Incidental Mutation 'IGL03293:Olfr1181'
ID415950
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1181
Ensembl Gene ENSMUSG00000075125
Gene Nameolfactory receptor 1181
SynonymsMOR225-9P, GA_x6K02T2Q125-49911636-49910701
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL03293
Quality Score
Status
Chromosome2
Chromosomal Location88420321-88426171 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88423227 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 266 (D266G)
Ref Sequence ENSEMBL: ENSMUSP00000150939 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099823] [ENSMUST00000102619] [ENSMUST00000213190] [ENSMUST00000216121] [ENSMUST00000217320]
Predicted Effect probably damaging
Transcript: ENSMUST00000099823
AA Change: D266G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097411
Gene: ENSMUSG00000075125
AA Change: D266G

DomainStartEndE-ValueType
Pfam:7tm_4 28 303 1.5e-48 PFAM
Pfam:7tm_1 39 285 6.9e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102619
AA Change: D266G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099679
Gene: ENSMUSG00000075125
AA Change: D266G

DomainStartEndE-ValueType
low complexity region 24 34 N/A INTRINSIC
Pfam:7tm_1 39 285 7.2e-26 PFAM
Pfam:7tm_4 137 278 3.5e-39 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213190
AA Change: D266G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000216121
Predicted Effect probably benign
Transcript: ENSMUST00000217320
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
9230019H11Rik A G 10: 3,125,699 noncoding transcript Het
A830018L16Rik T A 1: 11,545,151 probably null Het
Akr1c14 C T 13: 4,079,130 R45* probably null Het
Ccdc62 T A 5: 123,951,225 L309I possibly damaging Het
Ccdc66 T A 14: 27,490,671 N565I probably damaging Het
Cerkl G T 2: 79,342,375 A318E probably damaging Het
Clec4n A T 6: 123,232,146 T57S probably benign Het
Cluh A G 11: 74,665,752 E921G probably benign Het
Cnbd1 C T 4: 18,860,565 E394K possibly damaging Het
Dmgdh G T 13: 93,706,701 M348I probably benign Het
Dnajc13 G A 9: 104,174,426 S1744L possibly damaging Het
Dspp A T 5: 104,177,561 S597C unknown Het
Dync1h1 A T 12: 110,628,734 N1360I probably benign Het
Eepd1 A G 9: 25,603,412 H505R possibly damaging Het
Gcnt7 T C 2: 172,454,383 T174A possibly damaging Het
Gnb1 T C 4: 155,540,547 probably benign Het
Gpam A G 19: 55,071,016 S800P probably benign Het
Gsr T C 8: 33,694,996 probably benign Het
Herc2 A G 7: 56,155,130 K2302R probably benign Het
Hipk1 C A 3: 103,777,259 A347S possibly damaging Het
Iqgap2 T C 13: 95,731,434 N222S probably damaging Het
Marco T A 1: 120,494,795 M46L probably benign Het
Morc2b A T 17: 33,138,363 V145D probably damaging Het
Mprip C A 11: 59,696,163 P54Q probably damaging Het
Ndufv2 A T 17: 66,083,449 C175* probably null Het
Olfr272 A G 4: 52,910,835 *320Q probably null Het
Orc3 A C 4: 34,595,210 I195S probably damaging Het
Otos C A 1: 92,644,413 E64* probably null Het
Plxna2 T C 1: 194,804,945 S1603P probably damaging Het
Rlf A T 4: 121,148,330 I1151N probably benign Het
Scaper A G 9: 55,874,823 V283A probably benign Het
Sdccag3 A T 2: 26,387,676 probably benign Het
Slc25a43 A G X: 36,775,599 T270A probably benign Het
Slc35a5 A G 16: 45,143,781 V78A probably damaging Het
Smurf1 A T 5: 144,881,799 D636E probably benign Het
Tchhl1 A T 3: 93,470,275 E95D probably damaging Het
Tcp10a A G 17: 7,326,492 E72G possibly damaging Het
Tmem232 A G 17: 65,450,374 S275P probably damaging Het
Ugt1a5 T C 1: 88,166,818 F256S probably damaging Het
Vmn2r5 A G 3: 64,491,326 V744A probably benign Het
Vmn2r53 A T 7: 12,598,422 S433R probably benign Het
Vmn2r9 A T 5: 108,848,131 I217N probably damaging Het
Wdr83 G T 8: 85,080,587 A10E probably benign Het
Other mutations in Olfr1181
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Olfr1181 APN 2 88423786 missense probably benign 0.30
IGL02224:Olfr1181 APN 2 88423708 splice site probably null
IGL02802:Olfr1181 UTSW 2 88423488 missense probably benign 0.23
R2214:Olfr1181 UTSW 2 88423117 missense probably benign 0.00
R2508:Olfr1181 UTSW 2 88423456 missense possibly damaging 0.95
R4050:Olfr1181 UTSW 2 88423623 missense probably damaging 0.99
R5404:Olfr1181 UTSW 2 88423801 missense probably damaging 0.98
R5727:Olfr1181 UTSW 2 88423447 missense probably benign 0.00
R6578:Olfr1181 UTSW 2 88423144 missense probably benign 0.12
R6663:Olfr1181 UTSW 2 88423350 missense probably benign 0.25
R6974:Olfr1181 UTSW 2 88423812 missense possibly damaging 0.93
R7042:Olfr1181 UTSW 2 88423402 missense possibly damaging 0.89
R7659:Olfr1181 UTSW 2 88423926 missense probably damaging 1.00
R8443:Olfr1181 UTSW 2 88423401 missense probably benign
X0018:Olfr1181 UTSW 2 88423662 missense probably benign
Z1177:Olfr1181 UTSW 2 88423815 missense probably benign 0.08
Posted On2016-08-02