Incidental Mutation 'R5630:Or5p4'
ID 442055
Institutional Source Beutler Lab
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
MMRRC Submission 043281-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5630 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 107680003-107680941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 107680323 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 107 (F107L)
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: F107L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000063555
Gene: ENSMUSG00000054236
AA Change: F107L

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: F107L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3s2 A T 7: 79,559,647 (GRCm39) V94E probably damaging Het
Aven T A 2: 112,344,890 (GRCm39) Y109* probably null Het
Cad T C 5: 31,217,917 (GRCm39) S401P probably damaging Het
Ccdc122 A T 14: 77,330,216 (GRCm39) I189F probably damaging Het
Cdkal1 A T 13: 29,961,198 (GRCm39) probably null Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cnih4 C G 1: 180,989,748 (GRCm39) F120L probably benign Het
Cntnap5b A G 1: 99,999,794 (GRCm39) D184G probably damaging Het
Cpa2 T A 6: 30,550,731 (GRCm39) probably null Het
Cpne5 T C 17: 29,445,190 (GRCm39) D38G probably damaging Het
Dst GGAATCGTGCACTCGAA GGAA 1: 34,227,866 (GRCm39) probably null Het
E330034G19Rik A G 14: 24,358,336 (GRCm39) probably benign Het
Flrt1 A T 19: 7,073,830 (GRCm39) I239N probably damaging Het
Foxb1 T A 9: 69,667,402 (GRCm39) I43F probably damaging Het
Kcnq3 A G 15: 65,896,971 (GRCm39) W310R probably damaging Het
Klrb1a A T 6: 128,595,573 (GRCm39) D60E probably benign Het
Lbr A G 1: 181,644,529 (GRCm39) probably null Het
Lsm8 T A 6: 18,851,672 (GRCm39) I41N probably damaging Het
Mroh7 T C 4: 106,577,764 (GRCm39) M305V possibly damaging Het
Npdc1 G A 2: 25,298,957 (GRCm39) D284N probably damaging Het
Or8c10 T C 9: 38,279,402 (GRCm39) Y177H probably damaging Het
Or8g20 T A 9: 39,396,247 (GRCm39) M98L probably benign Het
Pcdhb5 A T 18: 37,454,208 (GRCm39) D196V possibly damaging Het
Pcmt1 A G 10: 7,524,857 (GRCm39) Y84H probably damaging Het
Pcnx2 A T 8: 126,587,697 (GRCm39) I877K probably damaging Het
Pcsk5 A G 19: 17,553,195 (GRCm39) Y662H probably benign Het
Prdx1 T A 4: 116,556,414 (GRCm39) D187E probably benign Het
Ranbp2 T G 10: 58,314,898 (GRCm39) Y1873D probably damaging Het
Rcor2 A T 19: 7,248,416 (GRCm39) R144W probably damaging Het
Rptor T G 11: 119,647,075 (GRCm39) I222S probably benign Het
Rrp8 C A 7: 105,382,608 (GRCm39) R448L possibly damaging Het
Ryr2 A T 13: 11,616,691 (GRCm39) I3909N probably damaging Het
Scn2a T G 2: 65,556,709 (GRCm39) V1147G probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Smox C T 2: 131,366,786 (GRCm39) Q582* probably null Het
Sqor T A 2: 122,651,277 (GRCm39) L180H possibly damaging Het
Stox2 T C 8: 47,644,925 (GRCm39) D845G probably damaging Het
Szt2 T C 4: 118,250,102 (GRCm39) I469V possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tox C CTGGAGT 4: 6,688,835 (GRCm39) probably benign Het
Trgc2 A G 13: 19,489,279 (GRCm39) F151S possibly damaging Het
Upf2 T C 2: 6,032,112 (GRCm39) V141A probably damaging Het
Usp54 A G 14: 20,615,125 (GRCm39) L772P probably damaging Het
Vmn2r83 A T 10: 79,327,785 (GRCm39) T798S possibly damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Zfp143 C T 7: 109,687,980 (GRCm39) T473I probably damaging Het
Other mutations in Or5p4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01472:Or5p4 APN 7 107,680,411 (GRCm39) missense probably benign 0.18
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
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
Predicted Primers PCR Primer
(F):5'- TAGTGACTGTAGTGGGAAATATCAG -3'
(R):5'- CTTTGTTGGGGCCACAGAAG -3'

Sequencing Primer
(F):5'- TCCTAATTCGGAGCAGCCC -3'
(R):5'- GCCACAGAAGTTTAGGTTCAC -3'
Posted On 2016-11-08