302,117 (GRCm39) I99N probably damaging Het
Bahcc1 G A 11: 120,167,435 (GRCm39) G1279R probably benign Het
Bbs5 A G 2: 69,479,434 (GRCm39) N43S probably damaging Het
Bltp2 T C 11: 78,156,019 (GRCm39) V177A probably benign Het
Calhm5 A G 10: 33,968,198 (GRCm39) V285A possibly damaging Het
Cdh23 C T 10: 60,167,612 (GRCm39) V1795M probably benign Het
Cep350 T C 1: 155,819,904 (GRCm39) E353G probably damaging Het
Cps1 A T 1: 67,236,194 (GRCm39) I976L probably benign Het
Ctdp1 A T 18: 80,492,841 (GRCm39) S551R probably damaging Het
Cyp2b19 C T 7: 26,458,489 (GRCm39) T68I probably damaging Het
Efcab3 A T 11: 104,626,889 (GRCm39) E864D probably damaging Het
Esr2 A G 12: 76,192,093 (GRCm39) S312P probably damaging Het
Gm6408 A G 5: 146,418,939 (GRCm39) probably benign Het
Krt9 A T 11: 100,082,263 (GRCm39) probably null Het
Myh6 T C 14: 55,194,870 (GRCm39) T662A probably benign Het
Ntn1 T C 11: 68,117,430 (GRCm39) D473G probably benign Het
Piezo1 A T 8: 123,222,248 (GRCm39) C961S possibly damaging Het
Pik3c2a T C 7: 116,016,753 (GRCm39) T335A possibly damaging Het
Plaa A T 4: 94,462,274 (GRCm39) Y140* probably null Het
Plxnb2 T C 15: 89,041,417 (GRCm39) I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 (GRCm39) N555K probably damaging Het
Ptprn2 T A 12: 116,805,008 (GRCm39) H174Q probably benign Het
Reln G A 5: 22,125,436 (GRCm39) T2749M probably damaging Het
Scarf1 A G 11: 75,412,783 (GRCm39) N384S probably damaging Het
Scrt1 T A 15: 76,403,150 (GRCm39) H280L unknown Het
Serpina1f C A 12: 103,659,943 (GRCm39) C113F probably damaging Het
Setdb2 A T 14: 59,639,742 (GRCm39) probably benign Het
Strc A G 2: 121,205,779 (GRCm39) L830P probably damaging Het
Tifab T C 13: 56,324,198 (GRCm39) S82G probably benign Het
Tmem217 T A 17: 29,745,322 (GRCm39) H136L probably damaging Het
Trio T C 15: 27,773,087 (GRCm39) E715G probably damaging Het
Ttn A T 2: 76,774,360 (GRCm39) M2182K probably damaging Het
Ube2d1 T C 10: 71,098,082 (GRCm39) D12G probably damaging Het
Utrn T C 10: 12,621,086 (GRCm39) D195G probably benign Het
Other mutations in Or51a7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01112:Or51a7 APN 7 102,615,235 (GRCm39) splice site probably benign
IGL01707:Or51a7 APN 7 102,615,126 (GRCm39) missense probably damaging 0.97
IGL02637:Or51a7 APN 7 102,622,250 (GRCm39) utr 3 prime probably benign
R1636:Or51a7 UTSW 7 102,614,898 (GRCm39) missense possibly damaging 0.94
R3077:Or51a7 UTSW 7 102,615,223 (GRCm39) missense probably benign 0.06
R3079:Or51a7 UTSW 7 102,622,254 (GRCm39) splice site probably null
R3803:Or51a7 UTSW 7 102,615,228 (GRCm39) critical splice donor site probably null
R4342:Or51a7 UTSW 7 102,615,231 (GRCm39) missense probably benign 0.03
R4866:Or51a7 UTSW 7 102,614,927 (GRCm39) missense probably benign 0.01
R5193:Or51a7 UTSW 7 102,615,143 (GRCm39) missense possibly damaging 0.52
R5194:Or51a7 UTSW 7 102,615,071 (GRCm39) missense probably benign 0.01
R9002:Or51a7 UTSW 7 102,614,618 (GRCm39) missense probably damaging 1.00
R9590:Or51a7 UTSW 7 102,614,553 (GRCm39) missense probably benign 0.07
Posted On 2014-01-21