Incidental Mutation 'R6140:Kcnk2'
ID 488517
Institutional Source Beutler Lab
Gene Symbol Kcnk2
Ensembl Gene ENSMUSG00000037624
Gene Name potassium channel, subfamily K, member 2
Synonyms TREK-1
MMRRC Submission 044287-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.102) question?
Stock # R6140 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 188940127-189134470 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 188942104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 384 (H384Q)
Ref Sequence ENSEMBL: ENSMUSP00000142026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079451] [ENSMUST00000110920] [ENSMUST00000180044] [ENSMUST00000192723] [ENSMUST00000193319] [ENSMUST00000194402] [ENSMUST00000194172]
AlphaFold P97438
Predicted Effect probably damaging
Transcript: ENSMUST00000079451
AA Change: H376Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000078416
Gene: ENSMUSG00000037624
AA Change: H376Q

DomainStartEndE-ValueType
Pfam:Ion_trans_2 117 197 2e-20 PFAM
low complexity region 221 230 N/A INTRINSIC
Pfam:Ion_trans_2 233 313 6.8e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110920
AA Change: H373Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106545
Gene: ENSMUSG00000037624
AA Change: H373Q

DomainStartEndE-ValueType
Pfam:Ion_trans_2 102 183 2.4e-21 PFAM
Pfam:Ion_trans_2 211 298 3.7e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000180044
SMART Domains Protein: ENSMUSP00000136513
Gene: ENSMUSG00000037624

DomainStartEndE-ValueType
Pfam:Ion_trans_2 102 183 2.4e-21 PFAM
Pfam:Ion_trans_2 211 298 3.7e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192529
Predicted Effect probably benign
Transcript: ENSMUST00000192723
AA Change: H373Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000141849
Gene: ENSMUSG00000037624
AA Change: H373Q

DomainStartEndE-ValueType
Pfam:Ion_trans_2 102 183 2.4e-21 PFAM
Pfam:Ion_trans_2 211 298 3.7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000193319
AA Change: H388Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000141891
Gene: ENSMUSG00000037624
AA Change: H388Q

DomainStartEndE-ValueType
Pfam:Ion_trans_2 117 198 2.5e-21 PFAM
Pfam:Ion_trans_2 226 313 3.7e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000194402
AA Change: H384Q

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142026
Gene: ENSMUSG00000037624
AA Change: H384Q

DomainStartEndE-ValueType
transmembrane domain 57 76 N/A INTRINSIC
Pfam:Ion_trans_2 113 194 1.4e-19 PFAM
Pfam:Ion_trans_2 222 309 2.2e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193686
Predicted Effect probably benign
Transcript: ENSMUST00000194172
SMART Domains Protein: ENSMUSP00000142176
Gene: ENSMUSG00000037624

DomainStartEndE-ValueType
transmembrane domain 57 76 N/A INTRINSIC
Pfam:Ion_trans_2 113 194 5e-20 PFAM
low complexity region 216 231 N/A INTRINSIC
Meta Mutation Damage Score 0.0669 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 96.9%
  • 20x: 91.8%
Validation Efficiency 100% (46/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display increased sensitivity to pharmacologically induced seizures and ischemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410004P03Rik T C 12: 17,055,923 (GRCm39) probably benign Het
Adgra2 A T 8: 27,605,433 (GRCm39) R593W probably damaging Het
Agfg2 T C 5: 137,665,347 (GRCm39) Q136R probably damaging Het
Ankrd42 T C 7: 92,241,036 (GRCm39) probably null Het
Baz2b T C 2: 59,742,871 (GRCm39) D1643G probably damaging Het
Ccdc171 C T 4: 83,614,554 (GRCm39) Q1060* probably null Het
Cela1 C T 15: 100,579,037 (GRCm39) R207H probably benign Het
Cfhr4 A G 1: 139,660,133 (GRCm39) V664A probably damaging Het
Clic6 A G 16: 92,336,380 (GRCm39) R563G probably damaging Het
Cspg4 A T 9: 56,804,508 (GRCm39) H1773L probably benign Het
Ddrgk1 A G 2: 130,500,534 (GRCm39) V204A probably benign Het
Dhrs7c A T 11: 67,705,900 (GRCm39) T218S probably damaging Het
Dlgap4 A T 2: 156,604,649 (GRCm39) probably null Het
Hgd A T 16: 37,410,075 (GRCm39) Y37F probably benign Het
Hmcn1 A C 1: 150,608,597 (GRCm39) N1528K probably damaging Het
Hps3 A G 3: 20,051,151 (GRCm39) F843S probably damaging Het
Ifih1 A G 2: 62,431,804 (GRCm39) F800S possibly damaging Het
Igsf21 T A 4: 139,834,684 (GRCm39) T63S probably benign Het
Il18rap T G 1: 40,564,212 (GRCm39) M110R probably benign Het
Lima1 C T 15: 99,678,939 (GRCm39) V341M probably damaging Het
Lins1 T C 7: 66,361,672 (GRCm39) L441P probably damaging Het
Lss T C 10: 76,386,522 (GRCm39) Y642H probably damaging Het
Mrc2 A G 11: 105,237,615 (GRCm39) T1098A probably benign Het
Nf1 T A 11: 79,364,146 (GRCm39) probably null Het
Nrdc G T 4: 108,906,308 (GRCm39) A730S probably damaging Het
Nup214 C T 2: 31,941,808 (GRCm39) T72I possibly damaging Het
Or6c213 T G 10: 129,574,523 (GRCm39) K88Q possibly damaging Het
Or8g33 A G 9: 39,337,543 (GRCm39) S275P possibly damaging Het
Or8k35 A T 2: 86,424,448 (GRCm39) C241* probably null Het
Oxt A G 2: 130,418,191 (GRCm39) Y21C probably damaging Het
Pla2g12b G A 10: 59,257,263 (GRCm39) probably benign Het
Ralgapb T C 2: 158,298,492 (GRCm39) V907A probably damaging Het
Rnls A T 19: 33,115,600 (GRCm39) D157E probably damaging Het
Slc7a14 C A 3: 31,291,697 (GRCm39) V194L probably benign Het
Slc7a7 G A 14: 54,616,515 (GRCm39) T189I probably damaging Het
Snupn C A 9: 56,890,108 (GRCm39) Q310K possibly damaging Het
Ssh1 A G 5: 114,080,692 (GRCm39) Y891H probably benign Het
Suclg2 T C 6: 95,546,702 (GRCm39) D258G probably damaging Het
Tpk1 A T 6: 43,400,635 (GRCm39) M129K probably benign Het
Ubr3 A G 2: 69,803,673 (GRCm39) I1088V probably benign Het
Vmn1r3 A G 4: 3,185,031 (GRCm39) I92T probably damaging Het
Vmn2r69 G A 7: 85,060,657 (GRCm39) S309F probably damaging Het
Wsb1 A T 11: 79,132,444 (GRCm39) H325Q probably damaging Het
Zfp263 A G 16: 3,566,081 (GRCm39) S281G probably benign Het
Zfp507 A G 7: 35,493,613 (GRCm39) S477P probably damaging Het
Other mutations in Kcnk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Kcnk2 APN 1 188,975,211 (GRCm39) missense probably damaging 0.96
IGL01100:Kcnk2 APN 1 189,072,133 (GRCm39) missense probably damaging 1.00
IGL01872:Kcnk2 APN 1 188,988,780 (GRCm39) missense probably damaging 1.00
IGL01929:Kcnk2 APN 1 189,072,227 (GRCm39) missense probably damaging 1.00
IGL02643:Kcnk2 APN 1 188,990,976 (GRCm39) missense possibly damaging 0.63
IGL03056:Kcnk2 APN 1 189,027,908 (GRCm39) missense possibly damaging 0.82
IGL03340:Kcnk2 APN 1 189,027,878 (GRCm39) missense possibly damaging 0.51
R0041:Kcnk2 UTSW 1 189,027,888 (GRCm39) missense probably benign 0.44
R0041:Kcnk2 UTSW 1 189,027,888 (GRCm39) missense probably benign 0.44
R0279:Kcnk2 UTSW 1 188,942,169 (GRCm39) missense possibly damaging 0.58
R0569:Kcnk2 UTSW 1 189,071,998 (GRCm39) missense probably damaging 1.00
R0645:Kcnk2 UTSW 1 188,988,927 (GRCm39) splice site probably null
R1070:Kcnk2 UTSW 1 188,988,960 (GRCm39) splice site probably benign
R1449:Kcnk2 UTSW 1 189,072,223 (GRCm39) missense probably benign 0.31
R2401:Kcnk2 UTSW 1 189,072,214 (GRCm39) missense possibly damaging 0.64
R4418:Kcnk2 UTSW 1 188,988,924 (GRCm39) missense probably damaging 1.00
R4923:Kcnk2 UTSW 1 189,072,133 (GRCm39) missense probably damaging 1.00
R5782:Kcnk2 UTSW 1 188,988,776 (GRCm39) missense probably damaging 1.00
R5845:Kcnk2 UTSW 1 189,009,918 (GRCm39) intron probably benign
R6240:Kcnk2 UTSW 1 188,975,179 (GRCm39) missense probably damaging 1.00
R6881:Kcnk2 UTSW 1 188,942,187 (GRCm39) missense probably benign 0.00
R7990:Kcnk2 UTSW 1 188,942,102 (GRCm39) missense probably damaging 0.99
R8046:Kcnk2 UTSW 1 188,990,933 (GRCm39) critical splice donor site probably null
R8322:Kcnk2 UTSW 1 189,072,046 (GRCm39) missense probably benign 0.00
R9099:Kcnk2 UTSW 1 188,991,072 (GRCm39) missense probably damaging 1.00
R9482:Kcnk2 UTSW 1 188,988,891 (GRCm39) frame shift probably null
R9484:Kcnk2 UTSW 1 188,988,891 (GRCm39) frame shift probably null
R9576:Kcnk2 UTSW 1 188,988,891 (GRCm39) frame shift probably null
R9577:Kcnk2 UTSW 1 188,988,891 (GRCm39) frame shift probably null
R9578:Kcnk2 UTSW 1 188,988,891 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- AGAGCCTAGAGAAGCCCTTC -3'
(R):5'- AGCTCCCATGTTGATAGCTTC -3'

Sequencing Primer
(F):5'- TAGAGAAGCCCTTCCCTATGG -3'
(R):5'- AGAGTTCAGAGCGCATGCC -3'
Posted On 2017-10-10