Incidental Mutation 'R9519:Kcnn4'
ID 718757
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.256) question?
Stock # R9519 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 24069750-24084635 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 24081941 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 363 (V363E)
Ref Sequence ENSEMBL: ENSMUSP00000133065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171904] [ENSMUST00000205428] [ENSMUST00000205626]
AlphaFold O89109
Predicted Effect probably damaging
Transcript: ENSMUST00000171904
AA Change: V363E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133065
Gene: ENSMUSG00000054342
AA Change: V363E

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 probably damaging
Transcript: ENSMUST00000205428
AA Change: V363E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000205626
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,030,572 (GRCm39) E676G probably benign Het
Aatk G A 11: 119,912,309 (GRCm39) probably benign Het
Abcc1 T C 16: 14,207,681 (GRCm39) V20A probably benign Het
Abcc3 A G 11: 94,264,805 (GRCm39) V181A possibly damaging Het
Alkbh2 T C 5: 114,265,794 (GRCm39) K3E probably benign Het
Aox1 A C 1: 58,373,926 (GRCm39) K862N probably damaging Het
Arap1 G A 7: 101,043,946 (GRCm39) probably benign Het
Arid2 A G 15: 96,186,948 (GRCm39) N67D possibly damaging Het
Atxn1l C T 8: 110,458,688 (GRCm39) V525M probably damaging Het
Bcan C G 3: 87,902,964 (GRCm39) E271D probably damaging Het
Bcan T C 3: 87,902,968 (GRCm39) E270G probably benign Het
Bcan C A 3: 87,902,967 (GRCm39) E270D probably damaging Het
Cadps T C 14: 12,546,290 (GRCm38) H522R possibly damaging Het
Dll3 A G 7: 27,995,764 (GRCm39) S346P probably damaging Het
Epha3 T A 16: 63,472,668 (GRCm39) T406S possibly damaging Het
Far1 A G 7: 113,150,559 (GRCm39) R296G probably benign Het
Flot1 T G 17: 36,136,363 (GRCm39) V172G possibly damaging Het
Gm973 A G 1: 59,580,611 (GRCm39) M165V probably benign Het
Golm1 T C 13: 59,792,914 (GRCm39) H197R probably benign Het
Gpr85 T C 6: 13,836,998 (GRCm39) probably benign Het
Herc1 A G 9: 66,307,356 (GRCm39) K1017E probably damaging Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Jmjd1c A G 10: 66,993,798 (GRCm39) D93G possibly damaging Het
Kif9 A G 9: 110,350,344 (GRCm39) D745G probably damaging Het
Lipm T C 19: 34,090,392 (GRCm39) M191T probably benign Het
Ltbp1 C T 17: 75,692,190 (GRCm39) R1603C probably damaging Het
Ms4a13 C G 19: 11,147,332 (GRCm39) S194T unknown Het
Muc16 A T 9: 18,498,216 (GRCm39) I6577N probably benign Het
Nfatc2 T C 2: 168,412,678 (GRCm39) T336A probably benign Het
Nlrp9c T A 7: 26,085,302 (GRCm39) K92N possibly damaging Het
Or1p1b A T 11: 74,130,827 (GRCm39) T146S probably benign Het
Or51a10 C A 7: 103,698,636 (GRCm39) M308I probably benign Het
Parp16 T A 9: 65,137,222 (GRCm39) Y149* probably null Het
Pdgfra A T 5: 75,337,350 (GRCm39) T463S probably benign Het
Peg3 T C 7: 6,714,394 (GRCm39) E276G probably benign Het
Prom1 A G 5: 44,213,403 (GRCm39) V110A possibly damaging Het
Ptprq T C 10: 107,520,961 (GRCm39) Y737C probably damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Sds T A 5: 120,619,610 (GRCm39) L173Q probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Slc8a3 A T 12: 81,362,326 (GRCm39) D164E probably benign Het
Slc9c1 A T 16: 45,395,770 (GRCm39) N607I probably damaging Het
Smarce1 A T 11: 99,104,933 (GRCm39) I248K probably benign Het
Smg7 G T 1: 152,735,196 (GRCm39) T213K probably damaging Het
Snrnp70 C T 7: 45,036,875 (GRCm39) D90N probably benign Het
Snx20 A G 8: 89,354,400 (GRCm39) V110A possibly damaging Het
Snx25 A G 8: 46,486,783 (GRCm39) V986A probably damaging Het
Soat1 T C 1: 156,259,779 (GRCm39) K521E probably benign Het
Speg C T 1: 75,392,380 (GRCm39) T1679M probably damaging Het
Stoml3 T A 3: 53,405,402 (GRCm39) F28I probably benign Het
Sult1d1 A T 5: 87,704,721 (GRCm39) M256K probably damaging Het
Tiam1 T C 16: 89,608,822 (GRCm39) E1064G probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp790 C A 7: 29,522,567 (GRCm39) H3N unknown 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
R1706:Kcnn4 UTSW 7 24,074,167 (GRCm39) missense probably damaging 1.00
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
R9608:Kcnn4 UTSW 7 24,083,503 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATGCTAGTGGCCCTGGATTC -3'
(R):5'- CAGTCCTGTAACCTTTACTGCACAC -3'

Sequencing Primer
(F):5'- TGGATTCCCAGGGTCCCTC -3'
(R):5'- CCTGGAACTCATTTTGTAGACCAGG -3'
Posted On 2022-07-18