Incidental Mutation 'IGL03000:Kcnn2'
ID 407290
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 # IGL03000
Quality Score
Status
Chromosome 18
Chromosomal Location 45401927-45819091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45693635 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 404 (F404L)
Ref Sequence ENSEMBL: ENSMUSP00000067884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066890] [ENSMUST00000169783] [ENSMUST00000183850] [ENSMUST00000211323]
AlphaFold P58390
Predicted Effect probably damaging
Transcript: ENSMUST00000066890
AA Change: F404L

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: F404L

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
AA Change: F139L

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129659
Gene: ENSMUSG00000054477
AA Change: F139L

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: F139L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: F139L

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 benign
Transcript: ENSMUST00000211323
AA Change: F139L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,360,959 (GRCm39) S445G probably benign Het
Abca5 C T 11: 110,208,640 (GRCm39) V226I probably benign Het
Ankrd34c A T 9: 89,611,239 (GRCm39) D367E probably benign Het
Bmp6 G T 13: 38,682,887 (GRCm39) probably benign Het
Cacna2d2 T C 9: 107,401,397 (GRCm39) probably null Het
Cblb T G 16: 52,024,905 (GRCm39) D933E probably damaging Het
Ccny A G 18: 9,353,489 (GRCm39) S95P probably benign Het
Cep192 A G 18: 67,985,115 (GRCm39) I1658V probably damaging Het
Cntn6 A T 6: 104,781,347 (GRCm39) T478S probably damaging Het
Cpne7 T C 8: 123,853,435 (GRCm39) F247L probably benign Het
Csf1r A G 18: 61,242,724 (GRCm39) E29G probably damaging Het
Dctn3 T A 4: 41,719,912 (GRCm39) I65F possibly damaging Het
Dock1 A G 7: 134,390,969 (GRCm39) E743G probably benign Het
Dus2 C A 8: 106,775,316 (GRCm39) T281N probably damaging Het
Gbx1 G T 5: 24,709,924 (GRCm39) T307K probably benign Het
Gtf2ird2 A T 5: 134,223,745 (GRCm39) N93I probably benign Het
Heatr1 A G 13: 12,449,292 (GRCm39) D1930G probably damaging Het
Hif3a T C 7: 16,782,564 (GRCm39) I334V probably benign Het
Ints1 G T 5: 139,752,261 (GRCm39) N756K probably benign Het
Kmt2c G A 5: 25,489,170 (GRCm39) R4590W probably damaging Het
Limk1 A T 5: 134,699,355 (GRCm39) V134E probably damaging Het
Mep1a A G 17: 43,785,881 (GRCm39) V736A probably benign Het
Mex3a T A 3: 88,443,602 (GRCm39) I226N probably damaging Het
Mgl2 A T 11: 70,025,026 (GRCm39) K16* probably null Het
Mms22l G T 4: 24,581,161 (GRCm39) V864L probably damaging Het
Mroh4 T A 15: 74,487,963 (GRCm39) M320L probably benign Het
Mylk3 G A 8: 86,085,806 (GRCm39) P243S probably damaging Het
Nbea A C 3: 55,912,048 (GRCm39) D1246E possibly damaging Het
Ndnf A G 6: 65,680,299 (GRCm39) T193A possibly damaging Het
Nfasc T C 1: 132,549,247 (GRCm39) probably benign Het
Or6k8-ps1 A G 1: 173,979,126 (GRCm39) T15A probably benign Het
Ptprq A T 10: 107,378,518 (GRCm39) F2008I probably damaging Het
Rhag A G 17: 41,139,413 (GRCm39) K116R probably benign Het
Rictor T A 15: 6,798,721 (GRCm39) probably benign Het
Slc35f5 C A 1: 125,502,479 (GRCm39) T277N probably damaging Het
Sorcs2 A G 5: 36,222,675 (GRCm39) probably benign Het
Ssh2 T A 11: 77,312,032 (GRCm39) probably benign Het
Togaram2 T C 17: 72,024,365 (GRCm39) S830P probably benign Het
Trim30d T C 7: 104,122,476 (GRCm39) T112A probably benign Het
Ttc34 T C 4: 154,949,888 (GRCm39) V947A probably damaging Het
Ttn A G 2: 76,642,953 (GRCm39) probably benign Het
Ubr5 A T 15: 38,025,096 (GRCm39) V560D probably damaging Het
Ush2a A T 1: 188,282,053 (GRCm39) E1856V possibly damaging Het
Zfp142 T C 1: 74,612,777 (GRCm39) M457V probably benign Het
Zfp711 C T X: 111,534,555 (GRCm39) Q137* probably null Het
Zkscan17 T C 11: 59,377,986 (GRCm39) Y399C probably damaging Het
Zswim6 T G 13: 107,863,649 (GRCm39) noncoding transcript Het
Zswim6 T A 13: 107,863,650 (GRCm39) noncoding transcript 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
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 2016-08-02