Incidental Mutation 'IGL02253:Kcna3'
ID286482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcna3
Ensembl Gene ENSMUSG00000047959
Gene Namepotassium voltage-gated channel, shaker-related subfamily, member 3
SynonymsKv1.3, Mk-3, Kca1-3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.391) question?
Stock #IGL02253
Quality Score
Status
Chromosome3
Chromosomal Location107036169-107038070 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 107037411 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 330 (L330P)
Ref Sequence ENSEMBL: ENSMUSP00000050680 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000052718]
Predicted Effect probably damaging
Transcript: ENSMUST00000052718
AA Change: L330P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050680
Gene: ENSMUSG00000047959
AA Change: L330P

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
low complexity region 41 49 N/A INTRINSIC
BTB 57 157 6.9e-10 SMART
Pfam:Ion_trans 186 444 4.2e-54 PFAM
Pfam:Ion_trans_2 352 437 2.3e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000070085
SMART Domains Protein: ENSMUSP00000066165
Gene: ENSMUSG00000056145

DomainStartEndE-ValueType
low complexity region 79 99 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000182414
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Potassium 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, shaker-related subfamily. This member contains six membrane-spanning domains with a shaker-type repeat in the fourth segment. It belongs to the delayed rectifier class, members of which allow nerve cells to efficiently repolarize following an action potential. It plays an essential role in T-cell proliferation and activation. This gene appears to be intronless and it is clustered together with KCNA2 and KCNA10 genes on chromosome 1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display no apparent immune system defects. Mice homozygous for a different knock-out allele show reduced body weight, increased basal metabolic rate, resistance to diet-induced obesity, increased insulin sensitivity, and altered peripheral glucose metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,207,959 E76G probably benign Het
Adamtsl2 A T 2: 27,098,697 T587S possibly damaging Het
Adgre4 T A 17: 55,760,573 M9K probably benign Het
Aff2 T A X: 69,830,791 V447E probably benign Het
Arhgef10l G T 4: 140,544,284 S425* probably null Het
Cabcoco1 T C 10: 68,436,277 probably null Het
Calcr T A 6: 3,707,523 H259L probably benign Het
Cdc42bpa T A 1: 180,031,596 probably benign Het
Cntnap5b C T 1: 100,164,211 H540Y possibly damaging Het
Cyp2a22 A T 7: 26,938,237 probably benign Het
Ddx3x T C X: 13,284,968 probably benign Het
Dnajc11 T A 4: 151,950,519 Y28* probably null Het
Dock11 T C X: 36,041,128 F1472S probably damaging Het
Dusp18 T C 11: 3,897,576 *189Q probably null Het
Dzip3 A T 16: 48,944,924 Y476N probably benign Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Evc2 T A 5: 37,378,427 probably benign Het
Fam151b A T 13: 92,477,927 Y18N probably damaging Het
Gk5 T C 9: 96,137,771 F120S probably damaging Het
Gm17359 C A 3: 79,449,434 probably benign Het
Gm17359 C A 3: 79,449,435 probably benign Het
Kctd20 A G 17: 28,961,486 N7S probably benign Het
Kmt2b G T 7: 30,581,727 R1276S probably damaging Het
Kmt2d C T 15: 98,858,175 probably benign Het
L2hgdh G A 12: 69,705,760 probably benign Het
Lifr T G 15: 7,190,604 V905G probably damaging Het
Mcm3ap T A 10: 76,470,065 V4E probably benign Het
Nrip3 A C 7: 109,761,744 probably null Het
Nsun2 T G 13: 69,619,539 V204G possibly damaging Het
Nup54 A G 5: 92,417,451 probably null Het
Olfr494 T A 7: 108,368,054 V188E possibly damaging Het
Olfr894 T A 9: 38,219,735 M304K probably benign Het
Pdcl3 A G 1: 38,994,930 D51G probably benign Het
Pdlim1 T C 19: 40,230,530 E219G probably damaging Het
Pld4 A C 12: 112,766,707 K239T probably damaging Het
Rgsl1 T C 1: 153,793,767 Y291C probably damaging Het
Rnf213 C A 11: 119,440,650 H2228Q probably benign Het
Rnf222 T A 11: 68,893,036 I143N probably damaging Het
Sirt7 A G 11: 120,620,867 I13T probably benign Het
Slfn10-ps A G 11: 83,029,064 noncoding transcript Het
Slx4ip T C 2: 137,000,275 probably null Het
Spata18 G T 5: 73,668,596 S164I possibly damaging Het
Ssfa2 A G 2: 79,660,444 T969A probably damaging Het
Stk26 T C X: 50,886,688 L212P probably damaging Het
Tmsb15a T C X: 135,719,702 I56V probably benign Het
Tnrc6b T A 15: 80,876,541 S150T probably damaging Het
Tubb3 T C 8: 123,420,820 M164T probably benign Het
Zfp516 A G 18: 82,994,497 D1125G probably benign Het
Zyg11a A C 4: 108,183,695 V685G probably null Het
Other mutations in Kcna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00489:Kcna3 APN 3 107037156 missense probably benign 0.33
IGL00562:Kcna3 APN 3 107036730 missense probably damaging 1.00
IGL01106:Kcna3 APN 3 107037864 missense possibly damaging 0.89
IGL01318:Kcna3 APN 3 107037978 missense probably benign 0.03
IGL03379:Kcna3 APN 3 107037205 missense probably benign 0.05
IGL02802:Kcna3 UTSW 3 107037053 missense probably damaging 0.99
IGL03014:Kcna3 UTSW 3 107037890 missense probably benign 0.00
R0393:Kcna3 UTSW 3 107036999 missense probably damaging 1.00
R1591:Kcna3 UTSW 3 107037029 missense probably damaging 1.00
R1922:Kcna3 UTSW 3 107037935 missense possibly damaging 0.47
R1950:Kcna3 UTSW 3 107037672 missense probably damaging 1.00
R3847:Kcna3 UTSW 3 107036696 missense possibly damaging 0.57
R4912:Kcna3 UTSW 3 107037891 missense probably benign
R6261:Kcna3 UTSW 3 107037950 missense possibly damaging 0.53
R6271:Kcna3 UTSW 3 107037606 missense probably damaging 1.00
R6334:Kcna3 UTSW 3 107036424 start codon destroyed probably null
R6423:Kcna3 UTSW 3 107036842 nonsense probably null
R6850:Kcna3 UTSW 3 107037159 missense probably damaging 1.00
R6901:Kcna3 UTSW 3 107036568 missense probably benign 0.00
R7193:Kcna3 UTSW 3 107036537 missense probably benign 0.02
R7524:Kcna3 UTSW 3 107037207 missense probably damaging 1.00
Z1088:Kcna3 UTSW 3 107036953 missense probably damaging 1.00
Z1176:Kcna3 UTSW 3 107037266 missense probably damaging 1.00
Posted On2015-04-16