Incidental Mutation 'R4864:Or4k2'
ID 374776
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 042474-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R4864 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 50423719-50424675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50424039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 212 (I212F)
Ref Sequence ENSEMBL: ENSMUSP00000145742 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051453] [ENSMUST00000205837]
AlphaFold E9Q8M3
Predicted Effect probably damaging
Transcript: ENSMUST00000051453
AA Change: I213F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000060325
Gene: ENSMUSG00000109835
AA Change: I213F

DomainStartEndE-ValueType
Pfam:7tm_4 32 305 3.4e-44 PFAM
Pfam:7tm_1 42 288 1.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000205837
AA Change: I212F

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215779
Meta Mutation Damage Score 0.1336 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 99% (93/94)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Acp6 T C 3: 97,066,683 (GRCm39) probably null Het
Adora3 T A 3: 105,815,131 (GRCm39) Y148N probably damaging Het
Ahnak2 G A 12: 112,740,040 (GRCm39) S538L probably damaging Het
Aox3 T G 1: 58,215,646 (GRCm39) V1026G probably damaging Het
Ap3d1 TTCTCTCTCTCTCTCTCT TTCTCTCTCTCTCTCT 10: 80,548,612 (GRCm39) probably null Het
Arhgef37 G A 18: 61,627,996 (GRCm39) A649V probably benign Het
Atp5f1a G A 18: 77,869,015 (GRCm39) R413H possibly damaging Het
Bace1 A T 9: 45,766,109 (GRCm39) I179F probably damaging Het
Brinp1 A G 4: 68,717,123 (GRCm39) F242L probably damaging Het
Brk1 T C 6: 113,592,805 (GRCm39) Y63H possibly damaging Het
Ccdc74a A G 16: 17,466,736 (GRCm39) T148A probably benign Het
Cenpc1 T A 5: 86,193,180 (GRCm39) L236F probably damaging Het
Col13a1 C T 10: 61,698,439 (GRCm39) E541K unknown Het
Copg1 T A 6: 87,866,678 (GRCm39) C44S probably damaging Het
D130043K22Rik A G 13: 25,047,595 (GRCm39) E380G probably damaging Het
Dchs1 T C 7: 105,404,460 (GRCm39) D2694G probably damaging Het
Dgkd A T 1: 87,844,560 (GRCm39) N242I possibly damaging Het
Dnah2 C T 11: 69,313,416 (GRCm39) V4248I probably damaging Het
Dpy19l3 T A 7: 35,411,607 (GRCm39) K376* probably null Het
Eef1d A G 15: 75,775,255 (GRCm39) S135P possibly damaging Het
Epc2 T A 2: 49,427,177 (GRCm39) S574T probably benign Het
Eps15 G A 4: 109,223,727 (GRCm39) probably benign Het
Eps8 T C 6: 137,455,967 (GRCm39) probably benign Het
Exoc5 A T 14: 49,289,839 (GRCm39) V13E probably benign Het
Fbn1 A T 2: 125,214,317 (GRCm39) C765S possibly damaging Het
Fbxo5 A T 10: 5,752,392 (GRCm39) C74S probably benign Het
Fbxw9 T C 8: 85,792,530 (GRCm39) S322P probably damaging Het
Fmo5 T A 3: 97,553,195 (GRCm39) I381N probably damaging Het
Fmo6 T C 1: 162,751,964 (GRCm39) D175G probably benign Het
Gm7361 A G 5: 26,467,008 (GRCm39) probably null Het
Gm9961 G A 16: 11,720,899 (GRCm39) probably benign Het
Golga7b T A 19: 42,255,405 (GRCm39) probably null Het
Gorab T C 1: 163,213,967 (GRCm39) E321G probably benign Het
Gpx1 T A 9: 108,216,594 (GRCm39) V28E probably benign Het
H2-T15 T A 17: 36,369,253 (GRCm39) probably benign Het
H3c14 T C 3: 96,154,575 (GRCm39) I125T probably damaging Het
Hk1 T C 10: 62,178,318 (GRCm39) S8G probably benign Het
Iqsec1 C T 6: 90,641,038 (GRCm39) R1026H probably damaging Het
Kdm4b A T 17: 56,660,091 (GRCm39) Y86F probably benign Het
Kprp C T 3: 92,731,829 (GRCm39) R407Q unknown Het
Lamb1 C T 12: 31,371,005 (GRCm39) T1400M probably benign Het
Lcor G T 19: 41,573,803 (GRCm39) A853S probably benign Het
Lrriq3 T A 3: 154,893,447 (GRCm39) Y383N possibly damaging Het
Map3k21 T C 8: 126,654,294 (GRCm39) I371T probably benign Het
Mllt1 A T 17: 57,212,819 (GRCm39) F105I probably damaging Het
Nfatc2 A G 2: 168,378,312 (GRCm39) M451T probably damaging Het
Nfkbiz A C 16: 55,638,787 (GRCm39) N224K probably damaging Het
Nlrp4d A G 7: 10,115,088 (GRCm39) V531A noncoding transcript Het
Noc3l A G 19: 38,778,081 (GRCm39) Y778H probably benign Het
Nup98 C A 7: 101,802,403 (GRCm39) A734S possibly damaging Het
Or2ag18 T C 7: 106,405,171 (GRCm39) Y166C probably damaging Het
Or9g20 A G 2: 85,630,033 (GRCm39) Y194H probably damaging Het
Or9r7 T A 10: 129,962,756 (GRCm39) R57* probably null Het
Pate4 A T 9: 35,519,535 (GRCm39) C52S probably damaging Het
Pecr C A 1: 72,316,490 (GRCm39) A72S probably benign Het
Pomt1 A G 2: 32,142,004 (GRCm39) N578S probably benign Het
Ppm1a T C 12: 72,830,738 (GRCm39) S88P probably benign Het
Ppm1l T A 3: 69,449,844 (GRCm39) probably benign Het
Prdm13 A G 4: 21,685,543 (GRCm39) S86P unknown Het
Prph2 T C 17: 47,221,848 (GRCm39) S76P probably benign Het
Sarnp G A 10: 128,669,212 (GRCm39) R23H probably damaging Het
Septin1 T C 7: 126,816,064 (GRCm39) probably benign Het
Serpini1 T C 3: 75,520,481 (GRCm39) I26T probably benign Het
Setdb2 A G 14: 59,646,715 (GRCm39) I616T probably benign Het
Slc2a10 T C 2: 165,356,541 (GRCm39) F67S probably benign Het
Slc38a6 T A 12: 73,390,424 (GRCm39) probably null Het
Smg6 T C 11: 74,820,988 (GRCm39) S420P possibly damaging Het
Srp72 T A 5: 77,132,009 (GRCm39) H229Q probably benign Het
Ston2 A G 12: 91,615,448 (GRCm39) V320A possibly damaging Het
Stx3 A T 19: 11,754,515 (GRCm39) I269N possibly damaging Het
Tdg-ps A G 15: 82,400,843 (GRCm39) noncoding transcript Het
Tecpr1 T A 5: 144,150,935 (GRCm39) N291I probably benign Het
Tmem177 A G 1: 119,838,553 (GRCm39) V42A probably benign Het
Trim26 T A 17: 37,168,886 (GRCm39) probably benign Het
Ttc17 A G 2: 94,196,980 (GRCm39) S456P probably benign Het
Tubgcp6 T C 15: 88,988,021 (GRCm39) Y984C probably benign Het
Unc5cl A G 17: 48,766,872 (GRCm39) E82G possibly damaging Het
Uncx T C 5: 139,529,875 (GRCm39) S43P probably damaging Het
Vmn1r1 A G 1: 181,985,332 (GRCm39) V111A probably benign Het
Vmn1r168 A G 7: 23,240,907 (GRCm39) I255V probably damaging Het
Vwce A G 19: 10,628,000 (GRCm39) T487A probably benign Het
Xaf1 A G 11: 72,197,682 (GRCm39) probably benign Het
Zfp27 G T 7: 29,594,261 (GRCm39) P568Q probably damaging Het
Zfp382 A T 7: 29,832,885 (GRCm39) I179F possibly damaging 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
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
R5779:Or4k2 UTSW 14 50,424,203 (GRCm39) missense possibly damaging 0.82
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'- ATCACTGGGTTCATAATGGGAG -3'
(R):5'- ACCATGCATTCAATGAGTCAGGTC -3'

Sequencing Primer
(F):5'- AGACAGTATCTTTTCTATCACAAAGC -3'
(R):5'- CAATGAGTCAGGTCATATTTGCCC -3'
Posted On 2016-03-17