Incidental Mutation 'R0082:Or4k5'
ID 19736
Institutional Source Beutler Lab
Gene Symbol Or4k5
Ensembl Gene ENSMUSG00000049011
Gene Name olfactory receptor family 4 subfamily K member 5
Synonyms MOR246-6, GA_x6K02T2PMLR-5839874-5838903, Olfr729
MMRRC Submission 038369-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.110) question?
Stock # R0082 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 50385358-50386329 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50385512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 273 (I273K)
Ref Sequence ENSEMBL: ENSMUSP00000149189 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061020] [ENSMUST00000213163] [ENSMUST00000215327] [ENSMUST00000215451]
AlphaFold Q8VET4
Predicted Effect probably damaging
Transcript: ENSMUST00000061020
AA Change: I273K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000051755
Gene: ENSMUSG00000049011
AA Change: I273K

DomainStartEndE-ValueType
Pfam:7tm_4 31 304 8.3e-46 PFAM
Pfam:7TM_GPCR_Srsx 35 286 1.4e-5 PFAM
Pfam:7tm_1 41 287 2.4e-18 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213163
AA Change: I273K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215327
AA Change: I273K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000215451
AA Change: I273K

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.2558 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.3%
  • 10x: 91.7%
  • 20x: 73.7%
Validation Efficiency 94% (136/144)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 A C 12: 21,379,049 (GRCm39) probably benign Het
Adcy1 T C 11: 7,099,497 (GRCm39) probably benign Het
Ahrr G A 13: 74,431,143 (GRCm39) probably benign Het
Ankrd33b T C 15: 31,297,935 (GRCm39) N274S probably benign Het
Antkmt T C 17: 26,010,548 (GRCm39) I89V probably benign Het
Arhgef1 C T 7: 24,612,030 (GRCm39) Q100* probably null Het
Ccdc180 A G 4: 45,896,205 (GRCm39) D118G probably null Het
Cdh23 T C 10: 60,148,366 (GRCm39) D2667G probably damaging Het
Cdh4 A T 2: 179,535,981 (GRCm39) N844I possibly damaging Het
Cep57 T C 9: 13,722,172 (GRCm39) probably benign Het
Dnah7a A T 1: 53,557,867 (GRCm39) D2182E probably damaging Het
Dync1h1 A G 12: 110,602,880 (GRCm39) T2174A probably benign Het
Eef1akmt2 T A 7: 132,453,201 (GRCm39) R44* probably null Het
Evpl T A 11: 116,125,829 (GRCm39) I43F probably damaging Het
F13a1 G T 13: 37,172,927 (GRCm39) P151Q probably damaging Het
Galnt5 A T 2: 57,889,047 (GRCm39) I216F possibly damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gpr139 T A 7: 118,744,268 (GRCm39) T106S probably benign Het
Hoatz T C 9: 51,013,102 (GRCm39) T57A probably benign Het
Hoxb3 A G 11: 96,235,097 (GRCm39) D8G probably damaging Het
Hpse T C 5: 100,840,128 (GRCm39) K330E possibly damaging Het
Kcmf1 G T 6: 72,827,470 (GRCm39) probably null Het
Klra2 T C 6: 131,197,210 (GRCm39) N263S possibly damaging Het
Klra8 T C 6: 130,102,018 (GRCm39) D139G probably benign Het
Lrrc46 A C 11: 96,931,903 (GRCm39) probably benign Het
Ly86 A T 13: 37,602,513 (GRCm39) probably null Het
Mmp20 C T 9: 7,642,808 (GRCm39) T214M probably benign Het
Or52s1b G T 7: 102,822,409 (GRCm39) A145E probably benign Het
Or6c1b T C 10: 129,273,140 (GRCm39) I153T possibly damaging Het
Or6c209 G A 10: 129,483,522 (GRCm39) C175Y probably benign Het
Pigg A G 5: 108,460,751 (GRCm39) probably benign Het
Polq C A 16: 36,837,619 (GRCm39) T177K probably benign Het
Pomgnt2 A T 9: 121,811,326 (GRCm39) V485E probably damaging Het
Ppip5k2 A T 1: 97,687,057 (GRCm39) C49* probably null Het
Prkrip1 T C 5: 136,226,682 (GRCm39) N53D possibly damaging Het
Prrc2b T C 2: 32,102,310 (GRCm39) probably benign Het
Qprt T C 7: 126,707,358 (GRCm39) E246G probably damaging Het
Rpl9 A G 5: 65,545,995 (GRCm39) V167A probably benign Het
Rskr T C 11: 78,184,384 (GRCm39) S244P probably damaging Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sgsm1 T C 5: 113,436,702 (GRCm39) I43V probably benign Het
Slc38a7 A G 8: 96,567,109 (GRCm39) probably benign Het
Slc8b1 A G 5: 120,662,265 (GRCm39) probably benign Het
Sp2 T C 11: 96,852,525 (GRCm39) Y133C probably damaging Het
Spdye4b A T 5: 143,181,430 (GRCm39) D95V probably damaging Het
Srek1 T C 13: 103,880,194 (GRCm39) T455A unknown Het
Stox2 A T 8: 47,656,317 (GRCm39) probably benign Het
Synrg T A 11: 83,878,736 (GRCm39) probably benign Het
Tie1 T A 4: 118,341,550 (GRCm39) E254V probably damaging Het
Tmem97 G T 11: 78,433,414 (GRCm39) F160L probably damaging Het
Utp6 A T 11: 79,844,457 (GRCm39) H189Q possibly damaging Het
Vip T A 10: 5,594,953 (GRCm39) *172R probably null Het
Wdr91 T C 6: 34,883,620 (GRCm39) R132G possibly damaging Het
Wipi1 T C 11: 109,469,110 (GRCm39) probably benign Het
Zfp445 A G 9: 122,681,421 (GRCm39) V840A probably damaging Het
Other mutations in Or4k5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01802:Or4k5 APN 14 50,386,173 (GRCm39) missense probably benign 0.38
IGL02736:Or4k5 APN 14 50,385,881 (GRCm39) missense probably benign 0.01
IGL02798:Or4k5 APN 14 50,385,835 (GRCm39) missense probably benign
IGL03267:Or4k5 APN 14 50,386,304 (GRCm39) missense probably damaging 1.00
R0225:Or4k5 UTSW 14 50,386,092 (GRCm39) missense probably damaging 1.00
R0503:Or4k5 UTSW 14 50,385,935 (GRCm39) missense probably damaging 1.00
R1022:Or4k5 UTSW 14 50,385,384 (GRCm39) missense probably benign
R1024:Or4k5 UTSW 14 50,385,384 (GRCm39) missense probably benign
R1424:Or4k5 UTSW 14 50,385,922 (GRCm39) missense possibly damaging 0.83
R1440:Or4k5 UTSW 14 50,385,815 (GRCm39) missense probably damaging 1.00
R1479:Or4k5 UTSW 14 50,386,245 (GRCm39) missense probably benign 0.00
R1583:Or4k5 UTSW 14 50,386,231 (GRCm39) missense probably benign 0.00
R1817:Or4k5 UTSW 14 50,385,728 (GRCm39) missense probably benign 0.00
R2155:Or4k5 UTSW 14 50,386,154 (GRCm39) missense probably damaging 1.00
R2282:Or4k5 UTSW 14 50,385,776 (GRCm39) missense probably benign
R2926:Or4k5 UTSW 14 50,385,893 (GRCm39) missense probably benign 0.19
R3790:Or4k5 UTSW 14 50,386,026 (GRCm39) missense possibly damaging 0.51
R4073:Or4k5 UTSW 14 50,385,500 (GRCm39) missense possibly damaging 0.55
R5945:Or4k5 UTSW 14 50,386,220 (GRCm39) missense probably benign
R6714:Or4k5 UTSW 14 50,385,671 (GRCm39) missense possibly damaging 0.95
R7112:Or4k5 UTSW 14 50,385,392 (GRCm39) missense probably benign 0.00
R7157:Or4k5 UTSW 14 50,385,689 (GRCm39) missense probably damaging 1.00
R7511:Or4k5 UTSW 14 50,385,713 (GRCm39) missense probably damaging 1.00
R7815:Or4k5 UTSW 14 50,386,253 (GRCm39) missense probably benign 0.36
R8833:Or4k5 UTSW 14 50,385,823 (GRCm39) nonsense probably null
R9486:Or4k5 UTSW 14 50,385,672 (GRCm39) missense probably benign 0.21
R9608:Or4k5 UTSW 14 50,386,055 (GRCm39) missense probably benign 0.35
Z1177:Or4k5 UTSW 14 50,386,308 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGCAATTAGTGCATACATACCACTCTG -3'
(R):5'- TCACAGTTTGGTTCAAGTCCTCTGC -3'

Sequencing Primer
(F):5'- CGGGGAGGATACTAAATTTTTGC -3'
(R):5'- TCTACACTGGCTGCTCACAT -3'
Posted On 2013-04-11