Incidental Mutation 'R5496:Kcnn3'
ID 432330
Institutional Source Beutler Lab
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
MMRRC Submission 043057-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.514) question?
Stock # R5496 (G1)
Quality Score 217
Status Not validated
Chromosome 3
Chromosomal Location 89427471-89579801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 89516797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 402 (A402V)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
AlphaFold P58391
Predicted Effect possibly damaging
Transcript: ENSMUST00000000811
AA Change: A402V

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: A402V

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
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.2%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a G A 5: 8,724,818 (GRCm39) V84I probably benign Het
Adam10 T G 9: 70,630,021 (GRCm39) F151C probably damaging Het
Akap6 A G 12: 53,187,436 (GRCm39) S1617G possibly damaging Het
Ano6 T A 15: 95,865,495 (GRCm39) probably null Het
Atmin A G 8: 117,683,911 (GRCm39) T524A probably benign Het
Bicra C T 7: 15,721,766 (GRCm39) V584I probably benign Het
Carmil1 G A 13: 24,339,433 (GRCm39) R54C probably damaging Het
Cbln1 A G 8: 88,198,324 (GRCm39) I127T possibly damaging Het
Ccl26 A G 5: 135,592,217 (GRCm39) V40A probably benign Het
Cdh20 T A 1: 109,976,647 (GRCm39) I104N probably damaging Het
Cdt1 C T 8: 123,297,239 (GRCm39) R311W probably damaging Het
Cfap91 A G 16: 38,141,855 (GRCm39) I359T probably damaging Het
Col12a1 A G 9: 79,509,467 (GRCm39) probably benign Het
Csf2rb A G 15: 78,224,761 (GRCm39) E173G probably damaging Het
Cyb561 A G 11: 105,828,545 (GRCm39) Y94H probably damaging Het
Cyp3a16 T A 5: 145,404,341 (GRCm39) K34M probably damaging Het
Diras2 C T 13: 52,661,786 (GRCm39) V174M probably benign Het
Dnah7a T G 1: 53,496,927 (GRCm39) M3110L probably benign Het
Dyrk2 T C 10: 118,695,956 (GRCm39) E434G probably damaging Het
Ebag9 T G 15: 44,503,816 (GRCm39) *214E probably null Het
Egln3 A T 12: 54,250,110 (GRCm39) W80R probably damaging Het
Eps15l1 A G 8: 73,136,619 (GRCm39) Y336H probably benign Het
Gak A G 5: 108,724,483 (GRCm39) S1076P probably benign Het
Glra1 T C 11: 55,418,241 (GRCm39) Y168C probably damaging Het
Glrx2 T A 1: 143,620,945 (GRCm39) M108K probably damaging Het
Gm3604 A T 13: 62,519,393 (GRCm39) S59T possibly damaging Het
Gm8212 A T 14: 44,438,614 (GRCm39) probably benign Het
Gmcl1 G T 6: 86,674,507 (GRCm39) A457D probably damaging Het
H2-M11 T C 17: 36,858,871 (GRCm39) F137S possibly damaging Het
Ighv1-55 C G 12: 115,172,140 (GRCm39) W3S probably damaging Het
Il22 T G 10: 118,041,002 (GRCm39) V36G possibly damaging Het
Ints1 G A 5: 139,740,953 (GRCm39) A1904V probably benign Het
Iqgap2 A G 13: 95,766,561 (GRCm39) Y1481H probably damaging Het
Kif18b A T 11: 102,804,568 (GRCm39) I362N possibly damaging Het
Kif5c C G 2: 49,620,202 (GRCm39) A223G possibly damaging Het
Kntc1 A G 5: 123,922,245 (GRCm39) D948G probably benign Het
Krba1 A G 6: 48,383,290 (GRCm39) T229A possibly damaging Het
Leprot T A 4: 101,515,093 (GRCm39) I113N probably damaging Het
Lrp1b T C 2: 40,817,985 (GRCm39) D2415G probably benign Het
Mnd1 T A 3: 83,995,481 (GRCm39) D171V probably damaging Het
Mthfsd A T 8: 121,825,553 (GRCm39) Y339* probably null Het
Nfatc2 G A 2: 168,378,198 (GRCm39) T268M probably damaging Het
Or14j10 T C 17: 37,935,469 (GRCm39) D19G probably benign Het
Or52d3 G C 7: 104,229,701 (GRCm39) A283P probably damaging Het
Or8h7 G T 2: 86,720,658 (GRCm39) P287Q probably damaging Het
Or8h7 G C 2: 86,720,659 (GRCm39) P287A probably damaging Het
Pan3 G A 5: 147,463,938 (GRCm39) probably null Het
Pde6a A T 18: 61,386,736 (GRCm39) probably null Het
Prss39 T C 1: 34,539,342 (GRCm39) I194T possibly damaging Het
Rfx8 T C 1: 39,709,507 (GRCm39) S507G probably benign Het
Rif1 T C 2: 51,988,928 (GRCm39) S774P probably damaging Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Smurf1 C A 5: 144,819,403 (GRCm39) E601* probably null Het
Stau2 T C 1: 16,460,245 (GRCm39) S231G probably damaging Het
Timp2 T G 11: 118,194,707 (GRCm39) M161L probably benign Het
Tlr5 T C 1: 182,801,197 (GRCm39) L167P probably damaging Het
Trhr G A 15: 44,060,932 (GRCm39) A151T probably benign Het
Unc13d A G 11: 115,957,534 (GRCm39) V807A probably damaging Het
Usp2 T C 9: 43,996,505 (GRCm39) V7A possibly damaging Het
Uspl1 A G 5: 149,146,589 (GRCm39) T447A probably damaging Het
Zan A G 5: 137,434,607 (GRCm39) I2232T unknown Het
Zfp12 C A 5: 143,230,550 (GRCm39) C292* probably null Het
Zfp850 A C 7: 27,706,771 (GRCm39) M43R probably damaging Het
Zic5 G A 14: 122,696,755 (GRCm39) T620M unknown 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
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
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
Predicted Primers PCR Primer
(F):5'- TGTGATCGACAATGGTGCAG -3'
(R):5'- CCTTTCACAGACTCGCACAG -3'

Sequencing Primer
(F):5'- TCGACAATGGTGCAGATGACTG -3'
(R):5'- ACAGTCCAGGCAGCGATGATC -3'
Posted On 2016-10-05