Incidental Mutation 'IGL01362:Or2a14'
ID 75769
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2a14
Ensembl Gene ENSMUSG00000094200
Gene Name olfactory receptor family 2 subfamily A member 14
Synonyms Olfr237-ps1, MOR261-4, Olfr237, GA_x6K02T08UK8-1-481, GA_x6K02T2P3E9-4404793-4403861, Olfr438
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # IGL01362
Quality Score
Status
Chromosome 6
Chromosomal Location 43130241-43131173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 43130569 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 110 (E110G)
Ref Sequence ENSEMBL: ENSMUSP00000149245 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095953] [ENSMUST00000215911] [ENSMUST00000216411]
AlphaFold K9J725
Predicted Effect probably damaging
Transcript: ENSMUST00000095953
AA Change: E110G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093647
Gene: ENSMUSG00000094200
AA Change: E110G

DomainStartEndE-ValueType
Pfam:7tm_4 30 307 8e-61 PFAM
Pfam:7tm_1 40 289 2.6e-26 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000215911
AA Change: E110G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000216411
AA Change: E110G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T A 8: 87,261,322 (GRCm39) D733V probably benign Het
Baz2a G A 10: 127,957,833 (GRCm39) G1062D probably damaging Het
Bmp8a C A 4: 123,207,094 (GRCm39) R389L probably damaging Het
Ccdc148 A G 2: 58,719,811 (GRCm39) V488A probably benign Het
Cdh24 T C 14: 54,875,889 (GRCm39) I227V probably benign Het
Dnah6 A G 6: 73,069,161 (GRCm39) F2509L probably damaging Het
Dusp1 A G 17: 26,725,618 (GRCm39) I247T probably benign Het
Erich6 G A 3: 58,529,781 (GRCm39) probably null Het
Fam186b T C 15: 99,178,199 (GRCm39) T376A probably benign Het
Gbp9 T C 5: 105,228,072 (GRCm39) E570G probably damaging Het
Gm5117 G T 8: 32,227,947 (GRCm39) noncoding transcript Het
Gpr37l1 A G 1: 135,089,216 (GRCm39) V283A probably benign Het
Heatr5b A G 17: 79,123,767 (GRCm39) probably benign Het
Ifit1bl2 G A 19: 34,596,884 (GRCm39) T244I probably benign Het
Mcoln1 T C 8: 3,557,558 (GRCm39) V188A possibly damaging Het
Mon1a T C 9: 107,779,883 (GRCm39) L484P probably damaging Het
Mrgprg T A 7: 143,318,806 (GRCm39) D102V probably damaging Het
Mto1 T A 9: 78,360,056 (GRCm39) S181R probably benign Het
Myh11 C T 16: 14,095,586 (GRCm39) V59I probably benign Het
Myo7a G A 7: 97,746,909 (GRCm39) T163I probably damaging Het
Nr4a3 A C 4: 48,051,586 (GRCm39) Q142H possibly damaging Het
Or14c41 A T 7: 86,234,647 (GRCm39) T55S possibly damaging Het
Or2y15 A G 11: 49,351,270 (GRCm39) I255V probably benign Het
Or8b8 A G 9: 37,809,359 (GRCm39) I220V probably benign Het
Pkd1l2 A G 8: 117,748,595 (GRCm39) S1859P probably damaging Het
Pkhd1l1 A G 15: 44,396,378 (GRCm39) T1967A probably benign Het
Plppr3 C T 10: 79,701,795 (GRCm39) R349Q probably damaging Het
Ppp2r5d A G 17: 46,996,443 (GRCm39) probably null Het
Prl2c2 C T 13: 13,176,828 (GRCm39) C33Y probably damaging Het
Prl3d2 T A 13: 27,306,438 (GRCm39) L55* probably null Het
Ralgapb C T 2: 158,277,385 (GRCm39) R250C probably damaging Het
Scamp3 C T 3: 89,086,441 (GRCm39) P63S probably benign Het
Slc22a6 A G 19: 8,598,572 (GRCm39) I210V possibly damaging Het
Stard13 T A 5: 151,113,417 (GRCm39) H48L probably benign Het
Tm6sf2 G A 8: 70,530,565 (GRCm39) R215H probably damaging Het
Twist2 T C 1: 91,729,650 (GRCm39) L101P probably damaging Het
Uvrag A G 7: 98,537,720 (GRCm39) S492P probably benign Het
Zan T C 5: 137,450,712 (GRCm39) T1622A unknown Het
Zswim2 T A 2: 83,745,690 (GRCm39) T583S probably benign Het
Other mutations in Or2a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01658:Or2a14 APN 6 43,130,784 (GRCm39) missense probably damaging 0.99
IGL02826:Or2a14 APN 6 43,130,511 (GRCm39) missense possibly damaging 0.80
R0504:Or2a14 UTSW 6 43,130,395 (GRCm39) missense probably benign
R0839:Or2a14 UTSW 6 43,130,558 (GRCm39) missense probably benign 0.13
R1954:Or2a14 UTSW 6 43,130,911 (GRCm39) missense possibly damaging 0.82
R5238:Or2a14 UTSW 6 43,130,961 (GRCm39) missense probably damaging 1.00
R5534:Or2a14 UTSW 6 43,130,567 (GRCm39) missense probably benign 0.00
R6213:Or2a14 UTSW 6 43,130,821 (GRCm39) missense possibly damaging 0.95
R6382:Or2a14 UTSW 6 43,130,899 (GRCm39) missense probably damaging 1.00
R8261:Or2a14 UTSW 6 43,130,242 (GRCm39) start codon destroyed probably null 1.00
R8497:Or2a14 UTSW 6 43,130,818 (GRCm39) missense probably damaging 1.00
R9080:Or2a14 UTSW 6 43,130,830 (GRCm39) missense possibly damaging 0.94
R9691:Or2a14 UTSW 6 43,130,629 (GRCm39) missense probably benign 0.00
R9709:Or2a14 UTSW 6 43,130,469 (GRCm39) missense possibly damaging 0.56
Posted On 2013-10-07