Incidental Mutation 'R0009:Kcnn4'
ID 40470
Institutional Source Beutler Lab
Gene Symbol Kcnn4
Ensembl Gene ENSMUSG00000054342
Gene Name potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4
Synonyms KCa3.1, IK1, SK4, IKCa1, mIKCa1
MMRRC Submission 038304-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.231) question?
Stock # R0009 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 24370263-24386690 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 24379255 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 267 (C267R)
Ref Sequence ENSEMBL: ENSMUSP00000146012 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171904] [ENSMUST00000205428] [ENSMUST00000205626]
AlphaFold O89109
Predicted Effect possibly damaging
Transcript: ENSMUST00000171904
AA Change: C267R

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133065
Gene: ENSMUSG00000054342
AA Change: C267R

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: C267R

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000205626
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206910
Meta Mutation Damage Score 0.5990 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (68/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,919,633 (GRCm38) probably benign Het
Abcg4 T G 9: 44,277,649 (GRCm38) probably benign Het
Afm C A 5: 90,545,384 (GRCm38) probably benign Het
Ahrr G A 13: 74,283,024 (GRCm38) probably benign Het
Aplnr T A 2: 85,137,276 (GRCm38) probably null Het
Arih2 T A 9: 108,611,727 (GRCm38) H264L probably damaging Het
Atp1a1 A T 3: 101,579,835 (GRCm38) I886N possibly damaging Het
Bmf A T 2: 118,549,622 (GRCm38) V14E probably damaging Het
Ccdc116 T C 16: 17,144,039 (GRCm38) E15G probably damaging Het
Ccdc175 T C 12: 72,135,965 (GRCm38) N427D possibly damaging Het
Cfap53 A G 18: 74,299,176 (GRCm38) H45R probably benign Het
Chd3 A G 11: 69,349,906 (GRCm38) L1569P probably damaging Het
Cntn2 G A 1: 132,516,180 (GRCm38) Q457* probably null Het
Coro1a A T 7: 126,701,413 (GRCm38) probably benign Het
Cracr2b T A 7: 141,463,759 (GRCm38) L91Q probably damaging Het
Ctdspl T C 9: 119,020,046 (GRCm38) probably null Het
Dip2b T A 15: 100,169,312 (GRCm38) L565Q probably damaging Het
Dip2c T A 13: 9,621,903 (GRCm38) C1004S probably damaging Het
Dnah11 A T 12: 118,045,522 (GRCm38) I2135N possibly damaging Het
Dnah14 A G 1: 181,769,407 (GRCm38) probably benign Het
Dnase1 T C 16: 4,038,946 (GRCm38) V147A probably damaging Het
Dusp8 T C 7: 142,082,054 (GRCm38) probably benign Het
Fer1l6 T C 15: 58,662,787 (GRCm38) Y1828H probably damaging Het
Flvcr1 A G 1: 191,008,191 (GRCm38) V544A probably benign Het
Fsd1l T C 4: 53,687,209 (GRCm38) V311A probably benign Het
Glud1 G A 14: 34,334,268 (GRCm38) G300S probably benign Het
Gm4847 C T 1: 166,630,486 (GRCm38) V433I probably benign Het
Gstm3 T G 3: 107,967,840 (GRCm38) Y62S probably damaging Het
Gtse1 C T 15: 85,862,435 (GRCm38) P151S probably benign Het
Herc2 T C 7: 56,207,812 (GRCm38) S4048P probably benign Het
Hp1bp3 T A 4: 138,221,683 (GRCm38) I19K probably benign Het
Htr7 C A 19: 36,041,540 (GRCm38) probably benign Het
Il1a C T 2: 129,309,074 (GRCm38) D10N probably damaging Het
Il22ra2 A T 10: 19,624,458 (GRCm38) N39I probably damaging Het
Larp1 A G 11: 58,055,473 (GRCm38) K879R possibly damaging Het
Lcn5 T A 2: 25,661,405 (GRCm38) probably benign Het
Lep T A 6: 29,068,972 (GRCm38) C7* probably null Het
Magi2 A T 5: 20,611,055 (GRCm38) Y747F probably benign Het
Mast4 T C 13: 102,742,058 (GRCm38) T1223A probably damaging Het
Mcc C T 18: 44,445,933 (GRCm38) E803K probably damaging Het
Mtmr4 T C 11: 87,611,508 (GRCm38) I796T probably benign Het
Myef2 A T 2: 125,108,978 (GRCm38) D312E probably benign Het
Myl3 A C 9: 110,767,929 (GRCm38) D119A probably damaging Het
Myo19 T A 11: 84,888,169 (GRCm38) probably null Het
Naa15 T G 3: 51,470,219 (GRCm38) H763Q probably damaging Het
Pde5a C T 3: 122,824,902 (GRCm38) probably benign Het
Plpp2 C T 10: 79,527,244 (GRCm38) R184H probably benign Het
Rab19 T G 6: 39,389,687 (GRCm38) L179V probably damaging Het
Rims2 T A 15: 39,534,966 (GRCm38) M1087K probably damaging Het
Riox2 C A 16: 59,489,367 (GRCm38) D361E probably benign Het
Sh3rf1 T A 8: 61,226,293 (GRCm38) V123E probably damaging Het
Slc35e1 A T 8: 72,484,709 (GRCm38) N318K probably damaging Het
Slc9a2 A T 1: 40,763,602 (GRCm38) E604V probably benign Het
Srp72 T C 5: 76,987,885 (GRCm38) S221P probably damaging Het
Tbx19 A T 1: 165,160,520 (GRCm38) S15T possibly damaging Het
Tcea2 A G 2: 181,685,817 (GRCm38) T112A probably benign Het
Tesk1 T A 4: 43,445,368 (GRCm38) D230E probably damaging Het
Tm4sf5 C T 11: 70,510,712 (GRCm38) A179V probably damaging Het
Tnr G T 1: 159,852,416 (GRCm38) G320V probably damaging Het
Trappc11 A T 8: 47,503,320 (GRCm38) C874S possibly damaging Het
Trpm3 T A 19: 22,914,446 (GRCm38) Y885N probably damaging Het
Unc5a T A 13: 55,002,879 (GRCm38) C505S probably damaging Het
Vmn1r28 G A 6: 58,265,717 (GRCm38) A182T probably benign Het
Xpo5 T C 17: 46,204,786 (GRCm38) probably benign Het
Zfp637 C A 6: 117,845,668 (GRCm38) H252Q probably damaging Het
Zfp646 T A 7: 127,880,731 (GRCm38) D693E probably damaging Het
Other mutations in Kcnn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01364:Kcnn4 APN 7 24,381,703 (GRCm38) missense probably benign 0.05
IGL02958:Kcnn4 APN 7 24,374,745 (GRCm38) missense probably benign 0.00
ivanhoe UTSW 7 24,374,742 (GRCm38) missense probably damaging 1.00
longbow UTSW 7 24,379,255 (GRCm38) missense possibly damaging 0.88
R1706:Kcnn4 UTSW 7 24,374,742 (GRCm38) missense probably damaging 1.00
R4300:Kcnn4 UTSW 7 24,377,604 (GRCm38) missense probably benign 0.21
R4402:Kcnn4 UTSW 7 24,377,442 (GRCm38) missense probably benign 0.12
R5455:Kcnn4 UTSW 7 24,377,553 (GRCm38) missense probably damaging 1.00
R5811:Kcnn4 UTSW 7 24,377,605 (GRCm38) missense probably damaging 0.99
R6319:Kcnn4 UTSW 7 24,381,740 (GRCm38) missense possibly damaging 0.89
R8098:Kcnn4 UTSW 7 24,384,079 (GRCm38) missense probably damaging 0.99
R8322:Kcnn4 UTSW 7 24,384,120 (GRCm38) missense probably benign
R8376:Kcnn4 UTSW 7 24,377,626 (GRCm38) missense possibly damaging 0.47
R8871:Kcnn4 UTSW 7 24,384,075 (GRCm38) missense possibly damaging 0.94
R9063:Kcnn4 UTSW 7 24,377,509 (GRCm38) missense probably damaging 1.00
R9519:Kcnn4 UTSW 7 24,382,516 (GRCm38) missense probably damaging 1.00
R9608:Kcnn4 UTSW 7 24,384,078 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-05-23