Incidental Mutation 'R5009:Or2a12'
ID 390339
Institutional Source Beutler Lab
Gene Symbol Or2a12
Ensembl Gene ENSMUSG00000073111
Gene Name olfactory receptor family 2 subfamily A member 12
Synonyms MOR261-12, GA_x6K02T2P3E9-4632269-4631343, Olfr446
MMRRC Submission 042600-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R5009 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 42904167-42905093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 42904367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 67 (D67E)
Ref Sequence ENSEMBL: ENSMUSP00000150255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101461] [ENSMUST00000215369] [ENSMUST00000215686] [ENSMUST00000216199]
AlphaFold Q8VEV0
Predicted Effect probably damaging
Transcript: ENSMUST00000101461
AA Change: D67E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099005
Gene: ENSMUSG00000073111
AA Change: D67E

DomainStartEndE-ValueType
Pfam:7tm_4 28 305 1.7e-62 PFAM
Pfam:7TM_GPCR_Srsx 32 282 1.7e-5 PFAM
Pfam:7tm_1 38 287 3.2e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215369
AA Change: D67E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000215686
AA Change: D67E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216199
AA Change: D67E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.7278 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (91/91)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg2a T A 3: 37,487,426 (GRCm39) probably benign Het
Aim2 T C 1: 173,282,932 (GRCm39) Y5H probably damaging Het
Atosa G A 9: 74,916,171 (GRCm39) E257K probably damaging Het
Atp7b A G 8: 22,517,714 (GRCm39) S375P possibly damaging Het
BC106179 C A 16: 23,043,192 (GRCm39) probably benign Het
Brinp3 T A 1: 146,776,787 (GRCm39) N411K probably benign Het
Cacna1d A G 14: 29,801,289 (GRCm39) V1386A probably damaging Het
Cuzd1 T A 7: 130,913,252 (GRCm39) Y455F probably damaging Het
Dctd C T 8: 48,590,449 (GRCm39) probably benign Het
Dip2b T A 15: 100,093,665 (GRCm39) probably null Het
Dot1l G T 10: 80,607,030 (GRCm39) R108L probably benign Het
Dysf T C 6: 84,128,968 (GRCm39) S1413P probably damaging Het
Eea1 C A 10: 95,846,883 (GRCm39) R388S probably benign Het
Elavl1 C T 8: 4,351,723 (GRCm39) R131Q probably benign Het
Erich6b A G 14: 75,902,596 (GRCm39) T138A possibly damaging Het
Esr1 C T 10: 4,662,394 (GRCm39) T4I probably damaging Het
Ets1 T C 9: 32,644,295 (GRCm39) S152P possibly damaging Het
Fcsk C T 8: 111,614,462 (GRCm39) C609Y probably damaging Het
Flrt2 T C 12: 95,746,547 (GRCm39) V295A probably damaging Het
Gm13196 A G 2: 4,705,149 (GRCm39) noncoding transcript Het
Gm5965 T A 16: 88,575,312 (GRCm39) Y162N probably benign Het
Gm7853 A T 14: 35,811,466 (GRCm39) noncoding transcript Het
Gm8126 C T 14: 43,119,065 (GRCm39) A178V probably benign Het
Gpihbp1 A T 15: 75,469,570 (GRCm39) probably benign Het
Greb1 T C 12: 16,774,858 (GRCm39) T180A possibly damaging Het
Gsdme C T 6: 50,222,992 (GRCm39) V108M possibly damaging Het
Gtpbp4 T C 13: 9,039,102 (GRCm39) Y157C probably benign Het
Gvin3 A G 7: 106,200,767 (GRCm39) noncoding transcript Het
Hivep1 T A 13: 42,312,229 (GRCm39) F1490I probably benign Het
Il17ra T C 6: 120,459,168 (GRCm39) V773A probably benign Het
Kctd8 T A 5: 69,268,076 (GRCm39) T345S probably benign Het
Kdm3b T C 18: 34,957,763 (GRCm39) S1243P probably benign Het
Klhdc1 T C 12: 69,298,712 (GRCm39) V99A possibly damaging Het
Lars1 T G 18: 42,354,612 (GRCm39) E778D probably benign Het
Map7 C T 10: 20,137,664 (GRCm39) R279* probably null Het
Mdp1 C T 14: 55,896,683 (GRCm39) R126Q probably damaging Het
Mtbp A G 15: 55,466,583 (GRCm39) D532G probably benign Het
Mylk G A 16: 34,719,877 (GRCm39) V597I probably benign Het
Necab1 A G 4: 14,947,503 (GRCm39) probably benign Het
Nisch C T 14: 30,909,186 (GRCm39) probably benign Het
Nlrp1a T C 11: 71,013,531 (GRCm39) D573G probably benign Het
Noct C A 3: 51,155,482 (GRCm39) N83K probably damaging Het
Or10am5 A G 7: 6,517,546 (GRCm39) L294P probably damaging Het
Or1b1 C T 2: 36,995,467 (GRCm39) R65H possibly damaging Het
Or2ad1 T C 13: 21,326,435 (GRCm39) N264S probably benign Het
Or52n4b A G 7: 108,144,055 (GRCm39) I106V probably benign Het
Or6b13 C T 7: 139,781,751 (GRCm39) A311T probably benign Het
Or6c201 T C 10: 128,969,484 (GRCm39) H51R probably benign Het
Osgepl1 T A 1: 53,357,339 (GRCm39) V167D probably damaging Het
Pabpc6 T C 17: 9,887,489 (GRCm39) E354G probably damaging Het
Pgghg A C 7: 140,523,303 (GRCm39) D194A probably benign Het
Podnl1 A T 8: 84,852,887 (GRCm39) H19L probably benign Het
Pold1 G T 7: 44,183,326 (GRCm39) A977E probably benign Het
Poldip3 T C 15: 83,017,395 (GRCm39) T227A probably damaging Het
Prss43 A G 9: 110,656,489 (GRCm39) S59G possibly damaging Het
Ptpn14 T A 1: 189,582,731 (GRCm39) I526N probably benign Het
Ptprb T C 10: 116,184,032 (GRCm39) S1615P possibly damaging Het
Ptpro A G 6: 137,354,130 (GRCm39) K169E probably damaging Het
Rab15 T C 12: 76,847,341 (GRCm39) E114G probably damaging Het
Rcvrn A G 11: 67,586,550 (GRCm39) E103G probably benign Het
Repin1 T A 6: 48,571,779 (GRCm39) probably benign Het
Rita1 T A 5: 120,749,448 (GRCm39) K88N probably damaging Het
Rtkn2 T C 10: 67,877,239 (GRCm39) V433A probably benign Het
Runx1t1 T C 4: 13,865,231 (GRCm39) I314T possibly damaging Het
Serpinb9c A C 13: 33,338,414 (GRCm39) S190A probably benign Het
Shank2 C A 7: 143,623,916 (GRCm39) H300Q probably benign Het
Slc4a4 A G 5: 89,297,157 (GRCm39) probably null Het
Slc5a8 T C 10: 88,745,516 (GRCm39) S375P probably benign Het
Spns3 C A 11: 72,428,027 (GRCm39) W251L probably damaging Het
Spta1 A G 1: 174,067,789 (GRCm39) N2072S possibly damaging Het
Sptbn1 A G 11: 30,074,016 (GRCm39) V1351A probably benign Het
Sytl2 A T 7: 90,030,523 (GRCm39) probably benign Het
Tax1bp1 A G 6: 52,706,478 (GRCm39) probably benign Het
Tg A G 15: 66,568,435 (GRCm39) D1374G probably benign Het
Tlr1 A G 5: 65,083,567 (GRCm39) S337P probably damaging Het
Trp63 A T 16: 25,686,977 (GRCm39) D303V probably damaging Het
Ttn G A 2: 76,683,250 (GRCm39) probably benign Het
Txndc5 T C 13: 38,712,160 (GRCm39) probably null Het
Vmn2r77 T G 7: 86,451,015 (GRCm39) D300E possibly damaging Het
Zfp729a A T 13: 67,768,365 (GRCm39) N621K probably benign Het
Other mutations in Or2a12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02947:Or2a12 APN 6 42,904,830 (GRCm39) missense probably benign 0.24
IGL03164:Or2a12 APN 6 42,905,064 (GRCm39) nonsense probably null
PIT4519001:Or2a12 UTSW 6 42,904,578 (GRCm39) missense probably damaging 1.00
R1760:Or2a12 UTSW 6 42,904,431 (GRCm39) missense possibly damaging 0.90
R1883:Or2a12 UTSW 6 42,904,764 (GRCm39) missense probably damaging 0.99
R1884:Or2a12 UTSW 6 42,904,764 (GRCm39) missense probably damaging 0.99
R2180:Or2a12 UTSW 6 42,904,459 (GRCm39) missense probably benign 0.14
R3001:Or2a12 UTSW 6 42,904,888 (GRCm39) missense probably damaging 1.00
R3002:Or2a12 UTSW 6 42,904,888 (GRCm39) missense probably damaging 1.00
R4435:Or2a12 UTSW 6 42,905,023 (GRCm39) missense probably damaging 1.00
R4544:Or2a12 UTSW 6 42,904,348 (GRCm39) missense probably damaging 1.00
R4546:Or2a12 UTSW 6 42,904,348 (GRCm39) missense probably damaging 1.00
R5236:Or2a12 UTSW 6 42,904,715 (GRCm39) missense probably benign 0.04
R5290:Or2a12 UTSW 6 42,904,972 (GRCm39) missense probably damaging 0.98
R5297:Or2a12 UTSW 6 42,904,371 (GRCm39) missense probably benign 0.17
R7371:Or2a12 UTSW 6 42,904,469 (GRCm39) nonsense probably null
R9308:Or2a12 UTSW 6 42,904,749 (GRCm39) missense probably benign 0.14
R9364:Or2a12 UTSW 6 42,904,534 (GRCm39) missense probably damaging 1.00
R9404:Or2a12 UTSW 6 42,904,750 (GRCm39) missense probably benign 0.14
X0065:Or2a12 UTSW 6 42,904,990 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- ATCACTGAGGTCATTCTACTGGG -3'
(R):5'- AGCATACTCTCCAGCTCATGATC -3'

Sequencing Primer
(F):5'- ACTGAGGTCATTCTACTGGGATTCC -3'
(R):5'- TCCAGCTCATGATCAGTGTG -3'
Posted On 2016-06-06