Incidental Mutation 'IGL02625:Olfr1241'
ID301029
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1241
Ensembl Gene ENSMUSG00000075086
Gene Nameolfactory receptor 1241
SynonymsMOR231-14, GA_x6K02T2Q125-50926215-50925271
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL02625
Quality Score
Status
Chromosome2
Chromosomal Location89481314-89487126 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89482674 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 154 (S154P)
Ref Sequence ENSEMBL: ENSMUSP00000149914 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099778] [ENSMUST00000214743] [ENSMUST00000215055]
Predicted Effect probably damaging
Transcript: ENSMUST00000099778
AA Change: S154P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000097366
Gene: ENSMUSG00000075086
AA Change: S154P

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 1.5e-46 PFAM
Pfam:7tm_1 39 285 8.5e-19 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214743
AA Change: S154P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000215055
AA Change: S154P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,746,347 C109S probably damaging Het
Arhgdia C A 11: 120,580,213 E53D probably benign Het
Ccr4 A C 9: 114,492,333 C221W probably damaging Het
Ces2a G A 8: 104,740,278 probably null Het
Chpf2 G T 5: 24,591,711 E552* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnmt1 C T 9: 20,927,146 R207H probably benign Het
Dock2 A G 11: 34,501,168 probably null Het
Esr1 A T 10: 5,001,346 T575S probably benign Het
Fancc A G 13: 63,398,151 C93R probably damaging Het
Foxj3 A T 4: 119,624,917 R523W unknown Het
Fryl C T 5: 73,069,877 probably benign Het
Fsip2 A C 2: 82,949,492 H194P probably benign Het
Gaa G A 11: 119,274,733 V350I probably damaging Het
Gpn3 T A 5: 122,381,194 I152N probably damaging Het
H2-M10.3 T A 17: 36,367,525 H136L probably benign Het
Hist4h4 C T 6: 136,804,337 probably benign Het
Hspg2 A G 4: 137,512,642 D507G probably damaging Het
Jcad A G 18: 4,674,422 E728G probably benign Het
Kat14 G A 2: 144,402,445 R406H possibly damaging Het
Kcnma1 G T 14: 23,363,832 D863E probably damaging Het
Lrp1 A G 10: 127,574,486 Y1464H probably damaging Het
Map4 T C 9: 110,064,417 S584P probably damaging Het
Nlrp4f G A 13: 65,199,271 L58F probably damaging Het
Nlrp6 A G 7: 140,923,500 I506M probably benign Het
Nudt17 G A 3: 96,706,464 R266W probably damaging Het
Olfr1256 A G 2: 89,835,396 L183P probably damaging Het
Olfr651 A G 7: 104,553,573 Y218C probably damaging Het
Plcb4 A G 2: 135,961,794 E529G probably benign Het
Prss32 A T 17: 23,856,236 I187F possibly damaging Het
Prss55 A T 14: 64,079,369 I108K probably damaging Het
Rcl1 A G 19: 29,118,341 M109V probably benign Het
Rho A T 6: 115,935,197 M207L possibly damaging Het
Slc12a1 A G 2: 125,170,691 D291G probably damaging Het
Slco2b1 A C 7: 99,660,123 probably null Het
Stx11 T A 10: 12,941,917 D21V possibly damaging Het
Svep1 T A 4: 58,115,807 Y962F possibly damaging Het
Tbx5 G T 5: 119,836,907 probably benign Het
Tcf12 C A 9: 71,922,757 G141W probably damaging Het
Tmtc2 A G 10: 105,370,546 M296T probably damaging Het
Trim13 T A 14: 61,605,550 S339T probably benign Het
Ugt1a7c A G 1: 88,095,517 K133E possibly damaging Het
Usp40 A G 1: 87,950,017 V1050A probably benign Het
Vmn2r86 T G 10: 130,452,912 N240T probably damaging Het
Wdr36 T C 18: 32,859,261 V617A possibly damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr6 T C 9: 108,575,505 Y393C probably damaging Het
Zfp619 A T 7: 39,534,185 probably benign Het
Other mutations in Olfr1241
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01289:Olfr1241 APN 2 89482847 missense probably benign 0.38
IGL02175:Olfr1241 APN 2 89482282 missense possibly damaging 0.96
R0109:Olfr1241 UTSW 2 89482803 missense probably benign 0.10
R0109:Olfr1241 UTSW 2 89482803 missense probably benign 0.10
R1468:Olfr1241 UTSW 2 89482511 missense possibly damaging 0.94
R1468:Olfr1241 UTSW 2 89482511 missense possibly damaging 0.94
R1511:Olfr1241 UTSW 2 89482248 missense probably null 0.01
R1527:Olfr1241 UTSW 2 89482532 missense probably benign 0.10
R1528:Olfr1241 UTSW 2 89482553 missense probably damaging 1.00
R1585:Olfr1241 UTSW 2 89482971 missense probably benign 0.00
R2483:Olfr1241 UTSW 2 89483127 nonsense probably null
R2972:Olfr1241 UTSW 2 89482776 missense possibly damaging 0.52
R3692:Olfr1241 UTSW 2 89482896 missense probably benign
R4592:Olfr1241 UTSW 2 89482756 missense probably damaging 1.00
R4883:Olfr1241 UTSW 2 89482308 missense probably benign
R7104:Olfr1241 UTSW 2 89483114 missense possibly damaging 0.70
R7347:Olfr1241 UTSW 2 89482455 missense probably benign 0.05
Posted On2015-04-16