Incidental Mutation 'IGL03343:Kcnn2'
ID417331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnn2
Ensembl Gene ENSMUSG00000054477
Gene Namepotassium intermediate/small conductance calcium-activated channel, subfamily N, member 2
Synonymsfri, SK2, small conductance calcium-activated potassium channel 2, bc
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.232) question?
Stock #IGL03343
Quality Score
Status
Chromosome18
Chromosomal Location45268860-45686024 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 45676959 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 421 (V421A)
Ref Sequence ENSEMBL: ENSMUSP00000148153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066890] [ENSMUST00000169783] [ENSMUST00000183850] [ENSMUST00000211323]
Predicted Effect probably damaging
Transcript: ENSMUST00000066890
AA Change: V686A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: V686A

DomainStartEndE-ValueType
low complexity region 62 76 N/A INTRINSIC
low complexity region 84 90 N/A INTRINSIC
low complexity region 98 114 N/A INTRINSIC
low complexity region 129 141 N/A INTRINSIC
low complexity region 158 180 N/A INTRINSIC
low complexity region 198 212 N/A INTRINSIC
low complexity region 219 254 N/A INTRINSIC
low complexity region 279 289 N/A INTRINSIC
low complexity region 301 326 N/A INTRINSIC
low complexity region 345 373 N/A INTRINSIC
Pfam:SK_channel 380 493 2.2e-51 PFAM
transmembrane domain 516 535 N/A INTRINSIC
Pfam:Ion_trans_2 572 658 2.2e-14 PFAM
CaMBD 672 748 6.51e-51 SMART
coiled coil region 751 784 N/A INTRINSIC
low complexity region 815 839 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167895
SMART Domains Protein: ENSMUSP00000126285
Gene: ENSMUSG00000054477

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
low complexity region 36 61 N/A INTRINSIC
low complexity region 80 108 N/A INTRINSIC
Pfam:SK_channel 115 233 7e-61 PFAM
transmembrane domain 251 270 N/A INTRINSIC
Pfam:Ion_trans_2 306 394 6.2e-15 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000169783
AA Change: V281A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129659
Gene: ENSMUSG00000054477
AA Change: V281A

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
low complexity region 36 61 N/A INTRINSIC
low complexity region 80 108 N/A INTRINSIC
Pfam:SK_channel 115 215 1.4e-36 PFAM
Pfam:Ion_trans_2 169 254 9.5e-15 PFAM
CaMBD 267 343 6.51e-51 SMART
coiled coil region 346 379 N/A INTRINSIC
low complexity region 410 434 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000183850
AA Change: V421A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: V421A

DomainStartEndE-ValueType
low complexity region 62 76 N/A INTRINSIC
low complexity region 84 90 N/A INTRINSIC
low complexity region 98 114 N/A INTRINSIC
low complexity region 129 141 N/A INTRINSIC
low complexity region 158 180 N/A INTRINSIC
low complexity region 198 212 N/A INTRINSIC
low complexity region 219 254 N/A INTRINSIC
low complexity region 279 289 N/A INTRINSIC
low complexity region 301 326 N/A INTRINSIC
low complexity region 345 373 N/A INTRINSIC
Pfam:SK_channel 380 498 2.9e-60 PFAM
transmembrane domain 516 535 N/A INTRINSIC
Pfam:Ion_trans_2 573 659 1.8e-14 PFAM
CaMBD 672 748 6.51e-51 SMART
coiled coil region 751 784 N/A INTRINSIC
low complexity region 815 839 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000211323
AA Change: V421A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a point mutation exhibit tremor and gait abnormalities. Homozygous null mice lack the apamin sensitive component of the medium afterhyperpolarization current but have normal hippocampal morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430419D17Rik T A 7: 131,246,691 I858N probably damaging Het
Adamts17 A G 7: 67,075,316 H795R probably damaging Het
Adgrl2 A T 3: 148,859,380 I188K probably damaging Het
Adgrv1 A G 13: 81,283,388 Y5974H probably damaging Het
Angpt4 A G 2: 151,936,703 T336A probably damaging Het
Arhgap30 C A 1: 171,409,094 T1012N probably damaging Het
Asl A T 5: 130,012,067 Y178N probably damaging Het
Brd1 C A 15: 88,707,251 L714F possibly damaging Het
Ccdc129 T G 6: 55,968,584 D763E probably damaging Het
Ccdc47 A G 11: 106,204,962 S303P probably damaging Het
Cdk16 A G X: 20,695,759 K264E probably damaging Het
Cenpc1 A T 5: 86,016,322 F813L probably damaging Het
Cfp A C X: 20,928,009 F291C possibly damaging Het
Chordc1 T G 9: 18,312,466 F276V probably damaging Het
Clic4 C T 4: 135,218,578 R176H possibly damaging Het
Dusp27 T C 1: 166,099,448 D865G probably benign Het
Fcer1a T G 1: 173,225,473 N52T possibly damaging Het
Fndc7 A T 3: 108,867,308 C545S probably damaging Het
Frem2 T C 3: 53,652,253 D1611G probably damaging Het
Fryl G A 5: 73,076,695 P1496S probably benign Het
Gga3 A T 11: 115,592,486 N82K probably damaging Het
Gm43638 G A 5: 87,460,625 P452S possibly damaging Het
Gpn1 T C 5: 31,504,965 S244P probably damaging Het
Hspa12a T C 19: 58,799,396 S665G probably benign Het
Htt A G 5: 34,826,041 I995V probably benign Het
Iars A T 13: 49,724,747 I916L probably benign Het
Ice1 C A 13: 70,602,929 L1679F probably damaging Het
Inpp1 A T 1: 52,799,327 D54E probably damaging Het
Irf2bpl T C 12: 86,882,939 E320G possibly damaging Het
Micu2 A G 14: 57,917,311 V419A probably benign Het
Nek9 C T 12: 85,303,609 C897Y probably damaging Het
Ofcc1 A C 13: 40,072,664 H797Q probably benign Het
Olfr1024 T C 2: 85,904,941 T38A probably benign Het
Olfr109 G A 17: 37,466,409 D68N probably damaging Het
Olfr1388 C A 11: 49,444,243 H131N probably damaging Het
Olfr822 T G 10: 130,075,256 L282R probably damaging Het
Pakap C T 4: 57,688,502 T115M probably damaging Het
Papss1 G A 3: 131,583,189 G151S probably benign Het
Plxnb1 A G 9: 109,114,712 T1956A probably damaging Het
Pomt1 A G 2: 32,253,712 probably benign Het
Ppfibp2 T A 7: 107,737,919 Y570* probably null Het
Ppp1r9a A G 6: 5,046,015 E493G probably damaging Het
Ptk2b A G 14: 66,169,421 F621L probably benign Het
Ptpn13 G T 5: 103,554,950 D1261Y possibly damaging Het
Ptprd C T 4: 76,059,729 G181D probably damaging Het
Rabgap1l T C 1: 160,443,283 T645A probably benign Het
Slc2a7 T C 4: 150,168,340 I479T probably damaging Het
Smc3 A G 19: 53,613,842 N40S probably damaging Het
Spata31 A T 13: 64,919,773 D83V probably benign Het
Sptb C T 12: 76,583,556 probably benign Het
Ssc4d A T 5: 135,961,174 C493* probably null Het
Ubr2 C A 17: 46,951,918 V1256L probably benign Het
Ubr3 T C 2: 69,973,146 probably benign Het
Vmn2r105 C T 17: 20,226,369 W456* probably null Het
Vmn2r24 T A 6: 123,816,111 I799N probably damaging Het
Vps13b G A 15: 35,917,170 G3720D possibly damaging Het
Other mutations in Kcnn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Kcnn2 APN 18 45592236 missense probably damaging 0.98
IGL00341:Kcnn2 APN 18 45677071 splice site probably benign
IGL01317:Kcnn2 APN 18 45560627 splice site probably null
IGL02121:Kcnn2 APN 18 45561273 missense probably damaging 0.98
IGL02561:Kcnn2 APN 18 45592192 missense possibly damaging 0.59
IGL03000:Kcnn2 APN 18 45560568 missense probably damaging 0.97
IGL03116:Kcnn2 APN 18 45655206 missense probably damaging 1.00
IGL03155:Kcnn2 APN 18 45685315 missense probably damaging 0.99
IGL03289:Kcnn2 APN 18 45677044 missense probably damaging 1.00
jitter UTSW 18 45561253 synonymous silent
I2288:Kcnn2 UTSW 18 45675273 intron probably benign
R0256:Kcnn2 UTSW 18 45592405 missense probably damaging 0.98
R0310:Kcnn2 UTSW 18 45560518 missense probably damaging 1.00
R0464:Kcnn2 UTSW 18 45560359 missense probably damaging 0.99
R0468:Kcnn2 UTSW 18 45559471 missense possibly damaging 0.96
R0485:Kcnn2 UTSW 18 45560148 missense probably benign 0.06
R0722:Kcnn2 UTSW 18 45559476 missense possibly damaging 0.73
R0898:Kcnn2 UTSW 18 45559476 missense possibly damaging 0.73
R1567:Kcnn2 UTSW 18 45670334 splice site probably null
R4543:Kcnn2 UTSW 18 45559648 missense probably benign 0.00
R4720:Kcnn2 UTSW 18 45683120 missense possibly damaging 0.78
R4732:Kcnn2 UTSW 18 45560349 missense possibly damaging 0.94
R4733:Kcnn2 UTSW 18 45560349 missense possibly damaging 0.94
R4801:Kcnn2 UTSW 18 45685267 splice site probably benign
R4844:Kcnn2 UTSW 18 45683120 missense possibly damaging 0.78
R4927:Kcnn2 UTSW 18 45559731 missense probably benign 0.01
R5011:Kcnn2 UTSW 18 45685285 missense possibly damaging 0.86
R5108:Kcnn2 UTSW 18 45592055 missense probably damaging 0.99
R5805:Kcnn2 UTSW 18 45683131 missense probably damaging 0.98
R5841:Kcnn2 UTSW 18 45559396 missense probably benign
R5888:Kcnn2 UTSW 18 45592345 missense probably damaging 0.98
R5926:Kcnn2 UTSW 18 45685284 missense probably benign 0.01
R6552:Kcnn2 UTSW 18 45560098 missense probably benign 0.00
R6882:Kcnn2 UTSW 18 45559438 missense possibly damaging 0.53
R6999:Kcnn2 UTSW 18 45592377 missense probably damaging 0.99
Posted On2016-08-02