Incidental Mutation 'R1168:Or1a1'
ID 101359
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 039241-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # R1168 (G1)
Quality Score 219
Status Not validated
Chromosome 11
Chromosomal Location 74086331-74087272 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 74087247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 306 (H306R)
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: H306R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075971
Gene: ENSMUSG00000070378
AA Change: H306R

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: H306R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206247
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 88.8%
Validation Efficiency
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
1110002E22Rik T C 3: 137,773,661 (GRCm39) V950A probably benign Het
Adgrb3 A T 1: 25,865,280 (GRCm39) S188T probably benign Het
Ahr A T 12: 35,554,531 (GRCm39) N529K possibly damaging Het
Akr1c21 A G 13: 4,633,836 (GRCm39) N302D probably benign Het
Aldh8a1 T A 10: 21,260,530 (GRCm39) probably null Het
Alpk3 A T 7: 80,753,105 (GRCm39) K1554M probably damaging Het
Arhgef5 T A 6: 43,250,330 (GRCm39) H360Q probably benign Het
Cacna1a A G 8: 85,306,130 (GRCm39) I1293V probably damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Cd200r4 T A 16: 44,653,307 (GRCm39) W72R probably damaging Het
Ces2e A T 8: 105,653,646 (GRCm39) D28V possibly damaging Het
Cfap20dc T C 14: 8,442,939 (GRCm38) N610S probably benign Het
Cfap45 T C 1: 172,373,264 (GRCm39) Y534H probably damaging Het
Cfap54 A T 10: 92,773,782 (GRCm39) C87S probably damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Chrna4 T A 2: 180,675,931 (GRCm39) M67L possibly damaging Het
Cplx3 G A 9: 57,515,595 (GRCm39) R427C probably benign Het
Cts7 T A 13: 61,501,631 (GRCm39) N290Y probably damaging Het
Enpp6 A T 8: 47,483,489 (GRCm39) M94L probably damaging Het
Fam83d C T 2: 158,610,443 (GRCm39) A137V probably benign Het
Foxd2 C T 4: 114,764,875 (GRCm39) A382T possibly damaging Het
Galnt11 T G 5: 25,455,244 (GRCm39) S193R probably damaging Het
Gapvd1 A T 2: 34,594,481 (GRCm39) D856E probably damaging Het
Gclm T A 3: 122,056,337 (GRCm39) H86Q possibly damaging Het
Gipc2 T C 3: 151,813,634 (GRCm39) T220A probably benign Het
Gm12185 G T 11: 48,806,182 (GRCm39) N336K possibly damaging Het
Gm5431 A T 11: 48,786,191 (GRCm39) S61R probably benign Het
Gorasp2 C T 2: 70,518,744 (GRCm39) P260S probably damaging Het
H2-M10.6 A G 17: 37,124,052 (GRCm39) Q172R probably benign Het
Ibsp A G 5: 104,450,018 (GRCm39) I6V probably damaging Het
Iqsec1 T C 6: 90,666,658 (GRCm39) Y593C probably damaging Het
Irag1 T C 7: 110,495,138 (GRCm39) K429R probably damaging Het
Itln1 G T 1: 171,359,119 (GRCm39) Y61* probably null Het
Kif21a G A 15: 90,877,956 (GRCm39) T284I probably damaging Het
Kif3a G A 11: 53,489,139 (GRCm39) G621R probably damaging Het
Klb A G 5: 65,536,317 (GRCm39) Y549C probably damaging Het
Lrrc37 T C 11: 103,509,776 (GRCm39) probably benign Het
Map4 T C 9: 109,864,032 (GRCm39) V419A probably benign Het
Mastl A T 2: 23,023,144 (GRCm39) D526E probably benign Het
Mtif2 A G 11: 29,486,914 (GRCm39) D308G probably benign Het
Ncald A G 15: 37,397,578 (GRCm39) F34S probably damaging Het
Ndc1 A G 4: 107,253,009 (GRCm39) T593A probably benign Het
Ndst3 C T 3: 123,400,617 (GRCm39) V15I probably benign Het
Nup214 A G 2: 31,915,313 (GRCm39) N1166D probably benign Het
Or2ad1 A G 13: 21,326,787 (GRCm39) S147P probably benign Het
Or4a68 G A 2: 89,270,213 (GRCm39) Q137* probably null Het
Or5m8 A T 2: 85,823,028 (GRCm39) Y289F probably damaging Het
Pcdhb8 T C 18: 37,489,780 (GRCm39) I486T probably benign Het
Pdzrn4 A T 15: 92,668,152 (GRCm39) Y768F probably benign Het
Pgf A G 12: 85,218,541 (GRCm39) S70P probably benign Het
Plcl2 G A 17: 50,914,100 (GRCm39) A370T possibly damaging Het
Pnkp T A 7: 44,511,961 (GRCm39) W115R probably benign Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prag1 A G 8: 36,613,799 (GRCm39) E1117G probably damaging Het
Prr12 T A 7: 44,678,471 (GRCm39) Q1919L unknown Het
Ret G T 6: 118,150,519 (GRCm39) H666N possibly damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Robo2 C T 16: 73,745,184 (GRCm39) G864S probably damaging Het
Rpa2 T G 4: 132,499,171 (GRCm39) I80S probably damaging Het
Ryk A T 9: 102,775,674 (GRCm39) D428V probably damaging Het
Slc29a1 A T 17: 45,901,204 (GRCm39) N30K probably damaging Het
Stbd1 A G 5: 92,752,795 (GRCm39) N95S probably benign Het
Tbc1d22a A G 15: 86,176,335 (GRCm39) E212G probably benign Het
Tex14 A G 11: 87,427,568 (GRCm39) T7A probably benign Het
Tmc8 T C 11: 117,683,389 (GRCm39) V648A possibly damaging Het
Tmem132b G T 5: 125,864,083 (GRCm39) V730F probably damaging Het
Tmub2 G A 11: 102,178,196 (GRCm39) G33D possibly damaging Het
Trak1 G A 9: 121,269,745 (GRCm39) D124N probably damaging Het
Ttc28 A T 5: 111,378,977 (GRCm39) Y1154F probably damaging Het
Ttn T C 2: 76,739,713 (GRCm39) T3609A probably benign Het
Tulp2 A G 7: 45,167,266 (GRCm39) T99A probably benign Het
Ugt2a2 A T 5: 87,613,427 (GRCm39) probably null Het
Ush2a G A 1: 188,410,608 (GRCm39) V2419I probably benign Het
Vill C A 9: 118,899,389 (GRCm39) P343Q probably damaging Het
Vmn2r66 T A 7: 84,656,062 (GRCm39) H318L possibly damaging Het
Wdr3 A C 3: 100,049,535 (GRCm39) N800K probably benign Het
Wdr93 A G 7: 79,398,922 (GRCm39) K19E probably damaging Het
Wrn A G 8: 33,806,436 (GRCm39) S333P probably damaging Het
Zfp418 T C 7: 7,185,500 (GRCm39) S488P possibly damaging Het
Zfp804a A G 2: 82,087,041 (GRCm39) E290G probably benign 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
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
R6858:Or1a1 UTSW 11 74,086,925 (GRCm39) missense probably benign 0.01
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
Posted On 2014-01-15