Incidental Mutation 'IGL01403:Olfr690'
ID 79716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr690
Ensembl Gene ENSMUSG00000050266
Gene Name olfactory receptor 690
Synonyms GA_x6K02T2PBJ9-7959171-7958224, MOR31-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01403
Quality Score
Status
Chromosome 7
Chromosomal Location 105328225-105334104 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 105329398 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 265 (R265C)
Ref Sequence ENSEMBL: ENSMUSP00000150831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061920] [ENSMUST00000211006] [ENSMUST00000216230]
AlphaFold Q8VH18
Predicted Effect probably benign
Transcript: ENSMUST00000061920
AA Change: R265C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000061272
Gene: ENSMUSG00000050266
AA Change: R265C

DomainStartEndE-ValueType
transmembrane domain 2 19 N/A INTRINSIC
Pfam:7tm_4 33 312 2e-110 PFAM
Pfam:7TM_GPCR_Srsx 37 264 1.4e-9 PFAM
Pfam:7tm_1 43 294 1.7e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209868
Predicted Effect probably benign
Transcript: ENSMUST00000211006
AA Change: R265C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
Predicted Effect probably benign
Transcript: ENSMUST00000216230
AA Change: R265C

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik T C 2: 111,229,170 probably benign Het
Abcb5 A T 12: 118,872,867 L1103Q probably damaging Het
Adam12 T A 7: 133,919,610 Q605L probably benign Het
Adk A G 14: 21,234,915 K102R probably damaging Het
Afdn C T 17: 13,903,870 P1761S probably damaging Het
Ascc1 A G 10: 60,012,458 probably benign Het
Aspdh A G 7: 44,466,559 probably null Het
Bbx T C 16: 50,202,513 I753V probably benign Het
Ccdc33 T C 9: 58,117,385 Y186C probably damaging Het
Ccdc78 T A 17: 25,788,244 probably null Het
Ckmt1 T C 2: 121,362,966 probably benign Het
Csf1r A G 18: 61,114,825 T322A probably benign Het
Dnah7b T C 1: 46,116,300 probably benign Het
Dr1 A G 5: 108,269,710 N41D possibly damaging Het
Ehmt1 G A 2: 24,839,626 T633I possibly damaging Het
Fgf7 T A 2: 126,035,940 Y76N probably damaging Het
Hmcn1 A T 1: 150,593,097 W5038R probably damaging Het
Ighv14-1 A G 12: 113,932,242 V21A probably damaging Het
Igkv5-37 T A 6: 69,963,436 I75F probably damaging Het
Inhbc T A 10: 127,370,099 I100F probably damaging Het
Irs3 A G 5: 137,645,319 F68L probably damaging Het
Itpr3 T A 17: 27,118,595 C2460S probably damaging Het
Krt34 A G 11: 100,038,290 C365R possibly damaging Het
Krt81 G A 15: 101,463,388 H104Y probably benign Het
Ly6g A G 15: 75,158,648 N82S probably damaging Het
Mrpl58 A T 11: 115,406,578 I72F probably damaging Het
Myo9a G A 9: 59,871,563 R1534H probably damaging Het
Npat T A 9: 53,555,129 F239L probably benign Het
Nsd2 A G 5: 33,885,378 probably benign Het
Nuggc T C 14: 65,623,186 V427A probably benign Het
Olfr476 A G 7: 107,967,621 T75A possibly damaging Het
Pde4a A T 9: 21,205,116 I467F probably damaging Het
Pkhd1l1 T A 15: 44,483,833 C198* probably null Het
Pla2r1 A G 2: 60,424,288 V1312A probably damaging Het
Pola2 T C 19: 5,959,093 H79R probably benign Het
Pramef20 A T 4: 144,377,133 M141K probably benign Het
Psen2 A T 1: 180,234,983 probably benign Het
Rnf213 A G 11: 119,443,300 K3112E probably damaging Het
Slc6a4 G T 11: 77,031,672 V630L probably benign Het
Smg1 A T 7: 118,158,132 probably benign Het
Tmc8 A G 11: 117,791,074 T510A possibly damaging Het
Usp18 T A 6: 121,268,668 H334Q possibly damaging Het
Vmn2r103 T C 17: 19,792,967 Y117H probably benign Het
Vps13b T A 15: 35,709,479 D1857E probably benign Het
Other mutations in Olfr690
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01061:Olfr690 APN 7 105329382 missense possibly damaging 0.95
IGL01546:Olfr690 APN 7 105329692 missense probably damaging 1.00
IGL02936:Olfr690 APN 7 105330005 nonsense probably null
R0206:Olfr690 UTSW 7 105329883 missense possibly damaging 0.76
R0206:Olfr690 UTSW 7 105329883 missense possibly damaging 0.76
R1425:Olfr690 UTSW 7 105329715 missense probably damaging 1.00
R1911:Olfr690 UTSW 7 105329383 missense probably benign 0.11
R2126:Olfr690 UTSW 7 105329252 nonsense probably null
R2511:Olfr690 UTSW 7 105329610 missense probably damaging 1.00
R2919:Olfr690 UTSW 7 105329860 missense probably damaging 1.00
R3755:Olfr690 UTSW 7 105330151 missense probably damaging 1.00
R4152:Olfr690 UTSW 7 105329385 missense probably damaging 1.00
R4153:Olfr690 UTSW 7 105329385 missense probably damaging 1.00
R4154:Olfr690 UTSW 7 105329385 missense probably damaging 1.00
R4247:Olfr690 UTSW 7 105330148 missense probably benign
R5015:Olfr690 UTSW 7 105329604 missense possibly damaging 0.61
R5143:Olfr690 UTSW 7 105329524 missense probably damaging 1.00
R5642:Olfr690 UTSW 7 105329565 missense probably damaging 1.00
R6747:Olfr690 UTSW 7 105330027 missense probably benign 0.00
R6961:Olfr690 UTSW 7 105329706 missense probably damaging 1.00
R7074:Olfr690 UTSW 7 105329268 missense probably benign 0.44
R8066:Olfr690 UTSW 7 105329554 missense possibly damaging 0.87
R9273:Olfr690 UTSW 7 105329439 missense probably damaging 1.00
R9314:Olfr690 UTSW 7 105329874 missense probably damaging 1.00
Posted On 2013-11-05