Incidental Mutation 'R5438:Kcnn3'
ID 428465
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 043003-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.514) question?
Stock # R5438 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 89427471-89579801 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89428605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 277 (L277Q)
Ref Sequence ENSEMBL: ENSMUSP00000000811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000811]
AlphaFold P58391
Predicted Effect probably damaging
Transcript: ENSMUST00000000811
AA Change: L277Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000811
Gene: ENSMUSG00000000794
AA Change: L277Q

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,538,165 (GRCm39) Q244K probably benign Het
Arpc2 T A 1: 74,275,995 (GRCm39) L4Q probably null Het
Atp7b C T 8: 22,504,570 (GRCm39) V581I probably benign Het
Bpifb9b T A 2: 154,151,288 (GRCm39) V3D possibly damaging Het
Capn13 A G 17: 73,633,479 (GRCm39) F525L probably benign Het
Cimip4 T C 15: 78,263,040 (GRCm39) T180A possibly damaging Het
Cmya5 G T 13: 93,231,707 (GRCm39) T1127K possibly damaging Het
Col6a4 A T 9: 105,890,895 (GRCm39) L1800I possibly damaging Het
Cpd T A 11: 76,682,792 (GRCm39) I1076F possibly damaging Het
Elp4 A G 2: 105,734,748 (GRCm39) F29S probably damaging Het
Exosc10 T A 4: 148,650,799 (GRCm39) Y448* probably null Het
Fam219a A G 4: 41,520,302 (GRCm39) S149P probably damaging Het
Gdap2 A T 3: 100,085,629 (GRCm39) I184F probably damaging Het
Golgb1 A G 16: 36,720,870 (GRCm39) N409D probably benign Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Hvcn1 A G 5: 122,376,527 (GRCm39) K153R probably damaging Het
Ighv3-1 T A 12: 113,928,089 (GRCm39) H90L probably benign Het
Lama1 T A 17: 68,107,769 (GRCm39) S2128T possibly damaging Het
Ltbp1 T A 17: 75,598,321 (GRCm39) S919T probably damaging Het
Mgam A G 6: 40,661,455 (GRCm39) N1163S probably damaging Het
Mypn G T 10: 62,971,618 (GRCm39) C807* probably null Het
Or52n5 G A 7: 104,588,344 (GRCm39) V204I probably benign Het
Or5m8 T C 2: 85,822,925 (GRCm39) F255L probably damaging Het
Otud7a A G 7: 63,407,207 (GRCm39) N62S unknown Het
Pcdh18 A T 3: 49,710,465 (GRCm39) Y283* probably null Het
Ptger2 A T 14: 45,227,101 (GRCm39) H227L possibly damaging Het
Slc24a5 A G 2: 124,910,785 (GRCm39) Y72C probably damaging Het
Slc35f2 T A 9: 53,708,302 (GRCm39) D98E probably benign Het
Smad1 A T 8: 80,082,949 (GRCm39) F184I probably benign Het
Sncg C T 14: 34,095,637 (GRCm39) V52I probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Zc3h11a C T 1: 133,568,385 (GRCm39) R88H probably damaging Het
Zfp141 A G 7: 42,138,894 (GRCm39) V46A probably damaging Het
Zfp472 T A 17: 33,197,193 (GRCm39) C423S probably damaging Het
Zfp729a A T 13: 67,767,705 (GRCm39) H841Q possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- AGCTCTTCAGTCCCAGCAAC -3'
(R):5'- AAAGGAATTCTCACAGGACCATG -3'

Sequencing Primer
(F):5'- TTATCATCTCCTCCAGGGAG -3'
(R):5'- ACATGGGAAGTTAGGAAATCTCTC -3'
Posted On 2016-09-01