Incidental Mutation 'R2273:Kcnc1'
ID 242642
Institutional Source Beutler Lab
Gene Symbol Kcnc1
Ensembl Gene ENSMUSG00000058975
Gene Name potassium voltage gated channel, Shaw-related subfamily, member 1
Synonyms Shaw, KShIIIB, NGK2, KV4, Kv3.1, Kcr2-1, C230009H10Rik
MMRRC Submission 040273-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R2273 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 46045921-46088128 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46077226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 343 (N343D)
Ref Sequence ENSEMBL: ENSMUSP00000124938 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025202] [ENSMUST00000160433]
AlphaFold P15388
Predicted Effect probably damaging
Transcript: ENSMUST00000025202
AA Change: N343D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025202
Gene: ENSMUSG00000058975
AA Change: N343D

DomainStartEndE-ValueType
BTB 8 112 2.29e-15 SMART
low complexity region 125 149 N/A INTRINSIC
Pfam:Ion_trans 247 435 2.8e-34 PFAM
Pfam:Ion_trans_2 346 440 1.5e-12 PFAM
low complexity region 449 464 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160234
Predicted Effect probably damaging
Transcript: ENSMUST00000160433
AA Change: N343D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124938
Gene: ENSMUSG00000058975
AA Change: N343D

DomainStartEndE-ValueType
BTB 8 112 2.29e-15 SMART
low complexity region 125 149 N/A INTRINSIC
Pfam:Ion_trans 189 447 6.9e-47 PFAM
Pfam:Ion_trans_2 347 440 1.4e-12 PFAM
low complexity region 449 464 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of integral membrane proteins that mediate the voltage-dependent potassium ion permeability of excitable membranes. Alternative splicing is thought to result in two transcript variants encoding isoforms that differ at their C-termini. These isoforms have had conflicting names in the literature: the longer isoform has been called both "b" and "alpha", while the shorter isoform has been called both "a" and "beta" (PMIDs 1432046, 12091563). [provided by RefSeq, Oct 2014]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,667 (GRCm39) C59S possibly damaging Het
Abca5 A T 11: 110,166,107 (GRCm39) N1556K possibly damaging Het
Ackr1 T C 1: 173,160,052 (GRCm39) N156D probably benign Het
Ank3 T A 10: 69,786,772 (GRCm39) probably null Het
Arhgef7 T A 8: 11,865,010 (GRCm39) F374Y possibly damaging Het
Atp11b A G 3: 35,882,762 (GRCm39) I606V probably benign Het
Atp6v1h T A 1: 5,187,699 (GRCm39) D222E probably damaging Het
Bco1 G A 8: 117,835,522 (GRCm39) probably null Het
Cacna1g T A 11: 94,306,762 (GRCm39) E1842V probably damaging Het
Calhm3 T A 19: 47,145,986 (GRCm39) Q73L probably damaging Het
Cdc42bpb C T 12: 111,268,601 (GRCm39) E1200K probably damaging Het
Cdr2 A T 7: 120,557,732 (GRCm39) H264Q possibly damaging Het
Cecr2 C T 6: 120,733,702 (GRCm39) S563L probably benign Het
Cfh C T 1: 140,030,563 (GRCm39) V824M probably damaging Het
Ciapin1 A T 8: 95,558,415 (GRCm39) V99E probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cpxm2 TGCAGCAGCAGCAGCAGCAG TGCAGCAGCAGCAGCAG 7: 131,661,581 (GRCm39) probably benign Het
Crim1 T C 17: 78,662,608 (GRCm39) probably null Het
D7Ertd443e A G 7: 133,871,930 (GRCm39) S644P probably damaging Het
Dnlz A T 2: 26,241,483 (GRCm39) C82S probably damaging Het
F11 T C 8: 45,705,184 (GRCm39) D119G possibly damaging Het
Fat3 T C 9: 15,826,558 (GRCm39) T4465A probably benign Het
Fdxacb1 A G 9: 50,683,321 (GRCm39) E428G probably benign Het
Fn1 C T 1: 71,653,102 (GRCm39) G1296R probably null Het
Gm11568 A G 11: 99,749,070 (GRCm39) S92G unknown Het
Gpr158 A T 2: 21,831,674 (GRCm39) M925L probably benign Het
Hivep2 T C 10: 14,008,187 (GRCm39) M1595T probably benign Het
Hoxd1 A G 2: 74,594,501 (GRCm39) K252R probably damaging Het
Ift88 A G 14: 57,726,393 (GRCm39) K684E possibly damaging Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Kifap3 T A 1: 163,696,327 (GRCm39) V652D possibly damaging Het
Lrig1 A T 6: 94,585,124 (GRCm39) D840E probably damaging Het
Lrrc7 A G 3: 157,892,696 (GRCm39) S318P probably damaging Het
Map1b A C 13: 99,568,592 (GRCm39) D1376E unknown Het
Marchf1 T A 8: 66,840,151 (GRCm39) N311K probably benign Het
Mier2 T C 10: 79,380,368 (GRCm39) I321V probably damaging Het
Mrc1 G A 2: 14,330,183 (GRCm39) R1264Q probably damaging Het
Nrarp T C 2: 25,071,421 (GRCm39) V100A possibly damaging Het
Nt5c1a T C 4: 123,109,873 (GRCm39) F324S probably damaging Het
Odad2 C A 18: 7,223,676 (GRCm39) G456W probably benign Het
Or2t44 T C 11: 58,677,492 (GRCm39) V144A probably benign Het
Or5d41 A G 2: 88,055,167 (GRCm39) F70L probably benign Het
Or5g29 G T 2: 85,420,932 (GRCm39) G16V probably damaging Het
Or6c35 T C 10: 129,169,326 (GRCm39) I192T probably benign Het
Pcdhb4 C T 18: 37,441,979 (GRCm39) L430F probably damaging Het
Ptpn2 T G 18: 67,810,872 (GRCm39) M256L probably damaging Het
Rph3a C T 5: 121,111,367 (GRCm39) R71H probably damaging Het
Rrm2b T A 15: 37,945,295 (GRCm39) D148V possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc12a3 T A 8: 95,059,915 (GRCm39) I187N possibly damaging Het
Slc46a1 T G 11: 78,357,249 (GRCm39) S101A probably benign Het
Sned1 T A 1: 93,209,364 (GRCm39) probably null Het
Sult1d1 T G 5: 87,703,887 (GRCm39) N266T probably damaging Het
Tjp2 G T 19: 24,090,171 (GRCm39) H624N probably benign Het
Tmcc3 G A 10: 94,414,777 (GRCm39) V160I probably damaging Het
Tsr1 A T 11: 74,795,653 (GRCm39) probably null Het
Tyrp1 A T 4: 80,755,771 (GRCm39) E180V probably damaging Het
Ubr3 T C 2: 69,846,685 (GRCm39) V1636A probably benign Het
Usp1 T C 4: 98,818,079 (GRCm39) L139P probably damaging Het
Vldlr A T 19: 27,225,415 (GRCm39) T859S probably damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r94 T A 17: 18,477,593 (GRCm39) M273L probably benign Het
Zc3h6 T C 2: 128,856,629 (GRCm39) Y570H probably benign Het
Zhx2 A G 15: 57,686,565 (GRCm39) S645G probably benign Het
Other mutations in Kcnc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01575:Kcnc1 APN 7 46,077,523 (GRCm39) missense possibly damaging 0.95
IGL01860:Kcnc1 APN 7 46,077,554 (GRCm39) missense probably damaging 1.00
IGL02075:Kcnc1 APN 7 46,077,397 (GRCm39) missense probably damaging 1.00
IGL02478:Kcnc1 APN 7 46,084,593 (GRCm39) missense probably benign 0.18
Evanescent UTSW 7 46,077,383 (GRCm39) missense probably damaging 1.00
Subtilis UTSW 7 46,077,245 (GRCm39) missense probably damaging 1.00
wispy UTSW 7 46,076,821 (GRCm39) missense probably damaging 1.00
R1438:Kcnc1 UTSW 7 46,077,691 (GRCm39) missense possibly damaging 0.81
R1487:Kcnc1 UTSW 7 46,084,772 (GRCm39) critical splice donor site probably null
R1487:Kcnc1 UTSW 7 46,047,298 (GRCm39) missense possibly damaging 0.88
R1595:Kcnc1 UTSW 7 46,077,010 (GRCm39) missense probably benign 0.25
R2345:Kcnc1 UTSW 7 46,047,370 (GRCm39) missense probably damaging 1.00
R4126:Kcnc1 UTSW 7 46,047,426 (GRCm39) missense probably damaging 0.98
R4387:Kcnc1 UTSW 7 46,047,126 (GRCm39) missense possibly damaging 0.89
R4388:Kcnc1 UTSW 7 46,047,126 (GRCm39) missense possibly damaging 0.89
R4508:Kcnc1 UTSW 7 46,077,712 (GRCm39) missense probably benign 0.15
R4688:Kcnc1 UTSW 7 46,047,259 (GRCm39) missense probably benign 0.01
R4784:Kcnc1 UTSW 7 46,086,711 (GRCm39) missense probably benign 0.00
R5293:Kcnc1 UTSW 7 46,047,235 (GRCm39) missense probably benign 0.01
R5993:Kcnc1 UTSW 7 46,076,956 (GRCm39) missense probably damaging 1.00
R6296:Kcnc1 UTSW 7 46,084,740 (GRCm39) missense probably benign 0.00
R6512:Kcnc1 UTSW 7 46,076,821 (GRCm39) missense probably damaging 1.00
R6678:Kcnc1 UTSW 7 46,047,229 (GRCm39) missense probably benign 0.30
R6801:Kcnc1 UTSW 7 46,084,716 (GRCm39) missense probably damaging 0.99
R7232:Kcnc1 UTSW 7 46,077,383 (GRCm39) missense probably damaging 1.00
R7886:Kcnc1 UTSW 7 46,077,045 (GRCm39) missense probably damaging 1.00
R7899:Kcnc1 UTSW 7 46,077,245 (GRCm39) missense probably damaging 1.00
R7998:Kcnc1 UTSW 7 46,047,223 (GRCm39) missense probably benign 0.01
R8990:Kcnc1 UTSW 7 46,077,733 (GRCm39) makesense probably null
R9347:Kcnc1 UTSW 7 46,077,034 (GRCm39) missense probably damaging 1.00
R9562:Kcnc1 UTSW 7 46,077,010 (GRCm39) missense probably benign 0.25
R9565:Kcnc1 UTSW 7 46,077,010 (GRCm39) missense probably benign 0.25
R9691:Kcnc1 UTSW 7 46,076,955 (GRCm39) nonsense probably null
X0022:Kcnc1 UTSW 7 46,084,664 (GRCm39) missense probably benign
X0054:Kcnc1 UTSW 7 46,047,316 (GRCm39) missense probably damaging 1.00
Y5406:Kcnc1 UTSW 7 46,076,803 (GRCm39) missense probably benign 0.00
Z1177:Kcnc1 UTSW 7 46,047,276 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCCCCAACAAGGTGGAATTC -3'
(R):5'- AGTGTCGTCATGGTGACCAC -3'

Sequencing Primer
(F):5'- CAAGGTGGAATTCATCAAGAACTC -3'
(R):5'- TCATGGTGACCACAGCCC -3'
Posted On 2014-10-16