Incidental Mutation 'R6012:Kcnc3'
ID 479814
Institutional Source Beutler Lab
Gene Symbol Kcnc3
Ensembl Gene ENSMUSG00000062785
Gene Name potassium voltage gated channel, Shaw-related subfamily, member 3
Synonyms KShIIID, Kv3.3, Kcr2-3
MMRRC Submission 044188-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6012 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 44240088-44254178 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44248296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 757 (D757G)
Ref Sequence ENSEMBL: ENSMUSP00000146535 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000107906] [ENSMUST00000107907] [ENSMUST00000207493] [ENSMUST00000208651] [ENSMUST00000209177]
AlphaFold Q63959
Predicted Effect probably benign
Transcript: ENSMUST00000107906
SMART Domains Protein: ENSMUSP00000103539
Gene: ENSMUSG00000062785

DomainStartEndE-ValueType
Pfam:Potassium_chann 1 21 8e-9 PFAM
BTB 90 194 4.38e-12 SMART
low complexity region 211 243 N/A INTRINSIC
low complexity region 251 267 N/A INTRINSIC
Pfam:Ion_trans 290 551 4.1e-45 PFAM
Pfam:Ion_trans_2 451 544 8.2e-12 PFAM
low complexity region 578 605 N/A INTRINSIC
low complexity region 622 650 N/A INTRINSIC
low complexity region 730 746 N/A INTRINSIC
low complexity region 750 767 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107907
SMART Domains Protein: ENSMUSP00000103540
Gene: ENSMUSG00000062785

DomainStartEndE-ValueType
low complexity region 19 48 N/A INTRINSIC
BTB 90 194 4.38e-12 SMART
low complexity region 211 243 N/A INTRINSIC
low complexity region 251 267 N/A INTRINSIC
Pfam:Ion_trans 351 539 1.5e-31 PFAM
Pfam:Ion_trans_2 450 544 2.4e-11 PFAM
low complexity region 578 605 N/A INTRINSIC
low complexity region 622 650 N/A INTRINSIC
low complexity region 729 745 N/A INTRINSIC
low complexity region 749 766 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207493
Predicted Effect unknown
Transcript: ENSMUST00000207497
AA Change: D145G
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208412
Predicted Effect probably benign
Transcript: ENSMUST00000208651
Predicted Effect probably benign
Transcript: ENSMUST00000209177
AA Change: D757G

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208849
Meta Mutation Damage Score 0.0800 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 92.4%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Shaker gene family of Drosophila encodes components of voltage-gated potassium channels and is comprised of four subfamilies. Based on sequence similarity, this gene is similar to one of these subfamilies, namely the Shaw subfamily. The protein encoded by this gene belongs to the delayed rectifier class of channel proteins and is an integral membrane protein that mediates the voltage-dependent potassium ion permeability of excitable membranes. Alternate splicing results in several transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozgous null mice show no overt phenotype, though mutation of this locus in conjunction with mutations in another potassium channel results in alcohol hypersensitivty, increased locomotion, and spontaneous myoclonus. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat T A 16: 8,400,691 (GRCm39) Y97N probably damaging Het
Adrm1b C A 3: 92,336,791 (GRCm39) probably null Het
Akr1b10 A T 6: 34,364,715 (GRCm39) I59F probably damaging Het
Als2 A T 1: 59,224,374 (GRCm39) D1076E probably damaging Het
Bank1 T C 3: 135,919,598 (GRCm39) D266G probably benign Het
Bmp2k T A 5: 97,211,467 (GRCm39) probably null Het
Cdc42bpa A G 1: 179,892,655 (GRCm39) Y273C probably damaging Het
Chfr G T 5: 110,292,517 (GRCm39) probably null Het
Dapk1 A T 13: 60,909,476 (GRCm39) Q1363L probably benign Het
Ddx23 A T 15: 98,548,651 (GRCm39) D352E possibly damaging Het
Ect2 T C 3: 27,152,474 (GRCm39) probably benign Het
Efcab10 A C 12: 33,448,592 (GRCm39) D107A probably damaging Het
Fcgr4 G A 1: 170,853,233 (GRCm39) G146D possibly damaging Het
Fgd5 A G 6: 91,966,322 (GRCm39) T694A possibly damaging Het
Ghr T C 15: 3,370,409 (GRCm39) D152G probably damaging Het
Gli2 A C 1: 118,765,445 (GRCm39) L902R probably damaging Het
Glis2 G A 16: 4,429,172 (GRCm39) G125D possibly damaging Het
Gmcl1 A G 6: 86,698,394 (GRCm39) Y168H probably damaging Het
Golga4 A G 9: 118,388,764 (GRCm39) K1962R possibly damaging Het
Hebp1 T A 6: 135,145,055 (GRCm39) E14V probably damaging Het
Hhla1 A C 15: 65,820,339 (GRCm39) I137S probably damaging Het
Hivep1 A G 13: 42,337,934 (GRCm39) H2671R possibly damaging Het
Hltf A G 3: 20,113,098 (GRCm39) Y19C probably damaging Het
Hsd3b2 A T 3: 98,619,333 (GRCm39) M204K probably benign Het
Hspa4l A T 3: 40,736,031 (GRCm39) I551F probably benign Het
Itpkc A T 7: 26,927,490 (GRCm39) D141E probably damaging Het
Mettl16 A T 11: 74,678,474 (GRCm39) Y141F probably damaging Het
Mfng G A 15: 78,640,840 (GRCm39) R302C probably damaging Het
Mogs T A 6: 83,094,363 (GRCm39) S393R probably damaging Het
Mrps28 A G 3: 8,965,044 (GRCm39) probably null Het
Nfat5 T C 8: 108,093,765 (GRCm39) S150P probably benign Het
Or2w1 T C 13: 21,316,978 (GRCm39) V11A probably benign Het
Or7d10 A T 9: 19,832,237 (GRCm39) H244L probably damaging Het
Pcdh12 A G 18: 38,416,805 (GRCm39) S107P probably damaging Het
Phf21a G A 2: 92,182,120 (GRCm39) D463N probably damaging Het
Picalm A C 7: 89,844,908 (GRCm39) I567L probably benign Het
Pla2g4a T A 1: 149,808,428 (GRCm39) D5V possibly damaging Het
Sspo C T 6: 48,428,305 (GRCm39) T222M probably benign Het
Stard9 T C 2: 120,535,067 (GRCm39) S3775P probably damaging Het
Stk31 A T 6: 49,446,243 (GRCm39) D982V probably damaging Het
Tas2r113 C T 6: 132,870,644 (GRCm39) T224I probably damaging Het
Tbc1d15 T C 10: 115,055,112 (GRCm39) D310G probably damaging Het
Tcf12 G T 9: 71,766,229 (GRCm39) T468K possibly damaging Het
Tenm4 A G 7: 96,171,640 (GRCm39) probably benign Het
Tet2 A G 3: 133,172,542 (GRCm39) Y1907H possibly damaging Het
Thsd7a T C 6: 12,379,388 (GRCm39) probably null Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Trp53bp1 T C 2: 121,087,083 (GRCm39) Y191C probably benign Het
Ugcg T A 4: 59,220,272 (GRCm39) I355N probably damaging Het
Vmn1r21 A T 6: 57,820,891 (GRCm39) D184E probably damaging Het
Vsig10l T A 7: 43,117,439 (GRCm39) D575E probably damaging Het
Zan G A 5: 137,462,791 (GRCm39) T796I unknown Het
Zfp639 A G 3: 32,573,271 (GRCm39) D61G probably damaging Het
Other mutations in Kcnc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01016:Kcnc3 APN 7 44,244,810 (GRCm39) missense probably damaging 1.00
IGL01607:Kcnc3 APN 7 44,240,728 (GRCm39) missense probably damaging 1.00
IGL02397:Kcnc3 APN 7 44,245,218 (GRCm39) missense probably damaging 1.00
IGL02807:Kcnc3 APN 7 44,245,381 (GRCm39) missense probably damaging 1.00
IGL02961:Kcnc3 APN 7 44,240,916 (GRCm39) missense probably damaging 0.99
elfen UTSW 7 44,240,720 (GRCm39) frame shift probably null
Le_fitness UTSW 7 44,244,606 (GRCm39) missense possibly damaging 0.92
Svelte UTSW 7 44,245,240 (GRCm39) missense probably damaging 1.00
Trim UTSW 7 44,245,027 (GRCm39) missense probably damaging 1.00
R0514:Kcnc3 UTSW 7 44,245,352 (GRCm39) nonsense probably null
R0827:Kcnc3 UTSW 7 44,244,630 (GRCm39) missense probably damaging 0.99
R1514:Kcnc3 UTSW 7 44,245,027 (GRCm39) missense probably damaging 1.00
R2875:Kcnc3 UTSW 7 44,240,961 (GRCm39) nonsense probably null
R4597:Kcnc3 UTSW 7 44,245,240 (GRCm39) missense probably damaging 1.00
R4954:Kcnc3 UTSW 7 44,240,720 (GRCm39) frame shift probably null
R4955:Kcnc3 UTSW 7 44,240,720 (GRCm39) frame shift probably null
R6093:Kcnc3 UTSW 7 44,240,932 (GRCm39) missense probably benign 0.44
R6488:Kcnc3 UTSW 7 44,244,606 (GRCm39) missense possibly damaging 0.92
R7542:Kcnc3 UTSW 7 44,245,138 (GRCm39) missense possibly damaging 0.84
R7595:Kcnc3 UTSW 7 44,240,893 (GRCm39) missense probably damaging 1.00
R7909:Kcnc3 UTSW 7 44,245,111 (GRCm39) missense probably damaging 1.00
R7946:Kcnc3 UTSW 7 44,245,569 (GRCm39) missense probably benign 0.13
R8676:Kcnc3 UTSW 7 44,241,020 (GRCm39) missense probably benign 0.06
R9156:Kcnc3 UTSW 7 44,240,592 (GRCm39) missense probably damaging 0.99
R9396:Kcnc3 UTSW 7 44,240,937 (GRCm39) missense possibly damaging 0.57
R9545:Kcnc3 UTSW 7 44,245,357 (GRCm39) missense probably damaging 1.00
Z1177:Kcnc3 UTSW 7 44,245,530 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCGAAAAGGTGAGGTGCC -3'
(R):5'- GTACAGCTGTTCACCATGGG -3'

Sequencing Primer
(F):5'- GCTCCCCAGAGACCCTTC -3'
(R):5'- ACCATGGGTGAGGGTCTTG -3'
Posted On 2017-06-26