Incidental Mutation 'IGL03329:Or2ah1'
ID 416783
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: 0.591) question?
Stock # IGL03329
Quality Score
Status
Chromosome 2
Chromosomal Location 85653317-85654252 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 85653729 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 138 (D138A)
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: D138A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000050833
Gene: ENSMUSG00000043892
AA Change: D138A

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: D138A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,047 (GRCm39) D2598G probably benign Het
Abcf2 T G 5: 24,776,246 (GRCm39) probably null Het
Acsl1 T A 8: 46,946,031 (GRCm39) C55S possibly damaging Het
Adam22 T A 5: 8,199,210 (GRCm39) M249L possibly damaging Het
Alk A G 17: 72,206,159 (GRCm39) probably benign Het
Ambn T G 5: 88,609,527 (GRCm39) S78R probably benign Het
Apbb1ip T A 2: 22,757,729 (GRCm39) V449D possibly damaging Het
Atp13a5 A T 16: 29,152,883 (GRCm39) Y194* probably null Het
Cacul1 A T 19: 60,531,489 (GRCm39) F260Y probably damaging Het
Cfap46 A G 7: 139,181,081 (GRCm39) I2640T probably damaging Het
Chd7 T C 4: 8,841,108 (GRCm39) S1446P probably damaging Het
Cimap2 G T 4: 106,464,601 (GRCm39) R353S possibly damaging Het
Clcn2 G A 16: 20,530,902 (GRCm39) T276I probably damaging Het
Dcbld1 T G 10: 52,195,721 (GRCm39) Y310D probably damaging Het
Dennd4c G A 4: 86,696,113 (GRCm39) V157I probably damaging Het
Dennd5b G T 6: 148,899,758 (GRCm39) T1213K possibly damaging Het
Dusp8 A T 7: 141,638,097 (GRCm39) L177* probably null Het
Erbb4 T C 1: 68,367,281 (GRCm39) S479G probably benign Het
Gpbp1 T A 13: 111,589,787 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,608,661 (GRCm39) Q1507L probably damaging Het
Inppl1 G T 7: 101,473,587 (GRCm39) T1021K possibly damaging Het
Klk1b9 A G 7: 43,628,838 (GRCm39) E114G probably benign Het
Klre1 T C 6: 129,562,660 (GRCm39) probably benign Het
Lancl1 T C 1: 67,060,209 (GRCm39) Y72C probably damaging Het
Lilra6 A G 7: 3,917,647 (GRCm39) probably benign Het
Magi2 T C 5: 20,671,126 (GRCm39) V490A possibly damaging Het
Myo3b T A 2: 70,084,803 (GRCm39) N720K probably damaging Het
Or7e166 T C 9: 19,624,597 (GRCm39) V158A probably benign Het
Ppp2r3d T A 9: 101,003,630 (GRCm39) probably benign Het
Rbm47 T C 5: 66,184,036 (GRCm39) D189G probably damaging Het
Scn2a G A 2: 65,594,973 (GRCm39) D1941N probably benign Het
Sgpp2 T C 1: 78,367,200 (GRCm39) I111T probably benign Het
Sh3bp2 T C 5: 34,716,546 (GRCm39) V319A probably benign Het
Slc12a3 A C 8: 95,092,519 (GRCm39) Q980P possibly damaging Het
Slc39a8 G T 3: 135,590,474 (GRCm39) G389V probably damaging Het
Slc5a3 T C 16: 91,874,348 (GRCm39) I135T probably damaging Het
Smu1 A G 4: 40,739,568 (GRCm39) V414A possibly damaging Het
Tlr12 A G 4: 128,510,645 (GRCm39) F535S possibly damaging Het
Trim47 A G 11: 115,997,254 (GRCm39) V501A probably damaging Het
Vmn1r16 A T 6: 57,300,603 (GRCm39) N6K probably damaging Het
Vwce G A 19: 10,637,360 (GRCm39) C711Y possibly damaging Het
Wdr25 C T 12: 108,864,262 (GRCm39) L136F probably benign Het
Xpo1 A G 11: 23,234,306 (GRCm39) Q437R probably benign Het
Zfp169 C A 13: 48,644,270 (GRCm39) probably benign Het
Zfp607b A T 7: 27,403,295 (GRCm39) I584F probably damaging Het
Zzef1 T A 11: 72,808,099 (GRCm39) 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
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