Incidental Mutation 'IGL00952:Olfr510'
ID27865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr510
Ensembl Gene ENSMUSG00000096209
Gene Nameolfactory receptor 510
SynonymsMOR204-34, GA_x6K02T2PBJ9-10997715-10998659
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL00952
Quality Score
Status
Chromosome7
Chromosomal Location108666418-108670259 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108668238 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 274 (N274S)
Ref Sequence ENSEMBL: ENSMUSP00000149693 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076289] [ENSMUST00000213979] [ENSMUST00000216331] [ENSMUST00000217170]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076289
AA Change: N274S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075637
Gene: ENSMUSG00000096209
AA Change: N274S

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 3e-50 PFAM
Pfam:7tm_1 44 293 4e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210621
AA Change: N274S
Predicted Effect possibly damaging
Transcript: ENSMUST00000213979
AA Change: N274S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216331
AA Change: N274S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217170
AA Change: N274S

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,964,799 I4S probably benign Het
Abca8b A G 11: 109,969,060 probably null Het
Aftph A T 11: 20,727,483 V42E probably damaging Het
AI467606 A G 7: 127,092,702 S150G probably damaging Het
Art4 T C 6: 136,854,820 N108D possibly damaging Het
B9d1 G A 11: 61,512,678 V167I possibly damaging Het
Ccdc47 A T 11: 106,203,532 probably null Het
Ccdc96 T A 5: 36,485,080 probably benign Het
Cfap44 A G 16: 44,421,275 I670V probably benign Het
Col18a1 T G 10: 77,069,979 K909Q possibly damaging Het
Col8a2 A G 4: 126,309,791 Y59C probably damaging Het
Coro6 A T 11: 77,468,465 D288V probably damaging Het
Cul4a C T 8: 13,146,562 L739F probably damaging Het
Dmxl2 C T 9: 54,416,882 V1073I probably damaging Het
Dnah11 T C 12: 118,196,651 T115A possibly damaging Het
Fdx1l A G 9: 21,073,262 probably null Het
Flnc C T 6: 29,459,547 Q2549* probably null Het
Foxn2 T C 17: 88,475,880 C188R probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ilf3 T C 9: 21,396,051 L343P probably damaging Het
Itgb2l C T 16: 96,426,750 G518S probably damaging Het
Itpr2 T A 6: 146,158,961 I2486F probably damaging Het
Kat2a A G 11: 100,706,151 V681A probably damaging Het
Kif17 A G 4: 138,262,708 N69S possibly damaging Het
Kif26b G A 1: 178,932,205 D2106N probably damaging Het
Klf6 A G 13: 5,861,681 T15A probably benign Het
Lyst A G 13: 13,678,107 T2231A probably benign Het
Mark4 T C 7: 19,431,824 T515A possibly damaging Het
Mast3 A T 8: 70,780,683 probably benign Het
Nalcn T C 14: 123,348,789 K722R probably benign Het
Ncf2 G A 1: 152,836,106 E524K probably benign Het
Olfr1135 A T 2: 87,671,815 I184N probably damaging Het
Olfr681 A G 7: 105,122,407 probably null Het
Olfr895 A T 9: 38,268,505 probably benign Het
Plcg2 A T 8: 117,607,217 M910L probably benign Het
Pramef17 T C 4: 143,993,324 H157R probably benign Het
Rai1 A T 11: 60,187,992 K961* probably null Het
Rsph14 T C 10: 75,029,769 D112G probably benign Het
Sgo1 T A 17: 53,687,247 D59V probably damaging Het
Slc22a29 A T 19: 8,217,857 V138E probably damaging Het
Slc9a1 T A 4: 133,416,382 V393D probably damaging Het
Smg6 A G 11: 74,929,148 R82G probably benign Het
Sppl3 T C 5: 115,074,876 S55P probably benign Het
Srsf12 A C 4: 33,226,103 Q122P possibly damaging Het
Tas1r2 T C 4: 139,655,252 M67T probably benign Het
Thnsl1 G A 2: 21,211,956 V174I possibly damaging Het
Thumpd1 A G 7: 119,717,009 V239A possibly damaging Het
Tnxb T G 17: 34,713,128 Y2212D probably damaging Het
Trim40 T C 17: 36,882,397 *213W probably null Het
Ttc16 T C 2: 32,770,247 D183G probably damaging Het
Other mutations in Olfr510
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Olfr510 APN 7 108667700 missense possibly damaging 0.61
IGL01358:Olfr510 APN 7 108667662 missense possibly damaging 0.90
IGL01663:Olfr510 APN 7 108667891 missense probably benign 0.01
IGL02686:Olfr510 APN 7 108667886 missense probably benign 0.00
PIT4466001:Olfr510 UTSW 7 108667536 missense possibly damaging 0.52
R0095:Olfr510 UTSW 7 108668045 missense probably benign 0.00
R0095:Olfr510 UTSW 7 108668045 missense probably benign 0.00
R0792:Olfr510 UTSW 7 108668157 missense probably damaging 1.00
R0925:Olfr510 UTSW 7 108668193 missense probably benign 0.00
R1829:Olfr510 UTSW 7 108667644 missense probably benign 0.24
R2092:Olfr510 UTSW 7 108667662 frame shift probably null
R2483:Olfr510 UTSW 7 108667662 frame shift probably null
R3619:Olfr510 UTSW 7 108667850 missense probably benign 0.00
R4386:Olfr510 UTSW 7 108668253 missense probably damaging 0.99
R5298:Olfr510 UTSW 7 108668072 missense probably benign 0.00
R5622:Olfr510 UTSW 7 108668082 missense probably benign
R6079:Olfr510 UTSW 7 108668205 missense probably damaging 0.97
R6138:Olfr510 UTSW 7 108668205 missense probably damaging 0.97
R8359:Olfr510 UTSW 7 108668311 missense probably benign 0.00
U15987:Olfr510 UTSW 7 108668205 missense probably damaging 0.97
Z1177:Olfr510 UTSW 7 108667836 missense probably damaging 1.00
Posted On2013-04-17