Incidental Mutation 'R3752:Or6a2'
ID 271258
Institutional Source Beutler Lab
Gene Symbol Or6a2
Ensembl Gene ENSMUSG00000070417
Gene Name olfactory receptor family 6 subfamily A member 2
Synonyms Olfr41, Olfr2, I54, GA_x6K02T2PBJ9-9381439-9380456, MOR103-15, I7
MMRRC Submission 040737-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.262) question?
Stock # R3752 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 106600082-106601812 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 106600682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 128 (Y128*)
Ref Sequence ENSEMBL: ENSMUSP00000150093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094109] [ENSMUST00000207280] [ENSMUST00000208147] [ENSMUST00000211432] [ENSMUST00000214105] [ENSMUST00000216375]
AlphaFold Q9QWU6
Predicted Effect probably null
Transcript: ENSMUST00000094109
AA Change: Y128*
SMART Domains Protein: ENSMUSP00000091656
Gene: ENSMUSG00000070417
AA Change: Y128*

DomainStartEndE-ValueType
Pfam:7tm_4 31 313 9.2e-53 PFAM
Pfam:7tm_1 42 295 3e-21 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000207280
AA Change: Y128*
Predicted Effect probably null
Transcript: ENSMUST00000208147
AA Change: Y128*
Predicted Effect probably null
Transcript: ENSMUST00000211432
AA Change: Y128*
Predicted Effect probably null
Transcript: ENSMUST00000214105
AA Change: Y128*
Predicted Effect probably null
Transcript: ENSMUST00000216375
AA Change: Y128*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217764
Meta Mutation Damage Score 0.9718 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 100% (49/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik T A 1: 11,588,904 (GRCm39) I107N probably damaging Het
Adh1 G A 3: 137,994,555 (GRCm39) V292I probably benign Het
Brd1 C T 15: 88,573,821 (GRCm39) V1093I possibly damaging Het
Cep170 A G 1: 176,610,061 (GRCm39) probably benign Het
Col4a4 G A 1: 82,458,215 (GRCm39) P1120S probably damaging Het
Cramp1 A T 17: 25,190,532 (GRCm39) N1067K probably damaging Het
Dhrs7c A G 11: 67,702,281 (GRCm39) T90A probably damaging Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Eml6 C A 11: 29,759,360 (GRCm39) V798F probably benign Het
Ext1 A T 15: 52,939,306 (GRCm39) V581E probably damaging Het
Fbf1 C T 11: 116,038,622 (GRCm39) R833Q probably benign Het
Fbln1 T A 15: 85,111,279 (GRCm39) C144* probably null Het
Gm10521 A G 1: 171,723,712 (GRCm39) T8A unknown Het
Hapln4 A T 8: 70,539,615 (GRCm39) L215F probably damaging Het
Hmgcr T C 13: 96,799,624 (GRCm39) I157V probably damaging Het
Irak4 T C 15: 94,459,476 (GRCm39) I364T probably damaging Het
Lama3 T A 18: 12,640,086 (GRCm39) C1700S probably damaging Het
Lama5 C T 2: 179,829,015 (GRCm39) C2042Y probably damaging Het
Lrrc9 T G 12: 72,507,580 (GRCm39) Y360* probably null Het
Lrrd1 T A 5: 3,900,282 (GRCm39) S196T probably benign Het
Mdc1 C T 17: 36,156,821 (GRCm39) A76V probably damaging Het
Mei1 C T 15: 81,970,383 (GRCm39) T428M probably damaging Het
Mib2 A G 4: 155,739,741 (GRCm39) F810S probably damaging Het
Nobox T G 6: 43,284,167 (GRCm39) K126N probably damaging Het
Ogn C T 13: 49,776,307 (GRCm39) L249F probably benign Het
Or10ag59 A G 2: 87,406,057 (GRCm39) I210V probably benign Het
Paqr8 A G 1: 21,005,856 (GRCm39) T337A probably benign Het
Pcdhb15 T A 18: 37,606,810 (GRCm39) V14E probably damaging Het
Perm1 A T 4: 156,302,403 (GRCm39) I316L probably benign Het
Plxnb2 G A 15: 89,041,458 (GRCm39) probably benign Het
Rab3il1 A T 19: 10,007,841 (GRCm39) T227S probably benign Het
Rag2 A T 2: 101,461,121 (GRCm39) Y477F probably damaging Het
Ralgapa2 A T 2: 146,263,551 (GRCm39) V722E possibly damaging Het
Rbp3 A T 14: 33,677,969 (GRCm39) E639V probably damaging Het
Sh2b1 A G 7: 126,067,959 (GRCm39) V565A probably damaging Het
Skint6 T C 4: 112,700,096 (GRCm39) probably benign Het
Slc47a1 C T 11: 61,235,207 (GRCm39) R542Q possibly damaging Het
Slc6a5 T C 7: 49,586,062 (GRCm39) probably null Het
Slc9a8 C A 2: 167,299,272 (GRCm39) H215N probably benign Het
Slit1 C T 19: 41,635,406 (GRCm39) probably null Het
Snx1 A T 9: 66,012,933 (GRCm39) probably null Het
Tbc1d30 T A 10: 121,108,073 (GRCm39) N443I probably damaging Het
Tex15 T A 8: 34,061,443 (GRCm39) M565K probably benign Het
Traf3ip1 T C 1: 91,428,639 (GRCm39) probably benign Het
Traf3ip1 A G 1: 91,446,019 (GRCm39) D384G probably damaging Het
Vldlr G A 19: 27,215,731 (GRCm39) E243K probably damaging Het
Vps35 A G 8: 86,001,460 (GRCm39) S453P probably benign Het
Zfp644 A G 5: 106,784,249 (GRCm39) V766A probably benign Het
Other mutations in Or6a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02270:Or6a2 APN 7 106,600,630 (GRCm39) missense probably damaging 1.00
IGL02620:Or6a2 APN 7 106,600,825 (GRCm39) nonsense probably null
IGL02942:Or6a2 APN 7 106,600,561 (GRCm39) missense possibly damaging 0.88
R1171:Or6a2 UTSW 7 106,600,791 (GRCm39) missense probably benign
R1956:Or6a2 UTSW 7 106,600,342 (GRCm39) missense probably damaging 1.00
R2128:Or6a2 UTSW 7 106,600,455 (GRCm39) missense probably damaging 1.00
R2342:Or6a2 UTSW 7 106,600,116 (GRCm39) missense probably benign
R2351:Or6a2 UTSW 7 106,600,883 (GRCm39) nonsense probably null
R4197:Or6a2 UTSW 7 106,600,245 (GRCm39) missense probably damaging 0.97
R4237:Or6a2 UTSW 7 106,600,536 (GRCm39) missense probably damaging 1.00
R4787:Or6a2 UTSW 7 106,600,293 (GRCm39) missense probably benign 0.00
R4795:Or6a2 UTSW 7 106,600,542 (GRCm39) missense probably damaging 1.00
R4796:Or6a2 UTSW 7 106,600,542 (GRCm39) missense probably damaging 1.00
R5268:Or6a2 UTSW 7 106,600,111 (GRCm39) missense probably benign 0.00
R5412:Or6a2 UTSW 7 106,600,842 (GRCm39) missense probably damaging 0.99
R5474:Or6a2 UTSW 7 106,600,296 (GRCm39) missense probably damaging 0.98
R5542:Or6a2 UTSW 7 106,600,286 (GRCm39) missense probably damaging 1.00
R5792:Or6a2 UTSW 7 106,600,650 (GRCm39) missense possibly damaging 0.61
R6149:Or6a2 UTSW 7 106,600,807 (GRCm39) missense probably benign
R7552:Or6a2 UTSW 7 106,600,534 (GRCm39) missense probably benign
R7838:Or6a2 UTSW 7 106,600,514 (GRCm39) nonsense probably null
R8177:Or6a2 UTSW 7 106,600,663 (GRCm39) missense probably damaging 1.00
R9666:Or6a2 UTSW 7 106,600,099 (GRCm39) missense probably benign 0.03
R9787:Or6a2 UTSW 7 106,600,899 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCTGCTGTGGACATGTCAG -3'
(R):5'- CATTCCTGGAGATTTGGTATGTCAC -3'

Sequencing Primer
(F):5'- TCAGTGCATGACAAGTTGAGC -3'
(R):5'- GTCACTGTTACGATTCCTAAGATGC -3'
Posted On 2015-03-18