Incidental Mutation 'R7579:Or8k32'
ID 586622
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 045633-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R7579 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 86368310-86369257 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 86368872 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 127 (C127Y)
Ref Sequence ENSEMBL: ENSMUSP00000107208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099882] [ENSMUST00000111582] [ENSMUST00000216480]
AlphaFold Q8VF52
Predicted Effect probably damaging
Transcript: ENSMUST00000099882
AA Change: C129Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097467
Gene: ENSMUSG00000075179
AA Change: C129Y

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: C127Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000107208
Gene: ENSMUSG00000075179
AA Change: C127Y

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: C127Y

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (51/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 G T 7: 119,292,933 (GRCm39) R21L probably benign Het
Adgb T A 10: 10,286,562 (GRCm39) R120* probably null Het
Adgra3 C A 5: 50,144,977 (GRCm39) A539S probably benign Het
Ank2 A G 3: 126,740,047 (GRCm39) S1946P unknown Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cdc20b A T 13: 113,173,582 (GRCm39) probably null Het
Cfh T G 1: 140,036,328 (GRCm39) D730A possibly damaging Het
Dennd1a T C 2: 37,748,444 (GRCm39) H345R probably damaging Het
Dhx36 T C 3: 62,388,294 (GRCm39) S614G possibly damaging Het
Dio1 C T 4: 107,149,583 (GRCm39) V240I possibly damaging Het
Dnah12 A G 14: 26,492,460 (GRCm39) D1200G probably benign Het
Dpy19l4 A T 4: 11,265,909 (GRCm39) S680T probably benign Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Fcrlb T C 1: 170,735,416 (GRCm39) probably null Het
Gad1 T A 2: 70,417,476 (GRCm39) I253K possibly damaging Het
Gars1 A G 6: 55,054,688 (GRCm39) D665G probably damaging Het
Gldn A G 9: 54,245,648 (GRCm39) T400A probably benign Het
Gm1110 C A 9: 26,795,122 (GRCm39) V455L possibly damaging Het
Gm11444 A G 11: 85,741,069 (GRCm39) V30A unknown Het
Gm5134 T C 10: 75,800,271 (GRCm39) S51P probably damaging Het
Gprc6a C T 10: 51,502,883 (GRCm39) A327T probably benign Het
Gstt2 A T 10: 75,670,019 (GRCm39) D34E probably benign Het
Icam2 A G 11: 106,271,589 (GRCm39) F78L probably damaging Het
Jakmip1 T G 5: 37,284,802 (GRCm39) C630G possibly damaging Het
Kcnu1 A T 8: 26,386,686 (GRCm39) N523I probably damaging Het
Klf10 A G 15: 38,297,282 (GRCm39) S253P probably benign Het
Mmd2 A T 5: 142,594,361 (GRCm39) M1K probably null Het
Mroh2b G T 15: 4,960,543 (GRCm39) G759C probably benign Het
Or10w3 T C 19: 13,704,465 (GRCm39) L280P probably damaging Het
Or2b7 A T 13: 21,740,176 (GRCm39) N5K probably benign Het
Orc5 A G 5: 22,755,197 (GRCm39) F22S possibly damaging Het
Prlr A G 15: 10,329,021 (GRCm39) I499V probably benign Het
Ptbp1 A G 10: 79,694,954 (GRCm39) N94S probably benign Het
Rassf3 C A 10: 121,312,103 (GRCm39) probably benign Het
Rbm33 C T 5: 28,573,264 (GRCm39) P455S probably damaging Het
Sgcd C G 11: 47,016,481 (GRCm39) G127A possibly damaging Het
Slc22a13 A G 9: 119,024,226 (GRCm39) I336T possibly damaging Het
Slc25a31 A T 3: 40,679,471 (GRCm39) D312V possibly damaging Het
Slc37a4 G A 9: 44,312,818 (GRCm39) S324N probably benign Het
Slco1a5 A G 6: 142,221,207 (GRCm39) V13A probably benign Het
Srgap2 T C 1: 131,220,371 (GRCm39) H907R probably damaging Het
Supv3l1 A C 10: 62,271,487 (GRCm39) V381G probably damaging Het
Supv3l1 C A 10: 62,271,488 (GRCm39) V381L possibly damaging Het
Syne1 T C 10: 5,299,324 (GRCm39) D977G probably damaging Het
Syt3 T A 7: 44,040,272 (GRCm39) Y168* probably null Het
Tshz1 A T 18: 84,032,790 (GRCm39) Y539* probably null Het
Ttll13 A G 7: 79,907,981 (GRCm39) K501R probably benign Het
Ttn G A 2: 76,612,732 (GRCm39) Q17116* probably null Het
Vcan T C 13: 89,840,577 (GRCm39) T1656A probably damaging Het
Vmn1r73 G T 7: 11,491,082 (GRCm39) C300F probably benign Het
Vmn2r9 T C 5: 108,992,948 (GRCm39) K521E probably damaging Het
Zdhhc11 T A 13: 74,130,885 (GRCm39) probably benign Het
Zfp760 T C 17: 21,941,907 (GRCm39) S361P possibly damaging Het
Zranb2 A G 3: 157,246,309 (GRCm39) Y114C probably damaging 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
R5984:Or8k32 UTSW 2 86,368,512 (GRCm39) missense probably damaging 1.00
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
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'- TCTGTATTTGTGCAGAGCAGAG -3'
(R):5'- ATCAAGGCTGCAAACACCTATG -3'

Sequencing Primer
(F):5'- CTGTATTTGTGCAGAGCAGAGATATC -3'
(R):5'- GACACCTAGCTATCACAGATCTTGG -3'
Posted On 2019-10-24