Incidental Mutation 'IGL03118:Kcnn3'
ID409857
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 #IGL03118
Quality Score
Status
Chromosome3
Chromosomal Location89520164-89675132 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 89667161 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 660 (L660Q)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
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: 24,400,450 G921S probably benign Het
Abca8b T C 11: 109,947,181 T1082A possibly damaging Het
AF366264 C T 8: 13,838,096 probably benign Het
B9d2 T C 7: 25,681,476 probably null Het
Bfsp1 T C 2: 143,827,333 E442G possibly damaging Het
Bpifb5 C T 2: 154,236,753 probably benign Het
Ccl1 A G 11: 82,178,070 I47T probably damaging Het
Cln3 T C 7: 126,575,397 I285V probably null Het
Cyp4a12b G T 4: 115,432,976 R242I possibly damaging Het
Dcc T C 18: 71,420,273 T771A probably benign Het
Erbb4 T C 1: 68,042,719 D1052G probably benign Het
Fcnb T C 2: 28,076,618 N301S probably benign Het
Gm28043 A C 17: 29,634,731 E403A probably damaging Het
Gria4 A G 9: 4,793,804 probably benign Het
Ighv5-12 T A 12: 113,702,578 M1L probably benign Het
Il17rd A G 14: 27,093,395 probably null Het
Lcor C T 19: 41,558,369 P131S probably damaging Het
Leng1 T C 7: 3,665,410 N13S probably damaging Het
Loxhd1 T C 18: 77,380,464 V827A probably damaging Het
Mapk13 A G 17: 28,777,735 Y208C probably benign Het
Mybpc3 T C 2: 91,124,503 V453A probably damaging Het
Odam T C 5: 87,885,754 S15P unknown Het
Olfr26 A T 9: 38,855,230 H56L probably damaging Het
Olfr323 A T 11: 58,625,443 V201D probably damaging Het
Pcdhb19 T C 18: 37,499,565 probably benign Het
Per2 G T 1: 91,444,619 Y244* probably null Het
Pik3ca A T 3: 32,459,935 I857F probably damaging Het
Pold1 T A 7: 44,539,400 I447F probably benign Het
Ppm1f T A 16: 16,914,078 W131R probably null Het
Ppp2r2c A G 5: 36,926,316 Y67C probably damaging Het
Psmb10 A T 8: 105,936,900 H155Q probably damaging Het
Ptbp3 G A 4: 59,501,470 A149V probably benign Het
Pygb T A 2: 150,820,811 V566E probably benign Het
Rictor G A 15: 6,759,518 R205Q possibly damaging Het
Ryr1 T A 7: 29,015,786 R4638W unknown Het
Sept3 G A 15: 82,284,514 probably null Het
Serpina3b A T 12: 104,131,054 D198V probably benign Het
Slc27a6 C A 18: 58,556,743 H94N probably benign Het
Taf2 C T 15: 55,052,163 V456M probably damaging Het
Tbpl2 T C 2: 24,087,289 E238G probably benign Het
Ttn C T 2: 76,754,207 V20440I possibly damaging Het
Zfp638 T A 6: 83,935,018 probably benign Het
Zfp865 T C 7: 5,034,645 probably benign 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 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
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 On2016-08-02