Incidental Mutation 'R5984:Or8k32'
ID 481545
Institutional Source Beutler Lab
Gene Symbol Or8k32
Ensembl Gene ENSMUSG00000075179
Gene Name olfactory receptor family 8 subfamily K member 32
Synonyms GA_x6K02T2Q125-48024195-48023254, MOR189-1, Olfr1079
MMRRC Submission 043251-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R5984 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 86368310-86369257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 86368512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 249 (V249E)
Ref Sequence ENSEMBL: ENSMUSP00000097467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099882] [ENSMUST00000111582] [ENSMUST00000216480]
AlphaFold Q8VF52
Predicted Effect probably damaging
Transcript: ENSMUST00000099882
AA Change: V249E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000097467
Gene: ENSMUSG00000075179
AA Change: V249E

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 175 1.2e-7 PFAM
Pfam:7tm_1 43 292 7.1e-32 PFAM
Pfam:7tm_4 141 285 1.3e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111582
AA Change: V247E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107208
Gene: ENSMUSG00000075179
AA Change: V247E

DomainStartEndE-ValueType
Pfam:7tm_4 33 308 1.6e-48 PFAM
Pfam:7TM_GPCR_Srsx 37 175 1.2e-7 PFAM
Pfam:7tm_1 43 292 2.4e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216480
AA Change: V247E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.1%
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
9830107B12Rik T A 17: 48,439,165 (GRCm39) L130F probably benign Het
Alox12 T C 11: 70,137,881 (GRCm39) T420A possibly damaging Het
Ano5 T C 7: 51,243,412 (GRCm39) I795T probably damaging Het
Atpsckmt C T 15: 31,617,065 (GRCm39) R99* probably null Het
Crlf2 G A 5: 109,703,469 (GRCm39) P92L probably damaging Het
Dgat1 T C 15: 76,386,458 (GRCm39) Y492C probably damaging Het
Dna2 G C 10: 62,798,285 (GRCm39) probably null Het
Dst A G 1: 34,211,344 (GRCm39) H982R probably benign Het
F13b A G 1: 139,435,950 (GRCm39) D252G probably damaging Het
Fgfr3 A T 5: 33,887,049 (GRCm39) E151V probably damaging Het
Gabpb1 T C 2: 126,488,573 (GRCm39) T264A probably damaging Het
Gemin5 T C 11: 58,047,587 (GRCm39) E329G probably damaging Het
Git1 C T 11: 77,397,309 (GRCm39) P721S possibly damaging Het
Hcn3 T C 3: 89,055,570 (GRCm39) E559G probably benign Het
Invs G A 4: 48,421,674 (GRCm39) A769T probably benign Het
Ism2 T A 12: 87,333,809 (GRCm39) T79S possibly damaging Het
Lamb1 G A 12: 31,377,773 (GRCm39) E1673K possibly damaging Het
Lmtk2 T A 5: 144,111,656 (GRCm39) L792H probably benign Het
Lnpk A T 2: 74,352,543 (GRCm39) S380T probably benign Het
Mff A G 1: 82,708,848 (GRCm39) I66V probably benign Het
Mtor A G 4: 148,623,284 (GRCm39) K2045E probably benign Het
Mycbp2 C A 14: 103,364,120 (GRCm39) W4393L probably damaging Het
Or1e31 T A 11: 73,690,407 (GRCm39) M59L possibly damaging Het
Pcdha5 A G 18: 37,094,733 (GRCm39) D414G probably damaging Het
Pknox2 T C 9: 36,835,022 (GRCm39) E149G probably damaging Het
Plxdc2 A G 2: 16,665,666 (GRCm39) R240G probably benign Het
Polr3d A T 14: 70,676,927 (GRCm39) F389Y possibly damaging Het
Prex1 T G 2: 166,427,664 (GRCm39) D826A probably damaging Het
Prss50 T A 9: 110,691,454 (GRCm39) S253T probably damaging Het
Ptgfrn T C 3: 100,957,459 (GRCm39) D705G probably damaging Het
Ptpn21 T A 12: 98,655,335 (GRCm39) N544I probably damaging Het
Rbm5 G A 9: 107,622,141 (GRCm39) P611L probably damaging Het
Rev3l A T 10: 39,618,685 (GRCm39) probably benign Het
Rnf139 T C 15: 58,770,595 (GRCm39) Y207H probably benign Het
Scn11a C T 9: 119,613,082 (GRCm39) R836H probably benign Het
Slc30a1 A G 1: 191,639,212 (GRCm39) T32A probably damaging Het
Smad4 T A 18: 73,810,982 (GRCm39) M1L probably benign Het
Sos1 T C 17: 80,759,561 (GRCm39) D190G possibly damaging Het
Sptbn1 C T 11: 30,068,464 (GRCm39) D1677N probably damaging Het
Tmem132e G A 11: 82,335,923 (GRCm39) D1002N probably damaging Het
Usp8 C A 2: 126,584,401 (GRCm39) Q526K probably benign Het
Wt1 A G 2: 105,002,597 (GRCm39) S488G probably benign Het
Zbtb43 A G 2: 33,344,272 (GRCm39) S318P probably benign Het
Other mutations in Or8k32
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01109:Or8k32 APN 2 86,368,674 (GRCm39) missense probably benign 0.12
IGL02289:Or8k32 APN 2 86,368,792 (GRCm39) missense probably benign 0.07
IGL02794:Or8k32 APN 2 86,368,492 (GRCm39) missense possibly damaging 0.80
R1498:Or8k32 UTSW 2 86,368,902 (GRCm39) missense probably benign 0.00
R1923:Or8k32 UTSW 2 86,368,857 (GRCm39) missense probably damaging 1.00
R2195:Or8k32 UTSW 2 86,369,247 (GRCm39) missense probably benign 0.05
R2211:Or8k32 UTSW 2 86,368,857 (GRCm39) missense probably damaging 1.00
R2925:Or8k32 UTSW 2 86,368,891 (GRCm39) missense probably damaging 1.00
R4370:Or8k32 UTSW 2 86,368,764 (GRCm39) missense possibly damaging 0.78
R4430:Or8k32 UTSW 2 86,368,731 (GRCm39) missense probably damaging 0.98
R4678:Or8k32 UTSW 2 86,369,077 (GRCm39) missense possibly damaging 0.95
R4790:Or8k32 UTSW 2 86,369,224 (GRCm39) missense possibly damaging 0.63
R4996:Or8k32 UTSW 2 86,368,615 (GRCm39) missense probably benign 0.02
R5905:Or8k32 UTSW 2 86,369,113 (GRCm39) missense possibly damaging 0.91
R6028:Or8k32 UTSW 2 86,369,113 (GRCm39) missense possibly damaging 0.91
R6878:Or8k32 UTSW 2 86,369,109 (GRCm39) missense probably damaging 1.00
R7579:Or8k32 UTSW 2 86,368,872 (GRCm39) missense probably damaging 0.98
R7942:Or8k32 UTSW 2 86,368,566 (GRCm39) missense probably benign 0.42
R8079:Or8k32 UTSW 2 86,368,725 (GRCm39) missense possibly damaging 0.60
R8465:Or8k32 UTSW 2 86,368,731 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TCTTGAGAGAAGAGGAGTTCTTTTC -3'
(R):5'- TCTCTGCTCTGCACAAATACAG -3'

Sequencing Primer
(F):5'- CCTGTGACTTCTATGAGAAAT -3'
(R):5'- TCTGCACAAATACAGATAAAATCGG -3'
Posted On 2017-06-26