Incidental Mutation 'R7512:Kcnn1'
ID 582155
Institutional Source Beutler Lab
Gene Symbol Kcnn1
Ensembl Gene ENSMUSG00000002908
Gene Name potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1
Synonyms SK1
MMRRC Submission 045585-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7512 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 71294693-71315902 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 71307293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 200 (L200Q)
Ref Sequence ENSEMBL: ENSMUSP00000148615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110078] [ENSMUST00000110081] [ENSMUST00000212086] [ENSMUST00000212243] [ENSMUST00000212414] [ENSMUST00000212509] [ENSMUST00000212611]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000110078
AA Change: L157Q

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908
AA Change: L157Q

DomainStartEndE-ValueType
low complexity region 63 76 N/A INTRINSIC
Pfam:SK_channel 90 208 3.7e-59 PFAM
low complexity region 234 245 N/A INTRINSIC
Pfam:Ion_trans_2 275 369 9.6e-16 PFAM
CaMBD 382 461 1.99e-46 SMART
low complexity region 467 487 N/A INTRINSIC
low complexity region 507 516 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110081
AA Change: L157Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908
AA Change: L157Q

DomainStartEndE-ValueType
low complexity region 63 76 N/A INTRINSIC
Pfam:SK_channel 90 203 4.9e-51 PFAM
low complexity region 234 245 N/A INTRINSIC
Pfam:Ion_trans_2 274 368 1.7e-15 PFAM
CaMBD 382 462 3.71e-46 SMART
low complexity region 468 488 N/A INTRINSIC
low complexity region 508 517 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212084
Predicted Effect possibly damaging
Transcript: ENSMUST00000212086
AA Change: L200Q

PolyPhen 2 Score 0.641 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000212243
Predicted Effect probably benign
Transcript: ENSMUST00000212414
Predicted Effect possibly damaging
Transcript: ENSMUST00000212509
AA Change: L157Q

PolyPhen 2 Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000212611
AA Change: L157Q

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (59/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. This gene is a member of the KCNN family of potassium channel genes. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display normal hippocampal morphology and afterhyperpolarization currents. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C T 11: 109,829,275 (GRCm39) A1395T probably benign Het
Ank3 A G 10: 69,826,691 (GRCm39) K1787E Het
Atg2a C T 19: 6,310,106 (GRCm39) A1763V probably damaging Het
Bdp1 T C 13: 100,187,457 (GRCm39) I1637V probably benign Het
C1ra G A 6: 124,494,684 (GRCm39) E316K probably benign Het
Camsap3 A G 8: 3,648,740 (GRCm39) T20A probably benign Het
Ccnt2 T A 1: 127,730,031 (GRCm39) S303T possibly damaging Het
Cdh3 C T 8: 107,265,640 (GRCm39) Q228* probably null Het
Col19a1 C T 1: 24,356,788 (GRCm39) G632R probably damaging Het
Dock2 A C 11: 34,262,542 (GRCm39) C938G possibly damaging Het
Dync1i1 G T 6: 5,969,410 (GRCm39) V412L possibly damaging Het
Eif1ad6 G T 12: 87,668,751 (GRCm39) E128* probably null Het
Entrep2 C T 7: 64,805,918 (GRCm39) A52T probably benign Het
Fam185a G A 5: 21,652,356 (GRCm39) probably null Het
Fcho1 A G 8: 72,169,507 (GRCm39) L133P possibly damaging Het
Galnt12 G A 4: 47,108,406 (GRCm39) R181H possibly damaging Het
Gen1 A G 12: 11,310,977 (GRCm39) V85A possibly damaging Het
Gm12185 A T 11: 48,806,717 (GRCm39) I158K probably benign Het
Gm5624 T C 14: 44,799,312 (GRCm39) R82G Het
Grap2 A C 15: 80,532,754 (GRCm39) N307T probably benign Het
H6pd A G 4: 150,080,405 (GRCm39) F147L probably benign Het
Haspin A T 11: 73,027,418 (GRCm39) I557N probably damaging Het
Hectd4 A T 5: 121,435,172 (GRCm39) K961N possibly damaging Het
Helz2 A G 2: 180,872,647 (GRCm39) M2495T probably benign Het
Helz2 A T 2: 180,877,393 (GRCm39) probably null Het
Impdh1 T C 6: 29,207,168 (GRCm39) I59V probably benign Het
Kif5c T A 2: 49,590,977 (GRCm39) H276Q probably damaging Het
Kntc1 T C 5: 123,929,001 (GRCm39) L1259P probably damaging Het
Krtap4-1 A T 11: 99,518,859 (GRCm39) C50* probably null Het
Lat2 T A 5: 134,634,798 (GRCm39) D114V probably damaging Het
Lrrc41 A G 4: 115,950,191 (GRCm39) T535A possibly damaging Het
Ly75 A T 2: 60,164,907 (GRCm39) V757D probably damaging Het
Masp1 C A 16: 23,288,874 (GRCm39) R642L probably damaging Het
Morn3 A G 5: 123,175,343 (GRCm39) probably null Het
Mpl A T 4: 118,306,089 (GRCm39) I384N Het
Mtmr14 C T 6: 113,245,652 (GRCm39) Q409* probably null Het
Nek1 T A 8: 61,583,179 (GRCm39) D1272E probably benign Het
Oit3 T C 10: 59,274,716 (GRCm39) Y28C probably damaging Het
Or2z8 T A 8: 72,812,367 (GRCm39) I281N probably damaging Het
Or4x12-ps1 A G 2: 89,916,040 (GRCm39) I255T possibly damaging Het
Or5ac22 T A 16: 59,135,390 (GRCm39) N127Y probably damaging Het
Pcdh15 T C 10: 74,477,214 (GRCm39) Y186H possibly damaging Het
Pcdhgb1 T A 18: 37,815,418 (GRCm39) D636E probably damaging Het
Pdgfra A T 5: 75,355,675 (GRCm39) R1062* probably null Het
Pds5b T C 5: 150,711,807 (GRCm39) F922L probably damaging Het
Pip5k1c G A 10: 81,150,953 (GRCm39) probably null Het
Ppp2r3d T C 9: 101,052,532 (GRCm39) T226A possibly damaging Het
Ptprh G A 7: 4,574,780 (GRCm39) T413I possibly damaging Het
Rora C A 9: 69,281,367 (GRCm39) D382E probably benign Het
Sacs T A 14: 61,441,879 (GRCm39) N1308K probably benign Het
Sgce C T 6: 4,707,192 (GRCm39) D218N possibly damaging Het
Slc34a3 A T 2: 25,122,253 (GRCm39) probably null Het
Slit1 T C 19: 41,589,074 (GRCm39) Y1471C probably damaging Het
Smarca2 G T 19: 26,661,209 (GRCm39) V935L possibly damaging Het
Smchd1 T C 17: 71,688,364 (GRCm39) N1298S possibly damaging Het
Sort1 T A 3: 108,233,323 (GRCm39) probably null Het
Spata13 T C 14: 60,989,226 (GRCm39) L964P probably damaging Het
Spata31h1 G A 10: 82,128,469 (GRCm39) L1514F probably benign Het
Trav7-6 C A 14: 53,954,552 (GRCm39) D47E probably benign Het
Ubap2l A G 3: 89,917,803 (GRCm39) F864L unknown Het
Vmn2r102 C T 17: 19,914,363 (GRCm39) P643S probably damaging Het
Zfp112 T A 7: 23,824,604 (GRCm39) C195S possibly damaging Het
Zfp764l1 C T 7: 126,992,496 (GRCm39) C38Y probably null Het
Other mutations in Kcnn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Kcnn1 APN 8 71,300,706 (GRCm39) missense probably benign
IGL00498:Kcnn1 APN 8 71,305,524 (GRCm39) missense probably damaging 1.00
IGL00792:Kcnn1 APN 8 71,307,360 (GRCm39) missense probably benign 0.01
IGL03122:Kcnn1 APN 8 71,307,724 (GRCm39) missense probably damaging 1.00
IGL03137:Kcnn1 APN 8 71,303,381 (GRCm39) missense probably damaging 0.97
IGL03222:Kcnn1 APN 8 71,300,843 (GRCm39) missense probably damaging 1.00
IGL03226:Kcnn1 APN 8 71,299,135 (GRCm39) splice site probably benign
R0586:Kcnn1 UTSW 8 71,316,513 (GRCm39) unclassified probably benign
R1218:Kcnn1 UTSW 8 71,305,332 (GRCm39) missense probably benign 0.07
R1437:Kcnn1 UTSW 8 71,297,195 (GRCm39) missense probably benign 0.03
R1510:Kcnn1 UTSW 8 71,316,714 (GRCm39) unclassified probably benign
R2434:Kcnn1 UTSW 8 71,307,810 (GRCm39) small deletion probably benign
R2860:Kcnn1 UTSW 8 71,299,179 (GRCm39) missense probably benign 0.36
R2861:Kcnn1 UTSW 8 71,299,179 (GRCm39) missense probably benign 0.36
R4327:Kcnn1 UTSW 8 71,305,307 (GRCm39) missense probably damaging 0.99
R4807:Kcnn1 UTSW 8 71,300,822 (GRCm39) missense probably damaging 0.99
R4947:Kcnn1 UTSW 8 71,297,073 (GRCm39) missense probably benign 0.02
R5265:Kcnn1 UTSW 8 71,307,297 (GRCm39) missense probably benign 0.07
R5685:Kcnn1 UTSW 8 71,305,374 (GRCm39) missense probably damaging 1.00
R6108:Kcnn1 UTSW 8 71,307,800 (GRCm39) missense probably benign 0.27
R6523:Kcnn1 UTSW 8 71,299,169 (GRCm39) missense possibly damaging 0.57
R8219:Kcnn1 UTSW 8 71,305,499 (GRCm39) missense probably damaging 1.00
R8310:Kcnn1 UTSW 8 71,305,449 (GRCm39) missense possibly damaging 0.83
R8809:Kcnn1 UTSW 8 71,305,297 (GRCm39) critical splice donor site probably null
R9084:Kcnn1 UTSW 8 71,307,810 (GRCm39) small deletion probably benign
R9308:Kcnn1 UTSW 8 71,305,434 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCTCCTCAGCATCAAAGG -3'
(R):5'- GGGAAGCCACAGATACAGATCC -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- CCATCTGGGTGGCAATTGTCC -3'
Posted On 2019-10-17