Incidental Mutation 'R4355:Or12k8'
ID 327469
Institutional Source Beutler Lab
Gene Symbol Or12k8
Ensembl Gene ENSMUSG00000075378
Gene Name olfactory receptor family 12 subfamily K member 8
Synonyms GA_x6K02T2NLDC-33777519-33776551, MOR159-3, Olfr361
MMRRC Submission 041108-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R4355 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 36974790-36975758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 36974942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 273 (V273F)
Ref Sequence ENSEMBL: ENSMUSP00000149770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000100145] [ENSMUST00000214969] [ENSMUST00000216663]
AlphaFold Q8VF16
Predicted Effect probably benign
Transcript: ENSMUST00000100145
AA Change: V273F

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097723
Gene: ENSMUSG00000075378
AA Change: V273F

DomainStartEndE-ValueType
Pfam:7tm_4 31 307 1.5e-44 PFAM
Pfam:7tm_1 41 289 2.3e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122434
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126779
Predicted Effect probably benign
Transcript: ENSMUST00000214969
AA Change: V273F

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000216663
AA Change: V273F

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (57/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T G 8: 44,023,222 (GRCm39) Q89H probably benign Het
Adgrb1 T C 15: 74,415,511 (GRCm39) F697S probably damaging Het
Adgrl2 A T 3: 148,544,788 (GRCm39) V769E probably damaging Het
Aldh7a1 A T 18: 56,681,566 (GRCm39) F173L probably null Het
Bcl3 G T 7: 19,545,505 (GRCm39) C208* probably null Het
Bmal1 A G 7: 112,902,613 (GRCm39) I421V possibly damaging Het
Casz1 T C 4: 149,036,792 (GRCm39) S1685P unknown Het
Cep250 A G 2: 155,833,445 (GRCm39) E1789G probably damaging Het
Cep76 A T 18: 67,759,710 (GRCm39) D334E probably benign Het
Clca3b A T 3: 144,531,219 (GRCm39) probably null Het
Col9a3 A G 2: 180,248,271 (GRCm39) S208G probably benign Het
Ddx47 T C 6: 134,998,468 (GRCm39) V388A probably benign Het
Dync1h1 C T 12: 110,599,333 (GRCm39) A1896V possibly damaging Het
Eif2ak2 T A 17: 79,165,963 (GRCm39) R411S probably benign Het
F7 A G 8: 13,084,774 (GRCm39) T267A probably benign Het
Fras1 C A 5: 96,848,101 (GRCm39) D1770E probably benign Het
G2e3 T A 12: 51,412,120 (GRCm39) Y387N probably benign Het
Hspg2 C T 4: 137,256,729 (GRCm39) L1491F probably damaging Het
Ighv3-4 T C 12: 114,217,260 (GRCm39) I110M probably benign Het
Itgb5 T A 16: 33,665,367 (GRCm39) C28S probably damaging Het
Itprid2 A G 2: 79,472,342 (GRCm39) N132S probably benign Het
Kbtbd11 C A 8: 15,078,578 (GRCm39) N392K probably damaging Het
Kcnmb4 A G 10: 116,309,189 (GRCm39) S80P possibly damaging Het
Kif21a C T 15: 90,855,036 (GRCm39) C721Y probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Klrc3 T C 6: 129,616,125 (GRCm39) M189V probably benign Het
Macf1 T A 4: 123,368,884 (GRCm39) E394V possibly damaging Het
Mrgprb4 C T 7: 47,848,449 (GRCm39) G160R possibly damaging Het
Myb A G 10: 21,028,516 (GRCm39) S116P probably damaging Het
Nf2 G A 11: 4,730,613 (GRCm39) Q513* probably null Het
Nmnat3 C T 9: 98,292,205 (GRCm39) T150M possibly damaging Het
Obi1 A G 14: 104,716,693 (GRCm39) V560A probably benign Het
Or11g27 T C 14: 50,771,216 (GRCm39) C116R possibly damaging Het
Patj T G 4: 98,538,691 (GRCm39) C210W possibly damaging Het
Pde3b A G 7: 114,015,522 (GRCm39) H246R probably benign Het
Pnp2 A G 14: 51,197,082 (GRCm39) H56R probably benign Het
Prkg1 A G 19: 30,546,629 (GRCm39) probably benign Het
Rhbdf1 C T 11: 32,166,236 (GRCm39) S8N probably damaging Het
Rimbp3 A G 16: 17,027,556 (GRCm39) K327E possibly damaging Het
Rsph6a T A 7: 18,801,003 (GRCm39) probably null Het
Ryr2 T C 13: 11,664,698 (GRCm39) N3535S probably benign Het
Ston1 T G 17: 88,944,436 (GRCm39) V614G probably damaging Het
Svep1 T A 4: 58,138,695 (GRCm39) T466S possibly damaging Het
Tas2r109 A T 6: 132,957,144 (GRCm39) I262N probably benign Het
Tmtc1 T C 6: 148,256,596 (GRCm39) probably benign Het
Tshz2 G A 2: 169,726,858 (GRCm39) E16K possibly damaging Het
Ufsp2 T A 8: 46,438,502 (GRCm39) S193R possibly damaging Het
Ugt2b5 C A 5: 87,287,622 (GRCm39) E182* probably null Het
Usp43 A G 11: 67,782,290 (GRCm39) V376A probably benign Het
Utp15 A T 13: 98,395,755 (GRCm39) F76I possibly damaging Het
Wdr62 A C 7: 29,941,673 (GRCm39) L1141R probably damaging Het
Zfp418 T A 7: 7,175,161 (GRCm39) M18K probably benign Het
Other mutations in Or12k8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Or12k8 APN 2 36,975,407 (GRCm39) missense possibly damaging 0.94
IGL02210:Or12k8 APN 2 36,975,631 (GRCm39) missense possibly damaging 0.54
IGL03180:Or12k8 APN 2 36,975,722 (GRCm39) missense possibly damaging 0.58
R0571:Or12k8 UTSW 2 36,975,346 (GRCm39) missense probably benign 0.00
R1715:Or12k8 UTSW 2 36,975,188 (GRCm39) missense probably damaging 1.00
R1853:Or12k8 UTSW 2 36,975,232 (GRCm39) missense probably damaging 1.00
R2403:Or12k8 UTSW 2 36,974,986 (GRCm39) missense probably benign 0.34
R3009:Or12k8 UTSW 2 36,975,089 (GRCm39) missense probably benign 0.00
R3713:Or12k8 UTSW 2 36,975,517 (GRCm39) missense possibly damaging 0.73
R4476:Or12k8 UTSW 2 36,975,073 (GRCm39) missense probably damaging 1.00
R5191:Or12k8 UTSW 2 36,974,990 (GRCm39) missense probably benign 0.00
R5387:Or12k8 UTSW 2 36,975,731 (GRCm39) missense possibly damaging 0.58
R5529:Or12k8 UTSW 2 36,974,921 (GRCm39) missense possibly damaging 0.67
R5891:Or12k8 UTSW 2 36,974,990 (GRCm39) missense probably benign 0.00
R7078:Or12k8 UTSW 2 36,975,608 (GRCm39) missense possibly damaging 0.93
R7208:Or12k8 UTSW 2 36,975,670 (GRCm39) missense probably benign 0.26
R7793:Or12k8 UTSW 2 36,974,933 (GRCm39) missense possibly damaging 0.81
R8007:Or12k8 UTSW 2 36,974,855 (GRCm39) missense probably damaging 1.00
R8843:Or12k8 UTSW 2 36,975,307 (GRCm39) missense probably damaging 1.00
R8970:Or12k8 UTSW 2 36,975,478 (GRCm39) missense probably benign 0.00
R9155:Or12k8 UTSW 2 36,975,016 (GRCm39) missense probably benign 0.01
R9595:Or12k8 UTSW 2 36,975,204 (GRCm39) missense possibly damaging 0.78
Z1176:Or12k8 UTSW 2 36,975,648 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTAACCCTTGCCTCTCAGGAG -3'
(R):5'- ATCTTCACTGAGGGTGTAGCTG -3'

Sequencing Primer
(F):5'- CTCTCAGGAGATTCACTGGCATG -3'
(R):5'- TAGCTGTGGTGGTAAGCCCC -3'
Posted On 2015-07-07