Incidental Mutation 'IGL02795:Or2ah1'
ID 359924
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2ah1
Ensembl Gene ENSMUSG00000043892
Gene Name olfactory receptor family 2 subfamily AH member 1
Synonyms GA_x6K02T2Q125-47301584-47302519, Olfr1018, MOR260-5
Accession Numbers
Essential gene? Possibly essential (E-score: 0.576) question?
Stock # IGL02795
Quality Score
Chromosome 2
Chromosomal Location 85653317-85654252 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 85653856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 180 (C180*)
Ref Sequence ENSEMBL: ENSMUSP00000151090 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054201] [ENSMUST00000214416]
AlphaFold A2ASV3
Predicted Effect probably null
Transcript: ENSMUST00000054201
AA Change: C180*
SMART Domains Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: C180*

Pfam:7tm_4 32 309 4.1e-59 PFAM
Pfam:7tm_1 42 291 1.2e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000214416
AA Change: C180*
Coding Region Coverage
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A G 1: 71,327,907 (GRCm39) L1391P probably damaging Het
Abcc3 G A 11: 94,252,468 (GRCm39) probably benign Het
Acvr1 A G 2: 58,352,964 (GRCm39) I332T probably damaging Het
Atp8a2 C T 14: 60,271,191 (GRCm39) V247M probably damaging Het
Btn1a1 T C 13: 23,644,786 (GRCm39) probably null Het
Btnl9 A T 11: 49,065,694 (GRCm39) probably benign Het
Dbx1 T A 7: 49,286,325 (GRCm39) I47F probably benign Het
Dennd2b T C 7: 109,155,571 (GRCm39) Y393C probably damaging Het
Dnaja3 A G 16: 4,507,937 (GRCm39) probably benign Het
Dnmt1 T C 9: 20,838,407 (GRCm39) S220G probably benign Het
Dock9 A T 14: 121,877,390 (GRCm39) M451K probably benign Het
Eml3 A G 19: 8,911,142 (GRCm39) Y257C probably benign Het
Fam3d T A 14: 8,355,497 (GRCm38) M113L probably benign Het
Fbxw19 C A 9: 109,324,886 (GRCm39) M10I possibly damaging Het
Flg2 C T 3: 93,110,920 (GRCm39) R983W unknown Het
Galnt5 C A 2: 57,917,883 (GRCm39) P707H probably damaging Het
Gba2 G T 4: 43,578,331 (GRCm39) P6Q probably damaging Het
Gm13199 A G 2: 5,867,484 (GRCm39) probably benign Het
Gpr45 C T 1: 43,071,653 (GRCm39) R99C possibly damaging Het
Hecw1 G A 13: 14,497,102 (GRCm39) S302L probably damaging Het
Hrg T C 16: 22,776,303 (GRCm39) probably benign Het
Lama1 A G 17: 68,045,889 (GRCm39) probably null Het
Lgr4 T C 2: 109,838,555 (GRCm39) probably benign Het
Lrrc9 C T 12: 72,525,542 (GRCm39) T830M probably damaging Het
Mdga2 T C 12: 66,736,206 (GRCm39) T341A probably benign Het
Mms19 C T 19: 41,940,845 (GRCm39) probably null Het
Nectin1 A G 9: 43,714,849 (GRCm39) S362G probably benign Het
Nlrc3 G T 16: 3,783,149 (GRCm39) H87N probably damaging Het
Or1e17 G A 11: 73,831,755 (GRCm39) V228I probably benign Het
Or4b13 A G 2: 90,082,906 (GRCm39) L142P probably damaging Het
Or52a20 T A 7: 103,366,090 (GRCm39) F96L probably benign Het
Or5h17 G T 16: 58,820,640 (GRCm39) L197F possibly damaging Het
Pcsk1 G T 13: 75,260,739 (GRCm39) G321C probably damaging Het
Poglut3 A G 9: 53,303,405 (GRCm39) D99G probably damaging Het
Prrc2c G T 1: 162,541,868 (GRCm39) P374T probably benign Het
Rusc1 A T 3: 88,999,257 (GRCm39) L175Q probably damaging Het
Ryr2 T C 13: 11,610,076 (GRCm39) N4250S probably benign Het
Scara5 A C 14: 65,968,129 (GRCm39) N134T possibly damaging Het
Sema4d T C 13: 51,857,447 (GRCm39) K595R probably benign Het
Serpinb6a A C 13: 34,115,576 (GRCm39) L15R probably damaging Het
Setdb1 A T 3: 95,234,684 (GRCm39) N1006K probably damaging Het
Slc18a2 G A 19: 59,262,922 (GRCm39) probably benign Het
Slc22a30 C T 19: 8,378,259 (GRCm39) C139Y probably damaging Het
Slc25a27 T A 17: 43,958,003 (GRCm39) Y269F probably damaging Het
Slc9c1 A T 16: 45,395,782 (GRCm39) D611V probably benign Het
Spag6 G T 2: 18,737,894 (GRCm39) V255F probably benign Het
Svep1 C A 4: 58,123,223 (GRCm39) G698W probably damaging Het
Syne2 T C 12: 76,013,323 (GRCm39) L2839P probably damaging Het
Tfb2m T C 1: 179,373,524 (GRCm39) E58G possibly damaging Het
Trim24 A T 6: 37,896,324 (GRCm39) E260D probably damaging Het
Ugt2b1 T A 5: 87,065,560 (GRCm39) D493V probably damaging Het
Vmn1r27 A G 6: 58,192,287 (GRCm39) V189A possibly damaging Het
Vmn2r91 A G 17: 18,305,539 (GRCm39) Q74R probably benign Het
Vps25 A G 11: 101,146,916 (GRCm39) Y64C probably damaging Het
Xirp2 G A 2: 67,339,480 (GRCm39) G574S probably damaging Het
Ythdc2 A G 18: 44,970,505 (GRCm39) E273G possibly damaging Het
Other mutations in Or2ah1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Or2ah1 APN 2 85,653,332 (GRCm39) missense probably benign 0.00
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
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
Posted On 2015-12-18