Incidental Mutation 'R8768:Kcnn2'
ID 664265
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 068623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R8768 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 45401927-45819091 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 45692502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 26 (S26L)
Ref Sequence ENSEMBL: ENSMUSP00000067884 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066890] [ENSMUST00000169783] [ENSMUST00000183850] [ENSMUST00000211323]
AlphaFold P58390
Predicted Effect possibly damaging
Transcript: ENSMUST00000066890
AA Change: S26L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067884
Gene: ENSMUSG00000054477
AA Change: S26L

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
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 benign
Transcript: ENSMUST00000183850
SMART Domains Protein: ENSMUSP00000139350
Gene: ENSMUSG00000054477

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 probably benign
Transcript: ENSMUST00000211323
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 99% (76/77)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr1b A T 1: 36,740,588 (GRCm39) C222S probably benign Het
Actrt3 T G 3: 30,651,992 (GRCm39) R367S probably damaging Het
Alg1 T C 16: 5,060,416 (GRCm39) V379A probably damaging Het
Ankrd36 A G 11: 5,593,763 (GRCm39) E456G probably benign Het
Arhgef33 G T 17: 80,681,148 (GRCm39) A763S possibly damaging Het
Armc5 T G 7: 127,841,783 (GRCm39) V597G probably benign Het
Asb10 G T 5: 24,738,690 (GRCm39) R456S probably damaging Het
Asph A G 4: 9,453,417 (GRCm39) F702L probably damaging Het
Atf7 T A 15: 102,449,324 (GRCm39) T326S probably benign Het
Atxn7l2 T C 3: 108,114,250 (GRCm39) N171D probably benign Het
BC049715 T A 6: 136,816,979 (GRCm39) M73K possibly damaging Het
C2cd6 A G 1: 59,105,312 (GRCm39) V322A probably benign Het
Cadps2 A C 6: 23,382,938 (GRCm39) C807W probably damaging Het
Ccdc57 C T 11: 120,788,788 (GRCm39) R353H probably benign Het
Ccdc89 T C 7: 90,075,793 (GRCm39) M1T probably null Het
Cntn1 G A 15: 92,132,347 (GRCm39) V148M probably damaging Het
Csmd3 T A 15: 47,561,572 (GRCm39) I1335F Het
Dap3 A G 3: 88,834,334 (GRCm39) M294T probably damaging Het
Dbh A G 2: 27,060,328 (GRCm39) D168G probably benign Het
Dchs2 C A 3: 83,253,592 (GRCm39) A2334E probably benign Het
Dcun1d4 T A 5: 73,678,310 (GRCm39) Y102N probably benign Het
Dhtkd1 T C 2: 5,903,533 (GRCm39) T918A probably benign Het
Dmgdh C T 13: 93,825,118 (GRCm39) T147I possibly damaging Het
Dmxl2 T G 9: 54,301,105 (GRCm39) K2335N possibly damaging Het
Efna5 T C 17: 63,188,125 (GRCm39) M1V probably null Het
Fpr-rs3 T C 17: 20,844,944 (GRCm39) N66D probably damaging Het
Gas2l2 C A 11: 83,313,999 (GRCm39) A438S probably benign Het
Hivep3 T C 4: 119,989,521 (GRCm39) S1991P probably damaging Het
Hsp90b1 A T 10: 86,541,169 (GRCm39) probably null Het
Iars1 T A 13: 49,878,102 (GRCm39) N875K probably damaging Het
Jag1 A C 2: 136,943,521 (GRCm39) M225R possibly damaging Het
Jag1 T C 2: 136,932,708 (GRCm39) probably benign Het
Kctd2 T C 11: 115,311,279 (GRCm39) S96P probably damaging Het
Klhl25 A G 7: 75,516,359 (GRCm39) N422D probably damaging Het
Lhx8 A T 3: 154,027,886 (GRCm39) V222E possibly damaging Het
Lrig1 A T 6: 94,631,840 (GRCm39) V120D possibly damaging Het
Manba T A 3: 135,256,995 (GRCm39) S553T probably damaging Het
Mllt10 T A 2: 18,167,583 (GRCm39) S503T probably damaging Het
Nxpe4 A G 9: 48,304,050 (GRCm39) N46D probably benign Het
Or1l4b C T 2: 37,037,016 (GRCm39) S264L probably benign Het
Or8b50 A C 9: 38,518,441 (GRCm39) K227Q probably benign Het
Pdzd2 C T 15: 12,437,252 (GRCm39) E450K probably damaging Het
Phrf1 T A 7: 140,838,651 (GRCm39) F615L unknown Het
Plch2 C A 4: 155,083,324 (GRCm39) G538V probably damaging Het
Ppp2r2d T A 7: 138,475,897 (GRCm39) I235N probably damaging Het
Prdm15 A T 16: 97,638,888 (GRCm39) D57E probably benign Het
Psd3 T C 8: 68,417,003 (GRCm39) D45G probably damaging Het
Ptger4 T A 15: 5,272,138 (GRCm39) R185S probably benign Het
Ptp4a2 T A 4: 129,740,299 (GRCm39) M121K probably damaging Het
Ptpre T G 7: 135,283,306 (GRCm39) F659V possibly damaging Het
Rad54l2 T G 9: 106,596,809 (GRCm39) D199A probably benign Het
Rap1gds1 T C 3: 138,647,521 (GRCm39) M556V probably benign Het
Scaf8 T C 17: 3,243,349 (GRCm39) V711A probably benign Het
Sesn3 G A 9: 14,225,964 (GRCm39) C233Y probably damaging Het
Slc45a1 T A 4: 150,714,206 (GRCm39) I680F probably damaging Het
Slco1a6 C T 6: 142,078,897 (GRCm39) V133M probably benign Het
Syt6 T C 3: 103,492,850 (GRCm39) L119P probably benign Het
Szt2 A C 4: 118,226,613 (GRCm39) S2974R unknown Het
Taok1 A T 11: 77,444,712 (GRCm39) H454Q probably damaging Het
Tbx10 G A 19: 4,047,303 (GRCm39) V136M probably damaging Het
Tespa1 A G 10: 130,198,027 (GRCm39) T350A probably benign Het
Tnks1bp1 T A 2: 84,900,980 (GRCm39) Y1562* probably null Het
Trank1 T A 9: 111,218,344 (GRCm39) F1908Y probably benign Het
Trav6d-4 A T 14: 52,991,243 (GRCm39) H96L possibly damaging Het
Tspoap1 T C 11: 87,669,197 (GRCm39) I1490T probably benign Het
Ttc21a T C 9: 119,770,286 (GRCm39) F119S probably damaging Het
Ttll3 T G 6: 113,385,949 (GRCm39) M594R probably damaging Het
Ttn T A 2: 76,798,790 (GRCm39) R495* probably null Het
Twf1 A C 15: 94,479,110 (GRCm39) L250V probably damaging Het
Ubr4 A T 4: 139,149,076 (GRCm39) E458D Het
Unc50 T C 1: 37,476,244 (GRCm39) F135L probably benign Het
Vwa3a T A 7: 120,375,299 (GRCm39) I371N probably damaging Het
Zfp180 T C 7: 23,805,161 (GRCm39) S527P probably damaging Het
Zfp512 T A 5: 31,630,882 (GRCm39) I408N probably damaging Het
Zfp57 A G 17: 37,317,077 (GRCm39) T52A probably benign Het
Zranb2 A G 3: 157,247,327 (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
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
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'- AATTCCTGCCTTGGAGTGCC -3'
(R):5'- AGCAGCAGGGACAGGTTATC -3'

Sequencing Primer
(F):5'- CCCAGGGGTTTTCATTCTGCAG -3'
(R):5'- ACGGCTTGTCCTGGCTCTG -3'
Posted On 2021-03-08