Incidental Mutation 'IGL02444:Kcnn3'
ID293490
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: 0.445) question?
Stock #IGL02444
Quality Score
Status
Chromosome3
Chromosomal Location89520164-89675132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89652052 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 543 (V543A)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
Predicted Effect possibly damaging
Transcript: ENSMUST00000000811
AA Change: V543A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: V543A

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
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a A G 8: 43,569,673 I260T possibly damaging Het
Arhgap9 T A 10: 127,327,947 V484D probably damaging Het
Asph A G 4: 9,542,319 probably benign Het
Bbs9 T C 9: 22,643,787 S457P probably damaging Het
Bckdk A G 7: 127,907,446 T38A probably damaging Het
Cast G A 13: 74,739,853 T240I probably damaging Het
Cdc27 T C 11: 104,522,716 probably benign Het
Cdon T C 9: 35,473,448 S677P probably benign Het
Cfap161 T C 7: 83,776,145 E246G probably damaging Het
Dnah11 G A 12: 117,975,873 probably benign Het
Dnm3 C T 1: 162,010,875 V835I possibly damaging Het
Eif3a T C 19: 60,773,607 H510R possibly damaging Het
Fbxw2 G T 2: 34,805,781 T367K probably benign Het
Ghsr T C 3: 27,372,040 S82P probably benign Het
Gm4353 C T 7: 116,083,444 V301I probably benign Het
Golgb1 T C 16: 36,907,816 probably benign Het
Gria2 T A 3: 80,702,553 M650L possibly damaging Het
Herc4 T C 10: 63,306,433 V671A probably benign Het
Iqcb1 T A 16: 36,831,911 Y61* probably null Het
Irs2 C T 8: 11,006,306 G709S probably benign Het
Itpripl1 T G 2: 127,141,701 H167P possibly damaging Het
Klf10 T A 15: 38,297,824 K43M probably damaging Het
Lcor C T 19: 41,559,011 R345C probably damaging Het
Lmntd2 A G 7: 141,211,919 S304P probably damaging Het
Lpar3 T C 3: 146,241,194 I209T probably damaging Het
Map3k13 T A 16: 21,914,232 M528K probably benign Het
Me1 A T 9: 86,582,914 probably benign Het
Nedd4l T G 18: 65,203,957 probably benign Het
Oas1d T A 5: 120,920,008 F338L probably benign Het
Olfr15 T C 16: 3,839,687 F238S probably damaging Het
Olfr362 G T 2: 37,104,774 P292Q probably damaging Het
Pcdhb5 T C 18: 37,321,050 V161A probably benign Het
Prdx3 A T 19: 60,871,461 F91L possibly damaging Het
Rab25 T C 3: 88,542,713 T114A probably benign Het
Rasal2 T C 1: 157,299,195 E73G probably benign Het
Slco4c1 A G 1: 96,844,509 S252P probably damaging Het
Srgap2 A C 1: 131,325,153 probably null Het
Synpo A G 18: 60,602,430 S576P probably damaging Het
Tktl2 G T 8: 66,513,361 A524S possibly damaging Het
Tln2 A T 9: 67,258,592 probably benign Het
Tmem52 G A 4: 155,470,393 D158N probably damaging Het
Tyw3 T A 3: 154,596,989 Q36L probably damaging Het
Usp10 A T 8: 119,948,693 I483F possibly damaging Het
Usp31 A G 7: 121,679,495 Y216H probably damaging Het
Vmn1r181 T C 7: 23,984,523 S138P probably damaging Het
Vmn2r42 G T 7: 8,184,313 A770E probably damaging Het
Zfp292 A C 4: 34,808,810 S1411R possibly damaging Het
Other mutations in Kcnn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02263:Kcnn3 APN 3 89661218 missense possibly damaging 0.73
IGL02500:Kcnn3 APN 3 89661112 splice site probably benign
IGL02814:Kcnn3 APN 3 89521175 missense possibly damaging 0.94
IGL02821:Kcnn3 APN 3 89662722 missense possibly damaging 0.84
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
R7391:Kcnn3 UTSW 3 89609471 missense probably benign 0.34
Z1088:Kcnn3 UTSW 3 89667130 missense probably damaging 1.00
Posted On2015-04-16