Incidental Mutation 'IGL02964:Olfr954'
ID365468
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: 0.124) question?
Stock #IGL02964
Quality Score
Status
Chromosome9
Chromosomal Location39456701-39464625 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 39461781 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 117 (T117A)
Ref Sequence ENSEMBL: ENSMUSP00000079205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080329] [ENSMUST00000214818]
Predicted Effect possibly damaging
Transcript: ENSMUST00000080329
AA Change: T117A

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000079205
Gene: ENSMUSG00000094745
AA Change: T117A

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: T114A

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 T C 11: 94,351,810 I1364V possibly damaging Het
Adamts19 T A 18: 58,988,965 I813K probably damaging Het
Adamtsl1 G T 4: 86,424,357 C1703F probably damaging Het
Atp2b4 T A 1: 133,730,565 T536S probably damaging Het
Capg T A 6: 72,562,844 I340N probably damaging Het
Casc3 T A 11: 98,828,923 M567K probably damaging Het
Chmp1a T C 8: 123,208,067 E50G probably damaging Het
Cryba1 T C 11: 77,719,381 probably benign Het
Dnah8 T A 17: 30,746,761 Y2356N probably damaging Het
Ercc6 T G 14: 32,570,103 S1141R probably benign Het
Exd2 T A 12: 80,480,528 V165D probably damaging Het
Fbln1 A T 15: 85,231,462 E233V probably damaging Het
Ftsj3 T C 11: 106,252,337 K384E probably damaging Het
Ggt5 A G 10: 75,604,128 I188V probably benign Het
Gm42742 A T 7: 127,016,846 S26T probably damaging Het
Gucy1a2 T A 9: 3,759,542 D449E probably damaging Het
Igfbp7 C T 5: 77,351,341 S239N possibly damaging Het
Klf11 C T 12: 24,655,627 A360V probably damaging Het
Kmt2e T A 5: 23,467,100 probably benign Het
Magea8 A T X: 154,986,682 C144S probably damaging Het
Med4 A G 14: 73,517,921 Q223R probably damaging Het
Mmd2 G T 5: 142,569,477 F153L probably damaging Het
Nav3 C A 10: 109,736,953 R1615L probably damaging Het
Nisch A G 14: 31,180,812 probably benign Het
Nr1i3 A T 1: 171,214,395 Y16F probably benign Het
Olfr1134 C A 2: 87,656,714 C69F probably damaging Het
Olfr828 A G 9: 18,815,728 C189R probably damaging Het
Olfr860 G A 9: 19,846,254 R122* probably null Het
Ppil6 C A 10: 41,507,483 H252N probably benign Het
Ppp6r2 C T 15: 89,259,175 P175L probably damaging Het
Psme4 T A 11: 30,791,095 Y90* probably null Het
Rbm20 C A 19: 53,813,702 L214I probably benign Het
Rhox2f T C X: 37,571,681 V24A probably benign Het
Scnm1 T C 3: 95,133,037 K96E probably benign Het
Sec16a A C 2: 26,419,723 D2090E probably benign Het
Smg6 T C 11: 74,930,750 probably null Het
Snx2 T C 18: 53,194,558 S119P probably benign Het
Stam A G 2: 14,115,968 probably benign Het
Sult2b1 T A 7: 45,735,274 E126V probably benign Het
Tor1aip1 T C 1: 156,035,844 E131G probably damaging Het
Ttn C T 2: 76,788,696 C14367Y probably damaging Het
Ubr4 T C 4: 139,407,820 F821S possibly damaging Het
Vmn1r32 T C 6: 66,552,938 N285D probably benign Het
Vmn2r23 T C 6: 123,741,782 L698P possibly damaging Het
Wnt8a T A 18: 34,542,421 L18Q possibly damaging Het
Zfp747 T C 7: 127,374,494 E168G probably benign Het
Other mutations in Olfr954
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02704:Olfr954 APN 9 39462283 missense probably damaging 0.98
IGL02793:Olfr954 APN 9 39461506 missense probably benign 0.09
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
X0060:Olfr954 UTSW 9 39462274 missense probably damaging 1.00
Z1177:Olfr954 UTSW 9 39461701 frame shift probably null
Posted On2015-12-18