Incidental Mutation 'R2351:Or6k2'
ID 246093
Institutional Source Beutler Lab
Gene Symbol Or6k2
Ensembl Gene ENSMUSG00000055033
Gene Name olfactory receptor family 6 subfamily K member 2
Synonyms GA_x6K02T2P20D-20995211-20994246, MOR105-10, Olfr420
MMRRC Submission 040333-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.127) question?
Stock # R2351 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 173986288-173987333 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 173986486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 49 (V49D)
Ref Sequence ENSEMBL: ENSMUSP00000149052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068403] [ENSMUST00000213748]
AlphaFold E9Q4G0
Predicted Effect probably damaging
Transcript: ENSMUST00000068403
AA Change: V49D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000069662
Gene: ENSMUSG00000055033
AA Change: V49D

DomainStartEndE-ValueType
Pfam:7tm_4 31 310 9.9e-60 PFAM
Pfam:7tm_1 41 292 4.1e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000213748
AA Change: V49D

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A T 1: 138,779,846 (GRCm39) Y135* probably null Het
Aadacl4fm1 A T 4: 144,255,348 (GRCm39) Y256F probably damaging Het
Acad10 A T 5: 121,767,990 (GRCm39) I820K probably benign Het
Arl8b A T 6: 108,798,484 (GRCm39) I178F possibly damaging Het
Asap1 A T 15: 64,007,653 (GRCm39) probably null Het
Atp2b2 A T 6: 113,766,718 (GRCm39) I552N possibly damaging Het
C130074G19Rik G T 1: 184,615,060 (GRCm39) D43E probably benign Het
Ccdc162 C A 10: 41,431,968 (GRCm39) probably null Het
Ccdc186 T G 19: 56,787,129 (GRCm39) K613T possibly damaging Het
Cggbp1 T A 16: 64,676,046 (GRCm39) D37E possibly damaging Het
Cntn3 A T 6: 102,314,344 (GRCm39) N123K possibly damaging Het
Col18a1 C T 10: 76,948,538 (GRCm39) G325S probably benign Het
Cwc25 G T 11: 97,638,218 (GRCm39) T405K probably damaging Het
Cyp4a31 T C 4: 115,428,510 (GRCm39) V370A possibly damaging Het
Cyp4f13 T G 17: 33,144,570 (GRCm39) I309L probably benign Het
Dap3 A T 3: 88,840,870 (GRCm39) probably null Het
Dchs1 G T 7: 105,403,301 (GRCm39) D3080E probably benign Het
Ern2 A G 7: 121,770,731 (GRCm39) V762A probably damaging Het
Fgr C T 4: 132,724,548 (GRCm39) R255C probably damaging Het
Gcm2 A T 13: 41,257,094 (GRCm39) D218E probably benign Het
Gfi1 A G 5: 107,869,640 (GRCm39) S131P probably damaging Het
Grm8 A T 6: 28,126,118 (GRCm39) C3S possibly damaging Het
Gucy2d A G 7: 98,113,226 (GRCm39) D840G probably benign Het
H3f3a T C 1: 180,637,723 (GRCm39) T81A probably benign Het
Igsf23 C T 7: 19,678,723 (GRCm39) W22* probably null Het
Il12rb2 G A 6: 67,338,928 (GRCm39) Q3* probably null Het
Ino80d A T 1: 63,124,994 (GRCm39) L156H probably benign Het
Kdm2a G A 19: 4,379,154 (GRCm39) P554S probably benign Het
Lefty1 T A 1: 180,764,807 (GRCm39) L244H possibly damaging Het
Mdn1 T A 4: 32,750,010 (GRCm39) S4398T probably benign Het
Myh10 A G 11: 68,683,965 (GRCm39) D1126G probably damaging Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myom1 A T 17: 71,341,574 (GRCm39) D111V probably damaging Het
Naip6 T A 13: 100,420,169 (GRCm39) D1367V probably damaging Het
Nbeal1 A T 1: 60,276,257 (GRCm39) H666L possibly damaging Het
Nsmaf T A 4: 6,437,921 (GRCm39) I77F probably damaging Het
Nvl T C 1: 180,958,357 (GRCm39) T231A probably benign Het
Obscn T C 11: 59,003,438 (GRCm39) R1287G probably damaging Het
Opn3 T C 1: 175,520,077 (GRCm39) D9G probably benign Het
Or4a81 T C 2: 89,619,522 (GRCm39) Y58C probably damaging Het
Or4c114 C T 2: 88,904,743 (GRCm39) G231S possibly damaging Het
Or6a2 A T 7: 106,600,883 (GRCm39) Y61* probably null Het
Or6c8b A G 10: 128,882,797 (GRCm39) V45A probably benign Het
Or8k24 C T 2: 86,216,471 (GRCm39) C97Y probably damaging Het
Parp10 A T 15: 76,127,056 (GRCm39) S101R probably benign Het
Pdhx T A 2: 102,854,562 (GRCm39) K399* probably null Het
Pdia4 A T 6: 47,773,848 (GRCm39) probably null Het
Pla2g4f T C 2: 120,130,923 (GRCm39) D844G probably benign Het
Prtg C A 9: 72,764,106 (GRCm39) D526E probably damaging Het
Rassf6 T C 5: 90,779,418 (GRCm39) D5G probably benign Het
Riok3 C T 18: 12,282,724 (GRCm39) Q388* probably null Het
Robo4 T A 9: 37,322,956 (GRCm39) F825L probably benign Het
Rpl13a-ps1 C T 19: 50,018,868 (GRCm39) E103K probably benign Het
Rpl18a A T 8: 71,348,864 (GRCm39) H37Q probably benign Het
Ryr1 A T 7: 28,774,718 (GRCm39) S2301T probably benign Het
Slc39a9 T A 12: 80,691,660 (GRCm39) D2E possibly damaging Het
Slco5a1 C T 1: 13,060,158 (GRCm39) V188I probably benign Het
Son T A 16: 91,454,547 (GRCm39) M1098K probably damaging Het
Spag9 A G 11: 93,983,726 (GRCm39) D701G probably damaging Het
Ssmem1 T C 6: 30,512,495 (GRCm39) F46S possibly damaging Het
Sspo C T 6: 48,441,803 (GRCm39) R1938W probably damaging Het
Sstr3 T C 15: 78,424,121 (GRCm39) I209V probably benign Het
Tlk2 A G 11: 105,100,656 (GRCm39) Y87C probably damaging Het
Traf4 G A 11: 78,051,002 (GRCm39) R385W probably damaging Het
Triobp G A 15: 78,888,780 (GRCm39) V1962M probably benign Het
Tspan12 T G 6: 21,835,506 (GRCm39) I56L probably benign Het
Upp2 T A 2: 58,653,674 (GRCm39) probably null Het
Vps13b T C 15: 35,869,457 (GRCm39) W2654R probably damaging Het
Zc3h18 C T 8: 123,129,926 (GRCm39) R435* probably null Het
Zfta T C 19: 7,399,609 (GRCm39) I247T probably damaging Het
Other mutations in Or6k2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01394:Or6k2 APN 1 173,986,423 (GRCm39) missense probably damaging 1.00
IGL02479:Or6k2 APN 1 173,986,520 (GRCm39) nonsense probably null
IGL03190:Or6k2 APN 1 173,987,110 (GRCm39) missense probably damaging 0.99
IGL03270:Or6k2 APN 1 173,987,119 (GRCm39) missense probably benign 0.04
R0645:Or6k2 UTSW 1 173,986,920 (GRCm39) missense probably benign 0.00
R0834:Or6k2 UTSW 1 173,986,930 (GRCm39) missense possibly damaging 0.55
R1432:Or6k2 UTSW 1 173,986,483 (GRCm39) missense possibly damaging 0.67
R1508:Or6k2 UTSW 1 173,986,930 (GRCm39) missense possibly damaging 0.55
R3440:Or6k2 UTSW 1 173,986,746 (GRCm39) missense probably benign 0.14
R3441:Or6k2 UTSW 1 173,986,746 (GRCm39) missense probably benign 0.14
R4571:Or6k2 UTSW 1 173,986,494 (GRCm39) missense possibly damaging 0.77
R5072:Or6k2 UTSW 1 173,986,527 (GRCm39) missense probably damaging 1.00
R6060:Or6k2 UTSW 1 173,986,907 (GRCm39) nonsense probably null
R6166:Or6k2 UTSW 1 173,986,659 (GRCm39) missense probably benign 0.43
R6228:Or6k2 UTSW 1 173,979,712 (GRCm39) missense probably benign 0.00
R6272:Or6k2 UTSW 1 173,986,741 (GRCm39) missense probably benign 0.02
R6298:Or6k2 UTSW 1 173,979,748 (GRCm39) missense probably benign 0.02
R6400:Or6k2 UTSW 1 173,986,830 (GRCm39) missense probably damaging 0.99
R7581:Or6k2 UTSW 1 173,986,337 (GRCm39) splice site probably null
R7677:Or6k2 UTSW 1 173,986,614 (GRCm39) missense probably damaging 1.00
R7823:Or6k2 UTSW 1 173,987,254 (GRCm39) missense probably benign 0.12
R7829:Or6k2 UTSW 1 173,986,425 (GRCm39) missense probably benign 0.00
R8077:Or6k2 UTSW 1 173,979,411 (GRCm39) unclassified probably benign
R8519:Or6k2 UTSW 1 173,986,614 (GRCm39) missense probably damaging 0.99
R9106:Or6k2 UTSW 1 173,986,369 (GRCm39) missense probably benign 0.00
R9205:Or6k2 UTSW 1 173,986,456 (GRCm39) missense probably benign 0.33
R9507:Or6k2 UTSW 1 173,986,552 (GRCm39) missense possibly damaging 0.94
R9797:Or6k2 UTSW 1 173,986,417 (GRCm39) missense probably benign
Z1187:Or6k2 UTSW 1 173,986,907 (GRCm39) nonsense probably null
Z1192:Or6k2 UTSW 1 173,986,907 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GGACACTTCCTGAAAAGCTTG -3'
(R):5'- AAACCTCACTGATGCCTGTGG -3'

Sequencing Primer
(F):5'- CCTGAAAAGCTTGAGTGCTC -3'
(R):5'- TCACTGATGCCTGTGGAATGGAAG -3'
Posted On 2014-10-30