Incidental Mutation 'R4720:Kcnn2'
ID354417
Institutional Source Beutler Lab
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
MMRRC Submission 041958-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #R4720 (G1)
Quality Score225
Status Not validated
Chromosome18
Chromosomal Location45268860-45686024 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 45683120 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 333 (T333S)
Ref Sequence ENSEMBL: ENSMUSP00000129659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066890] [ENSMUST00000169783] [ENSMUST00000183850] [ENSMUST00000211323]
Predicted Effect probably benign
Transcript: ENSMUST00000066890
AA Change: T738S

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: T738S

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 possibly damaging
Transcript: ENSMUST00000169783
AA Change: T333S

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129659
Gene: ENSMUSG00000054477
AA Change: T333S

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 benign
Transcript: ENSMUST00000183850
AA Change: T473S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: T473S

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 noncoding transcript
Transcript: ENSMUST00000184346
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184994
Predicted Effect probably benign
Transcript: ENSMUST00000211323
AA Change: T473S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
Meta Mutation Damage Score 0.0909 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,127,422 I1124T probably damaging Het
Acacb A G 5: 114,229,914 T1658A possibly damaging Het
Acvrl1 C A 15: 101,135,773 P112Q probably damaging Het
Als2cr12 T C 1: 58,678,348 I135V possibly damaging Het
Ankar A T 1: 72,699,011 I4K possibly damaging Het
Ankfn1 G C 11: 89,441,426 D431E possibly damaging Het
Apobec4 T C 1: 152,756,674 V151A possibly damaging Het
Atp10b A G 11: 43,203,122 S498G probably benign Het
Azin1 A G 15: 38,493,500 V293A probably benign Het
Ccdc88b T C 19: 6,857,715 E46G probably damaging Het
Ccdc96 T C 5: 36,484,875 probably benign Het
Ccnyl1 A G 1: 64,713,131 D169G probably benign Het
Cdca3 T A 6: 124,832,164 V89E probably damaging Het
Cdh19 A T 1: 110,895,381 probably null Het
Chka G A 19: 3,886,375 V238I probably damaging Het
Cntn3 T C 6: 102,242,022 K546E possibly damaging Het
Crybg3 A G 16: 59,539,817 V787A probably damaging Het
Dlgap3 T C 4: 127,195,715 probably null Het
Dnah8 C T 17: 30,683,634 L889F probably benign Het
Dnah9 T C 11: 66,076,358 E1658G probably damaging Het
Dnajc11 A G 4: 151,968,539 D102G probably damaging Het
Dync1i2 T G 2: 71,233,674 S121A probably damaging Het
Ece1 G A 4: 137,957,175 E591K probably damaging Het
Enthd1 G A 15: 80,560,309 S15L probably damaging Het
Epb41l2 T A 10: 25,471,626 H372Q probably damaging Het
Errfi1 T A 4: 150,866,747 Y211N probably damaging Het
Fam193b G A 13: 55,543,437 T208M probably benign Het
Fmnl2 C T 2: 53,107,540 T501M possibly damaging Het
Gkn3 C T 6: 87,383,525 A163T probably damaging Het
Gm340 G C 19: 41,585,895 A1030P probably benign Het
Gm4841 G T 18: 60,270,063 D319E probably benign Het
Gm5724 C A 6: 141,723,222 A495S probably damaging Het
Gucd1 A G 10: 75,509,660 F187S probably damaging Het
Hcar2 GCGGATGCGCAC GC 5: 123,864,689 probably null Het
Helz2 T C 2: 181,238,417 D502G probably damaging Het
Hspa2 A G 12: 76,404,865 E111G possibly damaging Het
Htr2a T A 14: 74,645,059 S162T probably damaging Het
Ift80 A G 3: 68,962,290 Y223H possibly damaging Het
Il1rl1 A G 1: 40,446,678 K330E probably benign Het
Il23r A T 6: 67,423,661 F562I probably damaging Het
Isx T C 8: 74,873,859 probably null Het
Jcad G A 18: 4,674,055 V606I probably benign Het
Kcnq5 C T 1: 21,403,050 A630T probably damaging Het
Kif2c T C 4: 117,171,749 M188V probably benign Het
Kntc1 T C 5: 123,765,023 V321A possibly damaging Het
Krtap4-8 A T 11: 99,780,445 probably benign Het
Lgals3bp A C 11: 118,398,469 L52R probably damaging Het
Lipk C A 19: 34,021,699 H126Q probably damaging Het
Lpgat1 T C 1: 191,763,667 Y323H probably damaging Het
Lrp2 T G 2: 69,481,173 N2654H probably damaging Het
Lsm14b C T 2: 180,027,981 Q6* probably null Het
Lysmd3 C T 13: 81,669,465 A187V possibly damaging Het
Map2k5 A G 9: 63,293,719 S211P probably damaging Het
Mlph A T 1: 90,941,697 I474F probably damaging Het
Mpped2 T C 2: 106,783,746 S142P probably damaging Het
Nemf A C 12: 69,324,288 M678R probably benign Het
Nfe2l1 A T 11: 96,827,689 Y7N probably damaging Het
Nfkbie T G 17: 45,556,306 D122E probably benign Het
Noc3l C A 19: 38,789,622 A783S probably benign Het
Nol8 T C 13: 49,662,753 V761A probably damaging Het
Nvl A G 1: 181,101,587 L743P probably damaging Het
Olfr3 T A 2: 36,812,472 I207F probably benign Het
Plcb1 A G 2: 135,251,747 K160R possibly damaging Het
Plekhg3 G T 12: 76,578,322 G1313C possibly damaging Het
Plekhh1 GTCAAA G 12: 79,075,420 probably null Het
Popdc3 G A 10: 45,314,906 V38I probably benign Het
Prdx3 A T 19: 60,870,113 V114D possibly damaging Het
Prkdc T A 16: 15,667,715 S469T probably benign Het
Rbm22 G A 18: 60,564,391 R56H probably damaging Het
Reln A T 5: 22,286,896 F113I possibly damaging Het
Rims1 A G 1: 22,427,481 Y808H probably damaging Het
Rsbn1 C A 3: 103,929,020 T458N possibly damaging Het
Serpina3b A G 12: 104,130,630 S57G possibly damaging Het
Skor2 G T 18: 76,861,183 probably null Het
Slc22a4 A T 11: 53,988,893 Y447N probably damaging Het
Stx19 G T 16: 62,822,319 R166L probably damaging Het
Svep1 T C 4: 58,205,869 T170A possibly damaging Het
Sycp2 T G 2: 178,374,432 S746R probably benign Het
Tchh G T 3: 93,447,882 R1543L unknown Het
Tjp2 T C 19: 24,100,805 D908G probably damaging Het
Ttc8 C A 12: 98,979,809 A452E possibly damaging Het
Unc5a T A 13: 55,003,883 W709R probably null Het
Unc80 T A 1: 66,510,792 S736R possibly damaging Het
Vmn2r100 C A 17: 19,522,526 H387Q probably benign Het
Vmn2r39 C T 7: 9,023,470 probably null Het
Vmn2r88 T A 14: 51,413,245 D138E probably benign Het
Vwce T C 19: 10,648,467 F448L possibly damaging Het
Wdr75 C T 1: 45,822,485 S695F probably benign Het
Zfand4 T C 6: 116,288,161 probably null Het
Zfp511 T A 7: 140,037,511 probably null Het
Zfyve9 T C 4: 108,644,368 K584E 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
IGL03343:Kcnn2 APN 18 45676959 missense probably damaging 0.97
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
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
R7324:Kcnn2 UTSW 18 45560071 missense probably benign
R7509:Kcnn2 UTSW 18 45683120 missense probably benign 0.32
R7667:Kcnn2 UTSW 18 45559438 missense possibly damaging 0.53
R8064:Kcnn2 UTSW 18 45559359 start codon destroyed probably benign 0.01
R8122:Kcnn2 UTSW 18 45676938 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- ATAACCAGTGTGGACTTTACCC -3'
(R):5'- TGAGCATATGAACTCAGCCC -3'

Sequencing Primer
(F):5'- CCCCAAATAGTCAAGGCATTTTC -3'
(R):5'- GCATATGAACTCAGCCCATATTTTAG -3'
Posted On2015-10-21