Incidental Mutation 'IGL02638:Or4k45'
ID 301594
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4k45
Ensembl Gene ENSMUSG00000108919
Gene Name olfactory receptor family 4 subfamily K member 45
Synonyms MOR248-10, GA_x6K02T2Q125-72616944-72616006, Olfr1295
Accession Numbers
Essential gene? Probably non essential (E-score: 0.131) question?
Stock # IGL02638
Quality Score
Status
Chromosome 2
Chromosomal Location 111394849-111395787 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 111395249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 180 (D180G)
Ref Sequence ENSEMBL: ENSMUSP00000151314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000207283] [ENSMUST00000207786] [ENSMUST00000217772]
AlphaFold Q8VF48
Predicted Effect probably damaging
Transcript: ENSMUST00000207283
AA Change: D180G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000207786
AA Change: D180G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209152
Predicted Effect probably damaging
Transcript: ENSMUST00000217772
AA Change: D180G

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh3 T A 2: 93,838,458 (GRCm39) T38S probably benign Het
Btbd8 T C 5: 107,656,422 (GRCm39) V895A possibly damaging Het
Cdkn2c A G 4: 109,522,209 (GRCm39) probably benign Het
Clca4b A C 3: 144,631,939 (GRCm39) C189G probably damaging Het
Clec4f T A 6: 83,629,682 (GRCm39) N292I possibly damaging Het
Dkk3 A C 7: 111,748,234 (GRCm39) S123R probably benign Het
Dock1 C T 7: 134,748,209 (GRCm39) A1557V probably benign Het
E130308A19Rik C T 4: 59,719,676 (GRCm39) Q403* probably null Het
F5 G A 1: 164,012,177 (GRCm39) probably null Het
Fam98c T A 7: 28,852,187 (GRCm39) D326V probably damaging Het
Firrm G A 1: 163,786,868 (GRCm39) Q734* probably null Het
Frem2 A C 3: 53,458,767 (GRCm39) V2034G possibly damaging Het
Galnt2 G A 8: 124,958,318 (GRCm39) G18D probably damaging Het
Grhl3 T C 4: 135,284,176 (GRCm39) E222G probably benign Het
Hif3a A C 7: 16,778,293 (GRCm39) probably benign Het
Ibtk C T 9: 85,601,946 (GRCm39) G755D probably damaging Het
Laptm4b A G 15: 34,277,630 (GRCm39) N187S probably benign Het
Lrba A G 3: 86,232,380 (GRCm39) T776A probably damaging Het
Matcap2 A T 9: 22,341,775 (GRCm39) K149* probably null Het
Mfhas1 T A 8: 36,058,104 (GRCm39) W860R possibly damaging Het
Mon2 A C 10: 122,859,844 (GRCm39) W811G probably damaging Het
Nup42 A G 5: 24,380,505 (GRCm39) T167A probably benign Het
Or10j2 A G 1: 173,097,898 (GRCm39) D52G probably benign Het
Or2z2 C A 11: 58,345,873 (GRCm39) A301S probably damaging Het
Or5w10 T C 2: 87,375,093 (GRCm39) Y265C probably damaging Het
Or8j3c T C 2: 86,254,021 (GRCm39) probably null Het
Pgap2 T C 7: 101,886,629 (GRCm39) L217P probably damaging Het
Pik3c2b T G 1: 133,005,056 (GRCm39) probably benign Het
Ppfia3 T A 7: 45,006,092 (GRCm39) D149V probably damaging Het
Prkcb C T 7: 122,200,063 (GRCm39) probably benign Het
Prl A G 13: 27,245,562 (GRCm39) D97G probably benign Het
Psma5-ps T C 10: 85,149,698 (GRCm39) noncoding transcript Het
Rnf112 T C 11: 61,340,231 (GRCm39) probably benign Het
Slc17a8 C A 10: 89,412,465 (GRCm39) G323* probably null Het
Snx19 T C 9: 30,343,660 (GRCm39) F607L possibly damaging Het
Suco A G 1: 161,655,256 (GRCm39) S1079P probably damaging Het
Taf5 T C 19: 47,056,649 (GRCm39) L149P probably benign Het
Taf6l T C 19: 8,752,630 (GRCm39) M379V probably benign Het
Tcf25 T C 8: 124,126,031 (GRCm39) F558L probably damaging Het
Tlcd1 T C 11: 78,070,444 (GRCm39) V102A probably benign Het
Tmc5 G T 7: 118,226,456 (GRCm39) A274S probably benign Het
Toporsl C T 4: 52,611,624 (GRCm39) H506Y probably benign Het
Ubtd1 T C 19: 42,022,109 (GRCm39) L127P possibly damaging Het
Usp24 A C 4: 106,295,967 (GRCm39) probably benign Het
Usp24 C A 4: 106,295,969 (GRCm39) probably benign Het
Usp43 T G 11: 67,746,581 (GRCm39) D1042A probably benign Het
Whrn T C 4: 63,337,709 (GRCm39) T48A possibly damaging Het
Wnt2b A G 3: 104,862,032 (GRCm39) I102T probably benign Het
Zfp763 T C 17: 33,238,908 (GRCm39) D79G probably benign Het
Zmat4 A G 8: 24,287,389 (GRCm39) Y45C probably damaging Het
Other mutations in Or4k45
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02110:Or4k45 APN 2 111,395,252 (GRCm39) missense probably damaging 1.00
IGL02426:Or4k45 APN 2 111,394,883 (GRCm39) missense probably benign
IGL02743:Or4k45 APN 2 111,394,888 (GRCm39) missense possibly damaging 0.95
IGL03161:Or4k45 APN 2 111,395,676 (GRCm39) missense possibly damaging 0.78
G1patch:Or4k45 UTSW 2 111,395,252 (GRCm39) missense probably damaging 1.00
PIT4377001:Or4k45 UTSW 2 111,395,556 (GRCm39) missense probably damaging 0.98
R0448:Or4k45 UTSW 2 111,395,559 (GRCm39) missense probably benign 0.42
R1634:Or4k45 UTSW 2 111,395,691 (GRCm39) missense probably benign 0.00
R2065:Or4k45 UTSW 2 111,395,057 (GRCm39) missense probably damaging 0.99
R5308:Or4k45 UTSW 2 111,394,899 (GRCm39) missense probably damaging 0.99
R5534:Or4k45 UTSW 2 111,395,349 (GRCm39) missense probably benign 0.00
R5990:Or4k45 UTSW 2 111,395,019 (GRCm39) missense probably damaging 0.99
R6725:Or4k45 UTSW 2 111,395,252 (GRCm39) missense probably damaging 1.00
R7492:Or4k45 UTSW 2 111,395,166 (GRCm39) missense probably benign 0.00
R8116:Or4k45 UTSW 2 111,395,783 (GRCm39) missense probably benign 0.01
R8400:Or4k45 UTSW 2 111,395,747 (GRCm39) missense probably damaging 1.00
R8493:Or4k45 UTSW 2 111,395,324 (GRCm39) missense probably damaging 1.00
R9636:Or4k45 UTSW 2 111,395,786 (GRCm39) start codon destroyed probably null 1.00
R9736:Or4k45 UTSW 2 111,395,626 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16