Incidental Mutation 'IGL02942:Kcnn3'
ID 364529
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 # IGL02942
Quality Score
Status
Chromosome 3
Chromosomal Location 89427471-89579801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89559383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 551 (K551R)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
AlphaFold P58391
Predicted Effect probably benign
Transcript: ENSMUST00000000811
AA Change: K551R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: K551R

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
Abcd2 A C 15: 91,033,378 (GRCm39) D679E probably damaging Het
Adh6a A T 3: 138,030,642 (GRCm39) D88V probably damaging Het
Ank3 G A 10: 69,809,707 (GRCm39) V1123I probably damaging Het
Apba1 T C 19: 23,922,335 (GRCm39) V801A possibly damaging Het
Bcl2a1a C T 9: 88,839,095 (GRCm39) probably benign Het
Brd8 A G 18: 34,743,680 (GRCm39) V215A possibly damaging Het
Cdk17 G A 10: 93,074,830 (GRCm39) V454I probably benign Het
Chd5 G A 4: 152,470,182 (GRCm39) G1876D probably damaging Het
Clec4g T C 8: 3,768,356 (GRCm39) E125G probably damaging Het
Col24a1 G A 3: 145,247,420 (GRCm39) G1602D probably damaging Het
Depdc7 A C 2: 104,558,439 (GRCm39) L194R probably damaging Het
Dgke T G 11: 88,946,195 (GRCm39) N202H probably benign Het
Dkk2 T A 3: 131,883,798 (GRCm39) C233S probably damaging Het
Dmpk A C 7: 18,826,166 (GRCm39) D542A probably damaging Het
Epb41l4a G A 18: 34,007,254 (GRCm39) R246W probably damaging Het
Frmpd1 A T 4: 45,285,493 (GRCm39) Q1438L probably damaging Het
Gcgr A G 11: 120,427,643 (GRCm39) probably null Het
Gm10295 T C 7: 71,000,250 (GRCm39) K110R unknown Het
Ifrd1 A G 12: 40,267,375 (GRCm39) probably null Het
Inpp5f A G 7: 128,296,624 (GRCm39) T365A probably benign Het
Lama2 A T 10: 26,917,216 (GRCm39) N2236K probably damaging Het
Larp7 A T 3: 127,337,844 (GRCm39) I405N possibly damaging Het
Meltf C A 16: 31,709,596 (GRCm39) Y432* probably null Het
Mst1r C A 9: 107,790,352 (GRCm39) T655K possibly damaging Het
Myh1 C T 11: 67,093,308 (GRCm39) P133L probably damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Or52r1c A T 7: 102,735,405 (GRCm39) M222L probably benign Het
Or5b102 A T 19: 13,041,552 (GRCm39) Q259L probably benign Het
Or6a2 A G 7: 106,600,561 (GRCm39) S169P possibly damaging Het
Pfkl A T 10: 77,835,967 (GRCm39) probably null Het
Plekhb2 T C 1: 34,916,073 (GRCm39) M204T probably damaging Het
Ptp4a2 G A 4: 129,738,986 (GRCm39) probably null Het
Rtp4 A G 16: 23,431,704 (GRCm39) T79A probably benign Het
Senp3 T C 11: 69,568,815 (GRCm39) D410G probably benign Het
Slc16a5 T C 11: 115,360,176 (GRCm39) F120L possibly damaging Het
Snrpe T C 1: 133,536,669 (GRCm39) E37G probably damaging Het
Sorcs1 T C 19: 50,463,875 (GRCm39) T192A probably damaging Het
Spef2 T A 15: 9,668,960 (GRCm39) H742L possibly damaging Het
Syt12 T C 19: 4,497,858 (GRCm39) S375G probably benign Het
Tas2r117 T C 6: 132,780,657 (GRCm39) L265P probably benign Het
Tcp10a T A 17: 7,597,318 (GRCm39) D158E probably damaging Het
Tesk2 A T 4: 116,629,017 (GRCm39) H122L probably damaging Het
Tut7 T G 13: 59,959,335 (GRCm39) N378H probably damaging Het
Unc93b1 T A 19: 3,998,686 (GRCm39) M535K probably damaging Het
Vangl1 C A 3: 102,091,347 (GRCm39) R246S probably damaging Het
Xpo5 C T 17: 46,519,059 (GRCm39) T166I probably damaging Het
Zmiz2 T C 11: 6,349,500 (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
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
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 2015-12-18