Incidental Mutation 'R1706:Kcnn4'
ID 190070
Institutional Source Beutler Lab
Gene Symbol Kcnn4
Ensembl Gene ENSMUSG00000054342
Gene Name potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4
Synonyms mIKCa1, IKCa1, KCa3.1, SK4, IK1
MMRRC Submission 039739-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # R1706 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 24069750-24084635 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24074167 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 77 (V77E)
Ref Sequence ENSEMBL: ENSMUSP00000145873 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171904] [ENSMUST00000205428] [ENSMUST00000205626]
AlphaFold O89109
Predicted Effect possibly damaging
Transcript: ENSMUST00000171904
AA Change: V77E

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133065
Gene: ENSMUSG00000054342
AA Change: V77E

DomainStartEndE-ValueType
Pfam:SK_channel 11 124 1.7e-41 PFAM
low complexity region 143 160 N/A INTRINSIC
Pfam:Ion_trans_2 209 289 2.6e-16 PFAM
CaMBD 302 375 1.85e-32 SMART
low complexity region 411 424 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000205428
AA Change: V77E

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably damaging
Transcript: ENSMUST00000205626
AA Change: V77E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Meta Mutation Damage Score 0.6320 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.6%
Validation Efficiency 100% (60/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null male mice have increased parotid gland weight and both sexes have impaired volume regulation in erythrocytes and T lymphocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,624,059 (GRCm39) probably benign Het
4931406C07Rik G A 9: 15,209,153 (GRCm39) T47I probably damaging Het
Adcy2 T A 13: 68,868,865 (GRCm39) N558I probably damaging Het
Ago3 G A 4: 126,264,085 (GRCm39) P374S probably damaging Het
Ak8 T C 2: 28,650,007 (GRCm39) C345R possibly damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
BC005624 T C 2: 30,868,922 (GRCm39) E84G possibly damaging Het
Cav1 T C 6: 17,339,181 (GRCm39) F89L probably damaging Het
Cfap206 G A 4: 34,688,875 (GRCm39) P593L probably damaging Het
Clcn6 G A 4: 148,102,025 (GRCm39) T353I probably benign Het
Cstl1 G A 2: 148,593,079 (GRCm39) probably null Het
Cyp2d10 A C 15: 82,289,783 (GRCm39) S140A probably damaging Het
D130052B06Rik G A 11: 33,566,230 (GRCm39) R18H unknown Het
Ddi2 A G 4: 141,411,308 (GRCm39) F535L probably benign Het
Dop1a C T 9: 86,436,133 (GRCm39) T2383M possibly damaging Het
Duox1 A G 2: 122,149,953 (GRCm39) T115A probably benign Het
Ercc6l2 T A 13: 64,020,272 (GRCm39) probably benign Het
Gm7052 A G 17: 22,258,823 (GRCm39) probably benign Het
Gm9925 G A 18: 74,198,573 (GRCm39) probably benign Het
Gnas T A 2: 174,141,768 (GRCm39) S646T possibly damaging Het
Gpatch3 T A 4: 133,302,484 (GRCm39) C138* probably null Het
Igsf8 C T 1: 172,144,972 (GRCm39) R100C probably damaging Het
Kcnh3 A G 15: 99,135,959 (GRCm39) K652R possibly damaging Het
Kif13b T A 14: 64,998,115 (GRCm39) probably benign Het
Lca5l T C 16: 95,977,164 (GRCm39) N214S probably benign Het
Luc7l3 T C 11: 94,188,582 (GRCm39) probably benign Het
Lypd3 T C 7: 24,339,755 (GRCm39) I274T probably benign Het
Macf1 A G 4: 123,264,377 (GRCm39) probably null Het
Mchr1 A G 15: 81,121,364 (GRCm39) Y38C probably damaging Het
Mia2 T A 12: 59,191,552 (GRCm39) L716* probably null Het
Mki67 A G 7: 135,302,295 (GRCm39) L913P probably benign Het
Mug2 T A 6: 122,013,191 (GRCm39) probably benign Het
Neu3 A G 7: 99,472,563 (GRCm39) L58P probably damaging Het
Or4p23 G A 2: 88,576,482 (GRCm39) P250L probably damaging Het
Or8h9 A T 2: 86,789,424 (GRCm39) I126N probably damaging Het
Pak1ip1 T C 13: 41,166,164 (GRCm39) V363A probably benign Het
Pcdhb16 A G 18: 37,612,705 (GRCm39) D555G probably benign Het
Pygb G A 2: 150,669,067 (GRCm39) G671D probably damaging Het
Rab30 A T 7: 92,478,875 (GRCm39) I79L possibly damaging Het
Rab44 C A 17: 29,357,080 (GRCm39) T70K probably damaging Het
Rccd1 C G 7: 79,970,411 (GRCm39) G69R possibly damaging Het
Sema5b T C 16: 35,470,125 (GRCm39) V329A probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Slc22a14 T C 9: 119,010,050 (GRCm39) N15S probably benign Het
Smurf2 G A 11: 106,715,573 (GRCm39) H632Y probably damaging Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tgm6 T C 2: 129,987,079 (GRCm39) C516R possibly damaging Het
Tmprss9 T C 10: 80,734,021 (GRCm39) probably benign Het
Trim67 A G 8: 125,521,160 (GRCm39) N174S probably damaging Het
Ttc8 C A 12: 98,910,142 (GRCm39) T123K probably benign Het
Ugt1a7c T A 1: 88,023,447 (GRCm39) M202K probably damaging Het
Vmn2r7 T A 3: 64,598,880 (GRCm39) H559L possibly damaging Het
Zfp511 A G 7: 139,617,192 (GRCm39) D96G probably benign Het
Zfp868 A G 8: 70,065,060 (GRCm39) Y92H probably benign Het
Zzz3 T A 3: 152,154,735 (GRCm39) D633E probably damaging Het
Other mutations in Kcnn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Kcnn4 APN 7 24,081,128 (GRCm39) missense probably benign 0.05
IGL02958:Kcnn4 APN 7 24,074,170 (GRCm39) missense probably benign 0.00
ivanhoe UTSW 7 24,074,167 (GRCm39) missense probably damaging 1.00
longbow UTSW 7 24,078,680 (GRCm39) missense possibly damaging 0.88
R0009:Kcnn4 UTSW 7 24,078,680 (GRCm39) missense possibly damaging 0.88
R4300:Kcnn4 UTSW 7 24,077,029 (GRCm39) missense probably benign 0.21
R4402:Kcnn4 UTSW 7 24,076,867 (GRCm39) missense probably benign 0.12
R5455:Kcnn4 UTSW 7 24,076,978 (GRCm39) missense probably damaging 1.00
R5811:Kcnn4 UTSW 7 24,077,030 (GRCm39) missense probably damaging 0.99
R6319:Kcnn4 UTSW 7 24,081,165 (GRCm39) missense possibly damaging 0.89
R8098:Kcnn4 UTSW 7 24,083,504 (GRCm39) missense probably damaging 0.99
R8322:Kcnn4 UTSW 7 24,083,545 (GRCm39) missense probably benign
R8376:Kcnn4 UTSW 7 24,077,051 (GRCm39) missense possibly damaging 0.47
R8871:Kcnn4 UTSW 7 24,083,500 (GRCm39) missense possibly damaging 0.94
R9063:Kcnn4 UTSW 7 24,076,934 (GRCm39) missense probably damaging 1.00
R9519:Kcnn4 UTSW 7 24,081,941 (GRCm39) missense probably damaging 1.00
R9608:Kcnn4 UTSW 7 24,083,503 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGAATGTGAGTTTCAAGGCTCCCC -3'
(R):5'- GCAGAATCTGCCTGTCTGTCTGTG -3'

Sequencing Primer
(F):5'- tgtcctcctgtctcagcc -3'
(R):5'- GGCTCATTCTATCCCAGCGG -3'
Posted On 2014-05-14