Incidental Mutation 'IGL03116:Kcnn2'
ID 419421
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 # IGL03116
Quality Score
Status
Chromosome 18
Chromosomal Location 45401927-45819091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 45788273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 192 (D192V)
Ref Sequence ENSEMBL: ENSMUSP00000129659 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066890] [ENSMUST00000169783] [ENSMUST00000183850] [ENSMUST00000211323]
AlphaFold P58390
Predicted Effect probably damaging
Transcript: ENSMUST00000066890
AA Change: D597V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: D597V

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 damaging
Transcript: ENSMUST00000169783
AA Change: D192V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129659
Gene: ENSMUSG00000054477
AA Change: D192V

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: D332V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477
AA Change: D332V

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: ENSMUST00000184101
Predicted Effect probably damaging
Transcript: ENSMUST00000211323
AA Change: D332V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik T C X: 12,535,892 (GRCm39) probably benign Het
9530068E07Rik A G 11: 52,294,331 (GRCm39) I199V probably benign Het
Aasdh A T 5: 77,049,936 (GRCm39) probably null Het
Aatk T C 11: 119,907,577 (GRCm39) I84V probably benign Het
Adcy1 A G 11: 7,100,071 (GRCm39) H727R probably benign Het
Aff2 T C X: 68,878,092 (GRCm39) V626A probably benign Het
Ano2 C A 6: 125,957,134 (GRCm39) Y634* probably null Het
Apob C A 12: 8,066,350 (GRCm39) Q4407K probably damaging Het
Asz1 T C 6: 18,076,642 (GRCm39) probably benign Het
Atp2b4 T G 1: 133,656,506 (GRCm39) T715P possibly damaging Het
Brip1 G T 11: 85,955,735 (GRCm39) S926* probably null Het
Cpd A T 11: 76,702,539 (GRCm39) Y610N probably damaging Het
Dennd4c T C 4: 86,707,057 (GRCm39) probably benign Het
Dido1 G A 2: 180,312,772 (GRCm39) T1041I probably damaging Het
Dpp8 A T 9: 64,973,749 (GRCm39) T658S probably damaging Het
Efcab3 T A 11: 104,612,359 (GRCm39) S661T probably benign Het
Fcer1a G A 1: 173,049,128 (GRCm39) Q172* probably null Het
Frem3 A G 8: 81,339,435 (GRCm39) E576G possibly damaging Het
Gcsam T C 16: 45,440,431 (GRCm39) F136S possibly damaging Het
Glmn T G 5: 107,698,949 (GRCm39) T430P probably damaging Het
Gm5934 T C X: 24,340,931 (GRCm39) N194S probably benign Het
Gpatch11 T A 17: 79,151,282 (GRCm39) L231* probably null Het
Hibadh A T 6: 52,525,917 (GRCm39) N244K probably damaging Het
Kank2 A G 9: 21,684,060 (GRCm39) V723A probably damaging Het
Ksr2 G A 5: 117,846,022 (GRCm39) E630K probably benign Het
Lmod3 T C 6: 97,224,156 (GRCm39) H555R possibly damaging Het
Mycs A G X: 5,380,922 (GRCm39) F53L probably damaging Het
Ndufa10 G A 1: 92,392,109 (GRCm39) Q215* probably null Het
Ninl C T 2: 150,806,139 (GRCm39) A361T probably damaging Het
Pbsn A G X: 76,891,624 (GRCm39) C58R probably damaging Het
Pcsk1 T A 13: 75,280,335 (GRCm39) L720Q probably damaging Het
Prss12 T C 3: 123,299,925 (GRCm39) F679L probably benign Het
Sohlh1 C T 2: 25,735,660 (GRCm39) probably null Het
Sspo T C 6: 48,471,035 (GRCm39) F701L probably benign Het
Tdp1 T C 12: 99,921,290 (GRCm39) S609P probably benign Het
Tmtc4 T A 14: 123,165,044 (GRCm39) N605I probably benign Het
Tnc G A 4: 63,932,270 (GRCm39) P715S probably damaging Het
Ubn2 T C 6: 38,468,834 (GRCm39) S1181P probably damaging Het
Ubr4 T C 4: 139,206,892 (GRCm39) probably benign Het
Vmn1r46 T C 6: 89,953,898 (GRCm39) F249S probably benign Het
Zfp382 T C 7: 29,833,614 (GRCm39) S422P probably damaging 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
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