Incidental Mutation 'R1590:Olfr12'
ID177777
Institutional Source Beutler Lab
Gene Symbol Olfr12
Ensembl Gene ENSMUSG00000061616
Gene Nameolfactory receptor 12
SynonymsGA_x6K02T2R7CC-81134096-81133095, MOR208-5
MMRRC Submission 039627-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #R1590 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location92617788-92623412 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 92620745 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 280 (V280M)
Ref Sequence ENSEMBL: ENSMUSP00000150858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081274] [ENSMUST00000213247]
Predicted Effect possibly damaging
Transcript: ENSMUST00000081274
AA Change: V280M

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080027
Gene: ENSMUSG00000061616
AA Change: V280M

DomainStartEndE-ValueType
transmembrane domain 13 30 N/A INTRINSIC
Pfam:7tm_4 38 314 8e-53 PFAM
Pfam:7tm_1 48 297 1.3e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213247
AA Change: V280M

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 97% (69/71)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432K21Rik A T 8: 84,167,086 Q294L probably benign Het
Aamp A G 1: 74,283,211 S95P probably damaging Het
Ankmy1 T C 1: 92,888,675 Y239C probably damaging Het
Atp12a T C 14: 56,380,055 S601P probably damaging Het
Atp1b3 T C 9: 96,343,349 T89A probably benign Het
B3galt4 G A 17: 33,950,839 R142C probably damaging Het
Btnl2 A T 17: 34,361,140 I216F possibly damaging Het
Cabs1 A T 5: 87,979,631 H47L probably damaging Het
Ccdc68 T A 18: 69,940,180 D66E probably benign Het
Cdc42ep4 T C 11: 113,728,566 D333G possibly damaging Het
Ckmt1 G A 2: 121,363,522 D389N possibly damaging Het
Dact1 G T 12: 71,317,575 V340F probably benign Het
Dnah2 A G 11: 69,422,754 probably null Het
Dnah2 T C 11: 69,521,198 T246A probably benign Het
Ecm1 G A 3: 95,735,963 R342C probably damaging Het
Efcab14 A G 4: 115,756,549 probably benign Het
Eprs A G 1: 185,401,510 T795A probably damaging Het
Esp36 T A 17: 38,417,311 E26D possibly damaging Het
Fpr-rs7 T C 17: 20,113,416 T271A probably benign Het
Fsip2 A T 2: 82,982,787 H3150L probably benign Het
Gimap7 G A 6: 48,724,019 V180M probably damaging Het
Gm6614 C T 6: 141,980,872 S576N probably benign Het
Gtf3c1 T C 7: 125,676,661 H531R possibly damaging Het
Herc1 T A 9: 66,491,953 probably benign Het
Hip1r A G 5: 124,002,140 Y1061C probably benign Het
Ipo11 T C 13: 106,886,717 Y420C probably damaging Het
Ipo8 T C 6: 148,810,665 probably null Het
Itga10 C T 3: 96,651,738 probably benign Het
Klhl1 A T 14: 96,368,636 M243K probably damaging Het
Lrp2 A G 2: 69,466,763 probably null Het
Mag T C 7: 30,901,852 E439G probably damaging Het
Mcm3ap T A 10: 76,496,541 F1231I probably benign Het
Mcmdc2 C T 1: 9,916,555 Q204* probably null Het
Mpl A C 4: 118,444,024 L548R probably damaging Het
Mrps2 C T 2: 28,469,488 A119V probably benign Het
Myo18b G A 5: 112,875,266 Q87* probably null Het
Nfat5 A G 8: 107,293,890 Y22C probably damaging Het
Nnt T A 13: 119,386,661 I232L possibly damaging Het
Olfr146 T C 9: 39,018,957 N195D probably benign Het
Olfr437 A G 6: 43,167,912 N285D probably damaging Het
Parp2 C T 14: 50,810,544 P76S probably benign Het
Pick1 C T 15: 79,245,301 H169Y probably benign Het
Prtg T A 9: 72,842,807 F164L probably benign Het
Pygb A G 2: 150,817,663 D422G possibly damaging Het
Samd9l C A 6: 3,375,761 C500F probably benign Het
Sbno1 A C 5: 124,384,504 N1083K possibly damaging Het
Sept7 C T 9: 25,277,604 S77F probably damaging Het
Slc25a44 A G 3: 88,416,007 V264A possibly damaging Het
Slf2 G T 19: 44,942,073 E530* probably null Het
Svs2 A G 2: 164,237,658 S110P possibly damaging Het
Tmbim7 G T 5: 3,665,338 probably null Het
Tpgs2 T C 18: 25,140,573 D177G probably damaging Het
Uba1y T A Y: 826,893 F516L probably damaging Het
Ulk1 A G 5: 110,795,766 V211A probably damaging Het
Vmn1r237 T A 17: 21,314,039 I8N probably damaging Het
Vmn2r103 G T 17: 19,794,234 M429I probably benign Het
Vmn2r112 T C 17: 22,615,008 probably null Het
Vmn2r84 T C 10: 130,391,480 probably null Het
Vwa8 C T 14: 78,908,230 R116C probably damaging Het
Other mutations in Olfr12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Olfr12 APN 1 92620199 missense possibly damaging 0.88
IGL01309:Olfr12 APN 1 92620335 missense probably damaging 1.00
IGL02025:Olfr12 APN 1 92620547 missense probably benign 0.00
IGL02517:Olfr12 APN 1 92620461 missense probably benign
IGL02837:Olfr12 UTSW 1 92620682 missense possibly damaging 0.73
R1394:Olfr12 UTSW 1 92620545 missense probably benign 0.02
R1395:Olfr12 UTSW 1 92620545 missense probably benign 0.02
R1778:Olfr12 UTSW 1 92620620 missense possibly damaging 0.94
R1924:Olfr12 UTSW 1 92620803 missense probably damaging 1.00
R2011:Olfr12 UTSW 1 92620749 missense probably benign 0.01
R3877:Olfr12 UTSW 1 92620083 missense probably damaging 1.00
R5286:Olfr12 UTSW 1 92620362 missense probably benign 0.38
R5513:Olfr12 UTSW 1 92620380 missense probably benign
R5727:Olfr12 UTSW 1 92620178 missense probably benign 0.00
R5905:Olfr12 UTSW 1 92620142 missense possibly damaging 0.49
R5921:Olfr12 UTSW 1 92620622 missense probably benign 0.01
R7614:Olfr12 UTSW 1 92620461 missense probably damaging 0.99
R7959:Olfr12 UTSW 1 92620307 missense probably damaging 0.96
R8073:Olfr12 UTSW 1 92620084 missense probably damaging 1.00
R8161:Olfr12 UTSW 1 92620356 missense probably benign 0.00
R8680:Olfr12 UTSW 1 92619921 missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TTGACCACTTCTACTGTGATGTGCC -3'
(R):5'- GATCTACACAGAAGCATTCCCTCCG -3'

Sequencing Primer
(F):5'- ATCATTGTGAGCACCACCTTAG -3'
(R):5'- ACCTCTGCAGAGCATCTTTC -3'
Posted On2014-04-24