Incidental Mutation 'IGL02569:Or2ag1'
ID 298941
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or2ag1
Ensembl Gene ENSMUSG00000109058
Gene Name olfactory receptor family 2 subfamily AG member 1
Synonyms Olfr705, MOR283-2, GA_x6K02T2PBJ9-9256348-9255398
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # IGL02569
Quality Score
Status
Chromosome 7
Chromosomal Location 106472500-106473450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 106313793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 32 (I32L)
Ref Sequence ENSEMBL: ENSMUSP00000149773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080925] [ENSMUST00000216868]
AlphaFold Q9EPF7
Predicted Effect probably benign
Transcript: ENSMUST00000080925
AA Change: I32L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000079726
Gene: ENSMUSG00000073900
AA Change: I32L

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 2.1e-48 PFAM
Pfam:7TM_GPCR_Srsx 35 305 1.5e-7 PFAM
Pfam:7tm_1 41 290 1.5e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000216868
AA Change: I32L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,034,061 (GRCm39) D2223G probably damaging Het
Brd1 A G 15: 88,598,132 (GRCm39) L538P probably damaging Het
Cacna2d2 T C 9: 107,391,245 (GRCm39) V424A probably damaging Het
Capg A C 6: 72,538,032 (GRCm39) E306A probably damaging Het
Cdc14b T C 13: 64,373,428 (GRCm39) Y115C probably benign Het
Crat G A 2: 30,294,542 (GRCm39) R509W probably damaging Het
Ddx60 A G 8: 62,477,985 (GRCm39) N1594S possibly damaging Het
Fabp2 T C 3: 122,689,113 (GRCm39) F18L probably damaging Het
Fam187a A G 11: 102,776,985 (GRCm39) K263R probably benign Het
Fam227a C T 15: 79,518,323 (GRCm39) C323Y probably benign Het
Fas A G 19: 34,297,962 (GRCm39) E210G possibly damaging Het
Fgfbp1 A G 5: 44,136,569 (GRCm39) F241S probably damaging Het
Gramd1a A T 7: 30,829,932 (GRCm39) probably benign Het
Hmcn1 A T 1: 150,573,244 (GRCm39) M2135K probably benign Het
Ikbkb G T 8: 23,183,899 (GRCm39) Q84K probably damaging Het
Kcnk9 T C 15: 72,384,426 (GRCm39) T251A probably benign Het
Mphosph9 C A 5: 124,435,634 (GRCm39) E600* probably null Het
Or2ag1b T A 7: 106,288,849 (GRCm39) T30S probably benign Het
Pde1a C A 2: 79,698,602 (GRCm39) K341N probably benign Het
Prune2 A G 19: 17,156,223 (GRCm39) N2792S probably damaging Het
Scart2 A C 7: 139,878,275 (GRCm39) I885L probably benign Het
Slc17a3 A G 13: 24,030,285 (GRCm39) Y132C probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
St6galnac1 T C 11: 116,658,528 (GRCm39) D312G probably damaging Het
Tardbp A G 4: 148,703,639 (GRCm39) probably null Het
Tex9 C T 9: 72,385,645 (GRCm39) V8I probably damaging Het
Tpr T A 1: 150,301,382 (GRCm39) probably benign Het
Ttll8 C T 15: 88,818,129 (GRCm39) W182* probably null Het
Vmn2r61 G A 7: 41,926,070 (GRCm39) G525E probably damaging Het
Zfp111 T C 7: 23,906,494 (GRCm39) T2A possibly damaging Het
Other mutations in Or2ag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01743:Or2ag1 APN 7 106,313,541 (GRCm39) missense possibly damaging 0.48
IGL02203:Or2ag1 APN 7 106,313,837 (GRCm39) missense probably benign 0.02
IGL02342:Or2ag1 APN 7 106,313,232 (GRCm39) missense probably benign 0.13
IGL02544:Or2ag1 APN 7 106,313,742 (GRCm39) missense probably benign 0.39
PIT4651001:Or2ag1 UTSW 7 106,472,730 (GRCm39) missense probably damaging 1.00
R0501:Or2ag1 UTSW 7 106,313,810 (GRCm39) missense probably benign 0.01
R0504:Or2ag1 UTSW 7 106,313,908 (GRCm39) splice site probably benign
R0536:Or2ag1 UTSW 7 106,313,528 (GRCm39) missense probably damaging 1.00
R0633:Or2ag1 UTSW 7 106,313,184 (GRCm39) missense probably benign 0.03
R0686:Or2ag1 UTSW 7 106,313,585 (GRCm39) missense probably damaging 0.98
R1225:Or2ag1 UTSW 7 106,313,731 (GRCm39) missense probably benign 0.22
R1725:Or2ag1 UTSW 7 106,313,265 (GRCm39) missense probably benign
R1864:Or2ag1 UTSW 7 106,313,030 (GRCm39) missense possibly damaging 0.87
R2065:Or2ag1 UTSW 7 106,313,373 (GRCm39) missense probably benign 0.12
R2068:Or2ag1 UTSW 7 106,313,373 (GRCm39) missense probably benign 0.12
R2081:Or2ag1 UTSW 7 106,313,405 (GRCm39) missense probably benign
R4135:Or2ag1 UTSW 7 106,313,210 (GRCm39) missense probably damaging 1.00
R5649:Or2ag1 UTSW 7 106,313,373 (GRCm39) missense possibly damaging 0.89
R5858:Or2ag1 UTSW 7 106,472,975 (GRCm39) missense probably benign 0.01
R6083:Or2ag1 UTSW 7 106,472,789 (GRCm39) missense probably damaging 0.98
R7144:Or2ag1 UTSW 7 106,473,075 (GRCm39) missense probably damaging 1.00
R7214:Or2ag1 UTSW 7 106,473,474 (GRCm39) start gained probably benign
R7366:Or2ag1 UTSW 7 106,472,603 (GRCm39) missense probably damaging 1.00
R7445:Or2ag1 UTSW 7 106,472,549 (GRCm39) missense possibly damaging 0.55
R8171:Or2ag1 UTSW 7 106,313,826 (GRCm39) missense
R8171:Or2ag1 UTSW 7 106,313,825 (GRCm39) missense probably benign
R8986:Or2ag1 UTSW 7 106,473,050 (GRCm39) missense probably benign 0.00
R9285:Or2ag1 UTSW 7 106,472,715 (GRCm39) missense probably benign 0.11
Posted On 2015-04-16