Incidental Mutation 'R4630:Kcnd3'
ID 349099
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 041895-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4630 (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: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110070M22Rik A T 13: 119,624,622 (GRCm39) probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
BC024139 T G 15: 76,009,294 (GRCm39) Q240P probably benign Het
Bckdha A T 7: 25,330,884 (GRCm39) I44N probably damaging Het
Brpf1 T C 6: 113,286,867 (GRCm39) Y32H probably damaging Het
Catip A G 1: 74,408,072 (GRCm39) probably benign Het
Ccdc138 T C 10: 58,409,477 (GRCm39) L602P probably damaging Het
Cilp A T 9: 65,187,162 (GRCm39) T1086S probably benign Het
Comp A T 8: 70,827,032 (GRCm39) I58F possibly damaging Het
Crygs T C 16: 22,624,268 (GRCm39) E113G possibly damaging Het
Dnmt3b C T 2: 153,512,235 (GRCm39) R319* probably null Het
Eif3a A G 19: 60,758,366 (GRCm39) I804T unknown Het
Eif3a A T 19: 60,766,424 (GRCm39) H301Q probably benign Het
Elf3 A T 1: 135,184,478 (GRCm39) probably benign Het
Fads2b C A 2: 85,348,990 (GRCm39) G41* probably null Het
Gm10384 A G 15: 36,872,017 (GRCm39) noncoding transcript Het
Gm11627 T A 11: 102,469,657 (GRCm39) probably benign Het
Gpr183 A T 14: 122,192,261 (GRCm39) Y87N probably damaging Het
Gpr183 G C 14: 122,192,262 (GRCm39) Y86* probably null Het
Gpr26 T C 7: 131,568,709 (GRCm39) V18A probably damaging Het
Herc1 T A 9: 66,340,996 (GRCm39) probably null Het
Hint2 C T 4: 43,656,396 (GRCm39) probably benign Het
Jag1 A T 2: 136,927,899 (GRCm39) D837E probably damaging Het
Jmjd1c C A 10: 66,993,753 (GRCm39) S78* probably null Het
Krt1 C T 15: 101,754,622 (GRCm39) G543S unknown Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lama1 T A 17: 68,101,295 (GRCm39) D1929E probably benign Het
Macf1 T C 4: 123,367,432 (GRCm39) K878R possibly damaging Het
Mboat4 T C 8: 34,591,108 (GRCm39) S182P probably damaging Het
Muc5b A T 7: 141,411,721 (GRCm39) T1556S unknown Het
Myo1g T C 11: 6,469,047 (GRCm39) Y85C probably damaging Het
Ncapd2 C A 6: 125,156,196 (GRCm39) probably null Het
Nox3 T C 17: 3,744,257 (GRCm39) D96G possibly damaging Het
Or10a48 T C 7: 108,424,802 (GRCm39) M135V probably damaging Het
Or1e17 T C 11: 73,831,822 (GRCm39) L250P probably damaging Het
Or6c212 A G 10: 129,559,350 (GRCm39) L21P probably damaging Het
Pacs1 C T 19: 5,206,384 (GRCm39) probably null Het
Pgap4 C G 4: 49,586,254 (GRCm39) V305L probably benign Het
Pgm5 C A 19: 24,812,110 (GRCm39) G141* probably null Het
Pik3r4 A G 9: 105,532,098 (GRCm39) M557V probably benign Het
Pld4 T A 12: 112,731,498 (GRCm39) V217D probably damaging Het
Pphln1-ps1 T C 16: 13,495,278 (GRCm39) S126P probably damaging Het
Ppp1r3c T C 19: 36,710,915 (GRCm39) E285G probably benign Het
Pradc1 T A 6: 85,424,275 (GRCm39) M24L possibly damaging Het
Prepl T C 17: 85,390,659 (GRCm39) T100A probably benign Het
Rmi2 C T 16: 10,704,073 (GRCm39) T138I probably benign Het
Rtkn A T 6: 83,129,163 (GRCm39) K540* probably null Het
Sag C A 1: 87,762,340 (GRCm39) T335K probably damaging Het
Setd4 A G 16: 93,388,114 (GRCm39) L124P probably benign Het
Sh3gl2 A G 4: 85,297,646 (GRCm39) D208G probably damaging Het
Sult4a1 T C 15: 83,989,779 (GRCm39) T8A possibly damaging Het
Tert A G 13: 73,797,110 (GRCm39) D1116G probably damaging Het
Tlr4 A G 4: 66,757,477 (GRCm39) E90G probably benign Het
Tmem123 T C 9: 7,791,393 (GRCm39) L164P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trak1 G A 9: 121,283,491 (GRCm39) R419Q probably benign Het
Trp53bp1 G T 2: 121,038,368 (GRCm39) A1490D probably damaging Het
Ttc16 T C 2: 32,665,389 (GRCm39) probably benign Het
Tyw5 T A 1: 57,427,686 (GRCm39) Q306L probably damaging Het
Ube2j2 T A 4: 156,039,715 (GRCm39) I14N probably damaging Het
Vmn2r103 T C 17: 20,013,958 (GRCm39) I250T probably benign Het
Zar1 A G 5: 72,738,249 (GRCm39) V51A probably benign Het
Zbtb38 T G 9: 96,570,904 (GRCm39) N60T probably damaging Het
Zfp354a T C 11: 50,961,045 (GRCm39) S417P probably damaging Het
Zfp410 A T 12: 84,372,510 (GRCm39) D112V probably damaging Het
Zfp518a C T 19: 40,901,423 (GRCm39) Q451* probably null Het
Zfp64 T C 2: 168,768,463 (GRCm39) N383S possibly damaging Het
Zfp687 A T 3: 94,919,799 (GRCm39) probably null 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
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
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 2015-10-08