Incidental Mutation 'IGL01340:Olfr1208'
ID74808
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1208
Ensembl Gene ENSMUSG00000075114
Gene Nameolfactory receptor 1208
SynonymsMOR225-4, GA_x6K02T2Q125-50372411-50371485
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.056) question?
Stock #IGL01340
Quality Score
Status
Chromosome2
Chromosomal Location88895575-88902311 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88896977 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 207 (T207A)
Ref Sequence ENSEMBL: ENSMUSP00000149695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099810] [ENSMUST00000214121] [ENSMUST00000214297]
Predicted Effect probably damaging
Transcript: ENSMUST00000099810
AA Change: T207A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097398
Gene: ENSMUSG00000075114
AA Change: T207A

DomainStartEndE-ValueType
Pfam:7tm_4 28 302 1.9e-48 PFAM
Pfam:7tm_1 38 284 2.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214121
AA Change: T207A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000214297
AA Change: T207A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,971,984 E439A possibly damaging Het
Abca9 T A 11: 110,130,627 I1086L probably benign Het
Adam17 A T 12: 21,330,057 C630* probably null Het
Adgrg5 T C 8: 94,937,629 L289P probably damaging Het
Aplp1 G A 7: 30,444,418 T64I probably damaging Het
Bdh1 T A 16: 31,456,843 W261R probably damaging Het
Cadm2 A T 16: 66,784,785 I202N possibly damaging Het
Cd209c C T 8: 3,945,892 R6H probably benign Het
Cfap221 T A 1: 119,953,620 I371F possibly damaging Het
Cfap44 A G 16: 44,404,130 Y67C probably damaging Het
Cilp T C 9: 65,275,974 S387P probably damaging Het
Cnot1 T C 8: 95,760,537 D598G probably damaging Het
Col5a1 T C 2: 27,960,451 L520P unknown Het
Cpvl A T 6: 53,896,451 Y433* probably null Het
Cxcl1 G T 5: 90,891,575 C59F probably damaging Het
Cyth3 T A 5: 143,684,435 L33* probably null Het
Dnah2 T C 11: 69,493,184 K1069E probably damaging Het
Drosha T A 15: 12,834,023 probably benign Het
Fam83h T A 15: 76,004,036 D484V probably damaging Het
Igsf3 C A 3: 101,439,679 Y663* probably null Het
Kmt5c C T 7: 4,742,141 R44* probably null Het
Kxd1 T C 8: 70,515,443 probably null Het
Lars A G 18: 42,202,577 V1158A probably benign Het
Lmf2 A G 15: 89,352,872 F413S probably damaging Het
Mc4r C T 18: 66,859,158 A295T probably benign Het
Mrc1 T C 2: 14,310,084 probably null Het
Mtmr7 T C 8: 40,597,422 Y110C probably damaging Het
Myd88 A C 9: 119,337,352 probably benign Het
Ndc1 T C 4: 107,374,147 V95A probably damaging Het
Ntrk1 T A 3: 87,788,714 E163V possibly damaging Het
Pappa A T 4: 65,323,872 D1491V possibly damaging Het
Phc3 T A 3: 30,929,884 I673F possibly damaging Het
Pkhd1 A T 1: 20,522,977 N1637K probably benign Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rgma T C 7: 73,417,330 F111S probably damaging Het
Slco1a6 A T 6: 142,109,383 N278K possibly damaging Het
Slfn9 A T 11: 82,981,751 F720I probably benign Het
Snd1 T A 6: 28,883,369 V741E probably benign Het
Snx6 C T 12: 54,754,309 R185Q probably damaging Het
Telo2 G A 17: 25,100,129 probably benign Het
Wdr91 A G 6: 34,904,579 S278P probably benign Het
Xab2 A T 8: 3,614,381 D277E probably damaging Het
Zbbx T C 3: 75,105,650 E158G possibly damaging Het
Other mutations in Olfr1208
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02132:Olfr1208 APN 2 88897159 missense probably benign
IGL02374:Olfr1208 APN 2 88897459 missense probably damaging 1.00
R1378:Olfr1208 UTSW 2 88897026 missense probably benign 0.01
R1570:Olfr1208 UTSW 2 88896946 missense probably damaging 1.00
R2056:Olfr1208 UTSW 2 88896761 missense probably damaging 1.00
R2092:Olfr1208 UTSW 2 88897267 missense probably damaging 0.99
R2185:Olfr1208 UTSW 2 88896703 missense probably damaging 0.99
R5223:Olfr1208 UTSW 2 88897334 missense probably benign 0.03
R5479:Olfr1208 UTSW 2 88896691 missense probably benign 0.13
R6463:Olfr1208 UTSW 2 88897118 missense probably benign 0.00
R6859:Olfr1208 UTSW 2 88896934 missense probably benign
R7347:Olfr1208 UTSW 2 88897271 missense possibly damaging 0.51
R7352:Olfr1208 UTSW 2 88896718 missense probably damaging 1.00
R7544:Olfr1208 UTSW 2 88897361 missense probably damaging 1.00
R7713:Olfr1208 UTSW 2 88897778 start gained probably benign
R7842:Olfr1208 UTSW 2 88896961 missense possibly damaging 0.89
R7869:Olfr1208 UTSW 2 88897064 missense probably benign 0.00
R8137:Olfr1208 UTSW 2 88896669 makesense probably null
R8168:Olfr1208 UTSW 2 88896776 missense probably benign 0.09
Z1176:Olfr1208 UTSW 2 88897061 missense probably damaging 1.00
Z1177:Olfr1208 UTSW 2 88896800 nonsense probably null
Posted On2013-10-07