Incidental Mutation 'R0629:Kcns3'
ID 57773
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 038818-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # R0629 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 11140738-11201186 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 11142559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 47 (C47G)
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: C47G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000060706
Gene: ENSMUSG00000043673
AA Change: C47G

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: C47G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000129412
Gene: ENSMUSG00000043673
AA Change: C47G

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: C47G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.7899 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.6%
Validation Efficiency 100% (66/66)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 A T 17: 45,818,473 (GRCm39) D86V probably damaging Het
Adamts14 G A 10: 61,047,403 (GRCm39) Q733* probably null Het
Adcy10 A G 1: 165,370,674 (GRCm39) D651G probably damaging Het
Apcdd1 T A 18: 63,067,041 (GRCm39) C52S probably damaging Het
Bclaf1 T C 10: 20,209,172 (GRCm39) S463P probably damaging Het
Cabcoco1 T C 10: 68,352,108 (GRCm39) Y68C probably damaging Het
Cacna1f G A X: 7,486,673 (GRCm39) S888N probably damaging Het
Cacna1g A G 11: 94,300,369 (GRCm39) C2134R possibly damaging Het
Cdc37 A C 9: 21,052,064 (GRCm39) M325R possibly damaging Het
Clca3a2 T A 3: 144,778,000 (GRCm39) M762L probably benign Het
Cntn3 C T 6: 102,180,937 (GRCm39) V753M probably damaging Het
Col6a6 A T 9: 105,604,364 (GRCm39) probably benign Het
Dscaml1 A G 9: 45,632,716 (GRCm39) D1194G probably damaging Het
Egfr G A 11: 16,819,333 (GRCm39) G288S probably damaging Het
Fbxl17 G T 17: 63,778,409 (GRCm39) N19K probably damaging Het
Fmo3 A G 1: 162,785,796 (GRCm39) probably benign Het
Frmd6 T C 12: 70,930,536 (GRCm39) Y219H probably damaging Het
Fuca1 T C 4: 135,652,955 (GRCm39) V193A possibly damaging Het
Gm7461 C T 8: 4,727,769 (GRCm39) noncoding transcript Het
Gpc5 T A 14: 115,789,651 (GRCm39) N508K possibly damaging Het
Iqch A T 9: 63,332,664 (GRCm39) D1019E probably benign Het
Isyna1 A G 8: 71,047,358 (GRCm39) Y27C probably damaging Het
Itgb8 T G 12: 119,166,216 (GRCm39) H105P probably benign Het
Kbtbd11 C T 8: 15,077,572 (GRCm39) P57L probably benign Het
Kif21b A T 1: 136,099,895 (GRCm39) probably null Het
Lama3 A T 18: 12,552,302 (GRCm39) H418L possibly damaging Het
Lrit3 A G 3: 129,581,951 (GRCm39) Y679H probably damaging Het
Lrrc19 T A 4: 94,526,489 (GRCm39) D356V probably damaging Het
Morc2b A G 17: 33,354,781 (GRCm39) M997T probably benign Het
Mroh9 T C 1: 162,888,205 (GRCm39) H290R possibly damaging Het
Mtcl1 A T 17: 66,645,137 (GRCm39) S1886T possibly damaging Het
Muc20 T C 16: 32,613,791 (GRCm39) T529A possibly damaging Het
Myo7a A C 7: 97,734,673 (GRCm39) L607R probably damaging Het
Myom2 T A 8: 15,119,783 (GRCm39) F180I probably damaging Het
Myt1l G A 12: 29,861,484 (GRCm39) E89K unknown Het
Nek2 A G 1: 191,563,429 (GRCm39) N431S probably benign Het
Oprm1 A T 10: 6,782,604 (GRCm39) probably null Het
Or2aj4 A T 16: 19,384,730 (GRCm39) V301E possibly damaging Het
Or5t7 T A 2: 86,506,873 (GRCm39) H268L possibly damaging Het
Oxsr1 A G 9: 119,070,850 (GRCm39) probably benign Het
Pasd1 G C X: 70,982,379 (GRCm39) R296P possibly damaging Het
Pdgfrb G A 18: 61,211,720 (GRCm39) probably null Het
Proser1 C A 3: 53,386,485 (GRCm39) P789Q probably benign Het
Ptgs2 A G 1: 149,976,788 (GRCm39) Q7R probably benign Het
Rab3d A G 9: 21,825,982 (GRCm39) V144A probably benign Het
Ralgapb T A 2: 158,281,467 (GRCm39) L167H probably damaging Het
Ranbp3 A G 17: 57,015,200 (GRCm39) T301A possibly damaging Het
Rasgrf1 G A 9: 89,866,322 (GRCm39) V587M probably damaging Het
Sec16b A G 1: 157,392,433 (GRCm39) probably benign Het
Sin3b T C 8: 73,480,164 (GRCm39) probably benign Het
Slc10a2 T C 8: 5,148,562 (GRCm39) S128G probably benign Het
Tbl1xr1 G A 3: 22,264,565 (GRCm39) V507I probably benign Het
Tmem8b T G 4: 43,669,896 (GRCm39) probably null Het
Trak1 A T 9: 121,196,233 (GRCm39) T22S probably benign Het
Trim30d A G 7: 104,136,862 (GRCm39) I114T probably damaging Het
Ttc13 A T 8: 125,401,105 (GRCm39) S624T probably damaging Het
Ttn T C 2: 76,658,474 (GRCm39) probably benign Het
Vipr1 T A 9: 121,489,237 (GRCm39) Y99* probably null Het
Vmn1r210 T C 13: 23,012,044 (GRCm39) K81E probably damaging Het
Wwc1 T C 11: 35,744,299 (GRCm39) Y841C probably benign Het
Xrcc4 A G 13: 90,149,024 (GRCm39) probably benign Het
Zdhhc22 A T 12: 87,035,071 (GRCm39) I127N probably damaging Het
Zdhhc7 A G 8: 120,814,785 (GRCm39) L8P possibly damaging Het
Zfp664 C A 5: 124,962,659 (GRCm39) L18I probably damaging 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
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
R7014:Kcns3 UTSW 12 11,141,688 (GRCm39) missense probably damaging 1.00
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'- AGGAGTCTGTGCTCACATCGTTGC -3'
(R):5'- AGTCAGGCCATTCTCCCACAAAGG -3'

Sequencing Primer
(F):5'- CTGCTACAGCAGGAGTCAATG -3'
(R):5'- GCACAGGCTAATATTGTCTTGTC -3'
Posted On 2013-07-11