Incidental Mutation 'IGL03173:Olfr630'
ID411917
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 #IGL03173
Quality Score
Status
Chromosome7
Chromosomal Location103753480-103757333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 103754976 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 203 (V203A)
Ref Sequence ENSEMBL: ENSMUSP00000102493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106880]
Predicted Effect probably benign
Transcript: ENSMUST00000052826
AA Change: V203A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000049569
Gene: ENSMUSG00000050281
AA Change: V203A

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 benign
Transcript: ENSMUST00000106880
AA Change: V203A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: V203A

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
Meta Mutation Damage Score 0.0898 question?
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
Atg2b T C 12: 105,658,294 K649E possibly damaging Het
B230359F08Rik T C 14: 53,796,077 probably benign Het
Cnnm4 A G 1: 36,473,092 probably benign Het
Cntrob C T 11: 69,310,027 A503T possibly damaging Het
D3Ertd751e T A 3: 41,756,062 Y170N probably damaging Het
Ddx23 T C 15: 98,651,004 I306V probably benign Het
Ep400 A G 5: 110,708,871 probably benign Het
Gmps T C 3: 63,990,329 V234A probably damaging Het
Hivep2 G T 10: 14,127,982 G108V possibly damaging Het
Irgc1 T C 7: 24,433,302 E30G probably damaging Het
Krt75 T C 15: 101,572,727 Y204C probably damaging Het
Ms4a14 G A 19: 11,304,196 L333F possibly damaging Het
Olfr1065 A T 2: 86,445,444 C179* probably null Het
Olfr1440 T A 19: 12,395,046 M261K possibly damaging Het
Pitpnm3 G A 11: 72,092,563 T80I probably benign Het
Pou2f2 T C 7: 25,099,946 probably benign Het
Slc34a1 T C 13: 55,413,276 L518P probably damaging Het
Sorbs1 T A 19: 40,363,262 T235S probably damaging Het
Ssxa1 C T X: 21,118,985 R41C probably benign Het
Syt2 A G 1: 134,743,579 N142D possibly damaging Het
Taf3 A G 2: 9,952,927 V143A probably damaging Het
Tti1 A G 2: 158,007,012 probably benign Het
Vmn2r13 T C 5: 109,171,779 E445G possibly damaging Het
Zfp663 G T 2: 165,352,499 T600K probably damaging Het
Zfp750 G A 11: 121,513,825 Q75* probably null Het
Other mutations in Olfr630
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Olfr630 APN 7 103755006 missense probably damaging 1.00
IGL01111:Olfr630 APN 7 103755373 missense probably benign 0.07
IGL02456:Olfr630 APN 7 103755493 missense possibly damaging 0.94
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
R8867:Olfr630 UTSW 7 103754686 nonsense probably null
R8875:Olfr630 UTSW 7 103755255 missense probably damaging 1.00
Posted On2016-08-02