Incidental Mutation 'R4544:Or2a12'
ID 333672
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 041779-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R4544 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 42904167-42905093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 42904348 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 61 (S61L)
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: S61L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099005
Gene: ENSMUSG00000073111
AA Change: S61L

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: S61L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000215686
AA Change: S61L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216199
AA Change: S61L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Meta Mutation Damage Score 0.4304 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 100% (58/58)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c20 A C 13: 4,557,843 (GRCm39) V201G probably damaging Het
Alg9 C T 9: 50,716,654 (GRCm39) T409M possibly damaging Het
Atf7 A G 15: 102,442,762 (GRCm39) V449A probably benign Het
C1s1 A G 6: 124,508,499 (GRCm39) S497P probably benign Het
Ccnyl1 G T 1: 64,762,735 (GRCm39) M347I probably benign Het
Chil4 C A 3: 106,117,922 (GRCm39) R116L probably damaging Het
Cmpk2 A G 12: 26,528,016 (GRCm39) E411G probably damaging Het
Cmya5 G A 13: 93,228,426 (GRCm39) R2221* probably null Het
Csmd1 A T 8: 16,760,652 (GRCm39) F161Y possibly damaging Het
Cspg4 T A 9: 56,795,913 (GRCm39) L1216Q possibly damaging Het
Dppa3 A G 6: 122,603,726 (GRCm39) probably benign Het
Ednra A G 8: 78,401,540 (GRCm39) probably null Het
Fancd2 A G 6: 113,549,603 (GRCm39) probably null Het
Fastkd1 C T 2: 69,542,655 (GRCm39) E51K probably damaging Het
Fndc1 T A 17: 7,992,376 (GRCm39) D440V unknown Het
Gm9934 A G 7: 92,702,188 (GRCm39) noncoding transcript Het
Hdac1-ps A T 17: 78,800,388 (GRCm39) T460S probably benign Het
Ifi205 T C 1: 173,854,139 (GRCm39) I171M possibly damaging Het
Ifi213 T C 1: 173,409,693 (GRCm39) probably null Het
Insig2 A T 1: 121,239,921 (GRCm39) probably benign Het
Kdm7a T C 6: 39,152,406 (GRCm39) R97G probably benign Het
Krt23 G A 11: 99,369,102 (GRCm39) T397M probably benign Het
Lepr G A 4: 101,625,425 (GRCm39) V527I possibly damaging Het
Lmo2 C T 2: 103,806,382 (GRCm39) P25L probably damaging Het
Lsr C T 7: 30,671,401 (GRCm39) V111M probably damaging Het
Mest T C 6: 30,740,679 (GRCm39) W13R probably damaging Het
Mfn2 A G 4: 147,971,909 (GRCm39) V224A probably benign Het
Mkx T C 18: 7,000,651 (GRCm39) Y97C probably damaging Het
Mndal A T 1: 173,703,230 (GRCm39) Y58* probably null Het
Myo9b T C 8: 71,780,585 (GRCm39) V494A probably damaging Het
Nek1 C T 8: 61,469,338 (GRCm39) Q132* probably null Het
Or6c5 A C 10: 129,074,027 (GRCm39) N3T probably damaging Het
Osbpl6 T C 2: 76,414,836 (GRCm39) V409A possibly damaging Het
Pde8a A T 7: 80,977,847 (GRCm39) R713S probably damaging Het
Pex10 T C 4: 155,154,952 (GRCm39) Y235H probably benign Het
Pik3cb T A 9: 98,921,812 (GRCm39) K1050I probably damaging Het
Prss56 A G 1: 87,112,364 (GRCm39) D85G probably damaging Het
Psg26 T C 7: 18,212,464 (GRCm39) N297S probably damaging Het
Rdh16f1 T C 10: 127,626,706 (GRCm39) L253S probably benign Het
Slc15a4 A G 5: 127,681,600 (GRCm39) probably null Het
Slc7a8 C G 14: 54,973,247 (GRCm39) G240A possibly damaging Het
Slc8b1 G A 5: 120,669,218 (GRCm39) probably null Het
Sorbs1 G A 19: 40,300,294 (GRCm39) T575M probably damaging Het
Syne3 T A 12: 104,925,728 (GRCm39) K313M probably damaging Het
Tas2r108 A G 6: 40,470,742 (GRCm39) T73A probably benign Het
Ttn T C 2: 76,652,932 (GRCm39) probably null Het
Uba52rt C T 4: 3,973,244 (GRCm39) R106H probably benign Het
Ubr3 G A 2: 69,786,437 (GRCm39) M850I probably benign Het
Vmn2r78 A T 7: 86,570,399 (GRCm39) M306L probably benign Het
Vmn2r9 T G 5: 108,995,551 (GRCm39) M366L probably benign Het
Zan C G 5: 137,382,096 (GRCm39) M5150I unknown 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
R4546:Or2a12 UTSW 6 42,904,348 (GRCm39) missense probably damaging 1.00
R5009:Or2a12 UTSW 6 42,904,367 (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'- ACATGGATCACTGAGGTCATTC -3'
(R):5'- CTCTCCAGCTCATGATCAGTGTG -3'

Sequencing Primer
(F):5'- CATGGATCACTGAGGTCATTCTACTG -3'
(R):5'- CAGCTCATGATCAGTGTGTATTTC -3'
Posted On 2015-08-18