Incidental Mutation 'IGL00087:Kcnn2'
ID 306479
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # IGL00087
Quality Score
Status
Chromosome 18
Chromosomal Location 45401927-45819091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 45725303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 266 (R266S)
Ref Sequence ENSEMBL: ENSMUSP00000148153 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066890] [ENSMUST00000169783] [ENSMUST00000183850] [ENSMUST00000211323]
AlphaFold P58390
Predicted Effect probably damaging
Transcript: ENSMUST00000066890
AA Change: R531S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: R531S

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 probably benign
Transcript: ENSMUST00000169783
SMART Domains Protein: ENSMUSP00000129659
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 115 215 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: R266S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: R266S

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: ENSMUST00000183897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184101
Predicted Effect probably damaging
Transcript: ENSMUST00000211323
AA Change: R266S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik C A 3: 121,473,282 (GRCm39) probably benign Het
Actr2 C A 11: 20,044,370 (GRCm39) V79L probably benign Het
Ankrd36 A C 11: 5,570,131 (GRCm39) Y533S probably benign Het
Btnl1 A T 17: 34,600,091 (GRCm39) D198V probably damaging Het
Carmil2 T A 8: 106,418,038 (GRCm39) I684N probably benign Het
Cdk17 T A 10: 93,062,633 (GRCm39) V257D probably damaging Het
Ctsj T G 13: 61,149,232 (GRCm39) S271R possibly damaging Het
Cul9 T A 17: 46,836,635 (GRCm39) Q1130L probably damaging Het
Daam1 G T 12: 71,988,993 (GRCm39) S131I unknown Het
Dab1 G A 4: 104,536,007 (GRCm39) V139M probably damaging Het
Dab1 A T 4: 104,535,950 (GRCm39) I120F possibly damaging Het
Dnah2 A G 11: 69,383,498 (GRCm39) V1142A possibly damaging Het
Dsg1b C T 18: 20,529,533 (GRCm39) T326I probably damaging Het
Eif3k A C 7: 28,674,101 (GRCm39) probably benign Het
Fam76b T C 9: 13,748,180 (GRCm39) V3A possibly damaging Het
Fitm2 A G 2: 163,311,712 (GRCm39) V167A probably benign Het
Gfap T A 11: 102,779,544 (GRCm39) I418F possibly damaging Het
Grm5 T C 7: 87,779,989 (GRCm39) V1143A probably benign Het
Itpr2 A G 6: 146,298,510 (GRCm39) I317T probably damaging Het
Itprid1 T A 6: 55,945,022 (GRCm39) L581Q possibly damaging Het
Kntc1 T A 5: 123,928,222 (GRCm39) S1240T probably benign Het
Lmnb2 T C 10: 80,739,871 (GRCm39) D490G possibly damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Pax9 A G 12: 56,746,860 (GRCm39) N232S probably benign Het
Pdcd6ip A G 9: 113,526,586 (GRCm39) S108P possibly damaging Het
Pitpnc1 T C 11: 107,103,469 (GRCm39) E210G possibly damaging Het
Prdm10 T C 9: 31,272,108 (GRCm39) probably benign Het
Prl4a1 G A 13: 28,205,443 (GRCm39) G136E probably damaging Het
Pstpip2 A G 18: 77,961,994 (GRCm39) S255G probably benign Het
Rimbp3 T G 16: 17,027,607 (GRCm39) S344A probably benign Het
Rint1 A G 5: 23,999,429 (GRCm39) T73A probably benign Het
Rnf145 T C 11: 44,446,039 (GRCm39) V291A possibly damaging Het
Rrm1 T A 7: 102,103,714 (GRCm39) L221* probably null Het
Scn11a A G 9: 119,599,572 (GRCm39) L1114P probably benign Het
Slc44a4 A G 17: 35,149,216 (GRCm39) probably benign Het
Sorl1 A C 9: 41,885,390 (GRCm39) N2070K probably damaging Het
Spaca7 C T 8: 12,630,941 (GRCm39) probably benign Het
Speer1k C T 5: 10,997,805 (GRCm39) probably benign Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Srsf6 G T 2: 162,773,627 (GRCm39) V13F probably damaging Het
Stab1 G T 14: 30,883,314 (GRCm39) T336N probably benign Het
Strbp A G 2: 37,476,516 (GRCm39) probably benign Het
Tbc1d4 A G 14: 101,845,548 (GRCm39) F117L probably damaging Het
Tcf20 A G 15: 82,739,096 (GRCm39) V785A probably damaging Het
Ticrr A G 7: 79,327,031 (GRCm39) K580E probably damaging Het
Ubr4 A T 4: 139,192,633 (GRCm39) E4225D possibly damaging Het
Uck1 A T 2: 32,149,681 (GRCm39) V66D probably damaging Het
Vmn2r25 A G 6: 123,830,130 (GRCm39) F7S probably benign Het
Zan C T 5: 137,386,082 (GRCm39) probably null Het
Zfp819 T A 7: 43,261,403 (GRCm39) probably benign Het
Other mutations in Kcnn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5011:Kcnn2 UTSW 18 45,818,352 (GRCm39) missense possibly damaging 0.86
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
Posted On 2015-04-16