Incidental Mutation 'IGL02821:Kcnn3'
ID361016
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnn3
Ensembl Gene ENSMUSG00000000794
Gene Namepotassium intermediate/small conductance calcium-activated channel, subfamily N, member 3
Synonymssmall conductance calcium-activated potassium channel 3, SK3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.396) question?
Stock #IGL02821
Quality Score
Status
Chromosome3
Chromosomal Location89520164-89675132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 89662722 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Aspartic acid at position 614 (G614D)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000811
AA Change: G614D

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: G614D

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik G A 5: 5,452,039 Q138* probably null Het
1700025F22Rik A G 19: 11,141,533 *71Q probably null Het
4930474N05Rik T C 14: 36,096,516 L157S probably benign Het
Adam15 A G 3: 89,345,356 S309P probably damaging Het
Agtpbp1 A T 13: 59,482,601 M772K possibly damaging Het
Ankfn1 T C 11: 89,391,616 M402V probably benign Het
Anln G A 9: 22,358,122 T822I possibly damaging Het
Atp13a4 A G 16: 29,441,307 V589A probably benign Het
Ccm2l C T 2: 153,067,859 L44F probably damaging Het
Cd177 G T 7: 24,744,394 L760M probably damaging Het
Cd177 A T 7: 24,744,393 L760Q probably damaging Het
Cfap69 T C 5: 5,664,017 E5G probably benign Het
Col4a1 G A 8: 11,221,375 T753I probably benign Het
Col6a3 T A 1: 90,803,878 D1551V probably damaging Het
Ddx20 A G 3: 105,679,277 V584A probably benign Het
Dopey1 C A 9: 86,520,156 H1136Q probably benign Het
Egf T C 3: 129,702,479 E329G probably damaging Het
Eif3c A G 7: 126,558,659 V337A probably benign Het
Eif3f G T 7: 108,934,674 probably benign Het
Eif3f C T 7: 108,934,675 probably benign Het
Evc T A 5: 37,326,396 I187F probably benign Het
Fam117a T G 11: 95,363,989 probably benign Het
H2-M10.4 A T 17: 36,460,431 V285E probably damaging Het
Hps4 G T 5: 112,375,441 M608I probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Itgam A T 7: 128,076,109 M169L probably damaging Het
Mn1 A T 5: 111,421,851 K1229M probably damaging Het
Nckap5 A G 1: 126,027,816 M401T probably damaging Het
Olfr366 T C 2: 37,220,100 S204P probably damaging Het
Olfr891 T C 9: 38,180,668 N52D possibly damaging Het
Olfr985 T G 9: 40,127,265 E232A probably benign Het
Sim2 G A 16: 94,097,188 V94M probably damaging Het
Slc46a3 G A 5: 147,886,012 T340M probably benign Het
Ssc4d A G 5: 135,966,069 probably benign Het
Tcrg-V4 T A 13: 19,185,252 D55E possibly damaging Het
Trav12-1 A G 14: 53,538,459 D22G probably damaging Het
Trps1 G A 15: 50,660,877 T969M probably damaging Het
Ttn T A 2: 76,889,550 probably benign Het
Ubqln4 A G 3: 88,563,151 N310S probably benign Het
Vapa T C 17: 65,582,761 probably benign Het
Vmn1r65 T C 7: 6,008,894 T114A possibly damaging Het
Vps13d T C 4: 145,148,762 E1725G probably damaging Het
Vps53 A G 11: 76,136,317 probably benign Het
Xkr9 T C 1: 13,672,575 L28P probably damaging Het
Other mutations in Kcnn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02263:Kcnn3 APN 3 89661218 missense possibly damaging 0.73
IGL02444:Kcnn3 APN 3 89652052 missense possibly damaging 0.50
IGL02500:Kcnn3 APN 3 89661112 splice site probably benign
IGL02814:Kcnn3 APN 3 89521175 missense possibly damaging 0.94
IGL02821:Kcnn3 APN 3 89520974 missense possibly damaging 0.91
IGL02852:Kcnn3 APN 3 89609616 missense probably damaging 0.96
IGL02942:Kcnn3 APN 3 89652076 missense probably benign 0.00
IGL03118:Kcnn3 APN 3 89667161 missense probably damaging 1.00
R0015:Kcnn3 UTSW 3 89662773 missense probably damaging 1.00
R0015:Kcnn3 UTSW 3 89662773 missense probably damaging 1.00
R0032:Kcnn3 UTSW 3 89520665 small deletion probably benign
R0370:Kcnn3 UTSW 3 89667092 missense probably damaging 0.98
R0619:Kcnn3 UTSW 3 89652030 missense probably damaging 1.00
R1167:Kcnn3 UTSW 3 89564952 nonsense probably null
R1255:Kcnn3 UTSW 3 89652109 missense possibly damaging 0.84
R1643:Kcnn3 UTSW 3 89520497 missense unknown
R1733:Kcnn3 UTSW 3 89652090 missense probably benign 0.00
R1793:Kcnn3 UTSW 3 89609405 missense probably benign 0.20
R1827:Kcnn3 UTSW 3 89520994 missense possibly damaging 0.75
R1899:Kcnn3 UTSW 3 89520455 start gained probably benign
R2055:Kcnn3 UTSW 3 89521375 missense probably damaging 1.00
R2843:Kcnn3 UTSW 3 89520665 small deletion probably benign
R2922:Kcnn3 UTSW 3 89521022 missense probably damaging 1.00
R4078:Kcnn3 UTSW 3 89661188 missense possibly damaging 0.68
R4227:Kcnn3 UTSW 3 89521175 missense possibly damaging 0.94
R4604:Kcnn3 UTSW 3 89520420 start gained probably benign
R4814:Kcnn3 UTSW 3 89662724 missense probably damaging 1.00
R4822:Kcnn3 UTSW 3 89667289 missense possibly damaging 0.93
R5175:Kcnn3 UTSW 3 89609439 missense probably damaging 1.00
R5211:Kcnn3 UTSW 3 89521231 missense probably benign 0.04
R5438:Kcnn3 UTSW 3 89521298 missense probably damaging 1.00
R5496:Kcnn3 UTSW 3 89609490 missense possibly damaging 0.95
R6244:Kcnn3 UTSW 3 89645523 nonsense probably null
Z1088:Kcnn3 UTSW 3 89667130 missense probably damaging 1.00
Posted On2015-12-18