Incidental Mutation 'R5290:Or2a12'
ID 424647
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 042873-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R5290 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 42904167-42905093 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 42904972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 269 (K269R)
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: K269R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099005
Gene: ENSMUSG00000073111
AA Change: K269R

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: K269R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215686
AA Change: K269R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000216199
AA Change: K269R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.2661 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (70/72)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik A T 16: 90,351,098 (GRCm39) noncoding transcript Het
2700049A03Rik C A 12: 71,235,565 (GRCm39) P1172T probably benign Het
Abi3bp T A 16: 56,462,838 (GRCm39) probably null Het
Apod T A 16: 31,129,884 (GRCm39) H24L probably damaging Het
Arfgef3 T C 10: 18,476,208 (GRCm39) E1537G probably damaging Het
B020004C17Rik T C 14: 57,254,036 (GRCm39) V53A possibly damaging Het
Ccdc113 C A 8: 96,267,424 (GRCm39) probably null Het
Cd7 T G 11: 120,928,936 (GRCm39) D105A probably damaging Het
Celsr3 C T 9: 108,720,357 (GRCm39) T2550M probably benign Het
Cibar1 T C 4: 12,171,195 (GRCm39) Q86R probably benign Het
Col6a5 C T 9: 105,823,282 (GRCm39) G25D unknown Het
Cps1 A G 1: 67,211,868 (GRCm39) M679V probably benign Het
Dnai4 A T 4: 102,906,730 (GRCm39) D694E probably benign Het
Dync1h1 A T 12: 110,581,502 (GRCm39) T316S probably benign Het
Edrf1 T C 7: 133,252,295 (GRCm39) Y449H probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Flg2 A T 3: 93,127,873 (GRCm39) I2262L unknown Het
Flnc T C 6: 29,457,553 (GRCm39) L2417P probably damaging Het
Gabrp A T 11: 33,517,310 (GRCm39) Y121N probably damaging Het
Gdpd4 A G 7: 97,615,543 (GRCm39) T123A possibly damaging Het
Gpr162 C A 6: 124,838,232 (GRCm39) M139I probably benign Het
Greb1l G A 18: 10,542,427 (GRCm39) E1341K probably damaging Het
Gsn G A 2: 35,186,484 (GRCm39) S410N probably benign Het
Gtf2f2 T C 14: 76,135,089 (GRCm39) Y212C probably damaging Het
Hao2 C T 3: 98,784,493 (GRCm39) A291T probably damaging Het
Igkv1-133 A G 6: 67,702,563 (GRCm39) T94A possibly damaging Het
Irf2bp1 G A 7: 18,738,923 (GRCm39) A188T possibly damaging Het
Itpr1 T C 6: 108,383,106 (GRCm39) V1478A possibly damaging Het
Kdm5b T C 1: 134,549,837 (GRCm39) probably null Het
Kif5b A T 18: 6,234,882 (GRCm39) D49E probably damaging Het
Lmbr1l A G 15: 98,810,123 (GRCm39) W113R probably damaging Het
Lrp2 T C 2: 69,343,698 (GRCm39) D887G probably damaging Het
Lrrc14 T A 15: 76,598,143 (GRCm39) M291K probably benign Het
Lypd11 T C 7: 24,422,836 (GRCm39) E79G probably benign Het
Mgarp G A 3: 51,296,387 (GRCm39) A205V possibly damaging Het
Msl2 T C 9: 100,978,606 (GRCm39) probably null Het
Nfix G A 8: 85,440,406 (GRCm39) Q487* probably null Het
Notch4 T C 17: 34,784,263 (GRCm39) V22A probably benign Het
Npc1l1 T A 11: 6,172,221 (GRCm39) Q823L probably benign Het
Obox3 T C 7: 15,360,774 (GRCm39) K122E probably benign Het
Or10ab5 C T 7: 108,245,755 (GRCm39) M9I probably benign Het
Or8s10 T C 15: 98,336,213 (GRCm39) Y288H probably damaging Het
Plekhh3 T A 11: 101,057,397 (GRCm39) M287L possibly damaging Het
Prpf3 A T 3: 95,760,857 (GRCm39) I15K probably benign Het
Rpl12-ps1 G T 1: 36,997,423 (GRCm39) noncoding transcript Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Setd2 T C 9: 110,446,899 (GRCm39) V2489A probably damaging Het
Slfn10-ps T A 11: 82,919,851 (GRCm39) noncoding transcript Het
Smad2 C T 18: 76,395,795 (GRCm39) P78L probably damaging Het
Spen G A 4: 141,201,127 (GRCm39) T2500I probably damaging Het
Stmnd1 A G 13: 46,453,074 (GRCm39) D250G probably benign Het
Tjp2 T G 19: 24,108,568 (GRCm39) E181D probably benign Het
Tmem131l T C 3: 83,806,572 (GRCm39) D1478G probably benign Het
Trim72 G T 7: 127,609,176 (GRCm39) R326L probably benign Het
Ttn A T 2: 76,727,584 (GRCm39) probably benign Het
Vmn1r177 A T 7: 23,565,498 (GRCm39) M126K probably damaging Het
Vmn1r57 A G 7: 5,224,319 (GRCm39) I281M probably damaging Het
Vmn2r108 C A 17: 20,691,665 (GRCm39) R286L probably benign Het
Wdr25 T C 12: 108,863,968 (GRCm39) S38P probably benign Het
Zfp937 T A 2: 150,080,229 (GRCm39) Y86* probably null Het
Zfr2 CTCAGACTGGTGTCAGAC CTCAGAC 10: 81,082,544 (GRCm39) probably null Het
Zswim1 C T 2: 164,667,845 (GRCm39) H366Y probably damaging 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
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
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'- AGTCTCCTATACACGAATCCTGG -3'
(R):5'- ACAGGCGTTTGAGTGTACATG -3'

Sequencing Primer
(F):5'- TATACACGAATCCTGGTGGCC -3'
(R):5'- GTGGACCAGGCTAGCTTCAAATTC -3'
Posted On 2016-08-04