Incidental Mutation 'IGL02793:Olfr954'
ID359828
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: 0.092) question?
Stock #IGL02793
Quality Score
Status
Chromosome9
Chromosomal Location39456701-39464625 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39461506 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 22 (E22G)
Ref Sequence ENSEMBL: ENSMUSP00000151116 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080329] [ENSMUST00000214818]
Predicted Effect probably benign
Transcript: ENSMUST00000080329
AA Change: E25G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000079205
Gene: ENSMUSG00000094745
AA Change: E25G

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: E22G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
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
Abcb11 T C 2: 69,291,949 I397V possibly damaging Het
Bco2 A T 9: 50,544,534 V173E probably damaging Het
Bdnf T C 2: 109,723,851 V150A probably damaging Het
Cdh15 T A 8: 122,860,982 V215E probably damaging Het
Col6a2 A T 10: 76,596,310 I1003N possibly damaging Het
Daam2 A C 17: 49,464,028 I887S probably damaging Het
Dnajb13 C T 7: 100,507,441 D143N probably damaging Het
Fabp3-ps1 T A 10: 86,732,079 probably benign Het
Gid4 G A 11: 60,432,430 R116Q probably benign Het
Hectd2 A G 19: 36,587,421 E34G probably damaging Het
Hyal6 A T 6: 24,734,379 K104* probably null Het
Il1b A G 2: 129,367,251 I153T probably benign Het
Kdm3b A G 18: 34,829,019 M1499V probably damaging Het
Kntc1 C A 5: 123,778,277 probably null Het
Lmbr1 A G 5: 29,292,188 S72P probably damaging Het
Lrrc2 T C 9: 110,979,627 probably null Het
Map2k5 T C 9: 63,257,039 I328V probably benign Het
Mphosph9 T A 5: 124,283,737 probably null Het
Mpp4 C T 1: 59,136,834 probably null Het
Ndrg3 A G 2: 156,950,032 probably null Het
Ndufa10 A C 1: 92,469,917 Y136D probably damaging Het
Olfr1245 T C 2: 89,575,552 Y58C probably damaging Het
Olfr1331 A T 4: 118,869,597 D271V probably damaging Het
Olfr1535 T A 13: 21,556,002 S7C probably damaging Het
Rab18 T C 18: 6,788,474 probably benign Het
Rad1 T C 15: 10,493,279 I264T probably benign Het
Rhbdf1 A G 11: 32,213,293 V393A possibly damaging Het
Rrp12 A G 19: 41,871,566 L1025P probably damaging Het
Rtca A G 3: 116,493,077 F302S probably damaging Het
Slc9b1 T A 3: 135,374,406 probably benign Het
Sspo A T 6: 48,487,894 probably benign Het
Ssrp1 T A 2: 85,040,920 I257N probably damaging Het
Sval2 A C 6: 41,861,861 Y11S probably benign Het
Tcl1b2 T C 12: 105,154,099 *118Q probably null Het
Thsd7b A G 1: 129,951,393 Y989C probably damaging Het
Tlr4 A C 4: 66,839,444 H158P probably damaging Het
Vmn2r42 T C 7: 8,194,853 T256A probably benign Het
Xdh T C 17: 73,900,581 E927G probably damaging Het
Yap1 T C 9: 7,973,906 N178S probably benign Het
Other mutations in Olfr954
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02704:Olfr954 APN 9 39462283 missense probably damaging 0.98
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 On2015-12-18