Incidental Mutation 'R1679:Or5p4'
ID 188348
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 039715-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R1679 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 107680003-107680941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 107680859 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 286 (N286I)
Ref Sequence ENSEMBL: ENSMUSP00000151152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067143] [ENSMUST00000213601]
AlphaFold Q8VGI5
Predicted Effect probably damaging
Transcript: ENSMUST00000067143
AA Change: N286I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063555
Gene: ENSMUSG00000054236
AA Change: N286I

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 damaging
Transcript: ENSMUST00000213601
AA Change: N286I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (51/52)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
Adam6a A G 12: 113,508,376 (GRCm39) M250V probably benign Het
Adgre5 C A 8: 84,456,034 (GRCm39) R254L probably benign Het
Adgrv1 A T 13: 81,707,671 (GRCm39) L525Q probably damaging Het
Ano9 T A 7: 140,688,210 (GRCm39) I205F probably benign Het
Bmp5 T C 9: 75,746,877 (GRCm39) V245A probably benign Het
Capn8 T C 1: 182,441,032 (GRCm39) S489P probably damaging Het
Ccdc85a A G 11: 28,533,316 (GRCm39) L76P probably damaging Het
Cd164l2 A G 4: 132,948,810 (GRCm39) T49A probably benign Het
Cdc25c T C 18: 34,880,348 (GRCm39) T129A probably damaging Het
Cfap43 T C 19: 47,761,553 (GRCm39) D847G probably benign Het
Crim1 G A 17: 78,508,228 (GRCm39) A11T probably benign Het
Cul9 A T 17: 46,832,082 (GRCm39) L1449H possibly damaging Het
Cyp2a22 T A 7: 26,635,736 (GRCm39) K276* probably null Het
Cyp2c50 C A 19: 40,099,859 (GRCm39) T430K possibly damaging Het
Ddb2 C T 2: 91,064,595 (GRCm39) R105Q probably benign Het
Emilin1 T C 5: 31,077,543 (GRCm39) Y900H probably benign Het
Eml3 T C 19: 8,914,001 (GRCm39) F100L probably damaging Het
Eps8l2 G A 7: 140,940,970 (GRCm39) G542D probably damaging Het
Fbf1 A G 11: 116,041,843 (GRCm39) probably null Het
Gm21886 T C 18: 80,132,954 (GRCm39) Y68C probably damaging Het
H2-Q10 A G 17: 35,784,492 (GRCm39) probably benign Het
Hebp2 G T 10: 18,420,163 (GRCm39) T90K possibly damaging Het
Il1rl2 A G 1: 40,382,320 (GRCm39) T211A probably benign Het
Incenp T C 19: 9,872,778 (GRCm39) D16G unknown Het
Isg20l2 T A 3: 87,839,392 (GRCm39) M201K probably damaging Het
Kansl1 A T 11: 104,314,822 (GRCm39) S405R probably damaging Het
Kdsr T A 1: 106,680,956 (GRCm39) I81F probably benign Het
Leprotl1 T G 8: 34,607,986 (GRCm39) L7F probably damaging Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Mtmr2 T A 9: 13,700,373 (GRCm39) I60K probably damaging Het
Mto1 A G 9: 78,372,245 (GRCm39) T572A probably benign Het
Nipbl G A 15: 8,332,396 (GRCm39) T2287I probably benign Het
Nutm2 A G 13: 50,623,422 (GRCm39) T40A probably benign Het
Nxf1 T C 19: 8,746,438 (GRCm39) S550P probably benign Het
Phactr1 G A 13: 43,210,756 (GRCm39) V193I possibly damaging Het
Phactr1 A T 13: 43,248,257 (GRCm39) Y317F possibly damaging Het
Pih1d1 T C 7: 44,809,250 (GRCm39) probably null Het
Rictor T C 15: 6,797,571 (GRCm39) I309T possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Ruvbl2 T C 7: 45,074,391 (GRCm39) D216G probably damaging Het
Slc20a2 T G 8: 23,028,846 (GRCm39) S106A possibly damaging Het
Srprb A G 9: 103,069,406 (GRCm39) probably benign Het
Stx11 A T 10: 12,817,580 (GRCm39) I48N probably damaging Het
Vmn1r29 A T 6: 58,285,003 (GRCm39) Y241F probably damaging Het
Wdfy1 A T 1: 79,685,192 (GRCm39) C347* probably null Het
Zfp683 T C 4: 133,785,956 (GRCm39) V361A possibly 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
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
Predicted Primers PCR Primer
(F):5'- GTGAACCTAAACTTCTGTGGCCCC -3'
(R):5'- GACCACAAGAGAGCTTCCCAAGTG -3'

Sequencing Primer
(F):5'- AATCCTAAGGATGCGCTCTG -3'
(R):5'- ACCAATGTGTTCTCGCCA -3'
Posted On 2014-05-09