Incidental Mutation 'IGL02456:Olfr630'
ID294171
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: 0.170) question?
Stock #IGL02456
Quality Score
Status
Chromosome7
Chromosomal Location103753480-103757333 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 103755493 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 31 (I31F)
Ref Sequence ENSEMBL: ENSMUSP00000102493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106880]
Predicted Effect possibly damaging
Transcript: ENSMUST00000106880
AA Change: I31F

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102493
Gene: ENSMUSG00000050281
AA Change: I31F

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T A 18: 38,261,124 L458Q probably damaging Het
4921511C20Rik T A X: 127,394,961 Y174* probably null Het
Apc C A 18: 34,313,882 S1243* probably null Het
Atp8b5 A G 4: 43,365,578 T731A probably benign Het
Bcl2a1c T A 9: 114,330,390 F79I probably damaging Het
Brip1 G T 11: 86,065,099 L863I possibly damaging Het
Cbx4 T A 11: 119,082,112 K146* probably null Het
Ccdc36 G T 9: 108,406,621 T208K probably benign Het
Ces1a C T 8: 93,039,498 V163I possibly damaging Het
Ces5a C T 8: 93,528,644 probably benign Het
Cfhr1 A C 1: 139,556,393 N128K possibly damaging Het
Clcn3 T C 8: 60,941,357 D46G probably damaging Het
Cntnap1 T G 11: 101,178,129 I166S probably benign Het
Cntnap3 A T 13: 64,799,058 probably benign Het
Cntnap5c T A 17: 58,407,744 probably benign Het
Ddx23 A T 15: 98,647,549 V626E probably damaging Het
Gcm2 T C 13: 41,103,001 Y424C probably benign Het
Gm9964 A G 11: 79,296,370 F84L probably damaging Het
Grn T A 11: 102,436,104 D509E probably benign Het
Kdm5c G A X: 152,246,318 D343N probably damaging Het
Ly75 C T 2: 60,293,781 M1717I probably benign Het
Map1a C A 2: 121,298,653 P133T probably damaging Het
Mpp2 C A 11: 102,059,373 A552S possibly damaging Het
Mtr T C 13: 12,199,094 I897M probably damaging Het
Npas3 A T 12: 54,048,767 I337F probably damaging Het
Nup85 T C 11: 115,581,865 probably benign Het
Olfr118 T A 17: 37,672,449 M142K possibly damaging Het
Olfr325 T A 11: 58,581,198 L118H possibly damaging Het
Olfr517 A G 7: 108,869,050 Y35H probably benign Het
Olfr683 T C 7: 105,143,759 N178S probably damaging Het
Pdia4 A T 6: 47,803,495 D301E probably benign Het
Phf2 C A 13: 48,828,846 G134C unknown Het
Polr2h T A 16: 20,720,602 L76H probably damaging Het
Rbm47 G A 5: 66,027,021 R80C probably damaging Het
Sfmbt1 T C 14: 30,785,880 S286P probably damaging Het
Slc5a12 T C 2: 110,616,834 probably benign Het
Tacc2 T C 7: 130,626,261 S1559P probably benign Het
Tbc1d16 T G 11: 119,210,546 H46P probably damaging Het
Tbck A G 3: 132,734,714 probably benign Het
Tmtc4 A T 14: 122,925,962 probably null Het
Ttc13 T C 8: 124,690,361 probably null Het
Ttc17 T C 2: 94,362,785 probably benign Het
Vmn1r121 T A 7: 21,098,513 M1L possibly damaging Het
Vps13c T C 9: 67,952,976 S2825P probably damaging Het
Zan A C 5: 137,446,844 S1718A unknown Het
Zfp39 G T 11: 58,902,800 Y37* probably null Het
Zfp407 T C 18: 84,558,641 N1449S probably damaging Het
Zhx2 C A 15: 57,823,639 D801E possibly damaging 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
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
Posted On2015-04-16