Incidental Mutation 'IGL01743:Or2ag1'
ID 152898
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 # IGL01743
Quality Score
Status
Chromosome 7
Chromosomal Location 106472500-106473450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 106313541 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 116 (S116P)
Ref Sequence ENSEMBL: ENSMUSP00000149773 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080925] [ENSMUST00000216868]
AlphaFold Q9EPF7
Predicted Effect possibly damaging
Transcript: ENSMUST00000080925
AA Change: S116P

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000079726
Gene: ENSMUSG00000073900
AA Change: S116P

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 possibly damaging
Transcript: ENSMUST00000216868
AA Change: S116P

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,646,238 (GRCm39) N750K probably benign Het
Ackr2 T C 9: 121,738,566 (GRCm39) C314R probably benign Het
Adar C T 3: 89,652,747 (GRCm39) Q210* probably null Het
Aifm1 A G X: 47,569,153 (GRCm39) probably benign Het
Aldoa G T 7: 126,395,875 (GRCm39) D198E probably damaging Het
Ampd1 T A 3: 103,002,201 (GRCm39) probably benign Het
Arhgef18 G T 8: 3,414,697 (GRCm39) C25F probably benign Het
Btnl1 T C 17: 34,604,659 (GRCm39) I480T probably damaging Het
Capn9 T C 8: 125,318,508 (GRCm39) S125P probably benign Het
Cd40lg T A X: 56,257,592 (GRCm39) Y26* probably null Het
Cdc42bpg G T 19: 6,359,853 (GRCm39) probably null Het
Cdh10 T C 15: 18,986,855 (GRCm39) L362P probably benign Het
Dhx16 A G 17: 36,199,000 (GRCm39) D782G probably damaging Het
Dnajb14 G T 3: 137,611,761 (GRCm39) V320L possibly damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Ercc6 T C 14: 32,274,561 (GRCm39) V568A probably damaging Het
Faf2 T C 13: 54,789,311 (GRCm39) probably null Het
Fbrsl1 C T 5: 110,529,506 (GRCm39) V223M probably damaging Het
Fcrl5 T C 3: 87,351,598 (GRCm39) V282A probably damaging Het
Fxr2 C T 11: 69,543,448 (GRCm39) L650F possibly damaging Het
Gabrq A G X: 71,880,448 (GRCm39) M314V probably benign Het
Gnas T A 2: 174,140,125 (GRCm39) Y157* probably null Het
Gtf2i T C 5: 134,315,747 (GRCm39) E175G probably damaging Het
Gtf3c1 A C 7: 125,262,587 (GRCm39) Y1091D probably damaging Het
Heatr5b G A 17: 79,132,069 (GRCm39) Q345* probably null Het
Hydin T C 8: 111,319,408 (GRCm39) V4437A possibly damaging Het
Idi2 T A 13: 9,008,578 (GRCm39) L112Q probably damaging Het
Ift80 C T 3: 68,869,629 (GRCm39) V221M probably benign Het
Il16 A G 7: 83,301,507 (GRCm39) F205S probably benign Het
Irf1 T A 11: 53,665,277 (GRCm39) M218K probably benign Het
Itga8 T C 2: 12,270,144 (GRCm39) N114S probably benign Het
Itgae T C 11: 73,002,585 (GRCm39) V114A probably benign Het
Klhdc10 A G 6: 30,441,933 (GRCm39) probably null Het
Krt78 C A 15: 101,859,333 (GRCm39) R288L probably benign Het
Lars2 A T 9: 123,282,313 (GRCm39) L632F probably damaging Het
Mpdz T C 4: 81,235,919 (GRCm39) D1220G probably damaging Het
Msl1 C T 11: 98,696,245 (GRCm39) T597I probably damaging Het
Mtor T C 4: 148,615,070 (GRCm39) probably benign Het
Myo1b T C 1: 51,821,179 (GRCm39) T435A probably damaging Het
Neb A G 2: 52,115,679 (GRCm39) Y4176H probably damaging Het
Nxpe3 A G 16: 55,670,128 (GRCm39) F326L probably benign Het
Or13a21 T C 7: 139,999,581 (GRCm39) Y35C probably damaging Het
Pak5 T A 2: 135,929,333 (GRCm39) R617W probably damaging Het
Peak1 C A 9: 56,166,486 (GRCm39) V481L probably damaging Het
Pik3ap1 G A 19: 41,281,267 (GRCm39) probably benign Het
Pmm1 C T 15: 81,844,987 (GRCm39) E6K probably benign Het
Ppp2r5c G A 12: 110,546,868 (GRCm39) V454M probably benign Het
Ptprf C T 4: 118,106,095 (GRCm39) probably null Het
Pygm G A 19: 6,443,024 (GRCm39) probably null Het
Rimbp2 T A 5: 128,874,912 (GRCm39) probably benign Het
Rps6ka5 A T 12: 100,541,892 (GRCm39) probably null Het
Scarb2 A G 5: 92,608,662 (GRCm39) V188A probably benign Het
Sfrp1 T A 8: 23,902,354 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,820 (GRCm39) probably benign Het
Smgc A G 15: 91,738,796 (GRCm39) I485V probably benign Het
Tas2r124 A G 6: 132,731,798 (GRCm39) I36V probably benign Het
Trmt10b G T 4: 45,305,879 (GRCm39) G185W probably damaging Het
Ttll4 A G 1: 74,727,352 (GRCm39) N798S possibly damaging Het
Ttn G T 2: 76,619,896 (GRCm39) T15924N probably damaging Het
Utrn A T 10: 12,587,301 (GRCm39) Y912N possibly damaging Het
Vmn2r113 T C 17: 23,177,285 (GRCm39) Y690H probably benign Het
Vmn2r51 T C 7: 9,834,154 (GRCm39) R295G probably damaging Het
Vpreb3 A G 10: 75,784,231 (GRCm39) T14A probably benign Het
Other mutations in Or2ag1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02569:Or2ag1 APN 7 106,313,793 (GRCm39) missense probably benign 0.00
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 2014-02-04