Incidental Mutation 'IGL03023:Or4p7'
ID 408047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or4p7
Ensembl Gene ENSMUSG00000056995
Gene Name olfactory receptor family 4 subfamily P member 7
Synonyms Olfr1178, GA_x6K02T2Q125-49870417-49871388, MOR225-6P
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # IGL03023
Quality Score
Status
Chromosome 2
Chromosomal Location 88221593-88222564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 88221687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 32 (C32Y)
Ref Sequence ENSEMBL: ENSMUSP00000150036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075640] [ENSMUST00000214040]
AlphaFold Q7TR20
Predicted Effect probably damaging
Transcript: ENSMUST00000075640
AA Change: C32Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000075066
Gene: ENSMUSG00000056995
AA Change: C32Y

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-49 PFAM
Pfam:7tm_1 39 285 7.2e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000214040
AA Change: C32Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219086
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,859,419 (GRCm39) D28G probably damaging Het
Btaf1 C T 19: 36,987,415 (GRCm39) R1746C possibly damaging Het
Comp T C 8: 70,831,260 (GRCm39) probably benign Het
Cspg4b A G 13: 113,488,275 (GRCm39) D99G probably benign Het
Cyp2d9 A G 15: 82,339,719 (GRCm39) T313A probably damaging Het
Cyp3a59 T A 5: 146,022,660 (GRCm39) D55E probably benign Het
Dysf A G 6: 84,169,989 (GRCm39) Y1790C probably damaging Het
Fmo3 A C 1: 162,786,034 (GRCm39) F319V probably benign Het
Frem2 A T 3: 53,563,049 (GRCm39) V486D probably benign Het
Gucy2c A T 6: 136,679,794 (GRCm39) probably null Het
Hdac7 A T 15: 97,695,838 (GRCm39) Y674N probably damaging Het
Inpp5a G A 7: 139,105,702 (GRCm39) probably null Het
Jup T C 11: 100,271,518 (GRCm39) probably benign Het
Krt84 T C 15: 101,436,880 (GRCm39) T385A possibly damaging Het
Nbeal1 T C 1: 60,292,572 (GRCm39) Y1075H probably damaging Het
Nphp4 A G 4: 152,608,692 (GRCm39) probably null Het
Or10ak11 A T 4: 118,687,449 (GRCm39) F63I probably damaging Het
Or12d17 A G 17: 37,777,885 (GRCm39) T263A probably benign Het
Psmc4 T A 7: 27,742,285 (GRCm39) I264L possibly damaging Het
Rwdd4a T C 8: 47,995,803 (GRCm39) V61A probably benign Het
Setx A G 2: 29,035,914 (GRCm39) T800A probably benign Het
Vmn1r74 T C 7: 11,581,257 (GRCm39) C186R possibly damaging Het
Vsig2 A G 9: 37,453,708 (GRCm39) Y136C probably damaging Het
Other mutations in Or4p7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01017:Or4p7 APN 2 88,222,245 (GRCm39) missense possibly damaging 0.79
IGL02261:Or4p7 APN 2 88,221,725 (GRCm39) missense probably benign 0.05
IGL03053:Or4p7 APN 2 88,221,938 (GRCm39) missense probably damaging 1.00
IGL03168:Or4p7 APN 2 88,221,938 (GRCm39) missense probably damaging 1.00
R0432:Or4p7 UTSW 2 88,222,377 (GRCm39) missense probably damaging 0.98
R1738:Or4p7 UTSW 2 88,221,671 (GRCm39) missense probably benign 0.01
R2051:Or4p7 UTSW 2 88,221,882 (GRCm39) missense possibly damaging 0.49
R2136:Or4p7 UTSW 2 88,221,663 (GRCm39) missense probably benign 0.24
R3236:Or4p7 UTSW 2 88,221,750 (GRCm39) missense probably benign 0.01
R4407:Or4p7 UTSW 2 88,222,427 (GRCm39) missense probably benign 0.37
R4930:Or4p7 UTSW 2 88,222,284 (GRCm39) missense probably benign 0.12
R4959:Or4p7 UTSW 2 88,221,674 (GRCm39) missense probably benign 0.37
R4973:Or4p7 UTSW 2 88,221,674 (GRCm39) missense probably benign 0.37
R5178:Or4p7 UTSW 2 88,221,819 (GRCm39) missense possibly damaging 0.50
R5411:Or4p7 UTSW 2 88,221,605 (GRCm39) missense probably benign 0.01
R6282:Or4p7 UTSW 2 88,221,877 (GRCm39) nonsense probably null
R7289:Or4p7 UTSW 2 88,222,050 (GRCm39) missense probably damaging 0.99
R7493:Or4p7 UTSW 2 88,222,224 (GRCm39) missense possibly damaging 0.94
R7591:Or4p7 UTSW 2 88,222,220 (GRCm39) missense probably benign 0.17
R8060:Or4p7 UTSW 2 88,221,848 (GRCm39) missense probably benign 0.00
R8242:Or4p7 UTSW 2 88,222,418 (GRCm39) missense possibly damaging 0.50
Z1176:Or4p7 UTSW 2 88,222,377 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02