Incidental Mutation 'IGL01355:Olfr617'
ID 75486
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr617
Ensembl Gene ENSMUSG00000073946
Gene Name olfactory receptor 617
Synonyms GA_x6K02T2PBJ9-6306819-6307775, MOR31-10
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.064) question?
Stock # IGL01355
Quality Score
Status
Chromosome 7
Chromosomal Location 103573061-103586795 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103584373 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 117 (E117G)
Ref Sequence ENSEMBL: ENSMUSP00000149045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048265] [ENSMUST00000215755] [ENSMUST00000216516]
AlphaFold Q8VGA1
Predicted Effect probably damaging
Transcript: ENSMUST00000048265
AA Change: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040319
Gene: ENSMUSG00000073946
AA Change: E117G

DomainStartEndE-ValueType
Pfam:7tm_4 37 316 8.5e-109 PFAM
Pfam:7TM_GPCR_Srsx 41 225 2.3e-10 PFAM
Pfam:7tm_1 47 299 4.6e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000179692
Predicted Effect probably damaging
Transcript: ENSMUST00000215755
AA Change: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000216516
AA Change: E117G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajap1 C T 4: 153,386,481 V290I probably damaging Het
Ankrd12 A G 17: 65,970,340 probably benign Het
Anxa4 A T 6: 86,752,205 I140N probably damaging Het
Asap2 A G 12: 21,218,086 probably benign Het
Cd36 C T 5: 17,813,074 V214I possibly damaging Het
Col24a1 T C 3: 145,314,876 L336S probably benign Het
Dcc C T 18: 71,809,114 V311I probably benign Het
Gpr146 A T 5: 139,378,904 probably benign Het
Irf1 T C 11: 53,774,361 V188A probably benign Het
Limk1 G A 5: 134,657,900 probably benign Het
Mcidas T C 13: 112,999,069 F342S probably damaging Het
Mctp1 A G 13: 76,384,955 T141A probably benign Het
Mnd1 C A 3: 84,116,477 A101S probably benign Het
Nsun7 T C 5: 66,294,868 S466P probably damaging Het
Olfr1279 T A 2: 111,307,093 I296K probably benign Het
Olfr165 C T 16: 19,407,583 M145I probably benign Het
Pik3c2g G T 6: 139,852,857 G371V probably damaging Het
Sdad1 A G 5: 92,302,679 V199A probably damaging Het
Spg11 C T 2: 122,113,156 V172I probably benign Het
Tas2r108 A G 6: 40,493,751 T54A possibly damaging Het
Tmem121b A G 6: 120,492,466 L430P probably damaging Het
Traf3ip1 A G 1: 91,518,297 D384G probably damaging Het
Trank1 A G 9: 111,365,520 T871A possibly damaging Het
Vegfa T C 17: 46,025,421 M258V possibly damaging Het
Zbtb49 A G 5: 38,210,616 probably null Het
Other mutations in Olfr617
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01306:Olfr617 APN 7 103584693 missense probably damaging 1.00
IGL01411:Olfr617 APN 7 103584117 missense probably damaging 1.00
IGL01412:Olfr617 APN 7 103584907 missense probably damaging 1.00
IGL02379:Olfr617 APN 7 103584892 missense possibly damaging 0.84
ANU23:Olfr617 UTSW 7 103584693 missense probably damaging 1.00
IGL03054:Olfr617 UTSW 7 103584840 missense probably benign 0.23
R0536:Olfr617 UTSW 7 103584261 missense probably damaging 1.00
R4222:Olfr617 UTSW 7 103584759 missense probably damaging 1.00
R4224:Olfr617 UTSW 7 103584759 missense probably damaging 1.00
R5342:Olfr617 UTSW 7 103584828 missense probably benign 0.05
R5587:Olfr617 UTSW 7 103584531 missense probably benign 0.07
R5607:Olfr617 UTSW 7 103584299 nonsense probably null
R5608:Olfr617 UTSW 7 103584299 nonsense probably null
R6904:Olfr617 UTSW 7 103584520 missense possibly damaging 0.83
R6929:Olfr617 UTSW 7 103584444 missense probably damaging 0.98
R7399:Olfr617 UTSW 7 103584381 missense possibly damaging 0.78
R7607:Olfr617 UTSW 7 103584930 missense probably damaging 0.97
R7771:Olfr617 UTSW 7 103584090 missense probably benign 0.33
Z1177:Olfr617 UTSW 7 103584699 missense probably benign 0.41
Z1177:Olfr617 UTSW 7 103584947 missense probably benign
Posted On 2013-10-07