Incidental Mutation 'R9329:Kcnd2'
ID 706712
Institutional Source Beutler Lab
Gene Symbol Kcnd2
Ensembl Gene ENSMUSG00000060882
Gene Name potassium voltage-gated channel, Shal-related family, member 2
Synonyms Kv4.2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R9329 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 21215502-21729804 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 21725981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 491 (H491Q)
Ref Sequence ENSEMBL: ENSMUSP00000080257 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081542]
AlphaFold Q9Z0V2
Predicted Effect probably damaging
Transcript: ENSMUST00000081542
AA Change: H491Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080257
Gene: ENSMUSG00000060882
AA Change: H491Q

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (73/74)
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik T G 6: 83,133,556 (GRCm39) M1R probably null Het
Acap2 T C 16: 30,946,238 (GRCm39) D235G probably damaging Het
Adgrv1 C A 13: 81,647,241 (GRCm39) V3100F probably damaging Het
Aff4 A G 11: 53,288,686 (GRCm39) T401A probably damaging Het
Apcs T C 1: 172,722,391 (GRCm39) T22A probably benign Het
Atf7ip2 T C 16: 10,059,738 (GRCm39) V426A possibly damaging Het
Bach2 A G 4: 32,562,175 (GRCm39) D214G possibly damaging Het
Baz2a C T 10: 127,960,925 (GRCm39) A1578V possibly damaging Het
Camk1d T C 2: 5,449,954 (GRCm39) I76V probably benign Het
Ccdc182 A T 11: 88,185,324 (GRCm39) M135L probably benign Het
Cd47 C T 16: 49,716,731 (GRCm39) T201I Het
Chodl T C 16: 78,746,030 (GRCm39) S290P possibly damaging Het
Chst15 A G 7: 131,868,520 (GRCm39) L300P possibly damaging Het
Ciita T C 16: 10,324,571 (GRCm39) S168P probably damaging Het
Cntn2 C T 1: 132,456,678 (GRCm39) V123I probably benign Het
Cyld T A 8: 89,457,348 (GRCm39) L527Q probably benign Het
Dbn1 T A 13: 55,631,241 (GRCm39) Y34F probably damaging Het
Enc1 C A 13: 97,383,018 (GRCm39) Y509* probably null Het
Ermard A T 17: 15,273,643 (GRCm39) E409D probably benign Het
Extl3 T C 14: 65,314,765 (GRCm39) E139G possibly damaging Het
Fa2h A T 8: 112,082,115 (GRCm39) V177E possibly damaging Het
Flot2 T C 11: 77,949,772 (GRCm39) I367T probably damaging Het
Fras1 T C 5: 96,884,813 (GRCm39) Y2564H probably damaging Het
Fxyd3 A G 7: 30,773,018 (GRCm39) V10A probably benign Het
Gfra3 A G 18: 34,837,560 (GRCm39) L146P probably damaging Het
Gm49359 T C 13: 62,602,448 (GRCm39) N251D probably benign Het
Hps6 A G 19: 45,992,542 (GRCm39) S160G probably benign Het
Hsd17b7 C A 1: 169,794,875 (GRCm39) A55S probably damaging Het
Hspa12a T C 19: 58,789,298 (GRCm39) D446G probably benign Het
Htt G A 5: 34,989,957 (GRCm39) R1163Q possibly damaging Het
Ift81 T C 5: 122,697,833 (GRCm39) probably null Het
Ighv5-15 T G 12: 113,790,395 (GRCm39) Y75S probably benign Het
Lamb3 C A 1: 193,014,665 (GRCm39) T608K probably benign Het
Lrtm2 T A 6: 119,297,412 (GRCm39) K210* probably null Het
Med13 G T 11: 86,189,283 (GRCm39) P1209T probably benign Het
Mtus1 G A 8: 41,537,239 (GRCm39) T159I probably damaging Het
Myt1l A G 12: 29,901,659 (GRCm39) M805V unknown Het
Neb G T 2: 52,160,231 (GRCm39) L2261I probably benign Het
Nlrp4c G A 7: 6,068,498 (GRCm39) R133H probably benign Het
Nol11 A T 11: 107,071,765 (GRCm39) L276Q probably damaging Het
Nrap A G 19: 56,350,277 (GRCm39) Y614H probably damaging Het
Or13c9 G A 4: 52,936,211 (GRCm39) T24M probably damaging Het
Or52p1 A G 7: 104,267,705 (GRCm39) H273R probably damaging Het
Pou2f3 A G 9: 43,040,224 (GRCm39) S355P probably damaging Het
Ppm1l C A 3: 69,460,453 (GRCm39) N343K probably damaging Het
Prh1 A T 6: 132,548,573 (GRCm39) I27F unknown Het
Prkrip1 A T 5: 136,223,203 (GRCm39) L85Q probably damaging Het
Pycr3 C T 15: 75,790,563 (GRCm39) V99I probably benign Het
R3hdm4 T A 10: 79,749,393 (GRCm39) N72I probably damaging Het
Rab11fip3 G T 17: 26,231,032 (GRCm39) H738N probably benign Het
Rtl1 G A 12: 109,556,673 (GRCm39) A1722V possibly damaging Het
Sell A G 1: 163,893,122 (GRCm39) N113D probably damaging Het
Smarcal1 T C 1: 72,665,697 (GRCm39) S732P probably damaging Het
Smurf2 A T 11: 106,743,424 (GRCm39) D207E probably benign Het
Spata31h1 G A 10: 82,121,439 (GRCm39) S3857L probably benign Het
Tat C T 8: 110,723,510 (GRCm39) R333C probably benign Het
Tmem121b A T 6: 120,469,234 (GRCm39) F494L probably damaging Het
Tmem198 C A 1: 75,456,522 (GRCm39) P89Q probably damaging Het
Tnks2 T G 19: 36,835,284 (GRCm39) C2G probably damaging Het
Trappc9 T C 15: 72,673,202 (GRCm39) E869G unknown Het
Trim42 T A 9: 97,251,584 (GRCm39) K105M probably benign Het
Ttll3 T C 6: 113,369,635 (GRCm39) S60P probably benign Het
Ttll4 T A 1: 74,725,121 (GRCm39) I625N possibly damaging Het
Tubgcp5 T A 7: 55,479,181 (GRCm39) probably null Het
Txlnb A T 10: 17,682,594 (GRCm39) Y172F probably damaging Het
Ube2e3 A T 2: 78,744,035 (GRCm39) D88V possibly damaging Het
Vmn1r189 T A 13: 22,286,430 (GRCm39) I136L probably benign Het
Vmn2r71 A G 7: 85,267,950 (GRCm39) I135V probably benign Het
Vmn2r73 T A 7: 85,519,073 (GRCm39) R516S probably benign Het
Wrn C T 8: 33,731,006 (GRCm39) E1352K probably benign Het
Zfp318 T C 17: 46,722,139 (GRCm39) S1381P probably damaging Het
Zfp747 A T 7: 126,973,655 (GRCm39) Y172N 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
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
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
Predicted Primers PCR Primer
(F):5'- AGATCTAGATAGGAAGACCCTTTTC -3'
(R):5'- CTTGCACACTGCCTCTATGG -3'

Sequencing Primer
(F):5'- GACCTGTTGGATCAAGTC -3'
(R):5'- ATGGCTTCCCGACACATTGG -3'
Posted On 2022-04-18