Incidental Mutation 'R6858:Or1a1'
ID 535380
Institutional Source Beutler Lab
Gene Symbol Or1a1
Ensembl Gene ENSMUSG00000070378
Gene Name olfactory receptor family 1 subfamily A member 1
Synonyms GA_x6K02T2P1NL-4348188-4349129, MOR125-5_p, Olfr403, IA7
MMRRC Submission 044960-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R6858 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 74086331-74087272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 74086925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 199 (M199L)
Ref Sequence ENSEMBL: ENSMUSP00000145741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076675] [ENSMUST00000206114]
AlphaFold Q7TRX2
Predicted Effect probably benign
Transcript: ENSMUST00000076675
AA Change: M199L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000075971
Gene: ENSMUSG00000070378
AA Change: M199L

DomainStartEndE-ValueType
Pfam:7tm_4 31 306 7.3e-59 PFAM
Pfam:7tm_1 41 238 7.2e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206114
AA Change: M199L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 96% (49/51)
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
Aldob T C 4: 49,538,796 (GRCm39) T241A probably benign Het
Arid4a A G 12: 71,070,283 (GRCm39) I65V probably benign Het
Bhmt2 C T 13: 93,807,948 (GRCm39) E47K probably damaging Het
Bpifa3 G A 2: 153,979,514 (GRCm39) G213D probably benign Het
C4b C G 17: 34,948,805 (GRCm39) A1548P probably damaging Het
Ccdc39 A G 3: 33,874,017 (GRCm39) V605A probably damaging Het
Cept1 A T 3: 106,420,195 (GRCm39) probably null Het
Cntrl T C 2: 35,052,107 (GRCm39) probably null Het
Col3a1 A G 1: 45,385,144 (GRCm39) D87G probably damaging Het
Crim1 A T 17: 78,623,056 (GRCm39) E418V probably damaging Het
Crtac1 T C 19: 42,307,174 (GRCm39) I196M possibly damaging Het
Crtap T C 9: 114,209,084 (GRCm39) Y320C probably damaging Het
Cttnbp2 A G 6: 18,448,452 (GRCm39) V27A probably damaging Het
Cyp2c69 G A 19: 39,866,009 (GRCm39) L195F probably benign Het
Cyp2d26 G A 15: 82,678,284 (GRCm39) R31C probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fign G T 2: 63,810,157 (GRCm39) T371K probably benign Het
Fryl T C 5: 73,222,375 (GRCm39) T2069A probably damaging Het
Gm3486 A G 14: 41,210,322 (GRCm39) I53T probably damaging Het
Gprc5d T C 6: 135,093,313 (GRCm39) N198S possibly damaging Het
Ighv1-42 A G 12: 114,900,966 (GRCm39) S40P probably damaging Het
Itga8 A G 2: 12,204,892 (GRCm39) V515A probably benign Het
Kidins220 A T 12: 25,058,542 (GRCm39) I523L possibly damaging Het
Lmx1a A T 1: 167,660,450 (GRCm39) N245I probably damaging Het
Med22 T C 2: 26,795,949 (GRCm39) D157G possibly damaging Het
Ola1 T C 2: 72,927,574 (GRCm39) H335R probably damaging Het
Or4c12 A G 2: 89,774,087 (GRCm39) I124T probably damaging Het
Or6c213 A G 10: 129,574,333 (GRCm39) F151S probably damaging Het
Or7e166 T C 9: 19,624,765 (GRCm39) I214T probably damaging Het
Or8h9 A G 2: 86,789,034 (GRCm39) I256T probably benign Het
Pde1a T A 2: 79,959,502 (GRCm39) probably benign Het
Pdgfrb G A 18: 61,198,219 (GRCm39) G304D probably benign Het
Potegl T C 2: 23,102,676 (GRCm39) V138A possibly damaging Het
Prune2 T A 19: 17,095,470 (GRCm39) C325S possibly damaging Het
Ptk2b T C 14: 66,450,847 (GRCm39) I40V probably damaging Het
Qrich1 A G 9: 108,411,333 (GRCm39) D286G probably damaging Het
Scn5a T C 9: 119,321,156 (GRCm39) I1469V probably benign Het
Serpina3k G A 12: 104,311,504 (GRCm39) A361T possibly damaging Het
Slc25a23 A G 17: 57,365,171 (GRCm39) Y73H probably damaging Het
Tmco3 A G 8: 13,363,924 (GRCm39) D82G probably damaging Het
Trbv28 G T 6: 41,248,624 (GRCm39) M51I probably damaging Het
Unc13b A T 4: 43,165,828 (GRCm39) H204L possibly damaging Het
Vamp5 G A 6: 72,357,424 (GRCm39) probably benign Het
Vmn1r25 T C 6: 57,955,996 (GRCm39) S98G probably benign Het
Vmn2r2 A G 3: 64,044,915 (GRCm39) F77S probably damaging Het
Vmn2r79 A T 7: 86,686,580 (GRCm39) M654L probably benign Het
Zfp985 A T 4: 147,667,764 (GRCm39) K211* probably null Het
Zwilch C T 9: 64,060,869 (GRCm39) D328N probably damaging Het
Other mutations in Or1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01589:Or1a1 APN 11 74,086,587 (GRCm39) missense probably damaging 1.00
IGL01716:Or1a1 APN 11 74,087,207 (GRCm39) missense probably benign 0.01
R0598:Or1a1 UTSW 11 74,086,658 (GRCm39) missense possibly damaging 0.90
R1168:Or1a1 UTSW 11 74,087,247 (GRCm39) missense probably benign
R1440:Or1a1 UTSW 11 74,086,505 (GRCm39) missense probably damaging 1.00
R1657:Or1a1 UTSW 11 74,086,722 (GRCm39) missense probably damaging 0.98
R1834:Or1a1 UTSW 11 74,086,479 (GRCm39) missense probably benign 0.00
R1990:Or1a1 UTSW 11 74,086,989 (GRCm39) missense probably damaging 0.99
R1991:Or1a1 UTSW 11 74,086,989 (GRCm39) missense probably damaging 0.99
R2206:Or1a1 UTSW 11 74,087,150 (GRCm39) missense possibly damaging 0.87
R2207:Or1a1 UTSW 11 74,087,150 (GRCm39) missense possibly damaging 0.87
R3103:Or1a1 UTSW 11 74,086,901 (GRCm39) missense probably benign 0.39
R4662:Or1a1 UTSW 11 74,086,542 (GRCm39) missense probably damaging 1.00
R4844:Or1a1 UTSW 11 74,086,902 (GRCm39) missense probably damaging 0.98
R5336:Or1a1 UTSW 11 74,086,859 (GRCm39) missense probably damaging 1.00
R5918:Or1a1 UTSW 11 74,086,944 (GRCm39) missense probably damaging 0.96
R7175:Or1a1 UTSW 11 74,087,004 (GRCm39) nonsense probably null
R7362:Or1a1 UTSW 11 74,086,412 (GRCm39) missense probably benign 0.01
R7670:Or1a1 UTSW 11 74,087,033 (GRCm39) missense probably damaging 1.00
R8677:Or1a1 UTSW 11 74,086,415 (GRCm39) missense probably benign 0.00
R8957:Or1a1 UTSW 11 74,086,772 (GRCm39) missense probably damaging 1.00
R9029:Or1a1 UTSW 11 74,086,563 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- CAGTCGCCCGCTTCATTATG -3'
(R):5'- GGAAATACATGCCCATGACTGTC -3'

Sequencing Primer
(F):5'- GCCCGCTTCATTATGCAACAATTATG -3'
(R):5'- TGCCCATGACTGTCCCATAATAC -3'
Posted On 2018-09-12