Incidental Mutation 'R2055:Kcnn3'
ID 226571
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 040060-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.514) question?
Stock # R2055 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 89427471-89579801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89428682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 303 (T303A)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
AlphaFold P58391
Predicted Effect probably damaging
Transcript: ENSMUST00000000811
AA Change: T303A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: T303A

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
Meta Mutation Damage Score 0.2353 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (74/74)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T C 5: 138,561,107 (GRCm39) E185G probably damaging Het
3425401B19Rik A G 14: 32,384,508 (GRCm39) S486P probably benign Het
A630023A22Rik T C 14: 33,774,707 (GRCm39) probably benign Het
Abca1 T C 4: 53,069,881 (GRCm39) N1271S probably benign Het
AI597479 C T 1: 43,150,280 (GRCm39) A130V probably benign Het
Angptl4 A G 17: 33,999,498 (GRCm39) probably null Het
Arhgef25 T A 10: 127,021,004 (GRCm39) N294I probably damaging Het
Atp2b1 T C 10: 98,850,421 (GRCm39) V848A probably damaging Het
Bard1 T C 1: 71,114,031 (GRCm39) T317A probably benign Het
C1rl T C 6: 124,470,781 (GRCm39) W30R probably benign Het
Cchcr1 A G 17: 35,837,317 (GRCm39) E379G probably damaging Het
Cfap36 G T 11: 29,197,122 (GRCm39) A3E probably damaging Het
Cilp G A 9: 65,186,997 (GRCm39) G1031S probably damaging Het
Clca4a A G 3: 144,676,489 (GRCm39) Y64H probably damaging Het
Cops5 A G 1: 10,102,562 (GRCm39) probably null Het
Cracr2a G T 6: 127,585,564 (GRCm39) E121* probably null Het
Cstf1 A G 2: 172,222,403 (GRCm39) E387G probably benign Het
D630044L22Rik A C 17: 26,180,951 (GRCm39) D733E probably damaging Het
Dlc1 A T 8: 37,060,535 (GRCm39) C514S probably damaging Het
Dmwd G T 7: 18,810,610 (GRCm39) R139L probably benign Het
Dnah17 A T 11: 117,958,357 (GRCm39) S2709T probably benign Het
Dnmt3a T C 12: 3,922,859 (GRCm39) I154T probably benign Het
Dpp7 T C 2: 25,244,490 (GRCm39) N297S possibly damaging Het
Ern2 A T 7: 121,783,168 (GRCm39) V34D possibly damaging Het
Erp27 A G 6: 136,885,227 (GRCm39) probably benign Het
F2 T C 2: 91,458,787 (GRCm39) T508A probably benign Het
Fam181b A G 7: 92,729,634 (GRCm39) T136A probably benign Het
Fam227b C A 2: 125,942,874 (GRCm39) V308L probably benign Het
Fbxw20 A T 9: 109,050,442 (GRCm39) H394Q probably damaging Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Glt8d1 T G 14: 30,731,693 (GRCm39) S111A probably benign Het
Gm11146 A T 16: 77,391,969 (GRCm39) probably benign Het
Grip1 C T 10: 119,885,416 (GRCm39) probably benign Het
H2-Q2 A T 17: 35,564,247 (GRCm39) T334S probably benign Het
Hcrtr1 A G 4: 130,024,680 (GRCm39) V402A probably benign Het
Hmcn2 C A 2: 31,268,294 (GRCm39) A1130D probably benign Het
Hsd17b2 T C 8: 118,428,913 (GRCm39) L60P possibly damaging Het
Htr1f A T 16: 64,746,398 (GRCm39) I298N probably damaging Het
Ighmbp2 G T 19: 3,315,095 (GRCm39) A775D probably benign Het
Kiz C A 2: 146,733,203 (GRCm39) Q460K probably benign Het
Krt75 C T 15: 101,481,196 (GRCm39) V193I probably benign Het
Lsp1 G A 7: 142,043,144 (GRCm39) probably null Het
Mfsd12 A G 10: 81,196,063 (GRCm39) H146R probably damaging Het
Mmp23 T C 4: 155,736,444 (GRCm39) K199R possibly damaging Het
Naip2 A G 13: 100,315,880 (GRCm39) V300A probably benign Het
Nbeal1 C T 1: 60,350,216 (GRCm39) L2422F probably damaging Het
Nbeal2 G T 9: 110,464,375 (GRCm39) D1094E possibly damaging Het
Nckap5 T C 1: 125,954,635 (GRCm39) E639G probably damaging Het
Nr4a3 A G 4: 48,067,771 (GRCm39) I456V possibly damaging Het
Or2t43 A G 11: 58,457,673 (GRCm39) F166S probably damaging Het
Parp9 G T 16: 35,773,984 (GRCm39) V86L probably damaging Het
Phactr1 A G 13: 43,231,416 (GRCm39) N386S probably damaging Het
Pold2 A T 11: 5,823,516 (GRCm39) Y304* probably null Het
Pou5f2 A G 13: 78,173,940 (GRCm39) Y294C probably benign Het
Rars1 A G 11: 35,717,410 (GRCm39) probably benign Het
Rbm12b1 A G 4: 12,145,606 (GRCm39) E526G probably benign Het
Sacs T C 14: 61,451,498 (GRCm39) Y4515H probably damaging Het
Sdk2 C A 11: 113,741,780 (GRCm39) R813L probably damaging Het
Six5 T C 7: 18,829,154 (GRCm39) V198A possibly damaging Het
Slco1a7 A T 6: 141,671,181 (GRCm39) H430Q probably benign Het
Spata31e2 A T 1: 26,724,813 (GRCm39) N122K possibly damaging Het
Spn A G 7: 126,736,388 (GRCm39) S40P probably damaging Het
Ssr1 A G 13: 38,171,761 (GRCm39) probably benign Het
Tlr6 C A 5: 65,111,269 (GRCm39) C546F probably damaging Het
Top1 T A 2: 160,544,748 (GRCm39) probably benign Het
Trhr2 A G 8: 123,085,532 (GRCm39) S151P probably damaging Het
Tubb2b T G 13: 34,311,708 (GRCm39) K362Q probably benign Het
Unc13c T C 9: 73,643,832 (GRCm39) T1211A probably damaging Het
Vmn1r15 T C 6: 57,235,729 (GRCm39) V199A possibly damaging Het
Vnn1 A G 10: 23,776,475 (GRCm39) probably benign Het
Vps41 T A 13: 19,038,786 (GRCm39) N737K possibly damaging Het
Vps50 T A 6: 3,522,265 (GRCm39) N144K probably benign Het
Zc3h7a A T 16: 10,955,340 (GRCm39) N911K probably benign Het
Zkscan7 T A 9: 122,718,002 (GRCm39) S132R probably damaging 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
R0619:Kcnn3 UTSW 3 89,559,337 (GRCm39) missense probably damaging 1.00
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
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'- TCCAGGGAGGATAACCATGC -3'
(R):5'- AAAGGAATTCTCACAGGACCATG -3'

Sequencing Primer
(F):5'- GGGAGGATAACCATGCCCACC -3'
(R):5'- TTCTCACAGGACCATGGAAGAAAAAC -3'
Posted On 2014-09-17