Incidental Mutation 'R4627:Kcnd3'
ID 348843
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 041892-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4627 (G1)
Quality Score 225
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.4%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a A T 12: 113,508,569 (GRCm39) D314V probably benign Het
Adamts18 C T 8: 114,499,800 (GRCm39) W371* probably null Het
Adamtsl2 T A 2: 26,983,597 (GRCm39) L331Q probably damaging Het
Akr1c13 G T 13: 4,247,869 (GRCm39) V214F probably damaging Het
Aldoart1 T C 4: 72,770,680 (GRCm39) T43A probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Ano7 T C 1: 93,302,907 (GRCm39) I15T probably benign Het
Aopep T C 13: 63,215,906 (GRCm39) S393P probably benign Het
Aox3 A T 1: 58,164,194 (GRCm39) T155S probably damaging Het
Ap2a1 C T 7: 44,553,843 (GRCm39) V535M probably damaging Het
Apbb2 C T 5: 66,557,419 (GRCm39) probably null Het
Astn1 C A 1: 158,329,821 (GRCm39) H225Q possibly damaging Het
Atm A G 9: 53,367,806 (GRCm39) I2439T possibly damaging Het
Atp1b2 T A 11: 69,492,160 (GRCm39) I263F probably damaging Het
Ccdc184 A T 15: 98,066,638 (GRCm39) N148Y probably benign Het
Cdca7 TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA 2: 72,312,205 (GRCm39) probably benign Het
Cep192 C G 18: 67,945,440 (GRCm39) P180R probably benign Het
Cfap46 T C 7: 139,237,197 (GRCm39) Y571C probably damaging Het
Cfap46 A T 7: 139,260,843 (GRCm39) L85Q probably damaging Het
Chchd6 G A 6: 89,361,642 (GRCm39) L226F probably damaging Het
Cnot6l A G 5: 96,225,070 (GRCm39) V541A probably benign Het
Cobl T C 11: 12,201,093 (GRCm39) E1214G probably damaging Het
Cpsf2 G A 12: 101,956,154 (GRCm39) R319Q probably benign Het
Csdc2 T C 15: 81,833,324 (GRCm39) V107A probably benign Het
Csmd1 A G 8: 16,747,933 (GRCm39) W273R probably benign Het
Dnah2 T A 11: 69,356,202 (GRCm39) N2156I probably damaging Het
Dsp A G 13: 38,352,617 (GRCm39) Y165C probably benign Het
Exoc1 T C 5: 76,690,075 (GRCm39) V205A probably benign Het
Fam98c T C 7: 28,854,693 (GRCm39) T49A possibly damaging Het
Fbln2 G T 6: 91,236,749 (GRCm39) V755L probably damaging Het
Fhad1 A T 4: 141,623,779 (GRCm39) V1371D possibly damaging Het
Folh1 A T 7: 86,422,460 (GRCm39) M59K probably benign Het
Foxf2 A T 13: 31,810,871 (GRCm39) H270L probably benign Het
Gm14401 G A 2: 176,778,109 (GRCm39) R65H probably benign Het
Gpn1 C A 5: 31,655,737 (GRCm39) Y592* probably null Het
Hmcn1 T G 1: 150,471,645 (GRCm39) D4903A probably benign Het
Hnf1a T C 5: 115,093,930 (GRCm39) R220G probably damaging Het
Hoxd10 G A 2: 74,522,636 (GRCm39) A105T probably benign Het
Kidins220 C T 12: 25,107,041 (GRCm39) T1498I possibly damaging Het
Klhl2 G T 8: 65,211,225 (GRCm39) Y274* probably null Het
Lmbrd1 A G 1: 24,745,080 (GRCm39) Y140C probably damaging Het
Mapk8ip3 G A 17: 25,122,267 (GRCm39) T706I probably benign Het
Mast4 A C 13: 103,470,529 (GRCm39) S58A possibly damaging Het
Mcm6 T C 1: 128,279,285 (GRCm39) D167G probably benign Het
Mmachc A T 4: 116,560,668 (GRCm39) S276T probably damaging Het
Nfat5 A T 8: 108,095,908 (GRCm39) Q1289L probably damaging Het
Nlrc4 G T 17: 74,753,623 (GRCm39) F253L probably damaging Het
Nr1i3 C A 1: 171,044,014 (GRCm39) A112E probably benign Het
Or10ac1 T A 6: 42,515,375 (GRCm39) T194S possibly damaging Het
Or13a17 T A 7: 140,271,291 (GRCm39) S158T probably benign Het
Or2b28 T C 13: 21,531,634 (GRCm39) F179L probably damaging Het
Or7g33 G T 9: 19,448,969 (GRCm39) Q86K possibly damaging Het
Orc5 G T 5: 22,753,003 (GRCm39) F10L probably benign Het
Pde10a A C 17: 9,200,484 (GRCm39) D779A probably damaging Het
Pde4b T C 4: 102,458,802 (GRCm39) L486S probably damaging Het
Pex2 A T 3: 5,626,341 (GRCm39) I156N probably damaging Het
Phtf2 C T 5: 20,978,738 (GRCm39) R63Q probably damaging Het
Prag1 A G 8: 36,570,446 (GRCm39) Y343C probably damaging Het
Prdm16 A T 4: 154,451,697 (GRCm39) Y170N probably damaging Het
Prpf6 A C 2: 181,243,267 (GRCm39) K5T probably damaging Het
Ptpn1 A G 2: 167,809,701 (GRCm39) K103R probably benign Het
Ralgapa2 A G 2: 146,203,373 (GRCm39) S1159P possibly damaging Het
Rapgef3 G T 15: 97,656,810 (GRCm39) D318E probably damaging Het
Ripk4 A T 16: 97,545,226 (GRCm39) S474T probably damaging Het
Rmi1 A G 13: 58,556,950 (GRCm39) R400G probably benign Het
Sec16a A G 2: 26,319,405 (GRCm39) V1491A probably damaging Het
Sec16a C T 2: 26,321,080 (GRCm39) probably null Het
Setd7 G T 3: 51,450,086 (GRCm39) N113K probably damaging Het
Shank2 C T 7: 143,965,161 (GRCm39) T1502M probably damaging Het
Skor1 A T 9: 63,052,758 (GRCm39) C376S probably damaging Het
Slc12a3 A T 8: 95,056,012 (GRCm39) L49F probably benign Het
Slc35d3 C T 10: 19,725,077 (GRCm39) V260M probably damaging Het
Slc46a1 T A 11: 78,357,715 (GRCm39) V256E probably benign Het
Slc6a1 T C 6: 114,285,067 (GRCm39) S127P probably benign Het
Syngr4 A G 7: 45,536,452 (GRCm39) L190P probably damaging Het
Tagap G A 17: 8,145,773 (GRCm39) probably null Het
Tamm41 A T 6: 115,011,963 (GRCm39) N89K probably benign Het
Tbc1d31 T A 15: 57,831,308 (GRCm39) M922K probably benign Het
Tbk1 T C 10: 121,403,985 (GRCm39) N254S possibly damaging Het
Tfec A G 6: 16,840,478 (GRCm39) S140P probably damaging Het
Tnrc18 T C 5: 142,725,883 (GRCm39) E1802G unknown Het
Tom1l2 C T 11: 60,133,533 (GRCm39) probably null Het
Tonsl T G 15: 76,521,424 (GRCm39) K323Q probably damaging Het
Tsnaxip1 A T 8: 106,568,039 (GRCm39) E268D probably damaging Het
Ttf1 C A 2: 28,955,172 (GRCm39) H179N possibly damaging Het
Ttn T C 2: 76,556,517 (GRCm39) S30163G probably damaging Het
Ube2c A G 2: 164,614,093 (GRCm39) N143S possibly damaging Het
Ugt1a10 G A 1: 88,146,112 (GRCm39) R519Q probably damaging Het
Utp25 T C 1: 192,790,003 (GRCm39) T719A probably benign Het
Vmn2r9 T C 5: 108,995,463 (GRCm39) Y395C probably damaging Het
Vwa8 G A 14: 79,341,137 (GRCm39) probably null Het
Zfp9 A G 6: 118,441,937 (GRCm39) Y242H 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
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
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'- AGGCTAACTGAGGACATTGGTG -3'

Sequencing Primer
(F):5'- ACTTGTTTCCCACATGGCC -3'
(R):5'- CTAACTGAGGACATTGGTGGGTAG -3'
Posted On 2015-10-08