Incidental Mutation 'IGL02623:Kcnd2'
ID 300957
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: 0.101) question?
Stock # IGL02623
Quality Score
Chromosome 6
Chromosomal Location 21215502-21729804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 21726194 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 562 (R562S)
Ref Sequence ENSEMBL: ENSMUSP00000080257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081542]
AlphaFold Q9Z0V2
Predicted Effect probably benign
Transcript: ENSMUST00000081542
AA Change: R562S

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000080257
Gene: ENSMUSG00000060882
AA Change: R562S

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik T A 16: 90,853,032 (GRCm39) I35F probably benign Het
Acad10 A G 5: 121,767,993 (GRCm39) V819A possibly damaging Het
Adgrd1 A T 5: 129,209,809 (GRCm39) N279Y probably damaging Het
Aplp2 C A 9: 31,089,379 (GRCm39) probably benign Het
Armc8 T C 9: 99,409,122 (GRCm39) probably benign Het
B3gnt5 A G 16: 19,588,360 (GRCm39) D193G probably damaging Het
Cacng1 A G 11: 107,595,145 (GRCm39) F144S probably damaging Het
Cfap91 T A 16: 38,154,140 (GRCm39) D135V possibly damaging Het
Dnm3 T A 1: 162,183,001 (GRCm39) T105S probably damaging Het
Efcab6 T A 15: 83,763,649 (GRCm39) I1228F probably damaging Het
Erc2 A G 14: 27,498,937 (GRCm39) D271G probably damaging Het
Fat3 T C 9: 15,908,433 (GRCm39) Y2523C probably damaging Het
Fhl4 A G 10: 84,934,035 (GRCm39) F249L probably damaging Het
Gm17782 T C 17: 36,472,958 (GRCm39) probably benign Het
Gm4787 A G 12: 81,425,502 (GRCm39) Y219H probably damaging Het
Hk1 A G 10: 62,128,138 (GRCm39) L328P probably benign Het
Hspa12a T A 19: 58,797,983 (GRCm39) Y245F probably benign Het
Kbtbd12 T C 6: 88,595,371 (GRCm39) Y153C probably damaging Het
Lct T C 1: 128,235,988 (GRCm39) S340G probably benign Het
Mettl25 C A 10: 105,662,185 (GRCm39) G262W probably damaging Het
Mindy3 G A 2: 12,369,294 (GRCm39) Q142* probably null Het
Optn T C 2: 5,039,833 (GRCm39) E318G probably damaging Het
Or8j3 A T 2: 86,028,363 (GRCm39) H244Q probably damaging Het
Pan2 T C 10: 128,148,768 (GRCm39) S443P probably benign Het
Parva A G 7: 112,175,646 (GRCm39) D259G probably damaging Het
Pkhd1l1 T A 15: 44,448,269 (GRCm39) L3816Q probably damaging Het
Polq T C 16: 36,880,737 (GRCm39) F967S probably benign Het
Prdm16 T C 4: 154,425,334 (GRCm39) N817S probably damaging Het
Ptprt C A 2: 161,449,372 (GRCm39) probably benign Het
Rbbp8nl T A 2: 179,923,236 (GRCm39) S154C probably damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Slit1 T C 19: 41,640,122 (GRCm39) I169V probably damaging Het
Smyd4 G T 11: 75,280,890 (GRCm39) probably benign Het
Tial1 A G 7: 128,045,607 (GRCm39) Y326H probably benign Het
Tmem198b A G 10: 128,638,320 (GRCm39) L81P probably damaging Het
Tmem94 T A 11: 115,687,227 (GRCm39) C1115* probably null Het
Tns3 A G 11: 8,387,141 (GRCm39) S1349P probably damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zfp106 A T 2: 120,376,395 (GRCm39) probably null Het
Zfp119b T C 17: 56,246,793 (GRCm39) E99G probably damaging Het
Zfp462 T A 4: 55,012,986 (GRCm39) C503S probably damaging Het
Zfyve19 G A 2: 119,042,496 (GRCm39) probably null Het
Zxdc G T 6: 90,359,352 (GRCm39) K661N probably damaging Het
Other mutations in Kcnd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Kcnd2 APN 6 21,714,153 (GRCm39) missense possibly damaging 0.90
IGL01124:Kcnd2 APN 6 21,217,216 (GRCm39) missense probably damaging 1.00
IGL01317:Kcnd2 APN 6 21,727,339 (GRCm39) makesense probably null
IGL01534:Kcnd2 APN 6 21,726,144 (GRCm39) missense probably benign
IGL02682:Kcnd2 APN 6 21,216,924 (GRCm39) nonsense probably null
IGL02874:Kcnd2 APN 6 21,216,922 (GRCm39) missense probably damaging 1.00
IGL02982:Kcnd2 APN 6 21,217,148 (GRCm39) missense probably damaging 1.00
IGL02983:Kcnd2 APN 6 21,216,554 (GRCm39) missense probably damaging 1.00
IGL03119:Kcnd2 APN 6 21,216,508 (GRCm39) nonsense probably null
IGL03154:Kcnd2 APN 6 21,216,707 (GRCm39) missense probably damaging 1.00
IGL03174:Kcnd2 APN 6 21,216,515 (GRCm39) missense possibly damaging 0.93
IGL03296:Kcnd2 APN 6 21,714,208 (GRCm39) missense probably damaging 1.00
R0062:Kcnd2 UTSW 6 21,727,225 (GRCm39) missense possibly damaging 0.80
R0062:Kcnd2 UTSW 6 21,727,225 (GRCm39) missense possibly damaging 0.80
R0325:Kcnd2 UTSW 6 21,216,682 (GRCm39) missense probably damaging 0.99
R0771:Kcnd2 UTSW 6 21,216,441 (GRCm39) missense probably damaging 1.00
R0836:Kcnd2 UTSW 6 21,727,328 (GRCm39) missense probably damaging 1.00
R0836:Kcnd2 UTSW 6 21,726,238 (GRCm39) splice site probably benign
R0884:Kcnd2 UTSW 6 21,216,540 (GRCm39) missense probably benign
R1434:Kcnd2 UTSW 6 21,216,356 (GRCm39) missense probably damaging 1.00
R2116:Kcnd2 UTSW 6 21,216,431 (GRCm39) missense probably damaging 1.00
R3863:Kcnd2 UTSW 6 21,217,262 (GRCm39) nonsense probably null
R3939:Kcnd2 UTSW 6 21,217,095 (GRCm39) missense probably damaging 1.00
R4427:Kcnd2 UTSW 6 21,216,896 (GRCm39) missense probably damaging 0.99
R4561:Kcnd2 UTSW 6 21,216,395 (GRCm39) missense probably benign
R4707:Kcnd2 UTSW 6 21,723,211 (GRCm39) missense probably benign
R5523:Kcnd2 UTSW 6 21,723,211 (GRCm39) missense probably benign
R5545:Kcnd2 UTSW 6 21,217,018 (GRCm39) missense probably damaging 1.00
R5926:Kcnd2 UTSW 6 21,217,084 (GRCm39) missense probably damaging 0.99
R6900:Kcnd2 UTSW 6 21,216,587 (GRCm39) missense probably damaging 1.00
R7010:Kcnd2 UTSW 6 21,216,707 (GRCm39) missense probably damaging 1.00
R7028:Kcnd2 UTSW 6 21,216,177 (GRCm39) start gained probably benign
R7183:Kcnd2 UTSW 6 21,216,436 (GRCm39) missense probably damaging 1.00
R7387:Kcnd2 UTSW 6 21,216,777 (GRCm39) missense probably benign 0.28
R7463:Kcnd2 UTSW 6 21,216,497 (GRCm39) missense probably damaging 1.00
R8007:Kcnd2 UTSW 6 21,217,073 (GRCm39) missense probably damaging 0.99
R8305:Kcnd2 UTSW 6 21,726,197 (GRCm39) nonsense probably null
R8465:Kcnd2 UTSW 6 21,216,695 (GRCm39) missense probably damaging 1.00
R9329:Kcnd2 UTSW 6 21,725,981 (GRCm39) missense probably damaging 1.00
R9532:Kcnd2 UTSW 6 21,727,180 (GRCm39) missense probably benign 0.16
R9766:Kcnd2 UTSW 6 21,216,367 (GRCm39) missense probably benign 0.20
X0021:Kcnd2 UTSW 6 21,217,322 (GRCm39) missense probably damaging 0.99
Z1177:Kcnd2 UTSW 6 21,216,415 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16