Incidental Mutation 'IGL01124:Kcnd2'
ID 51353
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: 0.130) question?
Stock # IGL01124
Quality Score
Status
Chromosome 6
Chromosomal Location 21215502-21729804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 21217216 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 307 (S307P)
Ref Sequence ENSEMBL: ENSMUSP00000080257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081542]
AlphaFold Q9Z0V2
Predicted Effect probably damaging
Transcript: ENSMUST00000081542
AA Change: S307P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080257
Gene: ENSMUSG00000060882
AA Change: S307P

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 T C 10: 50,608,569 (GRCm39) I1477T probably damaging Het
Baat A G 4: 49,490,391 (GRCm39) I231T possibly damaging Het
Cactin T C 10: 81,160,184 (GRCm39) S426P possibly damaging Het
Cfh A T 1: 140,110,999 (GRCm39) F6I probably benign Het
Clec4a2 C T 6: 123,116,037 (GRCm39) probably benign Het
Col12a1 A G 9: 79,611,129 (GRCm39) S148P probably damaging Het
Cubn G T 2: 13,482,904 (GRCm39) Q281K possibly damaging Het
Cyp2c65 T A 19: 39,081,954 (GRCm39) probably benign Het
Dennd4b A T 3: 90,176,381 (GRCm39) T243S possibly damaging Het
Epha8 C T 4: 136,663,394 (GRCm39) G518D probably damaging Het
Fmo3 G A 1: 162,785,830 (GRCm39) R387C probably damaging Het
Foxo6 T C 4: 120,126,349 (GRCm39) T149A probably benign Het
Fthl17d T C X: 8,852,827 (GRCm39) E3G probably benign Het
Gm10521 A G 1: 171,724,010 (GRCm39) Y107C unknown Het
Ipo8 T A 6: 148,678,874 (GRCm39) E908V probably benign Het
Klf3 A G 5: 64,974,123 (GRCm39) M3V possibly damaging Het
Ldb3 T A 14: 34,266,157 (GRCm39) E417D probably damaging Het
Lrch1 A T 14: 74,994,503 (GRCm39) D673E probably benign Het
Map3k4 T C 17: 12,474,087 (GRCm39) K865E probably benign Het
Muc4 G A 16: 32,589,104 (GRCm39) V754I possibly damaging Het
Nek4 A G 14: 30,692,219 (GRCm39) N223D probably benign Het
Nell2 G A 15: 95,194,060 (GRCm39) T551M probably damaging Het
Nup155 T A 15: 8,183,163 (GRCm39) M1241K probably damaging Het
Or2t49 A T 11: 58,393,020 (GRCm39) S121T possibly damaging Het
Or5i1 T C 2: 87,613,720 (GRCm39) F279L probably benign Het
Orc1 T C 4: 108,445,984 (GRCm39) probably benign Het
Pclo T C 5: 14,764,343 (GRCm39) I4272T unknown Het
Ppp1r12c A G 7: 4,500,344 (GRCm39) probably benign Het
Prcp A G 7: 92,559,416 (GRCm39) E160G probably benign Het
Prl3d3 G A 13: 27,343,090 (GRCm39) R92Q possibly damaging Het
Prl6a1 T A 13: 27,500,347 (GRCm39) M106K possibly damaging Het
Slc22a1 T A 17: 12,869,749 (GRCm39) probably benign Het
Slco3a1 A G 7: 73,934,295 (GRCm39) Y626H probably damaging Het
Smtn A G 11: 3,476,326 (GRCm39) probably null Het
Snx30 T C 4: 59,886,404 (GRCm39) probably benign Het
Spock2 A G 10: 59,967,209 (GRCm39) D393G unknown Het
Trem3 T G 17: 48,556,829 (GRCm39) L100R probably damaging Het
Trpm2 A T 10: 77,781,659 (GRCm39) probably benign Het
Ubr1 T C 2: 120,745,386 (GRCm39) M901V probably benign Het
Usp28 T A 9: 48,948,513 (GRCm39) S873T probably damaging Het
Vmn1r86 T C 7: 12,836,856 (GRCm39) I7V probably benign Het
Xirp2 T C 2: 67,338,959 (GRCm39) L400P probably damaging Het
Other mutations in Kcnd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00983:Kcnd2 APN 6 21,714,153 (GRCm39) missense possibly damaging 0.90
IGL01317:Kcnd2 APN 6 21,727,339 (GRCm39) makesense probably null
IGL01534:Kcnd2 APN 6 21,726,144 (GRCm39) missense probably benign
IGL02623:Kcnd2 APN 6 21,726,194 (GRCm39) missense probably benign 0.05
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 2013-06-21