Incidental Mutation 'R0619:Kcnn3'
ID 58517
Institutional Source Beutler Lab
Gene Symbol Kcnn3
Ensembl Gene ENSMUSG00000000794
Gene Name potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3
Synonyms SK3, small conductance calcium-activated potassium channel 3
MMRRC Submission 038808-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.514) question?
Stock # R0619 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89427471-89579801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 89559337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 536 (T536P)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
AlphaFold P58391
Predicted Effect probably damaging
Transcript: ENSMUST00000000811
AA Change: T536P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: T536P

DomainStartEndE-ValueType
low complexity region 30 96 N/A INTRINSIC
low complexity region 139 154 N/A INTRINSIC
low complexity region 213 224 N/A INTRINSIC
Pfam:SK_channel 270 383 3.1e-51 PFAM
Pfam:Ion_trans_2 462 548 2.2e-14 PFAM
CaMBD 562 638 1.04e-49 SMART
low complexity region 684 690 N/A INTRINSIC
low complexity region 718 731 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency
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. This gene belongs to the KCNN family of potassium channels. It encodes an integral membrane protein that forms a voltage-independent calcium-activated channel, which is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene contains two CAG repeat regions in the coding sequence. It was thought that expansion of one or both of these repeats could lead to an increased susceptibility to schizophrenia or bipolar disorder, but studies indicate that this is probably not the case. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for an insertion of a tetracycline-regulated gene switch display no overt phenotype when expression is abolished by doxycycline treatment; in contrast, untreated homozygotes show abnormal respiratory responses to hypoxia, impaired parturition, and pregnancy-related premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 G A 8: 120,339,739 (GRCm39) D74N probably benign Het
Adgre4 T A 17: 56,127,679 (GRCm39) V573D possibly damaging Het
Ak7 A G 12: 105,699,770 (GRCm39) K230E probably damaging Het
Amdhd2 T C 17: 24,375,562 (GRCm39) D375G possibly damaging Het
Anpep T C 7: 79,490,757 (GRCm39) E253G probably benign Het
Bbs7 A G 3: 36,661,725 (GRCm39) L158S probably benign Het
Bdp1 T C 13: 100,174,366 (GRCm39) T2057A probably benign Het
C2 G T 17: 35,091,479 (GRCm39) H61Q probably damaging Het
Ccdc18 A G 5: 108,328,282 (GRCm39) K661E probably benign Het
Cdh23 C T 10: 60,269,556 (GRCm39) V655I probably damaging Het
Cep78 T C 19: 15,956,226 (GRCm39) T238A probably damaging Het
Ces2a T A 8: 105,462,742 (GRCm39) N110K probably benign Het
Crat T C 2: 30,299,996 (GRCm39) D128G probably benign Het
Dclre1a A T 19: 56,533,841 (GRCm39) M233K probably benign Het
Dsg4 T C 18: 20,594,416 (GRCm39) V515A probably benign Het
Fer1l6 T C 15: 58,534,784 (GRCm39) probably null Het
Fryl T C 5: 73,226,074 (GRCm39) D1863G probably benign Het
Fsip2 T A 2: 82,774,484 (GRCm39) L57Q probably damaging Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
Iqsec1 T C 6: 90,647,388 (GRCm39) probably null Het
Kctd3 T C 1: 188,710,840 (GRCm39) D441G probably damaging Het
Kifc3 G A 8: 95,829,293 (GRCm39) T528M probably benign Het
Kmt2c G A 5: 25,503,914 (GRCm39) T3798I probably benign Het
Map1a T A 2: 121,135,736 (GRCm39) M1946K probably damaging Het
Mfhas1 T A 8: 36,057,829 (GRCm39) V768E probably benign Het
Mroh8 C A 2: 157,107,001 (GRCm39) V223F possibly damaging Het
Mss51 A T 14: 20,537,641 (GRCm39) V30E probably benign Het
Mtmr10 G A 7: 63,970,961 (GRCm39) R392H probably benign Het
Mup3 T C 4: 62,004,198 (GRCm39) N105S probably benign Het
Myh7b T C 2: 155,453,642 (GRCm39) M22T probably benign Het
Or1o2 T A 17: 37,543,046 (GRCm39) I72F possibly damaging Het
Or2aj5 T A 16: 19,425,022 (GRCm39) Y132F probably damaging Het
Or5m9 T A 2: 85,877,655 (GRCm39) Y276* probably null Het
Os9 A G 10: 126,956,860 (GRCm39) I43T probably damaging Het
Pkhd1l1 T C 15: 44,347,234 (GRCm39) L200P probably damaging Het
Ptpru C T 4: 131,548,198 (GRCm39) V100M possibly damaging Het
Rnf6 G A 5: 146,147,531 (GRCm39) R496C possibly damaging Het
Rsad1 C T 11: 94,433,465 (GRCm39) R407Q probably damaging Het
Rspo3 T C 10: 29,380,633 (GRCm39) D127G probably damaging Het
Sbf2 T A 7: 109,909,469 (GRCm39) T1760S possibly damaging Het
Sh2d3c T A 2: 32,643,037 (GRCm39) V588E probably damaging Het
Siglech A T 7: 55,418,910 (GRCm39) T238S probably benign Het
Slc15a2 T A 16: 36,579,669 (GRCm39) N328I probably damaging Het
Slc16a11 G T 11: 70,105,858 (GRCm39) G94C probably damaging Het
Stub1 T C 17: 26,050,296 (GRCm39) probably null Het
Tacc2 T A 7: 130,318,483 (GRCm39) V40D probably damaging Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Trappc14 A G 5: 138,262,088 (GRCm39) probably benign Het
Tsen54 A G 11: 115,705,890 (GRCm39) E69G probably damaging Het
Tsks A G 7: 44,600,258 (GRCm39) E150G probably damaging Het
Ubap2l A C 3: 89,924,527 (GRCm39) V680G probably benign Het
Usp16 A T 16: 87,269,052 (GRCm39) H315L probably benign Het
Vav2 A G 2: 27,186,133 (GRCm39) probably null Het
Zfc3h1 T C 10: 115,256,715 (GRCm39) F1562L possibly damaging Het
Zfp764 C A 7: 127,005,713 (GRCm39) V22L probably benign Het
Other mutations in Kcnn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02263:Kcnn3 APN 3 89,568,525 (GRCm39) missense possibly damaging 0.73
IGL02444:Kcnn3 APN 3 89,559,359 (GRCm39) missense possibly damaging 0.50
IGL02500:Kcnn3 APN 3 89,568,419 (GRCm39) splice site probably benign
IGL02814:Kcnn3 APN 3 89,428,482 (GRCm39) missense possibly damaging 0.94
IGL02821:Kcnn3 APN 3 89,428,281 (GRCm39) missense possibly damaging 0.91
IGL02821:Kcnn3 APN 3 89,570,029 (GRCm39) missense possibly damaging 0.84
IGL02852:Kcnn3 APN 3 89,516,923 (GRCm39) missense probably damaging 0.96
IGL02942:Kcnn3 APN 3 89,559,383 (GRCm39) missense probably benign 0.00
IGL03118:Kcnn3 APN 3 89,574,468 (GRCm39) missense probably damaging 1.00
R0015:Kcnn3 UTSW 3 89,570,080 (GRCm39) missense probably damaging 1.00
R0015:Kcnn3 UTSW 3 89,570,080 (GRCm39) missense probably damaging 1.00
R0032:Kcnn3 UTSW 3 89,427,972 (GRCm39) small deletion probably benign
R0370:Kcnn3 UTSW 3 89,574,399 (GRCm39) missense probably damaging 0.98
R1167:Kcnn3 UTSW 3 89,472,259 (GRCm39) nonsense probably null
R1255:Kcnn3 UTSW 3 89,559,416 (GRCm39) missense possibly damaging 0.84
R1643:Kcnn3 UTSW 3 89,427,804 (GRCm39) missense unknown
R1733:Kcnn3 UTSW 3 89,559,397 (GRCm39) missense probably benign 0.00
R1793:Kcnn3 UTSW 3 89,516,712 (GRCm39) missense probably benign 0.20
R1827:Kcnn3 UTSW 3 89,428,301 (GRCm39) missense possibly damaging 0.75
R1899:Kcnn3 UTSW 3 89,427,762 (GRCm39) start gained probably benign
R2055:Kcnn3 UTSW 3 89,428,682 (GRCm39) missense probably damaging 1.00
R2843:Kcnn3 UTSW 3 89,427,972 (GRCm39) small deletion probably benign
R2922:Kcnn3 UTSW 3 89,428,329 (GRCm39) missense probably damaging 1.00
R4078:Kcnn3 UTSW 3 89,568,495 (GRCm39) missense possibly damaging 0.68
R4227:Kcnn3 UTSW 3 89,428,482 (GRCm39) missense possibly damaging 0.94
R4604:Kcnn3 UTSW 3 89,427,727 (GRCm39) start gained probably benign
R4814:Kcnn3 UTSW 3 89,570,031 (GRCm39) missense probably damaging 1.00
R4822:Kcnn3 UTSW 3 89,574,596 (GRCm39) missense possibly damaging 0.93
R5175:Kcnn3 UTSW 3 89,516,746 (GRCm39) missense probably damaging 1.00
R5211:Kcnn3 UTSW 3 89,428,538 (GRCm39) missense probably benign 0.04
R5438:Kcnn3 UTSW 3 89,428,605 (GRCm39) missense probably damaging 1.00
R5496:Kcnn3 UTSW 3 89,516,797 (GRCm39) missense possibly damaging 0.95
R6244:Kcnn3 UTSW 3 89,552,830 (GRCm39) nonsense probably null
R7391:Kcnn3 UTSW 3 89,516,778 (GRCm39) missense probably benign 0.34
R7625:Kcnn3 UTSW 3 89,516,977 (GRCm39) missense probably damaging 0.99
R7834:Kcnn3 UTSW 3 89,428,661 (GRCm39) missense probably damaging 1.00
R8022:Kcnn3 UTSW 3 89,517,010 (GRCm39) missense possibly damaging 0.92
R8110:Kcnn3 UTSW 3 89,568,540 (GRCm39) missense probably damaging 0.99
R8220:Kcnn3 UTSW 3 89,568,548 (GRCm39) missense probably benign 0.14
R8787:Kcnn3 UTSW 3 89,552,757 (GRCm39) missense possibly damaging 0.93
R9124:Kcnn3 UTSW 3 89,428,536 (GRCm39) missense possibly damaging 0.47
R9256:Kcnn3 UTSW 3 89,574,407 (GRCm39) missense probably damaging 1.00
R9612:Kcnn3 UTSW 3 89,516,703 (GRCm39) missense probably benign 0.09
Z1088:Kcnn3 UTSW 3 89,574,437 (GRCm39) missense probably damaging 1.00
Z1177:Kcnn3 UTSW 3 89,568,443 (GRCm39) missense possibly damaging 0.72
Z1177:Kcnn3 UTSW 3 89,428,230 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCAAGAAGCATTGCAGACCC -3'
(R):5'- ACTCAAAGGAGCATTGCTAAGCCAC -3'

Sequencing Primer
(F):5'- GCGCAAGCAGGTTTTGAC -3'
(R):5'- TTGCTAAGCCACACCCG -3'
Posted On 2013-07-11