Incidental Mutation 'IGL03189:Or2ah1'
ID 412569
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 # IGL03189
Quality Score
Status
Chromosome 2
Chromosomal Location 85653317-85654252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85653902 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 196 (T196A)
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: T196A

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: T196A

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: T196A

PolyPhen 2 Score 0.273 (Sensitivity: 0.91; Specificity: 0.88)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,895,814 (GRCm39) T916A probably benign Het
Adam22 A T 5: 8,161,897 (GRCm39) Y50* probably null Het
Adprs T C 4: 126,211,087 (GRCm39) probably benign Het
Ahnak G A 19: 8,988,603 (GRCm39) V3296M possibly damaging Het
Bfar A G 16: 13,505,365 (GRCm39) D125G possibly damaging Het
Bmp3 A T 5: 99,020,579 (GRCm39) Q334L probably benign Het
Camsap2 A T 1: 136,209,400 (GRCm39) D697E probably damaging Het
Car11 A G 7: 45,351,879 (GRCm39) T103A probably damaging Het
Cecr2 T A 6: 120,739,391 (GRCm39) S1373T probably benign Het
Cenpm A G 15: 82,118,634 (GRCm39) V160A possibly damaging Het
Chl1 A T 6: 103,660,168 (GRCm39) I365F possibly damaging Het
Col20a1 C T 2: 180,651,200 (GRCm39) Q1089* probably null Het
Csf1r A T 18: 61,239,058 (GRCm39) T13S probably benign Het
Fam13a T C 6: 58,933,843 (GRCm39) E249G probably damaging Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fhdc1 G A 3: 84,362,368 (GRCm39) probably benign Het
Fn3krp T C 11: 121,320,456 (GRCm39) I267T probably damaging Het
Fras1 A T 5: 96,890,930 (GRCm39) I2820F probably benign Het
Fyb2 A G 4: 104,872,939 (GRCm39) I771V probably damaging Het
Gata3os A G 2: 9,888,634 (GRCm39) probably benign Het
Glis1 A G 4: 107,472,248 (GRCm39) Y275C probably damaging Het
Hdgf A G 3: 87,820,735 (GRCm39) T62A possibly damaging Het
Hsd17b3 C T 13: 64,210,901 (GRCm39) probably null Het
Ift56 C T 6: 38,402,166 (GRCm39) P553S probably benign Het
Iqgap1 T A 7: 80,363,590 (GRCm39) Y1655F probably benign Het
Izumo1 A G 7: 45,274,588 (GRCm39) D181G probably damaging Het
Lrp2 T C 2: 69,268,822 (GRCm39) probably benign Het
Mark1 T C 1: 184,651,890 (GRCm39) N95S probably damaging Het
Mbd5 A G 2: 49,147,763 (GRCm39) K658E probably damaging Het
Mcm6 C T 1: 128,272,039 (GRCm39) D453N probably damaging Het
Mfsd14a T C 3: 116,435,504 (GRCm39) D187G probably benign Het
Mrpl19 G T 6: 81,938,974 (GRCm39) S276* probably null Het
Ncoa2 G A 1: 13,260,360 (GRCm39) T105M probably damaging Het
Nop14 A G 5: 34,807,972 (GRCm39) probably benign Het
Or2aj5 T C 16: 19,425,341 (GRCm39) T26A probably benign Het
Or5w19 G A 2: 87,698,559 (GRCm39) A75T possibly damaging Het
Otud7b G A 3: 96,062,795 (GRCm39) S678N probably benign Het
Pcdhb6 G A 18: 37,469,205 (GRCm39) V25M probably damaging Het
Prpf39 G T 12: 65,090,076 (GRCm39) G5* probably null Het
Serpinb9d T C 13: 33,386,895 (GRCm39) V321A probably damaging Het
Sh2b1 A G 7: 126,067,702 (GRCm39) S613P possibly damaging Het
Snx30 T C 4: 59,857,452 (GRCm39) I55T probably benign Het
Spata13 T C 14: 60,929,063 (GRCm39) I207T possibly damaging Het
Suco T C 1: 161,684,906 (GRCm39) probably benign Het
Svs5 A G 2: 164,079,032 (GRCm39) S292P possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Tmem45a A T 16: 56,631,936 (GRCm39) Y227* probably null Het
Tnfsf15 A G 4: 63,648,289 (GRCm39) probably benign Het
Vmn2r4 C A 3: 64,296,589 (GRCm39) R732L possibly damaging Het
Wdr7 C T 18: 63,893,672 (GRCm39) T602I 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
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 2016-08-02