Incidental Mutation 'IGL02120:Kcnb2'
ID280571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnb2
Ensembl Gene ENSMUSG00000092083
Gene Namepotassium voltage gated channel, Shab-related subfamily, member 2
Synonyms9630047L19Rik, Kv2.2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02120
Quality Score
Status
Chromosome1
Chromosomal Location15287254-15723750 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 15709861 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Methionine at position 319 (T319M)
Ref Sequence ENSEMBL: ENSMUSP00000135382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170146] [ENSMUST00000175681]
Predicted Effect probably damaging
Transcript: ENSMUST00000170146
AA Change: T319M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000175681
AA Change: T319M

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: T319M

DomainStartEndE-ValueType
BTB 35 144 2.59e-14 SMART
low complexity region 150 166 N/A INTRINSIC
Pfam:Ion_trans 192 428 1.7e-51 PFAM
Pfam:Ion_trans_2 336 422 2.5e-13 PFAM
Pfam:Kv2channel 471 755 7.7e-149 PFAM
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, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit neurological abnormalities when compared with controls, including an abnormal sleep/wake cycle, decreased exploratory and locomotor activity, and a motor strength deficit. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012P22Rik C T 4: 144,418,411 R195H probably benign Het
Abcb11 T C 2: 69,257,310 Y1037C probably damaging Het
Aldh16a1 G A 7: 45,146,035 P400L probably damaging Het
Ankrd33b T C 15: 31,367,056 T113A possibly damaging Het
Aox3 T A 1: 58,127,650 N177K probably benign Het
Arhgap29 T A 3: 122,004,257 V532E probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Caskin1 G T 17: 24,500,942 G401V probably damaging Het
Cemip A T 7: 83,951,563 M950K probably damaging Het
Chrd T C 16: 20,734,541 V211A probably damaging Het
Ckap2l T C 2: 129,285,622 N212S possibly damaging Het
Clip1 T C 5: 123,647,883 D246G probably damaging Het
Dlst T C 12: 85,118,568 S82P probably benign Het
Dmxl1 T A 18: 49,894,178 L2118M possibly damaging Het
Dnah7a T C 1: 53,495,717 K2795E possibly damaging Het
Enpp5 T A 17: 44,080,845 M55K probably benign Het
Epdr1 A T 13: 19,594,471 S50T probably damaging Het
Gm6169 G T 13: 97,098,777 probably benign Het
Gm7808 T A 9: 19,928,017 probably benign Het
Huwe1 T A X: 151,907,390 F2485I possibly damaging Het
Lama1 G A 17: 67,716,789 V60M probably damaging Het
Lingo3 A T 10: 80,835,859 L79Q probably damaging Het
Magi2 T A 5: 20,228,453 probably null Het
Mob2 C A 7: 142,010,298 V33L possibly damaging Het
Mus81 G A 19: 5,485,633 probably benign Het
Nup210l G A 3: 90,136,862 G490D probably damaging Het
Olfr702 A C 7: 106,823,698 V276G possibly damaging Het
Pbp2 A G 6: 135,309,818 V177A probably damaging Het
Pomt2 T C 12: 87,111,552 D656G probably benign Het
Ppp2r1b A G 9: 50,861,769 probably benign Het
Ptprq T C 10: 107,667,472 E775G probably damaging Het
Rad54l T C 4: 116,098,984 I549V probably benign Het
Ranbp10 T C 8: 105,805,582 Y145C probably damaging Het
Runx1t1 A T 4: 13,846,884 T223S probably benign Het
Stxbp6 G T 12: 44,902,048 probably benign Het
Syne2 A G 12: 75,946,706 D2085G probably damaging Het
Szt2 C T 4: 118,388,564 R1064Q probably benign Het
Taar3 A G 10: 23,950,167 T204A probably benign Het
Tdpoz1 A G 3: 93,670,443 S345P probably damaging Het
Tgm4 T A 9: 123,046,529 I149N probably damaging Het
Tubal3 T A 13: 3,930,675 I129N probably damaging Het
Vegfc T C 8: 54,181,401 F372L possibly damaging Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vwf C A 6: 125,616,034 L786M probably benign Het
Other mutations in Kcnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Kcnb2 APN 1 15711012 missense probably benign 0.02
IGL01321:Kcnb2 APN 1 15312923 missense probably benign 0.09
IGL01353:Kcnb2 APN 1 15710824 missense probably benign 0.02
IGL01990:Kcnb2 APN 1 15312954 missense probably benign 0.19
IGL02008:Kcnb2 APN 1 15710809 missense probably benign 0.00
IGL02370:Kcnb2 APN 1 15710935 missense probably benign
IGL02526:Kcnb2 APN 1 15710755 missense probably damaging 1.00
IGL02859:Kcnb2 APN 1 15710506 missense probably damaging 1.00
IGL03039:Kcnb2 APN 1 15711211 missense probably benign
IGL03144:Kcnb2 APN 1 15709888 missense probably damaging 1.00
F5770:Kcnb2 UTSW 1 15710091 missense probably benign 0.07
PIT4131001:Kcnb2 UTSW 1 15312976 missense possibly damaging 0.92
R0266:Kcnb2 UTSW 1 15712913 unclassified probably benign
R0538:Kcnb2 UTSW 1 15712884 unclassified probably benign
R0611:Kcnb2 UTSW 1 15710440 missense probably benign 0.07
R1542:Kcnb2 UTSW 1 15710788 missense probably benign 0.01
R1732:Kcnb2 UTSW 1 15709755 missense probably benign 0.02
R1995:Kcnb2 UTSW 1 15709766 missense possibly damaging 0.66
R2166:Kcnb2 UTSW 1 15711316 missense possibly damaging 0.82
R2444:Kcnb2 UTSW 1 15709567 missense probably benign
R3025:Kcnb2 UTSW 1 15710835 missense possibly damaging 0.87
R3886:Kcnb2 UTSW 1 15710415 missense probably damaging 1.00
R5010:Kcnb2 UTSW 1 15312962 missense probably benign 0.09
R5039:Kcnb2 UTSW 1 15709500 missense probably damaging 1.00
R5096:Kcnb2 UTSW 1 15710844 missense probably benign 0.45
R5444:Kcnb2 UTSW 1 15711492 missense probably benign
R5926:Kcnb2 UTSW 1 15313011 missense probably benign 0.01
R6010:Kcnb2 UTSW 1 15710566 missense possibly damaging 0.85
R6371:Kcnb2 UTSW 1 15711212 missense probably benign
R6724:Kcnb2 UTSW 1 15710440 missense probably damaging 1.00
R6981:Kcnb2 UTSW 1 15710256 missense probably damaging 1.00
R7043:Kcnb2 UTSW 1 15312926 missense probably benign
V7580:Kcnb2 UTSW 1 15710091 missense probably benign 0.07
V7581:Kcnb2 UTSW 1 15710091 missense probably benign 0.07
V7582:Kcnb2 UTSW 1 15710091 missense probably benign 0.07
V7583:Kcnb2 UTSW 1 15710091 missense probably benign 0.07
Z1088:Kcnb2 UTSW 1 15710091 missense probably benign 0.03
Z1088:Kcnb2 UTSW 1 15711028 missense probably benign 0.01
Posted On2015-04-16