Incidental Mutation 'IGL03247:Or2ag12'
ID 414434
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2ag12
Ensembl Gene ENSMUSG00000051680
Gene Name olfactory receptor family 2 subfamily AG member 12
Synonyms Olfr693, MOR283-8, GA_x6K02T2PBJ9-9055944-9054994
Accession Numbers
Essential gene? Probably non essential (E-score: 0.105) question?
Stock # IGL03247
Quality Score
Status
Chromosome 7
Chromosomal Location 106276741-106277692 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106276754 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 313 (H313L)
Ref Sequence ENSEMBL: ENSMUSP00000150203 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057817] [ENSMUST00000215541]
AlphaFold Q8VF89
Predicted Effect probably benign
Transcript: ENSMUST00000057817
AA Change: H313L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000059679
Gene: ENSMUSG00000051680
AA Change: H313L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 5.2e-48 PFAM
Pfam:7tm_1 41 290 5.7e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000215541
AA Change: H313L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 T A 14: 56,007,553 (GRCm39) I926F probably damaging Het
Agap3 A G 5: 24,692,820 (GRCm39) N418D probably damaging Het
Alms1 T C 6: 85,655,579 (GRCm39) V3375A possibly damaging Het
Ankrd6 T A 4: 32,860,441 (GRCm39) M1L possibly damaging Het
Aox4 A G 1: 58,303,526 (GRCm39) D1188G probably damaging Het
Car2 T A 3: 14,952,999 (GRCm39) L47Q probably damaging Het
Catsper2 A G 2: 121,240,681 (GRCm39) V107A probably benign Het
Catsperg2 T C 7: 29,416,473 (GRCm39) N313S possibly damaging Het
Dolk T C 2: 30,175,523 (GRCm39) Y174C probably damaging Het
Erfe A G 1: 91,298,147 (GRCm39) E219G probably benign Het
Ern2 T C 7: 121,770,894 (GRCm39) E733G probably benign Het
Fam228a A G 12: 4,787,734 (GRCm39) F13S probably damaging Het
Fancd2 T C 6: 113,545,169 (GRCm39) V829A probably benign Het
Gid4 C A 11: 60,323,169 (GRCm39) T87N probably benign Het
H2-Ob A G 17: 34,462,466 (GRCm39) K152R probably benign Het
Ifna2 T A 4: 88,601,614 (GRCm39) T135S probably benign Het
Il1rapl2 G A X: 137,690,429 (GRCm39) G298D probably damaging Het
Mbd1 T A 18: 74,407,825 (GRCm39) L174* probably null Het
Mga T A 2: 119,765,994 (GRCm39) D1341E possibly damaging Het
Mmp12 T A 9: 7,348,631 (GRCm39) M54K probably benign Het
Mphosph8 T A 14: 56,916,277 (GRCm39) probably null Het
Mrps23 A G 11: 88,100,922 (GRCm39) probably benign Het
Necab1 C T 4: 14,960,046 (GRCm39) M300I probably benign Het
Nid2 G A 14: 19,829,688 (GRCm39) D660N probably damaging Het
Or9r7 T A 10: 129,962,584 (GRCm39) E114V probably damaging Het
P2ry13 A T 3: 59,117,013 (GRCm39) V255D possibly damaging Het
Peak1 C T 9: 56,165,214 (GRCm39) E905K probably damaging Het
Picalm C A 7: 89,843,499 (GRCm39) Q550K probably benign Het
Rnf103 T A 6: 71,487,289 (GRCm39) V640E possibly damaging Het
Sec31b T G 19: 44,507,379 (GRCm39) K817N possibly damaging Het
Shisal2a A T 4: 108,225,098 (GRCm39) C155S probably benign Het
Skint2 C A 4: 112,483,223 (GRCm39) H209Q probably benign Het
Skint5 T C 4: 113,798,005 (GRCm39) S193G probably damaging Het
Tacr3 A G 3: 134,635,852 (GRCm39) probably benign Het
Tek A G 4: 94,753,680 (GRCm39) M1041V possibly damaging Het
Tm4sf1 A G 3: 57,200,436 (GRCm39) S89P possibly damaging Het
Tusc3 T A 8: 39,597,931 (GRCm39) N299K possibly damaging Het
Washc4 T C 10: 83,400,327 (GRCm39) S418P probably benign Het
Other mutations in Or2ag12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00911:Or2ag12 APN 7 106,277,040 (GRCm39) missense probably damaging 1.00
IGL01135:Or2ag12 APN 7 106,277,400 (GRCm39) missense probably benign 0.41
R0206:Or2ag12 UTSW 7 106,276,781 (GRCm39) missense probably benign 0.03
R1125:Or2ag12 UTSW 7 106,277,214 (GRCm39) missense possibly damaging 0.46
R1873:Or2ag12 UTSW 7 106,277,691 (GRCm39) start codon destroyed probably damaging 1.00
R1969:Or2ag12 UTSW 7 106,276,877 (GRCm39) missense probably damaging 0.99
R1970:Or2ag12 UTSW 7 106,276,877 (GRCm39) missense probably damaging 0.99
R1971:Or2ag12 UTSW 7 106,276,877 (GRCm39) missense probably damaging 0.99
R1972:Or2ag12 UTSW 7 106,277,426 (GRCm39) missense probably benign 0.01
R1973:Or2ag12 UTSW 7 106,277,426 (GRCm39) missense probably benign 0.01
R2570:Or2ag12 UTSW 7 106,276,874 (GRCm39) missense probably benign 0.41
R3975:Or2ag12 UTSW 7 106,276,992 (GRCm39) missense probably damaging 1.00
R4840:Or2ag12 UTSW 7 106,277,330 (GRCm39) missense probably damaging 1.00
R5569:Or2ag12 UTSW 7 106,277,690 (GRCm39) start codon destroyed probably null 1.00
R6759:Or2ag12 UTSW 7 106,277,100 (GRCm39) missense probably benign
R6842:Or2ag12 UTSW 7 106,277,093 (GRCm39) missense probably damaging 1.00
R7108:Or2ag12 UTSW 7 106,277,255 (GRCm39) missense probably benign 0.03
R7565:Or2ag12 UTSW 7 106,277,333 (GRCm39) missense probably damaging 1.00
R7800:Or2ag12 UTSW 7 106,276,781 (GRCm39) missense probably benign 0.03
R9225:Or2ag12 UTSW 7 106,276,976 (GRCm39) missense probably benign 0.01
X0025:Or2ag12 UTSW 7 106,277,456 (GRCm39) missense probably damaging 1.00
Z1088:Or2ag12 UTSW 7 106,277,664 (GRCm39) missense probably benign 0.02
Posted On 2016-08-02