Incidental Mutation 'IGL01017:Or4p7'
ID 53449
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: 0.057) question?
Stock # IGL01017
Quality Score
Status
Chromosome 2
Chromosomal Location 88221593-88222564 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88222245 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 218 (V218E)
Ref Sequence ENSEMBL: ENSMUSP00000150036 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075640] [ENSMUST00000214040]
AlphaFold Q7TR20
Predicted Effect possibly damaging
Transcript: ENSMUST00000075640
AA Change: V218E

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000075066
Gene: ENSMUSG00000056995
AA Change: V218E

DomainStartEndE-ValueType
Pfam:7tm_4 29 303 2.5e-49 PFAM
Pfam:7tm_1 39 285 7.2e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000214040
AA Change: V218E

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambn G A 5: 88,607,218 (GRCm39) A29T probably damaging Het
Ankrd11 T C 8: 123,621,467 (GRCm39) K795R probably damaging Het
Atg3 T C 16: 45,004,174 (GRCm39) probably null Het
Ccdc169 T C 3: 55,078,739 (GRCm39) V200A possibly damaging Het
Cdr2l C A 11: 115,283,564 (GRCm39) Q141K probably damaging Het
Cts3 T A 13: 61,715,988 (GRCm39) I93F probably damaging Het
Eif2ak2 A G 17: 79,171,287 (GRCm39) L372S probably damaging Het
Elovl5 T C 9: 77,888,853 (GRCm39) I240T possibly damaging Het
Farp1 C T 14: 121,510,186 (GRCm39) A728V possibly damaging Het
Fbln1 A G 15: 85,128,390 (GRCm39) D529G possibly damaging Het
Flnb G T 14: 7,917,390 (GRCm38) probably benign Het
Gm14401 A T 2: 176,778,625 (GRCm39) H237L probably damaging Het
Hivep3 T A 4: 119,956,443 (GRCm39) H1586Q probably damaging Het
Igkv12-98 T A 6: 68,548,093 (GRCm39) L74* probably null Het
Iigp1c T A 18: 60,378,508 (GRCm39) D14E possibly damaging Het
Ktn1 T C 14: 47,946,335 (GRCm39) S917P probably benign Het
Lama3 T C 18: 12,574,200 (GRCm39) probably null Het
Lamb1 A G 12: 31,351,063 (GRCm39) D723G possibly damaging Het
Lrrc39 A T 3: 116,364,500 (GRCm39) R130S probably benign Het
Mcm3 A C 1: 20,875,039 (GRCm39) probably null Het
Muc19 T G 15: 91,764,901 (GRCm39) noncoding transcript Het
Necap2 A G 4: 140,794,879 (GRCm39) F266S probably damaging Het
Nfil3 C T 13: 53,122,055 (GRCm39) G283D probably damaging Het
Nlrp4e A T 7: 23,021,092 (GRCm39) K526N possibly damaging Het
Or13a20 A G 7: 140,232,389 (GRCm39) T166A probably benign Het
Pelp1 G A 11: 70,287,720 (GRCm39) R401W probably damaging Het
Phldb3 G T 7: 24,328,295 (GRCm39) C613F probably damaging Het
Ppp1ca T C 19: 4,243,110 (GRCm39) Y93H probably damaging Het
Ppp1r3b A G 8: 35,851,476 (GRCm39) E105G probably benign Het
Prb1a G T 6: 132,184,194 (GRCm39) Q480K unknown Het
Ryr1 A T 7: 28,781,968 (GRCm39) I2007N probably damaging Het
Scgb1b27 A G 7: 33,721,228 (GRCm39) T39A probably damaging Het
Serpinb3b T C 1: 107,082,187 (GRCm39) D359G probably benign Het
Sgo2b G T 8: 64,379,557 (GRCm39) R1092S probably benign Het
Sh3pxd2b C A 11: 32,353,993 (GRCm39) S187* probably null Het
Slc11a1 T A 1: 74,418,955 (GRCm39) L92H probably damaging Het
Smc3 T C 19: 53,617,758 (GRCm39) V585A probably damaging Het
Sp6 A G 11: 96,913,429 (GRCm39) probably benign Het
Spata16 A T 3: 26,894,871 (GRCm39) I307F possibly damaging Het
Tfpi2 T A 6: 3,965,359 (GRCm39) H33L probably benign Het
Tnxb T A 17: 34,912,782 (GRCm39) D1642E probably damaging Het
Ttc1 T C 11: 43,621,320 (GRCm39) N287S probably damaging Het
Ttc9 G A 12: 81,678,536 (GRCm39) V120I possibly damaging Het
Umps A G 16: 33,787,272 (GRCm39) V27A probably damaging Het
Usp50 C A 2: 126,551,334 (GRCm39) M48I probably damaging Het
Vmn1r76 A T 7: 11,664,309 (GRCm39) C267S possibly damaging Het
Wee1 A T 7: 109,725,055 (GRCm39) D275V possibly damaging Het
Zmym6 C T 4: 126,982,152 (GRCm39) P63L probably benign Het
Other mutations in Or4p7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02261:Or4p7 APN 2 88,221,725 (GRCm39) missense probably benign 0.05
IGL03023:Or4p7 APN 2 88,221,687 (GRCm39) missense probably damaging 1.00
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 2013-06-28