Incidental Mutation 'R4491:Kcnd3'
ID 330713
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 041747-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4491 (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: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C A 5: 64,055,812 (GRCm39) P183T probably damaging Het
Bcan G A 3: 87,897,540 (GRCm39) R682* probably null Het
Bzw1 T A 1: 58,443,418 (GRCm39) L410Q probably damaging Het
Cdh5 A T 8: 104,839,672 (GRCm39) I48F probably damaging Het
Cdhr5 T C 7: 140,853,970 (GRCm39) N173D possibly damaging Het
Cfap74 T C 4: 155,513,628 (GRCm39) M480T probably benign Het
Col6a5 C T 9: 105,817,211 (GRCm39) A367T unknown Het
Cpsf1 A C 15: 76,481,922 (GRCm39) Y1064D possibly damaging Het
Defb6 A T 8: 19,278,090 (GRCm39) H54L probably benign Het
Dmtf1 A G 5: 9,190,379 (GRCm39) probably benign Het
Dnah12 T C 14: 26,455,758 (GRCm39) L827S possibly damaging Het
Dnai4 T C 4: 102,923,596 (GRCm39) E411G probably benign Het
Dsc3 T C 18: 20,134,922 (GRCm39) T21A probably benign Het
Epb41l1 G T 2: 156,364,088 (GRCm39) D866Y probably benign Het
Epha1 T C 6: 42,337,600 (GRCm39) M860V probably damaging Het
Far2 T C 6: 148,074,907 (GRCm39) L380P possibly damaging Het
Fgd5 A G 6: 91,966,280 (GRCm39) I680V possibly damaging Het
Fnbp4 T C 2: 90,583,312 (GRCm39) probably null Het
Focad G A 4: 88,278,142 (GRCm39) probably null Het
Gm14180 T A 11: 99,621,139 (GRCm39) probably benign Het
Hbb-bh2 T C 7: 103,489,622 (GRCm39) T5A probably benign Het
Ighv7-2 A G 12: 113,876,100 (GRCm39) F2L probably benign Het
Igsf5 A G 16: 96,165,281 (GRCm39) T19A probably benign Het
Klb A G 5: 65,533,137 (GRCm39) N482S probably benign Het
Lipo2 A C 19: 33,699,100 (GRCm39) L310R probably damaging Het
Mc3r A G 2: 172,091,123 (GRCm39) H115R possibly damaging Het
Meioc A G 11: 102,565,746 (GRCm39) D398G possibly damaging Het
Or10ag60 G A 2: 87,437,736 (GRCm39) M1I probably null Het
Or56a5 A T 7: 104,792,983 (GRCm39) C172* probably null Het
Or7a37 T C 10: 78,806,151 (GRCm39) S223P probably damaging Het
Pds5a T C 5: 65,792,780 (GRCm39) T718A probably benign Het
Pdzd2 C T 15: 12,385,723 (GRCm39) D1016N possibly damaging Het
Pla2g2c T C 4: 138,461,719 (GRCm39) probably null Het
Plch1 T C 3: 63,648,160 (GRCm39) I404V probably damaging Het
Pou2af3 A G 9: 51,181,955 (GRCm39) F206L probably benign Het
Ppp2r5c A T 12: 110,546,956 (GRCm39) D522V possibly damaging Het
Prex2 T A 1: 11,232,487 (GRCm39) S851R probably benign Het
Rapgef1 C T 2: 29,609,668 (GRCm39) P702S possibly damaging Het
Rasal3 T A 17: 32,610,359 (GRCm39) D976V probably damaging Het
Rasef A C 4: 73,652,740 (GRCm39) L587R probably damaging Het
Rptn A T 3: 93,303,818 (GRCm39) R384* probably null Het
Sema6a G A 18: 47,439,524 (GRCm39) probably benign Het
Sycp2 G T 2: 178,016,778 (GRCm39) T608K probably damaging Het
Syde1 C T 10: 78,426,062 (GRCm39) R35H probably benign Het
Taf1 G T X: 100,586,665 (GRCm39) M313I possibly damaging Het
Taf15 A T 11: 83,375,520 (GRCm39) T31S probably benign Het
Tktl2 T C 8: 66,964,664 (GRCm39) V74A probably damaging Het
Tle4 A G 19: 14,432,229 (GRCm39) V489A probably damaging Het
Tmem30a T C 9: 79,684,567 (GRCm39) H95R probably damaging Het
Trmt9b G A 8: 36,972,760 (GRCm39) C70Y probably damaging Het
Vmn1r75 C A 7: 11,614,909 (GRCm39) Q214K probably damaging Het
Vps13c C T 9: 67,817,475 (GRCm39) T1049M probably benign Het
Zfp37 T C 4: 62,110,365 (GRCm39) Q274R probably benign Het
Zfp648 T G 1: 154,080,873 (GRCm39) L344R 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
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
R4594: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'- GCTATGAAGCCCCACTTGTTTC -3'
(R):5'- GCTAACTGAGGACATTGGTGGG -3'

Sequencing Primer
(F):5'- ACTTGTTTCCCACATGGCC -3'
(R):5'- GTAGGAGGATACAACACCGCC -3'
Posted On 2015-07-21