Incidental Mutation 'IGL01317:Kcnd2'
ID 73896
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 # IGL01317
Quality Score
Chromosome 6
Chromosomal Location 21215503-21729805 bp(+) (GRCm38)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 21727340 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Stop codon to Glutamine at position 631 (*631Q)
Ref Sequence ENSEMBL: ENSMUSP00000080257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081542]
AlphaFold Q9Z0V2
Predicted Effect probably null
Transcript: ENSMUST00000081542
AA Change: *631Q
SMART Domains Protein: ENSMUSP00000080257
Gene: ENSMUSG00000060882
AA Change: *631Q

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,872,581 (GRCm38) D609E probably damaging Het
Aldh3b1 T C 19: 3,918,104 (GRCm38) I352V probably benign Het
Apeh A T 9: 108,086,207 (GRCm38) S605R probably benign Het
Arhgap32 A G 9: 32,256,964 (GRCm38) K748E probably benign Het
Avpr1a T C 10: 122,449,567 (GRCm38) S255P probably benign Het
Cadps2 T A 6: 23,314,173 (GRCm38) D1124V possibly damaging Het
Cask C T X: 13,522,260 (GRCm38) E83K probably damaging Het
Ccdc129 G T 6: 55,967,805 (GRCm38) A504S possibly damaging Het
Cep170b A G 12: 112,737,644 (GRCm38) Y670C probably damaging Het
Chd3 A G 11: 69,353,211 (GRCm38) Y1343H probably damaging Het
Cit T A 5: 115,908,716 (GRCm38) V396D probably benign Het
Cldn18 T C 9: 99,696,082 (GRCm38) T203A probably benign Het
Dido1 A C 2: 180,671,757 (GRCm38) N907K probably benign Het
Dmbt1 T A 7: 131,041,191 (GRCm38) D246E probably damaging Het
Dph1 T C 11: 75,180,660 (GRCm38) H303R probably benign Het
Dspp T A 5: 104,174,048 (GRCm38) Y8N probably damaging Het
Efhc2 C T X: 17,204,959 (GRCm38) probably benign Het
Fam160a1 T C 3: 85,672,846 (GRCm38) D684G probably benign Het
Fam171a1 T A 2: 3,202,626 (GRCm38) V215E probably damaging Het
Foxm1 T A 6: 128,367,353 (GRCm38) M22K probably damaging Het
Gdpd4 A C 7: 97,998,258 (GRCm38) M371L possibly damaging Het
Hdac9 T C 12: 34,429,489 (GRCm38) probably benign Het
Heatr1 T A 13: 12,399,027 (GRCm38) W162R probably damaging Het
Hydin A T 8: 110,326,446 (GRCm38) D250V probably damaging Het
Itga4 T A 2: 79,322,661 (GRCm38) C897* probably null Het
Kcnn2 A G 18: 45,560,627 (GRCm38) probably null Het
Lama1 A T 17: 67,818,701 (GRCm38) E2951V probably damaging Het
Lyst A G 13: 13,670,870 (GRCm38) Q1944R probably benign Het
Mmp14 A G 14: 54,435,790 (GRCm38) T52A possibly damaging Het
Mrgpra1 A T 7: 47,335,624 (GRCm38) N102K probably benign Het
Mrpl28 G A 17: 26,125,515 (GRCm38) G205D probably damaging Het
Mtmr4 T C 11: 87,602,404 (GRCm38) probably benign Het
Olfr1308 T A 2: 111,960,275 (GRCm38) H266L possibly damaging Het
Oog2 A G 4: 144,195,267 (GRCm38) N249S probably benign Het
Ppp6r2 T A 15: 89,285,928 (GRCm38) V882E possibly damaging Het
Qser1 A C 2: 104,786,979 (GRCm38) Y1073D probably damaging Het
Rbl2 C A 8: 91,100,057 (GRCm38) D480E probably damaging Het
Rfx7 G A 9: 72,618,536 (GRCm38) G1003S probably damaging Het
Rrh A C 3: 129,822,425 (GRCm38) F20V possibly damaging Het
Rwdd3 A G 3: 121,171,633 (GRCm38) I15T possibly damaging Het
Sestd1 A T 2: 77,192,545 (GRCm38) M493K possibly damaging Het
Slc17a8 T A 10: 89,620,804 (GRCm38) L32F probably benign Het
Slc29a4 A G 5: 142,705,530 (GRCm38) D55G probably benign Het
Tbc1d10a A T 11: 4,212,826 (GRCm38) Y223F probably benign Het
Tbx20 A G 9: 24,769,755 (GRCm38) V147A probably damaging Het
Tmem63c A T 12: 87,071,996 (GRCm38) probably benign Het
Tmtc2 C A 10: 105,413,785 (GRCm38) R29L probably damaging Het
Ttc21b T A 2: 66,188,356 (GRCm38) M1236L probably benign Het
Unc119 T A 11: 78,347,226 (GRCm38) C12S probably damaging Het
Vcan A G 13: 89,691,668 (GRCm38) M1919T probably benign Het
Zmat4 C A 8: 23,902,169 (GRCm38) T47K 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
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
IGL03119:Kcnd2 APN 6 21,216,509 (GRCm38) nonsense probably null
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 2013-10-07