Incidental Mutation 'IGL00896:Olfr630'
ID27752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr630
Ensembl Gene ENSMUSG00000050281
Gene Nameolfactory receptor 630
SynonymsMOR17-1, GA_x6K02T2PBJ9-6483085-6482126
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #IGL00896
Quality Score
Status
Chromosome7
Chromosomal Location103753480-103757333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 103755006 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 193 (D193G)
Ref Sequence ENSEMBL: ENSMUSP00000102493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106880]
Predicted Effect probably damaging
Transcript: ENSMUST00000052826
AA Change: D193G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: D193G

DomainStartEndE-ValueType
Pfam:7tm_4 33 312 3.4e-120 PFAM
Pfam:7TM_GPCR_Srsx 37 305 3.7e-8 PFAM
Pfam:7tm_1 43 294 1.1e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106880
AA Change: D193G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: D193G

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srsx 37 305 3.7e-8 PFAM
Pfam:7tm_1 43 294 8.4e-25 PFAM
Pfam:7tm_4 144 287 9e-29 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217072
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,039,462 T4352A probably benign Het
Adam6a A G 12: 113,545,410 T468A possibly damaging Het
Ankrd35 A G 3: 96,684,276 E626G probably damaging Het
Arhgef4 A G 1: 34,811,696 Y1812C possibly damaging Het
Aurkc T C 7: 7,002,514 Y260H possibly damaging Het
Cpb1 A G 3: 20,252,029 V329A probably benign Het
Cyp2d11 G T 15: 82,391,074 probably benign Het
Dnase1 G A 16: 4,039,212 S28N probably benign Het
Evpl C A 11: 116,222,584 E1427* probably null Het
Gimap6 T C 6: 48,702,460 N214S probably benign Het
Htr1f A T 16: 64,926,106 H274Q probably benign Het
Ipo9 A T 1: 135,400,059 V538E probably damaging Het
Lmf2 T C 15: 89,353,336 K308E probably benign Het
Mog T A 17: 37,017,485 probably null Het
Myo19 T C 11: 84,909,498 V903A probably benign Het
Myt1l A G 12: 29,826,886 T179A unknown Het
Nckap1 C T 2: 80,580,953 V5M possibly damaging Het
Olfr382 T C 11: 73,516,341 N286S probably damaging Het
Olfr459 A T 6: 41,772,113 L62Q probably damaging Het
Pcdhb5 T G 18: 37,322,785 probably null Het
Pcm1 C A 8: 41,276,123 Q711K possibly damaging Het
Pde6a A G 18: 61,220,792 D63G possibly damaging Het
Piezo1 T C 8: 122,497,870 M711V possibly damaging Het
Prrxl1 C T 14: 32,605,214 probably benign Het
Rev1 G A 1: 38,098,940 T88I probably damaging Het
Sntg1 A T 1: 8,595,410 probably null Het
Sult2a1 T A 7: 13,832,640 T137S probably benign Het
Txndc15 G A 13: 55,725,675 A283T probably damaging Het
Zswim8 A G 14: 20,716,001 E785G probably damaging Het
Other mutations in Olfr630
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Olfr630 APN 7 103755373 missense probably benign 0.07
IGL02456:Olfr630 APN 7 103755493 missense possibly damaging 0.94
IGL03173:Olfr630 APN 7 103754976 missense probably benign 0.00
R1104:Olfr630 UTSW 7 103754976 missense probably benign 0.00
R1507:Olfr630 UTSW 7 103755021 missense probably benign 0.00
R1695:Olfr630 UTSW 7 103754924 nonsense probably null
R1966:Olfr630 UTSW 7 103755168 missense probably damaging 1.00
R1971:Olfr630 UTSW 7 103755320 nonsense probably null
R2696:Olfr630 UTSW 7 103755528 missense probably damaging 0.96
R4943:Olfr630 UTSW 7 103755296 missense probably benign 0.12
R5622:Olfr630 UTSW 7 103755169 missense probably damaging 0.99
R6365:Olfr630 UTSW 7 103755195 missense probably benign 0.00
R7592:Olfr630 UTSW 7 103755072 missense probably damaging 1.00
R8146:Olfr630 UTSW 7 103755303 missense probably damaging 1.00
R8283:Olfr630 UTSW 7 103754812 missense possibly damaging 0.51
Posted On2013-04-17