Incidental Mutation 'R6521:Or2ah1'
ID 521249
Institutional Source Beutler Lab
Gene Symbol Or2ah1
Ensembl Gene ENSMUSG00000043892
Gene Name olfactory receptor family 2 subfamily AH member 1
Synonyms GA_x6K02T2Q125-47301584-47302519, Olfr1018, MOR260-5
MMRRC Submission 044647-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.576) question?
Stock # R6521 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85653317-85654252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 85653794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 160 (I160F)
Ref Sequence ENSEMBL: ENSMUSP00000151090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054201] [ENSMUST00000214416]
AlphaFold A2ASV3
Predicted Effect probably benign
Transcript: ENSMUST00000054201
AA Change: I160F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: I160F

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 4.1e-59 PFAM
Pfam:7tm_1 42 291 1.2e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214416
AA Change: I160F

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.0%
Validation Efficiency 100% (48/48)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,769,968 (GRCm39) S356T probably benign Het
Acsbg2 T C 17: 57,168,565 (GRCm39) M185V probably benign Het
Adgrv1 A T 13: 81,581,771 (GRCm39) F4758I probably damaging Het
Ank3 A G 10: 69,828,596 (GRCm39) probably benign Het
Ankfy1 G A 11: 72,621,308 (GRCm39) R198Q possibly damaging Het
Ano4 A G 10: 88,819,640 (GRCm39) V537A probably damaging Het
Catsper2 A G 2: 121,237,288 (GRCm39) L204P probably damaging Het
Cdh20 A C 1: 104,869,859 (GRCm39) D193A probably damaging Het
Ceacam5 T C 7: 17,484,756 (GRCm39) probably null Het
Celf4 T A 18: 25,612,531 (GRCm39) probably null Het
Cfap91 A G 16: 38,127,121 (GRCm39) V545A probably benign Het
Crebbp A T 16: 3,936,992 (GRCm39) F754I probably damaging Het
Cyfip2 A T 11: 46,145,415 (GRCm39) I635N probably damaging Het
Erbb4 T A 1: 68,081,689 (GRCm39) D1131V probably damaging Het
Fsip2 A G 2: 82,820,430 (GRCm39) T5388A possibly damaging Het
Hoxc8 G A 15: 102,901,135 (GRCm39) V193M probably benign Het
Klhdc3 A G 17: 46,988,687 (GRCm39) V124A probably benign Het
Klhl18 A G 9: 110,257,703 (GRCm39) I509T possibly damaging Het
Mdfic T A 6: 15,729,027 (GRCm39) probably benign Het
Mkln1 T A 6: 31,467,479 (GRCm39) D64E probably damaging Het
Mmd2 A G 5: 142,560,585 (GRCm39) I112T probably damaging Het
Mpl C T 4: 118,312,314 (GRCm39) probably null Het
Mtmr4 A G 11: 87,504,353 (GRCm39) T1044A possibly damaging Het
Muc5b C A 7: 141,412,908 (GRCm39) Y1951* probably null Het
Myo15a C T 11: 60,393,195 (GRCm39) H2240Y probably damaging Het
Nckap5 A T 1: 126,309,909 (GRCm39) I74K probably damaging Het
Nfxl1 A T 5: 72,697,651 (GRCm39) probably null Het
Or11j4 T C 14: 50,631,005 (GRCm39) V264A possibly damaging Het
Or4c11c A G 2: 88,661,700 (GRCm39) I80V probably benign Het
Or8d2 C T 9: 38,759,893 (GRCm39) T161I probably benign Het
Piezo2 T C 18: 63,154,399 (GRCm39) Y2460C probably damaging Het
Pigx A G 16: 31,906,129 (GRCm39) L64P probably damaging Het
Prss1 C T 6: 41,440,615 (GRCm39) T230I probably damaging Het
Ptma A G 1: 86,455,569 (GRCm39) probably null Het
Rab39 T C 9: 53,617,331 (GRCm39) T29A probably benign Het
Rem2 C T 14: 54,715,144 (GRCm39) A107V possibly damaging Het
Senp1 A G 15: 97,946,152 (GRCm39) V531A probably damaging Het
Serhl A G 15: 82,985,843 (GRCm39) probably null Het
Sirpa T G 2: 129,472,075 (GRCm39) Y164D probably damaging Het
Slc12a3 T C 8: 95,069,741 (GRCm39) I550T possibly damaging Het
Slc22a14 T C 9: 119,049,835 (GRCm39) probably null Het
Slfn5 A G 11: 82,851,241 (GRCm39) N513D probably damaging Het
Sptan1 T C 2: 29,910,467 (GRCm39) S1831P possibly damaging Het
Swap70 T C 7: 109,855,027 (GRCm39) L109P probably benign Het
Tas2r119 G A 15: 32,178,319 (GRCm39) C295Y probably damaging Het
Tcaf3 T A 6: 42,570,172 (GRCm39) I527L probably damaging Het
Traj31 A G 14: 54,425,387 (GRCm39) probably benign Het
Unc5a T A 13: 55,152,748 (GRCm39) D887E probably benign Het
Zfp407 T A 18: 84,450,536 (GRCm39) H1600L probably damaging Het
Other mutations in Or2ah1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Or2ah1 APN 2 85,653,332 (GRCm39) missense probably benign 0.00
IGL02795:Or2ah1 APN 2 85,653,856 (GRCm39) nonsense probably null
IGL03189:Or2ah1 APN 2 85,653,902 (GRCm39) missense probably benign 0.27
IGL03329:Or2ah1 APN 2 85,653,729 (GRCm39) missense probably benign 0.02
IGL03400:Or2ah1 APN 2 85,654,094 (GRCm39) missense probably damaging 1.00
G1patch:Or2ah1 UTSW 2 85,654,134 (GRCm39) missense probably damaging 0.97
IGL02796:Or2ah1 UTSW 2 85,653,933 (GRCm39) missense probably benign 0.00
R5322:Or2ah1 UTSW 2 85,653,531 (GRCm39) missense probably damaging 0.99
R5597:Or2ah1 UTSW 2 85,653,804 (GRCm39) missense probably damaging 0.96
R6725:Or2ah1 UTSW 2 85,654,134 (GRCm39) missense probably damaging 0.97
R7068:Or2ah1 UTSW 2 85,653,396 (GRCm39) missense probably benign 0.00
R7105:Or2ah1 UTSW 2 85,654,224 (GRCm39) missense probably benign 0.22
R8011:Or2ah1 UTSW 2 85,653,957 (GRCm39) missense possibly damaging 0.90
R8294:Or2ah1 UTSW 2 85,653,531 (GRCm39) missense probably damaging 0.99
R9160:Or2ah1 UTSW 2 85,653,318 (GRCm39) start codon destroyed probably null 0.37
Z1176:Or2ah1 UTSW 2 85,653,365 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGCCACGCAGATGTATTTC -3'
(R):5'- ATCGCATCCTGAGAACAGAAAG -3'

Sequencing Primer
(F):5'- GCCACGCAGATGTATTTCTCACTC -3'
(R):5'- CATCCTGAGAACAGAAAGAAGGATGC -3'
Posted On 2018-06-06