Incidental Mutation 'IGL00955:Kcnk2'
ID26701
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnk2
Ensembl Gene ENSMUSG00000037624
Gene Namepotassium channel, subfamily K, member 2
SynonymsTREK-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL00955
Quality Score
Status
Chromosome1
Chromosomal Location189207930-189402273 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 189243014 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 264 (I264N)
Ref Sequence ENSEMBL: ENSMUSP00000141849 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079451] [ENSMUST00000110920] [ENSMUST00000180044] [ENSMUST00000192723] [ENSMUST00000193319] [ENSMUST00000194172] [ENSMUST00000194402]
Predicted Effect probably benign
Transcript: ENSMUST00000079451
AA Change: I267N

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000078416
Gene: ENSMUSG00000037624
AA Change: I267N

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 damaging
Transcript: ENSMUST00000110920
AA Change: I264N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106545
Gene: ENSMUSG00000037624
AA Change: I264N

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 damaging
Transcript: ENSMUST00000192723
AA Change: I264N

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141849
Gene: ENSMUSG00000037624
AA Change: I264N

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: ENSMUST00000193319
AA Change: I279N

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141891
Gene: ENSMUSG00000037624
AA Change: I279N

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 benign
Transcript: ENSMUST00000194172
AA Change: L213M

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142176
Gene: ENSMUSG00000037624
AA Change: L213M

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000194402
AA Change: I275N

PolyPhen 2 Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000142026
Gene: ENSMUSG00000037624
AA Change: I275N

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
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl11 A T 14: 61,311,242 Q167L probably benign Het
Ces3a T A 8: 105,050,570 V175E probably damaging Het
Cherp C T 8: 72,470,194 E140K probably damaging Het
Clpx A T 9: 65,324,270 T546S probably damaging Het
Csgalnact2 A G 6: 118,129,264 L31P probably damaging Het
Cxcr1 A T 1: 74,192,220 F214L probably benign Het
Cyp2c67 T A 19: 39,643,385 T123S possibly damaging Het
Dbt G A 3: 116,546,114 G384S probably benign Het
Dzank1 G A 2: 144,490,174 T414I probably benign Het
Erich3 A G 3: 154,748,519 I641V probably benign Het
Gtf2e1 A T 16: 37,535,920 D83E possibly damaging Het
Hars2 T C 18: 36,789,357 probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kcnh2 T C 5: 24,324,966 D372G probably damaging Het
Kctd4 A G 14: 75,963,228 D213G probably damaging Het
Lhx9 T C 1: 138,828,680 T323A possibly damaging Het
Lilra6 C A 7: 3,911,404 probably benign Het
Meig1 T C 2: 3,409,274 D63G probably damaging Het
Mov10l1 A G 15: 88,994,989 Y184C probably damaging Het
Mrpl24 T A 3: 87,922,219 L91* probably null Het
Mup11 C T 4: 60,659,550 R175H probably benign Het
Nbea T C 3: 56,005,472 K965E possibly damaging Het
Olfr598 C A 7: 103,329,321 H278Q probably damaging Het
Papss1 G A 3: 131,599,949 E252K probably benign Het
Robo2 A T 16: 74,015,972 L278Q probably damaging Het
Sned1 A T 1: 93,274,403 I638F probably damaging Het
Spin1 T C 13: 51,144,541 probably null Het
Taar9 T C 10: 24,109,531 T2A probably benign Het
Tbc1d8b T C X: 139,725,880 probably null Het
Other mutations in Kcnk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01100:Kcnk2 APN 1 189339936 missense probably damaging 1.00
IGL01872:Kcnk2 APN 1 189256583 missense probably damaging 1.00
IGL01929:Kcnk2 APN 1 189340030 missense probably damaging 1.00
IGL02643:Kcnk2 APN 1 189258779 missense possibly damaging 0.63
IGL03056:Kcnk2 APN 1 189295711 missense possibly damaging 0.82
IGL03340:Kcnk2 APN 1 189295681 missense possibly damaging 0.51
R0041:Kcnk2 UTSW 1 189295691 missense probably benign 0.44
R0041:Kcnk2 UTSW 1 189295691 missense probably benign 0.44
R0279:Kcnk2 UTSW 1 189209972 missense possibly damaging 0.58
R0569:Kcnk2 UTSW 1 189339801 missense probably damaging 1.00
R0645:Kcnk2 UTSW 1 189256730 intron probably null
R1070:Kcnk2 UTSW 1 189256763 splice site probably benign
R1449:Kcnk2 UTSW 1 189340026 missense probably benign 0.31
R2401:Kcnk2 UTSW 1 189340017 missense possibly damaging 0.64
R4418:Kcnk2 UTSW 1 189256727 missense probably damaging 1.00
R4923:Kcnk2 UTSW 1 189339936 missense probably damaging 1.00
R5782:Kcnk2 UTSW 1 189256579 missense probably damaging 1.00
R5845:Kcnk2 UTSW 1 189277721 intron probably benign
R6140:Kcnk2 UTSW 1 189209907 missense probably damaging 0.97
R6240:Kcnk2 UTSW 1 189242982 missense probably damaging 1.00
R6881:Kcnk2 UTSW 1 189209990 missense probably benign 0.00
R8046:Kcnk2 UTSW 1 189258736 critical splice donor site probably null
Posted On2013-04-17