Incidental Mutation 'IGL01061:Olfr690'
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ID51417
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr690
Ensembl Gene ENSMUSG00000050266
Gene Nameolfactory receptor 690
SynonymsGA_x6K02T2PBJ9-7959171-7958224, MOR31-2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01061
Quality Score
Status
Chromosome7
Chromosomal Location105328225-105334104 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105329382 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 270 (I270T)
Ref Sequence ENSEMBL: ENSMUSP00000150831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061920] [ENSMUST00000211006] [ENSMUST00000216230]
Predicted Effect possibly damaging
Transcript: ENSMUST00000061920
AA Change: I270T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061272
Gene: ENSMUSG00000050266
AA Change: I270T

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 possibly damaging
Transcript: ENSMUST00000211006
AA Change: I270T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
Predicted Effect possibly damaging
Transcript: ENSMUST00000216230
AA Change: I270T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aen G A 7: 78,907,302 M299I probably damaging Het
Ankfy1 T A 11: 72,728,860 C186* probably null Het
Ankmy1 A T 1: 92,870,974 probably benign Het
B3gnt2 T A 11: 22,836,042 E382V probably damaging Het
Carmil3 T G 14: 55,498,630 S610A possibly damaging Het
Cfap70 T C 14: 20,447,625 probably benign Het
Chek1 G A 9: 36,714,519 R277C possibly damaging Het
Cpb1 T A 3: 20,266,516 I92L probably benign Het
Ddx56 C T 11: 6,264,671 probably null Het
Dicer1 A T 12: 104,706,327 M887K probably null Het
Dnajc18 A G 18: 35,680,942 probably benign Het
Dock2 A G 11: 34,705,826 V401A probably damaging Het
Dock4 A C 12: 40,702,969 N434T probably benign Het
Ehbp1l1 A T 19: 5,717,888 M1129K probably benign Het
Fam83a A T 15: 57,986,375 Y105F possibly damaging Het
Fnbp1 C A 2: 31,083,042 D70Y probably damaging Het
Gtf3c2 A G 5: 31,168,354 F414L possibly damaging Het
Kdelc2 A G 9: 53,388,587 probably benign Het
Kndc1 A T 7: 139,922,694 E965D probably benign Het
Lrrc66 T C 5: 73,615,499 K209E probably benign Het
Mcm3 A T 1: 20,814,496 I261N possibly damaging Het
Mier3 T A 13: 111,714,436 probably benign Het
Muc6 T C 7: 141,648,454 E669G probably damaging Het
Myh1 T A 11: 67,217,862 M1368K probably benign Het
Nav1 A G 1: 135,450,630 I1653T probably damaging Het
Nuak1 C A 10: 84,375,134 L363F probably damaging Het
Olfr113 A G 17: 37,574,904 I173T possibly damaging Het
Olfr1502 T C 19: 13,862,705 V304A possibly damaging Het
Pkd1l3 A G 8: 109,638,706 H1153R probably damaging Het
Ppp6r2 A T 15: 89,286,015 probably benign Het
Prelid3b T C 2: 174,465,821 probably null Het
Prrt3 T C 6: 113,497,770 K164E possibly damaging Het
Rab22a T A 2: 173,688,210 D60E probably damaging Het
Rab32 A G 10: 10,557,874 L72P probably damaging Het
Samm50 A G 15: 84,202,254 T225A probably benign Het
Snx27 T A 3: 94,528,980 probably benign Het
Taf7 G A 18: 37,643,433 T27M probably damaging Het
Tgm5 A T 2: 121,071,496 C231S probably benign Het
Tll1 A G 8: 64,038,454 probably null Het
Tmem150a A G 6: 72,357,118 D61G probably damaging Het
Ttll8 G A 15: 88,917,250 R412C possibly damaging Het
Ubr3 T A 2: 69,983,225 D1293E probably benign Het
Utp20 T C 10: 88,770,704 N1669D probably benign Het
Vmn2r28 A G 7: 5,488,184 W355R probably damaging Het
Wdr60 C A 12: 116,229,704 A543S probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfhx2 T A 14: 55,073,882 N452Y possibly damaging Het
Zfp180 T G 7: 24,104,745 D196E possibly damaging Het
Other mutations in Olfr690
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01403:Olfr690 APN 7 105329398 missense probably benign 0.01
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
Posted On2013-06-21