Incidental Mutation 'R5597:Or2ah1'
ID 437856
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 043149-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.576) question?
Stock # R5597 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 85653317-85654252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85653804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 163 (L163P)
Ref Sequence ENSEMBL: ENSMUSP00000151090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054201] [ENSMUST00000214416]
AlphaFold A2ASV3
Predicted Effect probably damaging
Transcript: ENSMUST00000054201
AA Change: L163P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: L163P

DomainStartEndE-ValueType
Pfam:7tm_4 32 309 4.1e-59 PFAM
Pfam:7tm_1 42 291 1.2e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214416
AA Change: L163P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency 100% (55/55)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,927,363 (GRCm39) T1330I probably damaging Het
Aebp1 T C 11: 5,816,487 (GRCm39) V322A probably benign Het
Anks3 T A 16: 4,771,793 (GRCm39) H77L possibly damaging Het
Bsn A T 9: 107,992,131 (GRCm39) M1207K probably benign Het
Btla A G 16: 45,064,599 (GRCm39) T183A probably benign Het
Cdca8 G A 4: 124,812,793 (GRCm39) R286W probably damaging Het
Cnot6l T C 5: 96,278,978 (GRCm39) D80G probably damaging Het
Col16a1 A G 4: 129,952,097 (GRCm39) D93G probably damaging Het
Ctsk T C 3: 95,409,007 (GRCm39) V130A probably damaging Het
Cul9 T C 17: 46,813,591 (GRCm39) E2294G possibly damaging Het
Dcaf5 G T 12: 80,386,817 (GRCm39) S436R probably damaging Het
Dnah7a A T 1: 53,573,611 (GRCm39) L1792H probably benign Het
Dst T C 1: 34,231,794 (GRCm39) V3307A probably benign Het
Frrs1 C T 3: 116,671,887 (GRCm39) probably benign Het
Gimap4 T C 6: 48,667,698 (GRCm39) L151P probably damaging Het
Hook2 A G 8: 85,720,657 (GRCm39) N166S probably benign Het
Hp1bp3 A T 4: 137,948,939 (GRCm39) M1L possibly damaging Het
Igkv4-56 T A 6: 69,564,467 (GRCm39) noncoding transcript Het
Kdm6b C T 11: 69,296,900 (GRCm39) A456T probably damaging Het
Lamc1 A G 1: 153,127,716 (GRCm39) C396R probably damaging Het
Lars2 A T 9: 123,284,047 (GRCm39) D745V probably damaging Het
Macf1 A T 4: 123,433,570 (GRCm39) probably benign Het
Mapk4 T A 18: 74,070,341 (GRCm39) Y184F probably benign Het
Mgat5 A G 1: 127,325,303 (GRCm39) Y390C probably damaging Het
Msh2 T C 17: 88,030,789 (GRCm39) S889P probably benign Het
Nebl A G 2: 17,382,978 (GRCm39) S100P probably benign Het
Nudt7 A T 8: 114,878,506 (GRCm39) H154L probably benign Het
Olig2 A T 16: 91,023,768 (GRCm39) M161L probably benign Het
Or5h24 A T 16: 58,918,710 (GRCm39) V215D unknown Het
Or6c214 T C 10: 129,590,755 (GRCm39) D188G probably damaging Het
Palmd T A 3: 116,717,225 (GRCm39) D424V probably damaging Het
Pdzk1ip1 A G 4: 114,950,689 (GRCm39) N164D probably damaging Het
Prkag1 A G 15: 98,713,789 (GRCm39) S14P probably damaging Het
Prss12 C T 3: 123,258,389 (GRCm39) P161L probably benign Het
Pwwp2a T C 11: 43,573,422 (GRCm39) V168A probably benign Het
Rassf7 A G 7: 140,797,024 (GRCm39) D79G probably damaging Het
Rgs3 A T 4: 62,542,082 (GRCm39) I19F probably damaging Het
Slc30a10 C A 1: 185,194,897 (GRCm39) H236Q probably damaging Het
Slco3a1 C A 7: 73,934,210 (GRCm39) R654L probably benign Het
Smad4 A C 18: 73,795,898 (GRCm39) F165L probably benign Het
Swsap1 G T 9: 21,867,242 (GRCm39) R62M probably damaging Het
Tenm4 T A 7: 96,202,724 (GRCm39) M113K probably benign Het
Tmem225 A G 9: 40,060,726 (GRCm39) N95S possibly damaging Het
Tnni3k A T 3: 154,577,765 (GRCm39) L658H probably damaging Het
Trem2 G A 17: 48,658,840 (GRCm39) V202I probably benign Het
Tyw1 C T 5: 130,303,498 (GRCm39) L289F probably benign Het
Vcam1 T A 3: 115,919,651 (GRCm39) D205V probably damaging Het
Vmn2r-ps158 A G 7: 42,674,073 (GRCm39) D377G probably benign Het
Yy1 A G 12: 108,781,436 (GRCm39) D367G probably damaging Het
Zfp11 A T 5: 129,734,166 (GRCm39) C432S probably benign 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
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
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'- TGCCACGCAGATGTATTTCTC -3'
(R):5'- TGATCGCATCCTGAGAACAG -3'

Sequencing Primer
(F):5'- CACTCTCCTTTGGAATGATTGAATG -3'
(R):5'- TCGCATCCTGAGAACAGAAAGAAG -3'
Posted On 2016-10-26