Incidental Mutation 'R7014:Kcns3'
ID 545210
Institutional Source Beutler Lab
Gene Symbol Kcns3
Ensembl Gene ENSMUSG00000043673
Gene Name potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3
Synonyms D12Ertd137e
MMRRC Submission 045115-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R7014 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 11140738-11201186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11141688 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 337 (I337N)
Ref Sequence ENSEMBL: ENSMUSP00000152026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055673] [ENSMUST00000164495] [ENSMUST00000217974]
AlphaFold Q8BQZ8
Predicted Effect probably damaging
Transcript: ENSMUST00000055673
AA Change: I337N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060706
Gene: ENSMUSG00000043673
AA Change: I337N

DomainStartEndE-ValueType
BTB 15 124 1.2e-12 SMART
low complexity region 144 162 N/A INTRINSIC
Pfam:Ion_trans 184 417 5.2e-47 PFAM
Pfam:Ion_trans_2 325 411 3.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000164495
AA Change: I337N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129412
Gene: ENSMUSG00000043673
AA Change: I337N

DomainStartEndE-ValueType
BTB 15 124 1.2e-12 SMART
low complexity region 144 162 N/A INTRINSIC
Pfam:Ion_trans 184 417 5.2e-47 PFAM
Pfam:Ion_trans_2 325 411 3.2e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000217974
AA Change: I337N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 99% (80/81)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Voltage-gated potassium channels form the largest and most diversified class of ion channels and are present in both excitable and nonexcitable cells. Their main functions are associated with the regulation of the resting membrane potential and the control of the shape and frequency of action potentials. The alpha subunits are of 2 types: those that are functional by themselves and those that are electrically silent but capable of modulating the activity of specific functional alpha subunits. The protein encoded by this gene is not functional by itself but can form heteromultimers with member 1 and with member 2 (and possibly other members) of the Shab-related subfamily of potassium voltage-gated channel proteins. This gene belongs to the S subfamily of the potassium channel family. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2013]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik C T 7: 27,278,198 (GRCm39) Q156* probably null Het
2700097O09Rik A G 12: 55,092,727 (GRCm39) I264T probably benign Het
Arid3a G T 10: 79,786,718 (GRCm39) M488I possibly damaging Het
Auts2 A G 5: 131,494,961 (GRCm39) F331S probably damaging Het
Axdnd1 T C 1: 156,158,532 (GRCm39) probably null Het
Bpifb5 C A 2: 154,066,876 (GRCm39) S43* probably null Het
Carhsp1 A G 16: 8,478,869 (GRCm39) V128A probably benign Het
Ccdc141 A G 2: 76,962,641 (GRCm39) V101A probably damaging Het
Cdk6 C G 5: 3,523,152 (GRCm39) L191V probably damaging Het
Cgnl1 T G 9: 71,632,416 (GRCm39) K312Q possibly damaging Het
Col6a1 T C 10: 76,557,277 (GRCm39) E225G probably damaging Het
Copg1 T A 6: 87,879,322 (GRCm39) L456Q probably damaging Het
Ctif T A 18: 75,570,279 (GRCm39) D540V possibly damaging Het
Cyfip1 T C 7: 55,569,241 (GRCm39) I917T probably benign Het
Cyth1 T C 11: 118,103,477 (GRCm39) D9G probably benign Het
Dnajb1 T C 8: 84,336,884 (GRCm39) I118T probably damaging Het
Ebna1bp2 T A 4: 118,480,575 (GRCm39) Y139* probably null Het
Efcab3 A G 11: 104,584,248 (GRCm39) T100A probably benign Het
Fam162a A T 16: 35,870,302 (GRCm39) V59E probably damaging Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Fmo6 C G 1: 162,753,877 (GRCm39) R112T probably benign Het
Gm17087 T A 17: 8,785,304 (GRCm39) D133V probably benign Het
Gm42669 A G 5: 107,656,142 (GRCm39) I802V probably benign Het
Gp2 T C 7: 119,050,868 (GRCm39) N288D probably damaging Het
Gstm7 C T 3: 107,834,278 (GRCm39) D196N probably benign Het
Hsph1 A T 5: 149,553,865 (GRCm39) V201D probably damaging Het
Il20ra T C 10: 19,588,458 (GRCm39) L26P unknown Het
Itpr1 T A 6: 108,408,459 (GRCm39) probably null Het
Kdm4d A G 9: 14,375,475 (GRCm39) Y128H probably damaging Het
Kirrel2 A G 7: 30,153,999 (GRCm39) I200T probably benign Het
Klhdc10 T A 6: 30,450,502 (GRCm39) I294N probably damaging Het
Map1a A C 2: 121,130,720 (GRCm39) N512T probably damaging Het
Marchf8 C G 6: 116,380,504 (GRCm39) C118W probably damaging Het
Marchf8 T G 6: 116,380,505 (GRCm39) C119G probably damaging Het
Mrpl38 G T 11: 116,025,741 (GRCm39) P195Q probably damaging Het
Ms4a4d A T 19: 11,525,947 (GRCm39) Q27L probably benign Het
Muc16 T A 9: 18,569,532 (GRCm39) T996S unknown Het
Mug1 C T 6: 121,838,084 (GRCm39) A438V probably benign Het
Mup7 T A 4: 60,069,866 (GRCm39) I33F probably damaging Het
Ndufa5 C T 6: 24,519,190 (GRCm39) probably null Het
Or2b7 A G 13: 21,740,108 (GRCm39) F28S probably benign Het
Or2l5 A T 16: 19,334,206 (GRCm39) F60Y probably benign Het
Or5w17 T C 2: 87,584,215 (GRCm39) I41V probably benign Het
Or5w1b A T 2: 87,476,320 (GRCm39) L49Q probably damaging Het
Or7e177 T A 9: 20,211,959 (GRCm39) C154* probably null Het
Parp9 T A 16: 35,780,433 (GRCm39) probably null Het
Pate8 C A 9: 36,493,854 (GRCm39) W26C unknown Het
Pbx1 T A 1: 168,258,949 (GRCm39) D42V probably damaging Het
Pde4dip G T 3: 97,622,738 (GRCm39) N1490K possibly damaging Het
Pdzd2 T C 15: 12,372,647 (GRCm39) N2496S probably benign Het
Pdzd2 A G 15: 12,373,061 (GRCm39) M2358T probably benign Het
Pglyrp2 C A 17: 32,634,904 (GRCm39) C486F probably damaging Het
Pi4ka A G 16: 17,114,931 (GRCm39) probably benign Het
Pknox2 T A 9: 36,820,963 (GRCm39) T300S probably damaging Het
Plekhm3 A G 1: 64,922,429 (GRCm39) I582T probably damaging Het
Prtg T C 9: 72,799,267 (GRCm39) Y766H possibly damaging Het
Prxl2a T C 14: 40,724,451 (GRCm39) E71G probably benign Het
Rabgap1 A G 2: 37,450,575 (GRCm39) E901G probably benign Het
Rabgap1l A T 1: 160,169,642 (GRCm39) N60K probably damaging Het
Rnf150 C T 8: 83,769,292 (GRCm39) T359I probably benign Het
Rps6ka2 C T 17: 7,523,331 (GRCm39) H236Y probably benign Het
Rrp1b T A 17: 32,268,401 (GRCm39) L120Q probably damaging Het
Scn7a C A 2: 66,572,303 (GRCm39) G223C probably null Het
Sema6a T A 18: 47,431,284 (GRCm39) N138I probably damaging Het
Septin5 T A 16: 18,443,659 (GRCm39) I97F probably damaging Het
Shcbp1 T A 8: 4,804,234 (GRCm39) E225D probably damaging Het
Slc25a19 A G 11: 115,511,792 (GRCm39) C124R probably damaging Het
Slc37a2 C T 9: 37,145,183 (GRCm39) A428T probably damaging Het
Slc5a12 A G 2: 110,474,709 (GRCm39) I538V probably benign Het
Slco4c1 A T 1: 96,751,506 (GRCm39) probably null Het
Smarcad1 T C 6: 65,029,654 (GRCm39) S81P probably damaging Het
Smyd1 T C 6: 71,215,611 (GRCm39) D116G probably damaging Het
Themis T C 10: 28,665,703 (GRCm39) Y589H probably benign Het
Trim30d T C 7: 104,132,543 (GRCm39) K248R probably benign Het
Tspan12 C T 6: 21,772,918 (GRCm39) M210I probably benign Het
Vmn2r11 T C 5: 109,201,289 (GRCm39) Y405C probably damaging Het
Wdfy3 A G 5: 102,042,775 (GRCm39) probably null Het
Wiz C A 17: 32,580,840 (GRCm39) A83S probably damaging Het
Zfp1002 A T 2: 150,097,182 (GRCm39) C82* probably null Het
Zmym6 T A 4: 127,017,337 (GRCm39) Y947* probably null Het
Other mutations in Kcns3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01010:Kcns3 APN 12 11,142,427 (GRCm39) missense probably benign 0.40
IGL01089:Kcns3 APN 12 11,141,572 (GRCm39) missense possibly damaging 0.92
IGL01448:Kcns3 APN 12 11,141,644 (GRCm39) missense possibly damaging 0.91
IGL02084:Kcns3 APN 12 11,142,195 (GRCm39) missense probably damaging 0.96
IGL02229:Kcns3 APN 12 11,142,093 (GRCm39) missense probably damaging 1.00
IGL02730:Kcns3 APN 12 11,142,076 (GRCm39) missense probably benign
IGL02820:Kcns3 APN 12 11,141,872 (GRCm39) missense probably benign 0.01
IGL03390:Kcns3 APN 12 11,141,233 (GRCm39) missense probably benign
PIT4696001:Kcns3 UTSW 12 11,142,749 (GRCm39) start gained probably benign
R0583:Kcns3 UTSW 12 11,141,479 (GRCm39) missense probably damaging 1.00
R0629:Kcns3 UTSW 12 11,142,559 (GRCm39) missense probably damaging 1.00
R1549:Kcns3 UTSW 12 11,142,084 (GRCm39) missense probably damaging 1.00
R1571:Kcns3 UTSW 12 11,141,551 (GRCm39) missense probably damaging 1.00
R1755:Kcns3 UTSW 12 11,141,445 (GRCm39) missense probably benign 0.09
R2507:Kcns3 UTSW 12 11,142,087 (GRCm39) missense possibly damaging 0.67
R4348:Kcns3 UTSW 12 11,141,382 (GRCm39) missense possibly damaging 0.85
R4667:Kcns3 UTSW 12 11,141,784 (GRCm39) missense probably damaging 1.00
R4750:Kcns3 UTSW 12 11,141,655 (GRCm39) missense probably damaging 1.00
R5704:Kcns3 UTSW 12 11,142,328 (GRCm39) missense probably benign 0.05
R5770:Kcns3 UTSW 12 11,142,250 (GRCm39) missense probably benign 0.15
R6882:Kcns3 UTSW 12 11,142,049 (GRCm39) missense probably benign 0.00
R7935:Kcns3 UTSW 12 11,141,718 (GRCm39) missense probably damaging 1.00
R8025:Kcns3 UTSW 12 11,141,846 (GRCm39) missense probably damaging 1.00
R8161:Kcns3 UTSW 12 11,169,764 (GRCm39) start gained probably benign
R8210:Kcns3 UTSW 12 11,142,253 (GRCm39) missense probably damaging 0.97
R8403:Kcns3 UTSW 12 11,141,654 (GRCm39) missense probably benign 0.09
R8726:Kcns3 UTSW 12 11,141,692 (GRCm39) missense probably damaging 1.00
R9175:Kcns3 UTSW 12 11,169,801 (GRCm39) start gained probably benign
R9287:Kcns3 UTSW 12 11,141,601 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GGAGGGCTACCACTAAGATTCC -3'
(R):5'- TGCTGCTCCATCACAAAAGAAG -3'

Sequencing Primer
(F):5'- CCACAGATAATACATGTGCTTGC -3'
(R):5'- GAAGTTCTGGAAAAACCCTCTG -3'
Posted On 2019-05-13