Incidental Mutation 'IGL03118:Kcnn3'
ID 409857
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Possibly essential (E-score: 0.514) question?
Stock # IGL03118
Quality Score
Status
Chromosome 3
Chromosomal Location 89427471-89579801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89574468 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 660 (L660Q)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
AlphaFold P58391
Predicted Effect probably damaging
Transcript: ENSMUST00000000811
AA Change: L660Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: L660Q

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124584
Coding Region Coverage
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 G A 17: 24,619,424 (GRCm39) G921S probably benign Het
Abca8b T C 11: 109,838,007 (GRCm39) T1082A possibly damaging Het
B9d2 T C 7: 25,380,901 (GRCm39) probably null Het
Bfsp1 T C 2: 143,669,253 (GRCm39) E442G possibly damaging Het
Bpifb5 C T 2: 154,078,673 (GRCm39) probably benign Het
Ccl1 A G 11: 82,068,896 (GRCm39) I47T probably damaging Het
Cln3 T C 7: 126,174,569 (GRCm39) I285V probably null Het
Cyp4a12b G T 4: 115,290,173 (GRCm39) R242I possibly damaging Het
Dcc T C 18: 71,553,344 (GRCm39) T771A probably benign Het
Erbb4 T C 1: 68,081,878 (GRCm39) D1052G probably benign Het
Fcnb T C 2: 27,966,630 (GRCm39) N301S probably benign Het
Gm28043 A C 17: 29,853,705 (GRCm39) E403A probably damaging Het
Gria4 A G 9: 4,793,804 (GRCm39) probably benign Het
Ighv5-12 T A 12: 113,666,198 (GRCm39) M1L probably benign Het
Il17rd A G 14: 26,815,352 (GRCm39) probably null Het
Lcor C T 19: 41,546,808 (GRCm39) P131S probably damaging Het
Leng1 T C 7: 3,668,409 (GRCm39) N13S probably damaging Het
Loxhd1 T C 18: 77,468,160 (GRCm39) V827A probably damaging Het
Mapk13 A G 17: 28,996,709 (GRCm39) Y208C probably benign Het
Mybpc3 T C 2: 90,954,848 (GRCm39) V453A probably damaging Het
Odam T C 5: 88,033,613 (GRCm39) S15P unknown Het
Or11l3 A T 11: 58,516,269 (GRCm39) V201D probably damaging Het
Or8d1 A T 9: 38,766,526 (GRCm39) H56L probably damaging Het
Pcdhb19 T C 18: 37,632,618 (GRCm39) probably benign Het
Per2 G T 1: 91,372,341 (GRCm39) Y244* probably null Het
Pik3ca A T 3: 32,514,084 (GRCm39) I857F probably damaging Het
Pold1 T A 7: 44,188,824 (GRCm39) I447F probably benign Het
Ppm1f T A 16: 16,731,942 (GRCm39) W131R probably null Het
Ppp2r2c A G 5: 37,083,660 (GRCm39) Y67C probably damaging Het
Psmb10 A T 8: 106,663,532 (GRCm39) H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 (GRCm39) A149V probably benign Het
Pygb T A 2: 150,662,731 (GRCm39) V566E probably benign Het
Rictor G A 15: 6,788,999 (GRCm39) R205Q possibly damaging Het
Ryr1 T A 7: 28,715,211 (GRCm39) R4638W unknown Het
Semp2l2a C T 8: 13,888,096 (GRCm39) probably benign Het
Septin3 G A 15: 82,168,715 (GRCm39) probably null Het
Serpina3b A T 12: 104,097,313 (GRCm39) D198V probably benign Het
Slc27a6 C A 18: 58,689,815 (GRCm39) H94N probably benign Het
Taf2 C T 15: 54,915,559 (GRCm39) V456M probably damaging Het
Tbpl2 T C 2: 23,977,301 (GRCm39) E238G probably benign Het
Ttn C T 2: 76,584,551 (GRCm39) V20440I possibly damaging Het
Zfp638 T A 6: 83,912,000 (GRCm39) probably benign Het
Zfp865 T C 7: 5,037,644 (GRCm39) 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
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
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
Posted On 2016-08-02