Incidental Mutation 'IGL00909:Olfr510'
ID27785
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 #IGL00909
Quality Score
Status
Chromosome7
Chromosomal Location108666418-108670259 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108667700 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 95 (I95V)
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: I95V

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000075637
Gene: ENSMUSG00000096209
AA Change: I95V

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: I95V
Predicted Effect possibly damaging
Transcript: ENSMUST00000213979
AA Change: I95V

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216331
AA Change: I95V

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000217170
AA Change: I95V

PolyPhen 2 Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik T A 9: 46,308,952 D94V possibly damaging Het
9330182L06Rik A T 5: 9,380,282 D64V probably damaging Het
Adamts20 T C 15: 94,379,813 Y256C probably damaging Het
Ampd1 A C 3: 103,088,428 D218A probably benign Het
Arcn1 T C 9: 44,751,354 N332D probably damaging Het
Arpp21 T A 9: 112,176,123 I219F probably damaging Het
Bicra A T 7: 15,996,577 D5E possibly damaging Het
Birc2 A C 9: 7,833,665 W272G probably damaging Het
Cd2ap A T 17: 42,830,114 probably benign Het
Celsr1 G A 15: 85,922,235 R974W probably damaging Het
Col4a2 A C 8: 11,448,167 T1659P possibly damaging Het
Coq9 C T 8: 94,851,902 L215F possibly damaging Het
Cped1 A G 6: 22,122,427 probably benign Het
Gga3 T A 11: 115,591,741 R105W probably damaging Het
Gm996 A G 2: 25,579,407 L164P probably damaging Het
Hmcn1 C T 1: 150,638,869 R3584Q probably benign Het
Hs6st3 T A 14: 119,139,034 L207Q probably damaging Het
Ift43 A G 12: 86,162,033 E141G probably damaging Het
Mrps31 T G 8: 22,427,825 F287V probably damaging Het
Naca A G 10: 128,041,682 probably benign Het
Nrf1 C T 6: 30,098,478 T135M probably damaging Het
Pfas A T 11: 69,003,814 Y8* probably null Het
Ppip5k1 G A 2: 121,347,358 R323W probably damaging Het
Rasal1 A G 5: 120,664,807 E376G probably damaging Het
Rfc1 A G 5: 65,279,699 L546P probably benign Het
Rheb A T 5: 24,807,075 I129N probably damaging Het
Scpep1 A T 11: 88,952,477 F52I probably damaging Het
Six2 A T 17: 85,687,891 L21Q probably damaging Het
Slit1 G T 19: 41,602,255 T1326K possibly damaging Het
Spata2l T C 8: 123,233,977 D191G possibly damaging Het
Susd4 C A 1: 182,891,987 A389D probably damaging Het
Tcaf2 A T 6: 42,624,576 F850I probably damaging Het
Teddm1b T C 1: 153,874,645 S67P probably damaging Het
Tiparp T A 3: 65,532,109 V100D probably damaging Het
Zdhhc14 A G 17: 5,752,792 H390R probably benign Het
Other mutations in Olfr510
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Olfr510 APN 7 108668238 missense possibly damaging 0.89
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