Incidental Mutation 'IGL03119:Kcnd2'
ID 409911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnd2
Ensembl Gene ENSMUSG00000060882
Gene Name potassium voltage-gated channel, Shal-related family, member 2
Synonyms Kv4.2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.124) question?
Stock # IGL03119
Quality Score
Status
Chromosome 6
Chromosomal Location 21215503-21729805 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 21216509 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Stop codon at position 71 (E71*)
Ref Sequence ENSEMBL: ENSMUSP00000080257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081542]
AlphaFold Q9Z0V2
Predicted Effect probably null
Transcript: ENSMUST00000081542
AA Change: E71*
SMART Domains Protein: ENSMUSP00000080257
Gene: ENSMUSG00000060882
AA Change: E71*

DomainStartEndE-ValueType
Pfam:Shal-type 3 31 4.5e-16 PFAM
BTB 41 140 3.42e-14 SMART
Pfam:Ion_trans 184 417 1.4e-44 PFAM
Pfam:Ion_trans_2 330 411 5.5e-15 PFAM
low complexity region 418 437 N/A INTRINSIC
Pfam:DUF3399 445 546 5.5e-44 PFAM
low complexity region 594 608 N/A INTRINSIC
Coding Region Coverage
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 mediates a rapidly inactivating, A-type outward potassium current which is not under the control of the N terminus as it is in Shaker channels. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene reduces A-type currents in spinal cord dorsal horn neurons and increases their excitability, resulting in enhanced sensitivity to tactile and thermal stimuli. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,714,887 (GRCm38) T626A probably benign Het
Adcy1 C T 11: 7,109,051 (GRCm38) T319I probably damaging Het
Adgrv1 A G 13: 81,382,373 (GRCm38) S5861P probably damaging Het
Adgrv1 A C 13: 81,433,700 (GRCm38) C4742G probably benign Het
Arid5b A T 10: 68,243,227 (GRCm38) D93E probably damaging Het
Atp6v1h A G 1: 5,095,669 (GRCm38) T121A probably benign Het
Atxn7 C T 14: 14,100,734 (GRCm38) L807F probably damaging Het
Cep104 A C 4: 153,981,724 (GRCm38) K126N probably damaging Het
Dcaf6 T C 1: 165,339,976 (GRCm38) E708G probably damaging Het
Dst A G 1: 34,161,062 (GRCm38) Y107C probably damaging Het
E2f3 A G 13: 29,985,365 (GRCm38) S102P probably benign Het
Eif3e A C 15: 43,265,604 (GRCm38) S207A probably benign Het
Etl4 A G 2: 20,713,387 (GRCm38) Y313C probably damaging Het
Fyttd1 T C 16: 32,900,695 (GRCm38) V121A probably benign Het
Gstk1 T C 6: 42,249,899 (GRCm38) S200P probably damaging Het
Ifrd1 A T 12: 40,212,334 (GRCm38) F244L probably null Het
Ints7 T C 1: 191,610,365 (GRCm38) V491A probably damaging Het
Ltbp3 A T 19: 5,757,443 (GRCm38) Q1123L probably damaging Het
Myo5a A G 9: 75,174,015 (GRCm38) T961A probably benign Het
Naa25 T A 5: 121,434,978 (GRCm38) V720E probably null Het
Olfr1480 T C 19: 13,530,435 (GRCm38) I298T probably benign Het
Olfr599 A G 7: 103,338,722 (GRCm38) I223V probably damaging Het
Pcdhb15 C A 18: 37,475,014 (GRCm38) T433N probably damaging Het
Peli1 T C 11: 21,140,560 (GRCm38) probably benign Het
Ptbp1 T C 10: 79,859,624 (GRCm38) V209A probably damaging Het
Ranbp2 A G 10: 58,452,003 (GRCm38) Y31C probably damaging Het
Smg1 G A 7: 118,195,113 (GRCm38) probably benign Het
Stat2 A G 10: 128,283,517 (GRCm38) M457V probably benign Het
Trpm6 G T 19: 18,838,017 (GRCm38) E1156* probably null Het
Usp53 T A 3: 122,961,415 (GRCm38) R130S possibly damaging Het
Vwa5b1 A G 4: 138,606,541 (GRCm38) S193P probably benign Het
Xrn2 A G 2: 147,042,872 (GRCm38) I626V probably damaging Het
Zfp574 G A 7: 25,080,473 (GRCm38) A307T probably benign Het
Other mutations in Kcnd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Kcnd2 APN 6 21,714,154 (GRCm38) missense possibly damaging 0.90
IGL01124:Kcnd2 APN 6 21,217,217 (GRCm38) missense probably damaging 1.00
IGL01317:Kcnd2 APN 6 21,727,340 (GRCm38) makesense probably null
IGL01534:Kcnd2 APN 6 21,726,145 (GRCm38) missense probably benign
IGL02623:Kcnd2 APN 6 21,726,195 (GRCm38) missense probably benign 0.05
IGL02682:Kcnd2 APN 6 21,216,925 (GRCm38) nonsense probably null
IGL02874:Kcnd2 APN 6 21,216,923 (GRCm38) missense probably damaging 1.00
IGL02982:Kcnd2 APN 6 21,217,149 (GRCm38) missense probably damaging 1.00
IGL02983:Kcnd2 APN 6 21,216,555 (GRCm38) missense probably damaging 1.00
IGL03154:Kcnd2 APN 6 21,216,708 (GRCm38) missense probably damaging 1.00
IGL03174:Kcnd2 APN 6 21,216,516 (GRCm38) missense possibly damaging 0.93
IGL03296:Kcnd2 APN 6 21,714,209 (GRCm38) missense probably damaging 1.00
R0062:Kcnd2 UTSW 6 21,727,226 (GRCm38) missense possibly damaging 0.80
R0062:Kcnd2 UTSW 6 21,727,226 (GRCm38) missense possibly damaging 0.80
R0325:Kcnd2 UTSW 6 21,216,683 (GRCm38) missense probably damaging 0.99
R0771:Kcnd2 UTSW 6 21,216,442 (GRCm38) missense probably damaging 1.00
R0836:Kcnd2 UTSW 6 21,727,329 (GRCm38) missense probably damaging 1.00
R0836:Kcnd2 UTSW 6 21,726,239 (GRCm38) splice site probably benign
R0884:Kcnd2 UTSW 6 21,216,541 (GRCm38) missense probably benign
R1434:Kcnd2 UTSW 6 21,216,357 (GRCm38) missense probably damaging 1.00
R2116:Kcnd2 UTSW 6 21,216,432 (GRCm38) missense probably damaging 1.00
R3863:Kcnd2 UTSW 6 21,217,263 (GRCm38) nonsense probably null
R3939:Kcnd2 UTSW 6 21,217,096 (GRCm38) missense probably damaging 1.00
R4427:Kcnd2 UTSW 6 21,216,897 (GRCm38) missense probably damaging 0.99
R4561:Kcnd2 UTSW 6 21,216,396 (GRCm38) missense probably benign
R4707:Kcnd2 UTSW 6 21,723,212 (GRCm38) missense probably benign
R5523:Kcnd2 UTSW 6 21,723,212 (GRCm38) missense probably benign
R5545:Kcnd2 UTSW 6 21,217,019 (GRCm38) missense probably damaging 1.00
R5926:Kcnd2 UTSW 6 21,217,085 (GRCm38) missense probably damaging 0.99
R6900:Kcnd2 UTSW 6 21,216,588 (GRCm38) missense probably damaging 1.00
R7010:Kcnd2 UTSW 6 21,216,708 (GRCm38) missense probably damaging 1.00
R7028:Kcnd2 UTSW 6 21,216,178 (GRCm38) start gained probably benign
R7183:Kcnd2 UTSW 6 21,216,437 (GRCm38) missense probably damaging 1.00
R7387:Kcnd2 UTSW 6 21,216,778 (GRCm38) missense probably benign 0.28
R7463:Kcnd2 UTSW 6 21,216,498 (GRCm38) missense probably damaging 1.00
R8007:Kcnd2 UTSW 6 21,217,074 (GRCm38) missense probably damaging 0.99
R8305:Kcnd2 UTSW 6 21,726,198 (GRCm38) nonsense probably null
R8465:Kcnd2 UTSW 6 21,216,696 (GRCm38) missense probably damaging 1.00
R9329:Kcnd2 UTSW 6 21,725,982 (GRCm38) missense probably damaging 1.00
R9532:Kcnd2 UTSW 6 21,727,181 (GRCm38) missense probably benign 0.16
R9766:Kcnd2 UTSW 6 21,216,368 (GRCm38) missense probably benign 0.20
X0021:Kcnd2 UTSW 6 21,217,323 (GRCm38) missense probably damaging 0.99
Z1177:Kcnd2 UTSW 6 21,216,416 (GRCm38) missense probably damaging 1.00
Posted On 2016-08-02