Incidental Mutation 'R3698:Kcnd3'
ID 269881
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3698 (G1)
Quality Score 187
Status Not 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: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 C A 19: 56,904,955 (GRCm39) S549I possibly damaging Het
Aldh4a1 A G 4: 139,369,562 (GRCm39) H371R possibly damaging Het
Arpc1a G T 5: 145,033,001 (GRCm39) K103N probably damaging Het
Btg3 A G 16: 78,161,722 (GRCm39) S136P probably benign Het
Ckap5 C A 2: 91,450,511 (GRCm39) T2014K probably benign Het
Dennd10 A G 19: 60,821,054 (GRCm39) probably null Het
Emc1 T G 4: 139,092,697 (GRCm39) S546A possibly damaging Het
G3bp2 T C 5: 92,204,139 (GRCm39) E316G possibly damaging Het
Il12a TCAC TC 3: 68,605,320 (GRCm39) probably null Het
Il6st T G 13: 112,640,916 (GRCm39) D897E probably benign Het
Ipo13 A G 4: 117,757,890 (GRCm39) L767P probably damaging Het
Klhl13 G A X: 23,114,422 (GRCm39) T94I probably benign Het
Morc2a A T 11: 3,629,672 (GRCm39) K364* probably null Het
Nat8f2 T A 6: 85,844,778 (GRCm39) T195S probably benign Het
Nckipsd G A 9: 108,688,320 (GRCm39) G83S probably damaging Het
Nfu1 A G 6: 86,992,634 (GRCm39) T83A probably damaging Het
Nid1 G A 13: 13,661,344 (GRCm39) C748Y probably damaging Het
Or1af1 C T 2: 37,110,188 (GRCm39) P229L probably damaging Het
Or5w15 T C 2: 87,568,360 (GRCm39) T103A probably benign Het
Rgs22 C T 15: 36,100,038 (GRCm39) V226I probably benign Het
Slc13a4 T A 6: 35,251,892 (GRCm39) I467F probably benign Het
Stat2 T A 10: 128,114,662 (GRCm39) L253Q probably benign Het
Tnxb G T 17: 34,909,407 (GRCm39) probably null Het
Ttn C T 2: 76,564,595 (GRCm39) R28514H probably damaging Het
Usp15 T C 10: 123,017,643 (GRCm39) D51G probably damaging Het
Uvrag T C 7: 98,589,150 (GRCm39) E417G 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
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
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'- ATGAAGCCCCACTTGTTTCC -3'
(R):5'- GCTAACTGAGGACATTGGTGG -3'

Sequencing Primer
(F):5'- ACTTGTTTCCCACATGGCC -3'
(R):5'- GGTAGGAGGATACAACACCGCC -3'
Posted On 2015-03-18