Incidental Mutation 'R5011:Kcnn2'
ID 390558
Institutional Source Beutler Lab
Gene Symbol Kcnn2
Ensembl Gene ENSMUSG00000054477
Gene Name potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2
Synonyms small conductance calcium-activated potassium channel 2, bc, fri, SK2
MMRRC Submission 042602-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R5011 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 45401927-45819091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45818352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 483 (I483N)
Ref Sequence ENSEMBL: ENSMUSP00000148153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066890] [ENSMUST00000169783] [ENSMUST00000183850] [ENSMUST00000211323]
AlphaFold P58390
Predicted Effect probably benign
Transcript: ENSMUST00000066890
AA Change: I748N

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: I748N

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 probably benign
Transcript: ENSMUST00000169783
AA Change: I343N

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129659
Gene: ENSMUSG00000054477
AA Change: I343N

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 possibly damaging
Transcript: ENSMUST00000183850
AA Change: I483N

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: I483N

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 possibly damaging
Transcript: ENSMUST00000211323
AA Change: I483N

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.0793 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 100% (104/104)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810010H24Rik T C 11: 106,919,324 (GRCm39) V223A probably damaging Het
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ahctf1 A T 1: 179,611,675 (GRCm39) I565N possibly damaging Het
Ank1 C T 8: 23,572,300 (GRCm39) T70I probably damaging Het
Atg16l1 C A 1: 87,701,902 (GRCm39) S248* probably null Het
Atp13a5 A T 16: 29,169,566 (GRCm39) L42Q probably damaging Het
Atxn1 T C 13: 45,710,545 (GRCm39) N796D probably damaging Het
C3 T A 17: 57,530,236 (GRCm39) Y455F probably benign Het
Card11 A T 5: 140,862,275 (GRCm39) D1007E possibly damaging Het
Cbr2 T C 11: 120,621,697 (GRCm39) D60G possibly damaging Het
Cgn T A 3: 94,683,455 (GRCm39) E400V probably null Het
Chil3 T A 3: 106,057,477 (GRCm39) Y229F possibly damaging Het
Clcn2 G A 16: 20,525,965 (GRCm39) P785S probably damaging Het
Clk1 T C 1: 58,453,642 (GRCm39) I315V probably benign Het
Cops6 A G 5: 138,160,459 (GRCm39) D102G probably benign Het
Dennd5a A G 7: 109,513,983 (GRCm39) I743T possibly damaging Het
Dnaaf5 T A 5: 139,149,012 (GRCm39) L437Q probably damaging Het
Dnah12 T A 14: 26,431,326 (GRCm39) D381E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Draxin C A 4: 148,192,436 (GRCm39) R292L probably damaging Het
Dst T C 1: 34,289,728 (GRCm39) V5776A probably damaging Het
Eddm13 G A 7: 6,269,332 (GRCm39) probably benign Het
Ercc4 G A 16: 12,941,445 (GRCm39) probably benign Het
Eya1 T A 1: 14,254,582 (GRCm39) N417Y probably damaging Het
Fam149b T A 14: 20,413,439 (GRCm39) H219Q possibly damaging Het
Fam227b G A 2: 125,958,043 (GRCm39) P241S probably damaging Het
Fat1 A T 8: 45,484,300 (GRCm39) probably null Het
Fbxl18 A G 5: 142,872,435 (GRCm39) S267P probably damaging Het
Fer1l4 T C 2: 155,873,135 (GRCm39) Y1315C probably damaging Het
Fgd2 T C 17: 29,593,954 (GRCm39) probably null Het
Gm7251 T A 13: 49,958,656 (GRCm39) noncoding transcript Het
Golt1a T C 1: 133,248,006 (GRCm39) V78A probably damaging Het
Gsn T A 2: 35,188,933 (GRCm39) Y440N probably damaging Het
Gtf2ird2 G T 5: 134,245,824 (GRCm39) S694I possibly damaging Het
H2-Ob T A 17: 34,460,253 (GRCm39) probably null Het
Hsp90b1 T C 10: 86,532,617 (GRCm39) D353G probably benign Het
Ilk A G 7: 105,391,456 (GRCm39) D374G probably damaging Het
Invs G A 4: 48,421,807 (GRCm39) R813Q probably damaging Het
Itga7 G A 10: 128,785,316 (GRCm39) V836M possibly damaging Het
Itln1 T A 1: 171,360,958 (GRCm39) K45* probably null Het
Ivd A G 2: 118,710,946 (GRCm39) Y385C probably damaging Het
Ivns1abp T A 1: 151,238,953 (GRCm39) M589K possibly damaging Het
Jakmip3 C T 7: 138,621,951 (GRCm39) R284W probably damaging Het
Kank3 T C 17: 34,041,044 (GRCm39) L512P probably damaging Het
Klk1b4 A G 7: 43,860,492 (GRCm39) N170S probably benign Het
Klk1b9 A C 7: 43,445,419 (GRCm39) D203A probably damaging Het
Lbr A T 1: 181,647,453 (GRCm39) Y199* probably null Het
Lcn6 T A 2: 25,567,082 (GRCm39) probably null Het
Lrriq1 T C 10: 103,025,784 (GRCm39) D946G probably damaging Het
Ltbp1 T A 17: 75,373,152 (GRCm39) L265H probably damaging Het
Maml3 A T 3: 51,598,196 (GRCm39) N183K possibly damaging Het
Mprip T C 11: 59,650,721 (GRCm39) V1475A possibly damaging Het
Myh4 C A 11: 67,147,189 (GRCm39) S1611R probably benign Het
Nagpa A T 16: 5,013,743 (GRCm39) M365K probably benign Het
Nckap5l G T 15: 99,324,457 (GRCm39) P682Q probably benign Het
Nudt12 T C 17: 59,303,499 (GRCm39) probably benign Het
Nup153 T C 13: 46,840,879 (GRCm39) T910A possibly damaging Het
Or1e31 T A 11: 73,690,473 (GRCm39) T37S possibly damaging Het
Or5ae2 T C 7: 84,505,646 (GRCm39) V23A probably damaging Het
Or7c74 A G 2: 37,160,937 (GRCm39) noncoding transcript Het
Or8k53 A T 2: 86,177,647 (GRCm39) F154L probably benign Het
Pate14 T C 9: 36,549,120 (GRCm39) N47D probably benign Het
Pbx2 T A 17: 34,813,673 (GRCm39) C224* probably null Het
Pcdha6 A G 18: 37,100,960 (GRCm39) D51G probably damaging Het
Pnpla1 C T 17: 29,104,558 (GRCm39) T538I possibly damaging Het
Pnpla2 T C 7: 141,039,204 (GRCm39) probably null Het
Psme2b C T 11: 48,836,654 (GRCm39) E98K probably benign Het
Ranbp2 T A 10: 58,297,717 (GRCm39) S375T probably benign Het
Rimbp2 T C 5: 128,880,985 (GRCm39) Y134C probably damaging Het
Ryr1 G A 7: 28,802,234 (GRCm39) probably null Het
Sh3tc1 G T 5: 35,857,633 (GRCm39) A1185D probably damaging Het
Sin3b G A 8: 73,471,184 (GRCm39) S377N probably benign Het
Slc28a2 T C 2: 122,288,371 (GRCm39) M554T possibly damaging Het
Snhg11 T C 2: 158,218,872 (GRCm39) probably benign Het
Spink5 A T 18: 44,139,479 (GRCm39) N614I probably damaging Het
Tert T C 13: 73,794,428 (GRCm39) probably null Het
Thap4 T C 1: 93,677,598 (GRCm39) Y396C probably damaging Het
Tle2 T C 10: 81,420,531 (GRCm39) L348P probably damaging Het
Tmem104 T C 11: 115,134,312 (GRCm39) S283P probably damaging Het
Tnn T C 1: 159,953,949 (GRCm39) E602G possibly damaging Het
Tpm4 A G 8: 72,900,938 (GRCm39) K190R probably benign Het
Ttf2 T C 3: 100,870,485 (GRCm39) E196G probably benign Het
Ugt3a1 T C 15: 9,365,373 (GRCm39) W329R probably damaging Het
Unc13a G A 8: 72,094,121 (GRCm39) Q1327* probably null Het
Vmn1r194 C T 13: 22,429,058 (GRCm39) T225I probably benign Het
Vmn1r215 T C 13: 23,260,721 (GRCm39) S254P probably damaging Het
Vmn2r109 T C 17: 20,775,451 (GRCm39) E92G probably damaging Het
Ythdc2 A G 18: 44,987,809 (GRCm39) M625V probably benign Het
Zfp106 A G 2: 120,341,015 (GRCm39) W1832R probably damaging Het
Zfp189 G A 4: 49,530,438 (GRCm39) G514S probably damaging Het
Zfp768 T C 7: 126,942,875 (GRCm39) R418G probably damaging Het
Zmynd11 C T 13: 9,739,479 (GRCm39) probably benign Het
Other mutations in Kcnn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Kcnn2 APN 18 45,725,303 (GRCm39) missense probably damaging 0.98
IGL00341:Kcnn2 APN 18 45,810,138 (GRCm39) splice site probably benign
IGL01317:Kcnn2 APN 18 45,693,694 (GRCm39) splice site probably null
IGL02121:Kcnn2 APN 18 45,694,340 (GRCm39) missense probably damaging 0.98
IGL02561:Kcnn2 APN 18 45,725,259 (GRCm39) missense possibly damaging 0.59
IGL03000:Kcnn2 APN 18 45,693,635 (GRCm39) missense probably damaging 0.97
IGL03116:Kcnn2 APN 18 45,788,273 (GRCm39) missense probably damaging 1.00
IGL03155:Kcnn2 APN 18 45,818,382 (GRCm39) missense probably damaging 0.99
IGL03289:Kcnn2 APN 18 45,810,111 (GRCm39) missense probably damaging 1.00
IGL03343:Kcnn2 APN 18 45,810,026 (GRCm39) missense probably damaging 0.97
jitter UTSW 18 45,694,320 (GRCm39) synonymous silent
I2288:Kcnn2 UTSW 18 45,808,340 (GRCm39) intron probably benign
R0256:Kcnn2 UTSW 18 45,725,472 (GRCm39) missense probably damaging 0.98
R0310:Kcnn2 UTSW 18 45,693,585 (GRCm39) missense probably damaging 1.00
R0464:Kcnn2 UTSW 18 45,693,426 (GRCm39) missense probably damaging 0.99
R0468:Kcnn2 UTSW 18 45,692,538 (GRCm39) missense possibly damaging 0.96
R0485:Kcnn2 UTSW 18 45,693,215 (GRCm39) missense probably benign 0.06
R0722:Kcnn2 UTSW 18 45,692,543 (GRCm39) missense possibly damaging 0.73
R0898:Kcnn2 UTSW 18 45,692,543 (GRCm39) missense possibly damaging 0.73
R1567:Kcnn2 UTSW 18 45,803,401 (GRCm39) splice site probably null
R4543:Kcnn2 UTSW 18 45,692,715 (GRCm39) missense probably benign 0.00
R4720:Kcnn2 UTSW 18 45,816,187 (GRCm39) missense possibly damaging 0.78
R4732:Kcnn2 UTSW 18 45,693,416 (GRCm39) missense possibly damaging 0.94
R4733:Kcnn2 UTSW 18 45,693,416 (GRCm39) missense possibly damaging 0.94
R4801:Kcnn2 UTSW 18 45,818,334 (GRCm39) splice site probably benign
R4844:Kcnn2 UTSW 18 45,816,187 (GRCm39) missense possibly damaging 0.78
R4927:Kcnn2 UTSW 18 45,692,798 (GRCm39) missense probably benign 0.01
R5108:Kcnn2 UTSW 18 45,725,122 (GRCm39) missense probably damaging 0.99
R5805:Kcnn2 UTSW 18 45,816,198 (GRCm39) missense probably damaging 0.98
R5841:Kcnn2 UTSW 18 45,692,463 (GRCm39) missense probably benign
R5888:Kcnn2 UTSW 18 45,725,412 (GRCm39) missense probably damaging 0.98
R5926:Kcnn2 UTSW 18 45,818,351 (GRCm39) missense probably benign 0.01
R6552:Kcnn2 UTSW 18 45,693,165 (GRCm39) missense probably benign 0.00
R6882:Kcnn2 UTSW 18 45,692,505 (GRCm39) missense possibly damaging 0.53
R6999:Kcnn2 UTSW 18 45,725,444 (GRCm39) missense probably damaging 0.99
R7324:Kcnn2 UTSW 18 45,693,138 (GRCm39) missense probably benign
R7509:Kcnn2 UTSW 18 45,816,187 (GRCm39) missense probably benign 0.32
R7667:Kcnn2 UTSW 18 45,692,505 (GRCm39) missense possibly damaging 0.53
R8064:Kcnn2 UTSW 18 45,692,426 (GRCm39) start codon destroyed probably benign 0.01
R8122:Kcnn2 UTSW 18 45,810,005 (GRCm39) missense probably damaging 0.99
R8730:Kcnn2 UTSW 18 45,725,139 (GRCm39) missense possibly damaging 0.75
R8768:Kcnn2 UTSW 18 45,692,502 (GRCm39) missense possibly damaging 0.53
R9183:Kcnn2 UTSW 18 45,694,379 (GRCm39) missense probably damaging 0.99
R9278:Kcnn2 UTSW 18 45,725,446 (GRCm39) missense probably damaging 0.96
R9597:Kcnn2 UTSW 18 45,816,149 (GRCm39) missense probably benign 0.16
R9773:Kcnn2 UTSW 18 45,788,365 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CGGGATGTAGATACTCGGGATG -3'
(R):5'- CGCTCAGCATTGTAGGAGACATG -3'

Sequencing Primer
(F):5'- TGTAGATACTCGGGATGTAGATACAC -3'
(R):5'- GACATGCTTGTCGTAGTTCTCC -3'
Posted On 2016-06-06