Incidental Mutation 'IGL01472:Or5p4'
ID 88282
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Or5p4
Ensembl Gene ENSMUSG00000054236
Gene Name olfactory receptor family 5 subfamily P member 4
Synonyms MOR204-39, MOR204-2, Olfr481, GA_x6K02T2PBJ9-10409785-10410723
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # IGL01472
Quality Score
Status
Chromosome 7
Chromosomal Location 107680003-107680941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107680411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 137 (S137P)
Ref Sequence ENSEMBL: ENSMUSP00000151152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067143] [ENSMUST00000213601]
AlphaFold Q8VGI5
Predicted Effect probably benign
Transcript: ENSMUST00000067143
AA Change: S137P

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000063555
Gene: ENSMUSG00000054236
AA Change: S137P

DomainStartEndE-ValueType
Pfam:7tm_4 31 308 6.5e-51 PFAM
Pfam:7tm_1 41 290 1.4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210338
Predicted Effect probably benign
Transcript: ENSMUST00000213601
AA Change: S137P

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 G A 7: 119,153,759 (GRCm39) probably null Het
Adamts4 T C 1: 171,080,419 (GRCm39) F324S probably damaging Het
Alg10b T A 15: 90,111,900 (GRCm39) L248Q possibly damaging Het
Antxr2 T A 5: 98,175,358 (GRCm39) T90S probably benign Het
Arhgap21 C T 2: 20,854,392 (GRCm39) E1657K probably damaging Het
Atp13a5 T G 16: 29,094,175 (GRCm39) D803A probably damaging Het
Bzw2 T C 12: 36,159,795 (GRCm39) D185G probably damaging Het
Camta2 A G 11: 70,574,950 (GRCm39) S62P probably damaging Het
Cep85 T C 4: 133,861,477 (GRCm39) Q599R possibly damaging Het
Chsy3 G A 18: 59,309,439 (GRCm39) V231I probably damaging Het
Cnbd2 C T 2: 156,217,268 (GRCm39) R457W probably damaging Het
Col20a1 A G 2: 180,649,625 (GRCm39) T1036A probably benign Het
Colgalt2 T C 1: 152,382,629 (GRCm39) Y494H probably damaging Het
Cox15 G T 19: 43,732,104 (GRCm39) Y237* probably null Het
Cpne9 C A 6: 113,269,983 (GRCm39) S281Y possibly damaging Het
D830013O20Rik G A 12: 73,411,090 (GRCm39) noncoding transcript Het
Dnah5 C T 15: 28,331,872 (GRCm39) R2153C probably damaging Het
Fam228a A G 12: 4,765,610 (GRCm39) I267T possibly damaging Het
Fat4 G A 3: 38,942,219 (GRCm39) A371T probably damaging Het
Gm1818 T C 12: 48,603,072 (GRCm39) noncoding transcript Het
Gm5592 T C 7: 40,935,498 (GRCm39) probably benign Het
Golga4 C A 9: 118,361,642 (GRCm39) L207I probably damaging Het
Gtf3c1 A G 7: 125,250,226 (GRCm39) probably benign Het
Hao1 C T 2: 134,396,150 (GRCm39) E35K probably benign Het
Iqch T C 9: 63,455,216 (GRCm39) I194V probably benign Het
Ism1 A T 2: 139,599,223 (GRCm39) T392S probably damaging Het
Lcmt1 A G 7: 123,027,376 (GRCm39) Y313C probably damaging Het
Loxl4 A G 19: 42,585,988 (GRCm39) C718R probably damaging Het
Lyar T G 5: 38,382,066 (GRCm39) I16R possibly damaging Het
Map3k20 T C 2: 72,185,897 (GRCm39) probably benign Het
Mtus1 T C 8: 41,455,449 (GRCm39) T941A probably benign Het
Myh8 A G 11: 67,179,205 (GRCm39) probably benign Het
Myof T C 19: 37,911,524 (GRCm39) D1482G probably benign Het
Nr4a3 C A 4: 48,071,133 (GRCm39) A534D probably damaging Het
Oas1c A G 5: 120,940,986 (GRCm39) V269A probably damaging Het
Odf2 T A 2: 29,783,071 (GRCm39) S5T probably damaging Het
Or5d36 T A 2: 87,901,322 (GRCm39) T135S possibly damaging Het
Or9s27 T A 1: 92,516,694 (GRCm39) M214K possibly damaging Het
Pbk A G 14: 66,054,159 (GRCm39) T235A probably benign Het
Phrf1 T C 7: 140,836,403 (GRCm39) probably benign Het
Prkci A G 3: 31,104,341 (GRCm39) D568G probably damaging Het
Prom2 T A 2: 127,374,802 (GRCm39) Y578F probably benign Het
Prph T C 15: 98,956,474 (GRCm39) probably benign Het
Ryr3 A G 2: 112,502,593 (GRCm39) V3527A probably benign Het
Scn10a C T 9: 119,446,829 (GRCm39) V1400I probably damaging Het
Slc10a2 A G 8: 5,141,652 (GRCm39) L244P probably damaging Het
Tardbp A G 4: 148,706,521 (GRCm39) V96A probably benign Het
Tbc1d4 C A 14: 101,727,300 (GRCm39) E504* probably null Het
Tmed3 T C 9: 89,584,928 (GRCm39) E109G probably benign Het
Tnc C T 4: 63,924,656 (GRCm39) R1014H probably benign Het
Tpcn2 C T 7: 144,821,115 (GRCm39) R313Q probably damaging Het
Trim45 A G 3: 100,835,381 (GRCm39) T455A probably benign Het
Txlna A G 4: 129,525,908 (GRCm39) I313T probably damaging Het
Vmn1r202 A T 13: 22,686,159 (GRCm39) I86K possibly damaging Het
Vmn2r14 C A 5: 109,364,180 (GRCm39) E579* probably null Het
Wrn T A 8: 33,819,200 (GRCm39) I8F possibly damaging Het
Zc3h18 A G 8: 123,143,396 (GRCm39) probably benign Het
Zfyve26 A T 12: 79,323,117 (GRCm39) H876Q probably benign Het
Znrf2 C T 6: 54,840,957 (GRCm39) T177I probably damaging Het
Other mutations in Or5p4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01570:Or5p4 APN 7 107,680,480 (GRCm39) missense probably benign 0.38
IGL02619:Or5p4 APN 7 107,680,949 (GRCm39) utr 3 prime probably benign
IGL03175:Or5p4 APN 7 107,680,925 (GRCm39) missense probably benign
R0401:Or5p4 UTSW 7 107,680,079 (GRCm39) missense possibly damaging 0.81
R0932:Or5p4 UTSW 7 107,680,727 (GRCm39) missense probably damaging 1.00
R1679:Or5p4 UTSW 7 107,680,859 (GRCm39) missense probably damaging 1.00
R2189:Or5p4 UTSW 7 107,680,243 (GRCm39) missense possibly damaging 0.47
R3804:Or5p4 UTSW 7 107,680,378 (GRCm39) missense probably damaging 1.00
R4532:Or5p4 UTSW 7 107,680,756 (GRCm39) missense probably benign 0.18
R4932:Or5p4 UTSW 7 107,680,781 (GRCm39) missense probably damaging 0.99
R5630:Or5p4 UTSW 7 107,680,323 (GRCm39) missense probably benign 0.05
R6155:Or5p4 UTSW 7 107,680,493 (GRCm39) missense probably benign 0.00
R6523:Or5p4 UTSW 7 107,680,762 (GRCm39) missense probably benign 0.34
R6987:Or5p4 UTSW 7 107,680,338 (GRCm39) nonsense probably null
R7378:Or5p4 UTSW 7 107,680,399 (GRCm39) missense not run
R7609:Or5p4 UTSW 7 107,680,753 (GRCm39) missense probably damaging 0.99
R8293:Or5p4 UTSW 7 107,680,269 (GRCm39) missense probably benign 0.00
R9322:Or5p4 UTSW 7 107,680,727 (GRCm39) missense probably damaging 1.00
R9449:Or5p4 UTSW 7 107,680,040 (GRCm39) missense
R9659:Or5p4 UTSW 7 107,680,745 (GRCm39) missense probably damaging 1.00
R9788:Or5p4 UTSW 7 107,680,745 (GRCm39) missense probably damaging 1.00
V8831:Or5p4 UTSW 7 107,680,742 (GRCm39) missense probably benign 0.24
Z1177:Or5p4 UTSW 7 107,680,279 (GRCm39) missense probably benign 0.03
Posted On 2013-11-18