Incidental Mutation 'R5779:Or4k2'
ID 446893
Institutional Source Beutler Lab
Gene Symbol Or4k2
Ensembl Gene ENSMUSG00000109835
Gene Name olfactory receptor family 4 subfamily K member 2
Synonyms MOR247-1, Olfr730, GA_x6K02T2PMLR-5881670-5880717
MMRRC Submission 043377-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R5779 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 50423719-50424675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50424203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 157 (M157K)
Ref Sequence ENSEMBL: ENSMUSP00000145742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051453] [ENSMUST00000205837]
AlphaFold E9Q8M3
Predicted Effect possibly damaging
Transcript: ENSMUST00000051453
AA Change: M158K

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060325
Gene: ENSMUSG00000109835
AA Change: M158K

DomainStartEndE-ValueType
Pfam:7tm_4 32 305 3.4e-44 PFAM
Pfam:7tm_1 42 288 1.2e-17 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000205837
AA Change: M157K

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215779
Meta Mutation Damage Score 0.1688 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 88% (52/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 T C 11: 110,075,496 (GRCm39) M1332V probably benign Het
Acsbg3 A T 17: 57,188,061 (GRCm39) N190Y probably benign Het
Afg3l2 T C 18: 67,573,513 (GRCm39) K132R probably null Het
Antkmt A G 17: 26,009,631 (GRCm39) V194A probably benign Het
Arap3 T C 18: 38,117,418 (GRCm39) D886G probably damaging Het
B3gntl1 G T 11: 121,542,502 (GRCm39) probably null Het
Cdk12 T A 11: 98,109,900 (GRCm39) S640R probably benign Het
Ceacam12 C A 7: 17,803,079 (GRCm39) P162T probably benign Het
Chrna5 C A 9: 54,905,388 (GRCm39) H67N probably benign Het
Copb1 T A 7: 113,818,807 (GRCm39) D837V probably damaging Het
Dcaf5 C T 12: 80,385,606 (GRCm39) R840H probably benign Het
Ect2l T A 10: 18,039,186 (GRCm39) Q324L probably benign Het
Eef1e1 T C 13: 38,830,249 (GRCm39) N141S probably damaging Het
Eif2ak4 A C 2: 118,243,444 (GRCm39) N208T possibly damaging Het
Ext1 A G 15: 53,207,949 (GRCm39) Y271H probably damaging Het
Fbxo5 G A 10: 5,750,303 (GRCm39) R323C possibly damaging Het
Fpr-rs3 C A 17: 20,844,488 (GRCm39) A218S possibly damaging Het
Gm20499 G A 5: 114,955,082 (GRCm39) probably benign Het
Gm57859 A G 11: 113,578,818 (GRCm39) D71G probably benign Het
Gucy1b2 C A 14: 62,651,750 (GRCm39) L400F possibly damaging Het
Hgd T A 16: 37,413,733 (GRCm39) L24H probably benign Het
Hmx3 C A 7: 131,146,057 (GRCm39) S255* probably null Het
Ifrd1 A T 12: 40,253,369 (GRCm39) F448I probably damaging Het
Igfn1 T A 1: 135,894,578 (GRCm39) E1996V probably benign Het
Itpr1 G A 6: 108,329,104 (GRCm39) G173R probably damaging Het
Kbtbd8 T C 6: 95,095,515 (GRCm39) S26P probably benign Het
Kctd17 A T 15: 78,321,333 (GRCm39) probably benign Het
Matr3 T C 18: 35,717,575 (GRCm39) S258P possibly damaging Het
Mpp4 G A 1: 59,190,825 (GRCm39) A90V probably benign Het
Mrpl20 G A 4: 155,891,378 (GRCm39) R34Q probably damaging Het
Neb A T 2: 52,135,313 (GRCm39) S3266T probably damaging Het
Nipal3 A G 4: 135,179,650 (GRCm39) probably benign Het
Npas2 A T 1: 39,326,652 (GRCm39) T46S possibly damaging Het
Nsd3 G T 8: 26,172,685 (GRCm39) E815* probably null Het
Nup98 C A 7: 101,801,568 (GRCm39) V786L probably benign Het
Pcdhb3 T C 18: 37,434,520 (GRCm39) V162A probably benign Het
Pcgf2 G A 11: 97,581,117 (GRCm39) P58L probably damaging Het
Penk A G 4: 4,134,318 (GRCm39) F110L probably damaging Het
Relch T G 1: 105,615,072 (GRCm39) N246K probably damaging Het
Scfd1 A G 12: 51,478,312 (GRCm39) N508S probably benign Het
Scn2a T C 2: 65,594,827 (GRCm39) V1892A probably benign Het
Sema6a G A 18: 47,381,893 (GRCm39) R885C probably damaging Het
Sik2 T C 9: 50,807,145 (GRCm39) H755R probably benign Het
Slc36a3 A T 11: 55,026,094 (GRCm39) Y241* probably null Het
Smg5 T C 3: 88,258,925 (GRCm39) probably benign Het
Spag9 A G 11: 94,005,079 (GRCm39) T1049A probably benign Het
Tas2r103 T C 6: 133,013,908 (GRCm39) M53V probably benign Het
Tpr C T 1: 150,299,292 (GRCm39) A1090V probably damaging Het
Traf5 T A 1: 191,729,633 (GRCm39) R473W probably damaging Het
Ush2a T C 1: 188,175,707 (GRCm39) probably null Het
Vit A G 17: 78,853,855 (GRCm39) T34A probably benign Het
Other mutations in Or4k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01998:Or4k2 APN 14 50,424,105 (GRCm39) missense probably benign 0.36
IGL02976:Or4k2 APN 14 50,423,889 (GRCm39) nonsense probably null
IGL03065:Or4k2 APN 14 50,424,465 (GRCm39) missense probably damaging 1.00
IGL03122:Or4k2 APN 14 50,424,461 (GRCm39) missense probably damaging 0.98
R0277:Or4k2 UTSW 14 50,423,789 (GRCm39) missense probably null 0.06
R1081:Or4k2 UTSW 14 50,424,654 (GRCm39) missense probably damaging 1.00
R1189:Or4k2 UTSW 14 50,424,539 (GRCm39) missense probably damaging 0.99
R1501:Or4k2 UTSW 14 50,424,539 (GRCm39) missense probably damaging 0.99
R2680:Or4k2 UTSW 14 50,424,304 (GRCm39) nonsense probably null
R2869:Or4k2 UTSW 14 50,423,811 (GRCm39) missense probably benign 0.08
R2869:Or4k2 UTSW 14 50,423,811 (GRCm39) missense probably benign 0.08
R3415:Or4k2 UTSW 14 50,424,069 (GRCm39) missense possibly damaging 0.60
R3417:Or4k2 UTSW 14 50,424,069 (GRCm39) missense possibly damaging 0.60
R3721:Or4k2 UTSW 14 50,424,137 (GRCm39) missense probably damaging 1.00
R4864:Or4k2 UTSW 14 50,424,039 (GRCm39) missense probably damaging 0.97
R5037:Or4k2 UTSW 14 50,423,745 (GRCm39) missense probably benign 0.00
R5349:Or4k2 UTSW 14 50,424,230 (GRCm39) nonsense probably null
R5738:Or4k2 UTSW 14 50,424,105 (GRCm39) missense probably benign 0.09
R5853:Or4k2 UTSW 14 50,424,326 (GRCm39) missense possibly damaging 0.88
R5918:Or4k2 UTSW 14 50,424,425 (GRCm39) missense probably benign
R6166:Or4k2 UTSW 14 50,424,225 (GRCm39) missense probably benign
R6196:Or4k2 UTSW 14 50,424,135 (GRCm39) missense probably damaging 1.00
R6218:Or4k2 UTSW 14 50,424,135 (GRCm39) missense probably damaging 1.00
R6220:Or4k2 UTSW 14 50,424,135 (GRCm39) missense probably damaging 1.00
R6561:Or4k2 UTSW 14 50,423,775 (GRCm39) missense probably damaging 1.00
R6798:Or4k2 UTSW 14 50,424,584 (GRCm39) missense probably benign 0.00
R6834:Or4k2 UTSW 14 50,423,940 (GRCm39) missense probably benign 0.12
R7174:Or4k2 UTSW 14 50,424,153 (GRCm39) missense probably benign 0.00
R7406:Or4k2 UTSW 14 50,424,015 (GRCm39) missense probably damaging 0.97
R7592:Or4k2 UTSW 14 50,424,020 (GRCm39) missense probably damaging 1.00
R7886:Or4k2 UTSW 14 50,424,021 (GRCm39) missense probably damaging 1.00
R8081:Or4k2 UTSW 14 50,423,825 (GRCm39) missense probably damaging 1.00
R8280:Or4k2 UTSW 14 50,423,723 (GRCm39) nonsense probably null
R8393:Or4k2 UTSW 14 50,424,342 (GRCm39) nonsense probably null
R8526:Or4k2 UTSW 14 50,423,719 (GRCm39) splice site probably null
R8683:Or4k2 UTSW 14 50,424,203 (GRCm39) missense possibly damaging 0.82
R8936:Or4k2 UTSW 14 50,423,999 (GRCm39) missense possibly damaging 0.82
R9285:Or4k2 UTSW 14 50,424,122 (GRCm39) missense probably benign 0.40
X0023:Or4k2 UTSW 14 50,424,658 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTGCTTGATAGTAACCAGC -3'
(R):5'- GATGGATGCATTGCTCAGATATTC -3'

Sequencing Primer
(F):5'- GCTTGATAGTAACCAGCACAATAATG -3'
(R):5'- GATGCATTGCTCAGATATTCTTTCTC -3'
Posted On 2016-12-15