Incidental Mutation 'R4594:Kcnd3'
ID 344246
Institutional Source Beutler Lab
Gene Symbol Kcnd3
Ensembl Gene ENSMUSG00000040896
Gene Name potassium voltage-gated channel, Shal-related family, member 3
Synonyms Kv4.3, potassium channel Kv4.3L, potassium channel Kv4.3M
MMRRC Submission 041810-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4594 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 105359646-105581318 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 105566082 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 421 (A421V)
Ref Sequence ENSEMBL: ENSMUSP00000113436 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079169] [ENSMUST00000098761] [ENSMUST00000118360]
AlphaFold Q9Z0V1
Predicted Effect probably damaging
Transcript: ENSMUST00000079169
AA Change: A421V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078169
Gene: ENSMUSG00000040896
AA Change: A421V

DomainStartEndE-ValueType
Pfam:Shal-type 3 31 3.2e-17 PFAM
BTB 40 139 1.76e-16 SMART
Pfam:Ion_trans 182 414 6.6e-45 PFAM
Pfam:Ion_trans_2 327 408 9.5e-15 PFAM
Pfam:DUF3399 442 563 4.7e-46 PFAM
low complexity region 610 625 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098761
AA Change: A421V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096357
Gene: ENSMUSG00000040896
AA Change: A421V

DomainStartEndE-ValueType
Pfam:Shal-type 3 31 7.3e-19 PFAM
BTB 40 139 1.76e-16 SMART
transmembrane domain 180 202 N/A INTRINSIC
Pfam:Ion_trans 228 402 1e-31 PFAM
Pfam:Ion_trans_2 327 408 8.4e-15 PFAM
low complexity region 412 431 N/A INTRINSIC
Pfam:DUF3399 442 545 9.5e-52 PFAM
low complexity region 591 606 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000118360
AA Change: A421V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113436
Gene: ENSMUSG00000040896
AA Change: A421V

DomainStartEndE-ValueType
Pfam:Shal-type 3 31 3.2e-17 PFAM
BTB 40 139 1.76e-16 SMART
Pfam:Ion_trans 182 414 6.6e-45 PFAM
Pfam:Ion_trans_2 327 408 9.5e-15 PFAM
Pfam:DUF3399 442 563 4.7e-46 PFAM
low complexity region 610 625 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141694
Meta Mutation Damage Score 0.1470 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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 (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. Four sequence-related potassium channel genes - shaker, shaw, shab, and shal - have been identified in Drosophila, and each has been shown to have human homolog(s). This gene encodes a member of the potassium channel, voltage-gated, shal-related subfamily, members of which form voltage-activated A-type potassium ion channels and are prominent in the repolarization phase of the action potential. This member includes two isoforms with different sizes, which are encoded by alternatively spliced transcript variants of this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a reporter (null) allele are viable and fertile and exhibit normal cardiac morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,625,754 (GRCm39) T64A probably damaging Het
4933427I04Rik A T 4: 123,754,331 (GRCm39) T82S possibly damaging Het
Adamts15 A T 9: 30,832,743 (GRCm39) I264N probably damaging Het
Alpk1 G A 3: 127,477,203 (GRCm39) A285V probably damaging Het
Auh T C 13: 53,067,002 (GRCm39) probably benign Het
Cacna2d3 A G 14: 28,704,303 (GRCm39) F826S probably benign Het
Ccdc54 G T 16: 50,410,380 (GRCm39) Y295* probably null Het
Ctnna3 G A 10: 64,421,858 (GRCm39) V551I probably benign Het
Diaph3 C T 14: 87,223,473 (GRCm39) C347Y probably damaging Het
Dnajb5 A G 4: 42,950,842 (GRCm39) probably benign Het
Dscam A T 16: 96,519,196 (GRCm39) I847K possibly damaging Het
Fam8a1 T C 13: 46,824,742 (GRCm39) F243S probably damaging Het
Fat2 T C 11: 55,175,578 (GRCm39) I1712V possibly damaging Het
Fgfr1 T C 8: 26,063,852 (GRCm39) V793A probably damaging Het
Got2 T C 8: 96,598,814 (GRCm39) E196G probably benign Het
Gsk3b G A 16: 37,991,063 (GRCm39) C107Y possibly damaging Het
H2-M5 T C 17: 37,298,697 (GRCm39) T250A possibly damaging Het
Il17f T A 1: 20,848,026 (GRCm39) T151S probably damaging Het
Ints12 A G 3: 132,814,629 (GRCm39) N279D probably benign Het
Kynu T A 2: 43,569,902 (GRCm39) S395T probably benign Het
Llgl1 C T 11: 60,597,147 (GRCm39) T226I probably benign Het
Mael T A 1: 166,063,056 (GRCm39) Q132L probably damaging Het
Mcpt1 A T 14: 56,256,109 (GRCm39) R49S probably benign Het
Meioc G T 11: 102,564,992 (GRCm39) G203C probably damaging Het
Mfsd4b1 A G 10: 39,883,313 (GRCm39) S46P probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mx2 C A 16: 97,348,632 (GRCm39) Y268* probably null Het
Myom1 A G 17: 71,407,069 (GRCm39) D1064G possibly damaging Het
Nek11 A G 9: 105,270,046 (GRCm39) probably null Het
Nfe2 A G 15: 103,157,232 (GRCm39) L253S probably damaging Het
Nup205 T C 6: 35,173,424 (GRCm39) I478T probably benign Het
Nxpe2 T C 9: 48,230,782 (GRCm39) D529G probably damaging Het
Oard1 T C 17: 48,722,267 (GRCm39) S88P possibly damaging Het
Or11g25 A G 14: 50,723,619 (GRCm39) R235G probably benign Het
Or2p2 C T 13: 21,256,692 (GRCm39) V260I probably benign Het
Or4n4 G A 14: 50,519,140 (GRCm39) T190I probably benign Het
Or51k1 T C 7: 103,661,624 (GRCm39) D95G probably benign Het
Or52e5 T C 7: 104,718,797 (GRCm39) V41A probably benign Het
Or6k6 G T 1: 173,944,886 (GRCm39) T232N probably damaging Het
Or8b1 A C 9: 38,400,057 (GRCm39) H244P probably damaging Het
Osgin1 C T 8: 120,171,992 (GRCm39) T262I possibly damaging Het
Plcb4 A T 2: 135,844,519 (GRCm39) M146L probably damaging Het
Prkdc A T 16: 15,585,830 (GRCm39) E2456V possibly damaging Het
Ptk2 G A 15: 73,078,045 (GRCm39) A1004V probably damaging Het
Rab15 G A 12: 76,847,445 (GRCm39) probably benign Het
Rad51ap2 T C 12: 11,507,881 (GRCm39) V601A probably benign Het
Rasef T A 4: 73,698,626 (GRCm39) I12F possibly damaging Het
Rdh14 T A 12: 10,444,567 (GRCm39) N139K probably damaging Het
Rexo2 A T 9: 48,391,717 (GRCm39) V46E probably damaging Het
Rskr T A 11: 78,182,473 (GRCm39) V94D possibly damaging Het
Slmap A T 14: 26,186,772 (GRCm39) L68H probably damaging Het
Speer3 C G 5: 13,846,394 (GRCm39) A238G possibly damaging Het
Tmem132e T C 11: 82,325,894 (GRCm39) I206T possibly damaging Het
Trappc8 A T 18: 20,970,005 (GRCm39) V995E probably benign Het
Vmn2r12 A C 5: 109,234,301 (GRCm39) I637S probably damaging Het
Vmn2r124 T C 17: 18,294,231 (GRCm39) F773L probably damaging Het
Vmn2r99 A T 17: 19,613,924 (GRCm39) D548V probably damaging Het
Wdr81 T C 11: 75,336,620 (GRCm39) N1590D probably benign Het
Zbtb6 A T 2: 37,319,054 (GRCm39) N291K possibly damaging Het
Zfp119a G A 17: 56,173,325 (GRCm39) R173C probably benign Het
Zmynd15 T C 11: 70,355,008 (GRCm39) L335P probably damaging Het
Other mutations in Kcnd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02296:Kcnd3 APN 3 105,574,317 (GRCm39) nonsense probably null
PIT4498001:Kcnd3 UTSW 3 105,566,025 (GRCm39) missense probably damaging 0.99
R0483:Kcnd3 UTSW 3 105,366,942 (GRCm39) missense probably damaging 1.00
R0544:Kcnd3 UTSW 3 105,566,075 (GRCm39) missense probably damaging 1.00
R1457:Kcnd3 UTSW 3 105,575,502 (GRCm39) missense probably benign 0.00
R1853:Kcnd3 UTSW 3 105,367,068 (GRCm39) missense probably damaging 1.00
R2030:Kcnd3 UTSW 3 105,366,853 (GRCm39) missense probably damaging 1.00
R2077:Kcnd3 UTSW 3 105,574,315 (GRCm39) missense probably benign 0.16
R2106:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R2287:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R2288:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R2316:Kcnd3 UTSW 3 105,576,442 (GRCm39) missense probably benign 0.17
R2909:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R2924:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R2925:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3014:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3016:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3038:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3696:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3697:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3698:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3777:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3778:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3785:Kcnd3 UTSW 3 105,575,541 (GRCm39) missense possibly damaging 0.79
R3810:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3811:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3815:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3816:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3819:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3877:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3879:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R3899:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4300:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4367:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4370:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4491:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4549:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4550:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4569:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4571:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4593:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4595:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4624:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4625:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4627:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4630:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4631:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4632:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4799:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R4822:Kcnd3 UTSW 3 105,566,082 (GRCm39) missense probably damaging 1.00
R5021:Kcnd3 UTSW 3 105,566,070 (GRCm39) missense probably damaging 1.00
R5056:Kcnd3 UTSW 3 105,574,244 (GRCm39) intron probably benign
R5849:Kcnd3 UTSW 3 105,366,111 (GRCm39) utr 5 prime probably benign
R7198:Kcnd3 UTSW 3 105,366,856 (GRCm39) missense probably damaging 1.00
R7224:Kcnd3 UTSW 3 105,576,400 (GRCm39) missense probably damaging 0.98
R7532:Kcnd3 UTSW 3 105,575,526 (GRCm39) missense probably damaging 1.00
R7578:Kcnd3 UTSW 3 105,366,933 (GRCm39) missense probably benign 0.08
R7975:Kcnd3 UTSW 3 105,366,310 (GRCm39) missense probably damaging 1.00
R8022:Kcnd3 UTSW 3 105,366,189 (GRCm39) missense probably benign 0.19
R8823:Kcnd3 UTSW 3 105,574,330 (GRCm39) missense probably benign 0.00
R8986:Kcnd3 UTSW 3 105,367,039 (GRCm39) missense probably damaging 1.00
R9056:Kcnd3 UTSW 3 105,574,290 (GRCm39) missense possibly damaging 0.48
R9345:Kcnd3 UTSW 3 105,566,003 (GRCm39) missense probably damaging 1.00
R9513:Kcnd3 UTSW 3 105,572,863 (GRCm39) critical splice donor site probably null
Z1177:Kcnd3 UTSW 3 105,366,886 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ATGAAGCCCCACTTGTTTCC -3'
(R):5'- GCTAACTGAGGACATTGGTGG -3'

Sequencing Primer
(F):5'- ACTTGTTTCCCACATGGCC -3'
(R):5'- GGTAGGAGGATACAACACCGCC -3'
Posted On 2015-09-25