Incidental Mutation 'R8011:Or2ah1'
ID 616892
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 046051-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.576) question?
Stock # R8011 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 85653317-85654252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 85653957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 214 (L214R)
Ref Sequence ENSEMBL: ENSMUSP00000151090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054201] [ENSMUST00000214416]
AlphaFold A2ASV3
Predicted Effect possibly damaging
Transcript: ENSMUST00000054201
AA Change: L214R

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: L214R

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 4.1e-59 PFAM
Pfam:7tm_1 42 291 1.2e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214416
AA Change: L214R

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (46/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010315B03Rik C T 9: 124,056,529 (GRCm39) E132K Het
Acss2 T C 2: 155,397,877 (GRCm39) I313T possibly damaging Het
Akap13 G A 7: 75,380,213 (GRCm39) R462H probably damaging Het
Ankrd27 T C 7: 35,316,306 (GRCm39) V524A probably benign Het
Cacna1e T C 1: 154,341,568 (GRCm39) I1209V probably benign Het
Cntn3 A T 6: 102,414,860 (GRCm39) I29N possibly damaging Het
Col5a1 G A 2: 27,870,533 (GRCm39) probably benign Het
Cttnbp2 G C 6: 18,426,092 (GRCm39) A762G possibly damaging Het
Edc3 C A 9: 57,620,659 (GRCm39) probably benign Het
Egflam A T 15: 7,276,525 (GRCm39) M547K possibly damaging Het
Fgr T C 4: 132,725,790 (GRCm39) Y400H probably damaging Het
Gaa C T 11: 119,163,762 (GRCm39) P205S probably benign Het
Gpr6 T A 10: 40,946,911 (GRCm39) T224S probably benign Het
Hes3 T C 4: 152,371,938 (GRCm39) probably benign Het
Hydin T C 8: 111,310,541 (GRCm39) F4079S probably damaging Het
Igf2bp2 A T 16: 21,894,849 (GRCm39) I366N probably damaging Het
Kmt2c A G 5: 25,556,232 (GRCm39) V1171A probably damaging Het
Kndc1 T A 7: 139,490,536 (GRCm39) F346Y possibly damaging Het
Lpin2 G A 17: 71,537,370 (GRCm39) G306R probably benign Het
Mok T C 12: 110,781,351 (GRCm39) probably benign Het
Nolc1 T C 19: 46,070,023 (GRCm39) V265A unknown Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or4c103 G A 2: 88,513,537 (GRCm39) Q180* probably null Het
Or5j1 A C 2: 86,879,190 (GRCm39) L130R probably damaging Het
Or6b2b A G 1: 92,418,997 (GRCm39) V160A possibly damaging Het
Parp14 G A 16: 35,677,004 (GRCm39) T988I probably benign Het
Pdk1 A T 2: 71,705,796 (GRCm39) Q81H probably benign Het
Plekha6 A G 1: 133,191,544 (GRCm39) T38A probably benign Het
Pou2f1 A G 1: 165,722,472 (GRCm39) probably null Het
Rgs6 A G 12: 83,163,066 (GRCm39) D424G probably null Het
Rnf13 T G 3: 57,714,491 (GRCm39) Y183* probably null Het
Ryr2 A T 13: 11,603,026 (GRCm39) probably null Het
Serpinb7 T A 1: 107,362,487 (GRCm39) S64T possibly damaging Het
Six2 T C 17: 85,995,100 (GRCm39) E94G probably damaging Het
Slc44a5 A G 3: 153,953,447 (GRCm39) I276M possibly damaging Het
Smco2 A G 6: 146,769,633 (GRCm39) Y239C probably damaging Het
Ssx2ip T C 3: 146,128,666 (GRCm39) S148P probably damaging Het
Tiam2 T C 17: 3,498,671 (GRCm39) Y816H possibly damaging Het
Tnk2 C T 16: 32,487,183 (GRCm39) R127C probably benign Het
Tpd52l1 T C 10: 31,208,913 (GRCm39) N185S probably benign Het
Try5 T C 6: 41,290,421 (GRCm39) D21G probably benign Het
Vmn2r20 A G 6: 123,373,369 (GRCm39) V491A possibly damaging Het
Vps54 G T 11: 21,225,095 (GRCm39) R197L probably damaging Het
Xkr5 G T 8: 18,998,736 (GRCm39) Y27* probably null Het
Zfp1004 A G 2: 150,034,266 (GRCm39) S196G possibly damaging Het
Zfp626 T A 7: 27,518,140 (GRCm39) C374S possibly 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
R6521:Or2ah1 UTSW 2 85,653,794 (GRCm39) missense probably benign 0.01
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
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'- ATTATGGACCAAAACACCTGTATCC -3'
(R):5'- CCTGGAGGACTTTGACTGTG -3'

Sequencing Primer
(F):5'- CTGTATCCAACTGGCAGCC -3'
(R):5'- GTGGTCTCATGTACATAAAGATGGC -3'
Posted On 2020-01-23