Incidental Mutation 'R6651:Or4c12b'
ID 527769
Institutional Source Beutler Lab
Gene Symbol Or4c12b
Ensembl Gene ENSMUSG00000045148
Gene Name olfactory receptor family 4 subfamily C member 12B
Synonyms MOR232-4, GA_x6K02T2Q125-51257221-51258135, Olfr1255
MMRRC Submission 044772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.080) question?
Stock # R6651 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 89646672-89647604 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89647240 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 190 (E190V)
Ref Sequence ENSEMBL: ENSMUSP00000060602 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057369] [ENSMUST00000214508]
AlphaFold A2AUA4
Predicted Effect probably benign
Transcript: ENSMUST00000057369
AA Change: E190V

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000060602
Gene: ENSMUSG00000045148
AA Change: E190V

DomainStartEndE-ValueType
Pfam:7tm_4 35 309 5.2e-44 PFAM
Pfam:7tm_1 45 291 4.9e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214508
AA Change: E184V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 98% (50/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik A C 7: 43,147,496 (GRCm39) S198A possibly damaging Het
Adamts15 A T 9: 30,833,448 (GRCm39) I29N probably damaging Het
Ankrd61 A T 5: 143,830,438 (GRCm39) I33N probably damaging Het
Arl6ip1 C T 7: 117,728,708 (GRCm39) R7H probably benign Het
Atp8a2 A T 14: 60,011,470 (GRCm39) D946E probably benign Het
Cc2d2b A T 19: 40,766,573 (GRCm39) Q114L probably damaging Het
Ccdc163 T A 4: 116,566,261 (GRCm39) S16R possibly damaging Het
Chil6 C T 3: 106,311,576 (GRCm39) C68Y probably damaging Het
Cngb3 G T 4: 19,375,231 (GRCm39) R287L probably benign Het
Crem C T 18: 3,325,428 (GRCm39) R16H probably benign Het
Cyp4f16 C T 17: 32,763,118 (GRCm39) R188C probably benign Het
Dap A G 15: 31,273,353 (GRCm39) D46G probably damaging Het
Dnah7c C A 1: 46,688,500 (GRCm39) T1890K probably benign Het
Dnah7c A G 1: 46,688,511 (GRCm39) S1894G probably benign Het
Enam T C 5: 88,650,776 (GRCm39) Y687H probably damaging Het
Fzd4 A T 7: 89,054,010 (GRCm39) D39V possibly damaging Het
Ggta1 G T 2: 35,292,306 (GRCm39) H334N probably benign Het
Golga3 C T 5: 110,365,996 (GRCm39) R1254* probably null Het
Gpt2 G A 8: 86,244,681 (GRCm39) E325K probably benign Het
Helz2 C T 2: 180,881,350 (GRCm39) W377* probably null Het
Hfm1 T C 5: 106,995,553 (GRCm39) D1286G probably benign Het
Hhatl T C 9: 121,613,768 (GRCm39) R425G probably damaging Het
Hivep3 G A 4: 119,980,146 (GRCm39) R1728H probably damaging Het
Hyal1 A G 9: 107,456,570 (GRCm39) Y419C probably damaging Het
Ighv8-12 A T 12: 115,611,644 (GRCm39) D84E possibly damaging Het
Itln1 A G 1: 171,345,940 (GRCm39) F271L possibly damaging Het
Klra7 C A 6: 130,206,908 (GRCm39) L64F probably benign Het
Kmt2a A T 9: 44,740,108 (GRCm39) C1878* probably null Het
Mia2 C A 12: 59,201,148 (GRCm39) Q825K possibly damaging Het
Mmp12 C A 9: 7,355,345 (GRCm39) P294Q possibly damaging Het
Nedd4 A G 9: 72,638,553 (GRCm39) N480S possibly damaging Het
Or4e5 C T 14: 52,728,250 (GRCm39) R57Q probably benign Het
Pax6 T A 2: 105,516,175 (GRCm39) M151K probably benign Het
Pgm2 A G 5: 64,269,437 (GRCm39) Y508C probably benign Het
Ptpn20 T C 14: 33,354,897 (GRCm39) F324S probably damaging Het
Recql A G 6: 142,310,160 (GRCm39) probably null Het
Rerg A G 6: 137,033,384 (GRCm39) V97A probably damaging Het
Rffl C A 11: 82,703,605 (GRCm39) C106F probably damaging Het
Scaper T G 9: 55,765,788 (GRCm39) N499T probably benign Het
Sfxn3 G A 19: 45,038,354 (GRCm39) probably null Het
Slc36a4 A G 9: 15,634,874 (GRCm39) S139G probably benign Het
Slco2b1 T A 7: 99,316,376 (GRCm39) M385L probably benign Het
Smg8 T C 11: 86,977,372 (GRCm39) T70A probably benign Het
Spats2l A T 1: 57,985,336 (GRCm39) K463M probably damaging Het
Thbs4 T C 13: 92,893,044 (GRCm39) I715V probably benign Het
Tmem234 T A 4: 129,501,264 (GRCm39) M113K possibly damaging Het
Vmn2r10 T C 5: 109,143,488 (GRCm39) I821V probably null Het
Vmn2r116 A T 17: 23,607,805 (GRCm39) K458* probably null Het
Vmn2r76 T A 7: 85,878,059 (GRCm39) N446I possibly damaging Het
Vmn2r95 T A 17: 18,660,622 (GRCm39) Y345N probably damaging Het
Other mutations in Or4c12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01643:Or4c12b APN 2 89,647,017 (GRCm39) missense probably damaging 1.00
IGL02902:Or4c12b APN 2 89,647,508 (GRCm39) nonsense probably null
IGL03077:Or4c12b APN 2 89,647,486 (GRCm39) missense probably damaging 1.00
IGL03087:Or4c12b APN 2 89,647,015 (GRCm39) missense probably damaging 1.00
IGL03371:Or4c12b APN 2 89,647,509 (GRCm39) missense possibly damaging 0.64
R0683:Or4c12b UTSW 2 89,647,522 (GRCm39) missense probably damaging 1.00
R1428:Or4c12b UTSW 2 89,646,725 (GRCm39) missense probably damaging 1.00
R1567:Or4c12b UTSW 2 89,647,528 (GRCm39) missense probably damaging 1.00
R3810:Or4c12b UTSW 2 89,647,395 (GRCm39) missense probably damaging 1.00
R3812:Or4c12b UTSW 2 89,647,395 (GRCm39) missense probably damaging 1.00
R4900:Or4c12b UTSW 2 89,647,312 (GRCm39) missense possibly damaging 0.58
R5538:Or4c12b UTSW 2 89,646,964 (GRCm39) missense probably damaging 1.00
R5770:Or4c12b UTSW 2 89,646,893 (GRCm39) missense probably damaging 1.00
R5894:Or4c12b UTSW 2 89,647,557 (GRCm39) missense possibly damaging 0.59
R5942:Or4c12b UTSW 2 89,646,684 (GRCm39) nonsense probably null
R6263:Or4c12b UTSW 2 89,647,104 (GRCm39) missense probably damaging 1.00
R6271:Or4c12b UTSW 2 89,646,906 (GRCm39) missense probably damaging 0.99
R7298:Or4c12b UTSW 2 89,646,865 (GRCm39) missense probably damaging 0.98
R7379:Or4c12b UTSW 2 89,647,033 (GRCm39) missense probably benign 0.00
R7465:Or4c12b UTSW 2 89,646,880 (GRCm39) missense probably damaging 1.00
R7546:Or4c12b UTSW 2 89,647,538 (GRCm39) missense probably damaging 0.99
R7546:Or4c12b UTSW 2 89,647,363 (GRCm39) missense probably benign 0.00
R8458:Or4c12b UTSW 2 89,647,494 (GRCm39) missense probably damaging 0.98
R9513:Or4c12b UTSW 2 89,647,553 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGACAGTGATGGCTTATGACCG -3'
(R):5'- AAACAACTACTGTGATGTGTGACAC -3'

Sequencing Primer
(F):5'- GCTATGTGGCCATCTGCAAAC -3'
(R):5'- CACAGGTGGAGAGAGCTTTGC -3'
Posted On 2018-07-23