Incidental Mutation 'IGL02704:Olfr954'
ID304254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr954
Ensembl Gene ENSMUSG00000094745
Gene Nameolfactory receptor 954
SynonymsGA_x6K02T2PVTD-33158015-33158950, MOR171-53, MOR171-42
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL02704
Quality Score
Status
Chromosome9
Chromosomal Location39456701-39464625 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 39462283 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 284 (V284A)
Ref Sequence ENSEMBL: ENSMUSP00000079205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080329] [ENSMUST00000214818]
Predicted Effect probably damaging
Transcript: ENSMUST00000080329
AA Change: V284A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000079205
Gene: ENSMUSG00000094745
AA Change: V284A

DomainStartEndE-ValueType
Pfam:7tm_4 34 311 2.6e-52 PFAM
Pfam:7TM_GPCR_Srsx 38 264 3e-5 PFAM
Pfam:7tm_1 44 293 1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214818
AA Change: V281A

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219910
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs G T 2: 93,842,926 P162Q probably damaging Het
Alb A G 5: 90,468,509 N291S possibly damaging Het
Ankar T C 1: 72,652,343 D935G possibly damaging Het
Atp13a5 A T 16: 29,251,328 C935* probably null Het
Bivm A T 1: 44,126,446 T19S probably benign Het
Ddah2 C A 17: 35,061,007 D158E possibly damaging Het
Dnah7b C T 1: 46,142,133 T1060I probably benign Het
Efhb T C 17: 53,426,269 T525A probably damaging Het
Exoc3 A G 13: 74,174,144 M604T probably benign Het
Frmpd1 T G 4: 45,285,082 I1301S possibly damaging Het
Gm5269 T C 1: 45,890,075 T2A probably benign Het
Hif3a T A 7: 17,050,761 probably benign Het
Hpgds A T 6: 65,123,637 L119* probably null Het
Iars A G 13: 49,721,100 D750G probably damaging Het
Ift43 T A 12: 86,161,177 D106E probably benign Het
Iqub T A 6: 24,505,910 probably benign Het
Lamb1 A G 12: 31,318,467 K1199E probably benign Het
Mast3 T A 8: 70,786,875 I395F probably damaging Het
Megf8 T C 7: 25,359,782 S2236P probably damaging Het
Met T A 6: 17,491,257 V6E possibly damaging Het
Muc5ac A T 7: 141,795,263 T479S possibly damaging Het
Myo7b T C 18: 31,966,961 T1623A probably benign Het
Neto1 T C 18: 86,473,823 L283P probably damaging Het
Olfr1104 T C 2: 87,022,277 Q89R probably benign Het
Olfr1287 A T 2: 111,449,147 E2D probably benign Het
Olfr720 T C 14: 14,175,483 I200V probably benign Het
Olfr917 G A 9: 38,665,767 P26S possibly damaging Het
Onecut1 A G 9: 74,863,030 N245S probably damaging Het
Pkd1l1 A G 11: 8,834,910 V1958A probably benign Het
Plb1 C T 5: 32,353,667 A1292V probably benign Het
Plekha5 A G 6: 140,543,866 E223G probably damaging Het
Pou1f1 A T 16: 65,529,799 Q121L possibly damaging Het
Rbm25 G A 12: 83,642,726 G47D probably damaging Het
Rif1 T A 2: 52,093,576 M577K probably damaging Het
Scn8a A G 15: 101,008,062 E712G possibly damaging Het
Snx24 A G 18: 53,327,437 N29S probably benign Het
Tmem217 A T 17: 29,526,558 V66D probably damaging Het
Ttn T G 2: 76,767,641 N19643H probably damaging Het
Uimc1 T C 13: 55,030,959 T646A probably benign Het
Other mutations in Olfr954
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02793:Olfr954 APN 9 39461506 missense probably benign 0.09
IGL02964:Olfr954 APN 9 39461781 missense possibly damaging 0.88
IGL02979:Olfr954 APN 9 39461523 missense probably benign 0.02
R0041:Olfr954 UTSW 9 39461476 missense probably benign 0.34
R0153:Olfr954 UTSW 9 39461671 missense probably damaging 0.99
R0269:Olfr954 UTSW 9 39461794 missense probably damaging 1.00
R0426:Olfr954 UTSW 9 39461593 missense probably damaging 1.00
R0731:Olfr954 UTSW 9 39461532 missense probably damaging 1.00
R1800:Olfr954 UTSW 9 39462114 missense probably damaging 1.00
R2340:Olfr954 UTSW 9 39461809 missense probably damaging 1.00
R2901:Olfr954 UTSW 9 39461938 missense probably damaging 0.97
R2912:Olfr954 UTSW 9 39462216 missense probably damaging 1.00
R2939:Olfr954 UTSW 9 39461930 missense probably benign 0.02
R2940:Olfr954 UTSW 9 39461930 missense probably benign 0.02
R3081:Olfr954 UTSW 9 39461930 missense probably benign 0.02
R3765:Olfr954 UTSW 9 39461624 nonsense probably null
R4450:Olfr954 UTSW 9 39462032 missense probably benign 0.00
R4515:Olfr954 UTSW 9 39462231 nonsense probably null
R4786:Olfr954 UTSW 9 39461841 missense probably benign 0.16
R4961:Olfr954 UTSW 9 39461887 missense probably damaging 1.00
R5219:Olfr954 UTSW 9 39462267 missense probably benign 0.09
R5602:Olfr954 UTSW 9 39462030 missense probably benign 0.00
R5887:Olfr954 UTSW 9 39461491 missense probably damaging 1.00
R5950:Olfr954 UTSW 9 39462337 missense probably benign 0.01
R6943:Olfr954 UTSW 9 39461863 missense probably benign 0.05
R7567:Olfr954 UTSW 9 39461877 missense possibly damaging 0.92
R8817:Olfr954 UTSW 9 39462091 missense probably damaging 1.00
X0060:Olfr954 UTSW 9 39462274 missense probably damaging 1.00
Z1177:Olfr954 UTSW 9 39461701 frame shift probably null
Posted On2015-04-16