Incidental Mutation 'R6218:Or4k2'
ID 503865
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.191) question?
Stock # R6218 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 50423719-50424675 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 50424135 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 180 (D180Y)
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: D181Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000060325
Gene: ENSMUSG00000109835
AA Change: D181Y

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: D180Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215779
Meta Mutation Damage Score 0.4507 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,728,730 (GRCm39) Q38K probably benign Het
9930111J21Rik2 A T 11: 48,910,134 (GRCm39) N766K probably benign Het
Adam15 A C 3: 89,251,190 (GRCm39) I505S probably benign Het
Apc2 T C 10: 80,142,254 (GRCm39) M391T probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Bclaf1 A G 10: 20,210,374 (GRCm39) S840G probably benign Het
Cacna2d4 A G 6: 119,216,021 (GRCm39) Y96C probably damaging Het
Cald1 CAAAA CAAA 6: 34,724,863 (GRCm39) probably null Het
Ddhd1 A G 14: 45,851,633 (GRCm39) L141P probably damaging Het
Dnaaf3 A T 7: 4,526,671 (GRCm39) S469T probably benign Het
Dzip3 A T 16: 48,778,828 (GRCm39) M323K possibly damaging Het
Eci2 T A 13: 35,177,048 (GRCm39) probably null Het
Fam227b A T 2: 125,968,882 (GRCm39) V64E probably damaging Het
Galnt2 A G 8: 125,070,054 (GRCm39) I524V probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm3443 T A 19: 21,533,110 (GRCm39) S25T probably damaging Het
Gpr22 T A 12: 31,761,616 (GRCm39) K14* probably null Het
Grip1 T C 10: 119,822,251 (GRCm39) S405P possibly damaging Het
Helz2 T C 2: 180,877,738 (GRCm39) H1020R probably damaging Het
Helz2 C A 2: 180,874,087 (GRCm39) V2136L probably benign Het
Il36rn G A 2: 24,167,502 (GRCm39) probably benign Het
Iqsec1 T A 6: 90,666,617 (GRCm39) S607C probably damaging Het
Irag1 G A 7: 110,476,112 (GRCm39) T819M probably benign Het
Klhl2 A T 8: 65,205,801 (GRCm39) Y373* probably null Het
L3mbtl3 T C 10: 26,168,645 (GRCm39) I595V unknown Het
Large2 T C 2: 92,200,981 (GRCm39) D65G probably damaging Het
Lrrfip1 T C 1: 91,009,881 (GRCm39) Y122H probably damaging Het
Map1b A T 13: 99,569,714 (GRCm39) D1002E unknown Het
Mink1 C T 11: 70,489,720 (GRCm39) T59I possibly damaging Het
Myo7b T C 18: 32,092,507 (GRCm39) N2097D probably benign Het
Nbea C A 3: 55,535,905 (GRCm39) C2893F probably damaging Het
Nlgn1 A T 3: 25,490,257 (GRCm39) V490E probably damaging Het
Or2w1b G A 13: 21,300,401 (GRCm39) E180K probably damaging Het
Or2y3 A G 17: 38,393,620 (GRCm39) M83T probably damaging Het
Or4c123 G T 2: 89,127,306 (GRCm39) H103N probably damaging Het
Or4f62 T C 2: 111,986,701 (GRCm39) I135T probably damaging Het
Pctp A G 11: 89,878,144 (GRCm39) I130T probably benign Het
Pdcl3 T C 1: 39,027,152 (GRCm39) probably null Het
Pheta2 T A 15: 82,227,917 (GRCm39) H145Q probably benign Het
Pira12 A T 7: 3,897,031 (GRCm39) S602T possibly damaging Het
Pkp1 T C 1: 135,807,646 (GRCm39) K541E probably damaging Het
Plekhh2 G A 17: 84,898,992 (GRCm39) V990I probably benign Het
Ppp1r3a A T 6: 14,718,430 (GRCm39) V828D probably damaging Het
Prrc2b T C 2: 32,098,823 (GRCm39) Y712H probably damaging Het
Prune2 T C 19: 17,098,926 (GRCm39) S1477P probably benign Het
Psma5 A G 3: 108,187,118 (GRCm39) K239R probably benign Het
Rhobtb1 G C 10: 69,106,286 (GRCm39) A284P probably benign Het
Samsn1 G A 16: 75,742,162 (GRCm39) noncoding transcript Het
Scel A G 14: 103,809,478 (GRCm39) T273A probably benign Het
Slc22a5 T A 11: 53,782,444 (GRCm39) probably benign Het
Slc25a37 A T 14: 69,486,953 (GRCm39) M110K possibly damaging Het
Slc6a2 A T 8: 93,708,609 (GRCm39) M242L probably benign Het
Slc8a3 C A 12: 81,246,341 (GRCm39) W904L probably benign Het
Ss18l1 G A 2: 179,696,905 (GRCm39) V109I probably benign Het
Tbx5 C T 5: 119,991,663 (GRCm39) H245Y probably damaging Het
Thumpd2 C A 17: 81,360,342 (GRCm39) L244F probably damaging Het
Tmem107 T A 11: 68,962,241 (GRCm39) V66E probably damaging Het
Tnr T C 1: 159,715,884 (GRCm39) V882A possibly damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttbk1 A G 17: 46,781,733 (GRCm39) V340A possibly damaging Het
Veph1 T C 3: 66,162,481 (GRCm39) E59G probably damaging Het
Vmn1r234 T A 17: 21,449,983 (GRCm39) M299K possibly damaging Het
Vps13b T C 15: 35,770,610 (GRCm39) Y2018H probably benign Het
Zbtb11 A G 16: 55,818,436 (GRCm39) E620G probably benign Het
Zfp418 A G 7: 7,185,627 (GRCm39) H530R possibly damaging Het
Zfp764l1 C T 7: 126,992,581 (GRCm39) A10T 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
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
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
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'- GGTTGAAAGAGCCTTAGATGATCC -3'
(R):5'- CCACCTGTTCACTGGTACTGAG -3'

Sequencing Primer
(F):5'- AGAGCCTTAGATGATCCTTTGGAAG -3'
(R):5'- TCTTTTGACAGGTATATTGCAATTTG -3'
Posted On 2018-02-27