Incidental Mutation 'R7800:Or2ag12'
ID 600477
Institutional Source Beutler Lab
Gene Symbol Or2ag12
Ensembl Gene ENSMUSG00000051680
Gene Name olfactory receptor family 2 subfamily AG member 12
Synonyms Olfr693, MOR283-8, GA_x6K02T2PBJ9-9055944-9054994
MMRRC Submission 045855-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # R7800 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 106276741-106277692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106276781 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 304 (V304A)
Ref Sequence ENSEMBL: ENSMUSP00000150203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057817] [ENSMUST00000215541]
AlphaFold Q8VF89
Predicted Effect probably benign
Transcript: ENSMUST00000057817
AA Change: V304A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000059679
Gene: ENSMUSG00000051680
AA Change: V304A

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.2e-48 PFAM
Pfam:7tm_1 41 290 5.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215541
AA Change: V304A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
Meta Mutation Damage Score 0.1477 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 96% (47/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,078,698 (GRCm39) D1264G probably benign Het
Ace T C 11: 105,876,884 (GRCm39) F1122S probably damaging Het
Actr10 T G 12: 70,990,283 (GRCm39) Y112D probably benign Het
Cacnb1 T G 11: 97,900,121 (GRCm39) I346L possibly damaging Het
Camsap2 T C 1: 136,209,639 (GRCm39) T607A probably damaging Het
Cby3 T C 11: 50,250,175 (GRCm39) F32S probably damaging Het
Cers5 G T 15: 99,634,122 (GRCm39) H409N probably benign Het
Ces1h A T 8: 94,106,322 (GRCm39) L11H Het
Clcnkb T C 4: 141,141,833 (GRCm39) Y51C probably benign Het
Cnnm2 A G 19: 46,866,420 (GRCm39) E856G probably benign Het
Cnot1 A G 8: 96,491,690 (GRCm39) V378A probably benign Het
Crisp4 A C 1: 18,198,973 (GRCm39) S154A probably benign Het
Disp1 C T 1: 182,880,550 (GRCm39) R241Q probably benign Het
Ermard G A 17: 15,277,065 (GRCm39) R429H probably benign Het
Extl1 C T 4: 134,098,929 (GRCm39) G34D probably benign Het
Gen1 T C 12: 11,291,863 (GRCm39) D707G probably benign Het
H1f3 C A 13: 23,739,541 (GRCm39) T93N possibly damaging Het
Igkv5-37 A C 6: 69,940,499 (GRCm39) S48R possibly damaging Het
Ilvbl C T 10: 78,419,809 (GRCm39) A571V possibly damaging Het
Itgb1 A G 8: 129,439,718 (GRCm39) K136E possibly damaging Het
Lhx8 A G 3: 154,027,284 (GRCm39) F253L probably damaging Het
Naa25 A G 5: 121,562,594 (GRCm39) T459A possibly damaging Het
Nr3c2 A G 8: 77,636,621 (GRCm39) Y574C probably damaging Het
Nrxn1 C T 17: 91,396,635 (GRCm39) probably benign Het
Ntrk3 T A 7: 77,952,488 (GRCm39) R576S probably benign Het
Nup210l A G 3: 90,041,904 (GRCm39) Y403C probably damaging Het
Or8b53 T G 9: 38,667,914 (GRCm39) L310W probably damaging Het
Otogl T A 10: 107,722,376 (GRCm39) Y326F probably damaging Het
Pcdha1 T A 18: 37,064,426 (GRCm39) D363E probably damaging Het
Pcdhb3 T A 18: 37,434,974 (GRCm39) N313K probably benign Het
Pcdhb9 A C 18: 37,534,602 (GRCm39) S199R probably benign Het
Pde4dip C T 3: 97,622,599 (GRCm39) D1537N probably damaging Het
Pinx1 A G 14: 64,156,984 (GRCm39) K304E probably benign Het
Pnlip T C 19: 58,670,134 (GRCm39) V458A probably benign Het
Polr3a C A 14: 24,534,455 (GRCm39) M60I probably null Het
Qrich2 G T 11: 116,347,686 (GRCm39) S1046* probably null Het
Rigi T C 4: 40,211,618 (GRCm39) E650G probably benign Het
Rps6ka5 G A 12: 100,524,824 (GRCm39) P638S probably damaging Het
Slc6a13 T A 6: 121,298,658 (GRCm39) N158K probably damaging Het
Sord T C 2: 122,089,561 (GRCm39) V187A probably damaging Het
Sult2a2 A G 7: 13,468,710 (GRCm39) T59A probably benign Het
Thbs2 T C 17: 14,896,558 (GRCm39) D777G probably damaging Het
Tmed9 A G 13: 55,743,345 (GRCm39) D159G probably benign Het
Trbc1 A G 6: 41,516,195 (GRCm39) I142V Het
Usp17ld A G 7: 102,900,041 (GRCm39) V297A probably damaging Het
Vmn1r167 A T 7: 23,204,069 (GRCm39) *316R probably null Het
Wdr59 C A 8: 112,248,570 (GRCm39) R15L Het
Zfp189 C T 4: 49,529,367 (GRCm39) P157S possibly damaging Het
Zfp407 C T 18: 84,578,800 (GRCm39) G771D probably damaging Het
Other mutations in Or2ag12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Or2ag12 APN 7 106,277,040 (GRCm39) missense probably damaging 1.00
IGL01135:Or2ag12 APN 7 106,277,400 (GRCm39) missense probably benign 0.41
IGL03247:Or2ag12 APN 7 106,276,754 (GRCm39) missense probably benign 0.01
R0206:Or2ag12 UTSW 7 106,276,781 (GRCm39) missense probably benign 0.03
R1125:Or2ag12 UTSW 7 106,277,214 (GRCm39) missense possibly damaging 0.46
R1873:Or2ag12 UTSW 7 106,277,691 (GRCm39) start codon destroyed probably damaging 1.00
R1969:Or2ag12 UTSW 7 106,276,877 (GRCm39) missense probably damaging 0.99
R1970:Or2ag12 UTSW 7 106,276,877 (GRCm39) missense probably damaging 0.99
R1971:Or2ag12 UTSW 7 106,276,877 (GRCm39) missense probably damaging 0.99
R1972:Or2ag12 UTSW 7 106,277,426 (GRCm39) missense probably benign 0.01
R1973:Or2ag12 UTSW 7 106,277,426 (GRCm39) missense probably benign 0.01
R2570:Or2ag12 UTSW 7 106,276,874 (GRCm39) missense probably benign 0.41
R3975:Or2ag12 UTSW 7 106,276,992 (GRCm39) missense probably damaging 1.00
R4840:Or2ag12 UTSW 7 106,277,330 (GRCm39) missense probably damaging 1.00
R5569:Or2ag12 UTSW 7 106,277,690 (GRCm39) start codon destroyed probably null 1.00
R6759:Or2ag12 UTSW 7 106,277,100 (GRCm39) missense probably benign
R6842:Or2ag12 UTSW 7 106,277,093 (GRCm39) missense probably damaging 1.00
R7108:Or2ag12 UTSW 7 106,277,255 (GRCm39) missense probably benign 0.03
R7565:Or2ag12 UTSW 7 106,277,333 (GRCm39) missense probably damaging 1.00
R9225:Or2ag12 UTSW 7 106,276,976 (GRCm39) missense probably benign 0.01
X0025:Or2ag12 UTSW 7 106,277,456 (GRCm39) missense probably damaging 1.00
Z1088:Or2ag12 UTSW 7 106,277,664 (GRCm39) missense probably benign 0.02
Predicted Primers PCR Primer
(F):5'- TGAAATACCTCAGGAAGACAACATG -3'
(R):5'- AAAGCCCTTGTTACCTGCTC -3'

Sequencing Primer
(F):5'- GACAACATGCAAACAGCTTTTAC -3'
(R):5'- CCACCTGACTGTAGTTGGGATGTAC -3'
Posted On 2019-11-26