Incidental Mutation 'IGL01353:Kcnb2'
ID 75436
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnb2
Ensembl Gene ENSMUSG00000092083
Gene Name potassium voltage gated channel, Shab-related subfamily, member 2
Synonyms Kv2.2, 9630047L19Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01353
Quality Score
Status
Chromosome 1
Chromosomal Location 15357478-15793974 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 15781048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 640 (T640K)
Ref Sequence ENSEMBL: ENSMUSP00000135382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170146] [ENSMUST00000175681]
AlphaFold A6H8H5
Predicted Effect probably benign
Transcript: ENSMUST00000170146
AA Change: T640K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
Predicted Effect probably benign
Transcript: ENSMUST00000175681
AA Change: T640K

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: T640K

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc3 A T 11: 94,242,934 (GRCm39) V1304E possibly damaging Het
Acr T C 15: 89,453,695 (GRCm39) L78P probably damaging Het
Adamts12 T C 15: 11,292,091 (GRCm39) probably benign Het
Adgrb2 T C 4: 129,906,093 (GRCm39) S872P probably damaging Het
Adhfe1 T A 1: 9,637,088 (GRCm39) N413K probably benign Het
Apoh T A 11: 108,288,211 (GRCm39) C110S probably damaging Het
Arhgap11a A G 2: 113,663,869 (GRCm39) F805L probably damaging Het
Bin3 C T 14: 70,372,275 (GRCm39) L191F possibly damaging Het
Col3a1 A G 1: 45,372,798 (GRCm39) probably benign Het
Dapp1 T C 3: 137,667,241 (GRCm39) K107R probably benign Het
Dnah5 T C 15: 28,233,418 (GRCm39) V259A probably benign Het
Dnah6 T C 6: 73,150,439 (GRCm39) M775V probably benign Het
Dnah9 A G 11: 65,971,397 (GRCm39) L1597P probably damaging Het
Elfn2 G A 15: 78,556,618 (GRCm39) A643V possibly damaging Het
Epha6 T C 16: 60,245,258 (GRCm39) T314A probably damaging Het
Fn1 C A 1: 71,626,098 (GRCm39) W2237L probably damaging Het
Foxp4 T A 17: 48,199,078 (GRCm39) D97V probably damaging Het
Lypd10 G T 7: 24,413,662 (GRCm39) S226I probably damaging Het
Miga2 G A 2: 30,261,245 (GRCm39) probably null Het
Nacad T A 11: 6,550,530 (GRCm39) Q887L possibly damaging Het
Or2m13 C T 16: 19,226,333 (GRCm39) M145I probably benign Het
Or4d1 T C 11: 87,804,998 (GRCm39) I245V probably benign Het
Or7e173 T C 9: 19,938,343 (GRCm39) N297S probably damaging Het
Or8k24 A T 2: 86,216,365 (GRCm39) Y132* probably null Het
Otub2 A T 12: 103,370,581 (GRCm39) M288L probably benign Het
Otud4 A G 8: 80,391,650 (GRCm39) S432G probably benign Het
Pcca G A 14: 122,820,029 (GRCm39) V58I probably damaging Het
Pdpr T A 8: 111,847,910 (GRCm39) probably null Het
Pinx1 C A 14: 64,103,564 (GRCm39) Q48K probably benign Het
Pkd1l2 G T 8: 117,784,182 (GRCm39) S698R probably benign Het
Psg29 A G 7: 16,938,938 (GRCm39) R71G possibly damaging Het
Psmd3 T A 11: 98,581,426 (GRCm39) V271E probably benign Het
Smarcc1 A G 9: 109,964,734 (GRCm39) N97S probably benign Het
Sulf2 C T 2: 165,929,015 (GRCm39) G319S probably damaging Het
Tmem67 C A 4: 12,079,895 (GRCm39) C132F probably damaging Het
Ttll7 T C 3: 146,667,474 (GRCm39) L780P probably damaging Het
Vmn1r223 A G 13: 23,433,426 (GRCm39) T7A unknown Het
Vmn1r76 T G 7: 11,664,737 (GRCm39) H159P probably damaging Het
Vnn1 G A 10: 23,776,738 (GRCm39) C363Y probably damaging Het
Wdr64 T G 1: 175,559,151 (GRCm39) L305V probably damaging Het
Zkscan4 T C 13: 21,668,518 (GRCm39) L323P probably damaging Het
Zscan10 A T 17: 23,828,574 (GRCm39) H295L probably damaging Het
Other mutations in Kcnb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Kcnb2 APN 1 15,781,236 (GRCm39) missense probably benign 0.02
IGL01321:Kcnb2 APN 1 15,383,147 (GRCm39) missense probably benign 0.09
IGL01990:Kcnb2 APN 1 15,383,178 (GRCm39) missense probably benign 0.19
IGL02008:Kcnb2 APN 1 15,781,033 (GRCm39) missense probably benign 0.00
IGL02120:Kcnb2 APN 1 15,780,085 (GRCm39) missense probably damaging 0.98
IGL02370:Kcnb2 APN 1 15,781,159 (GRCm39) missense probably benign
IGL02526:Kcnb2 APN 1 15,780,979 (GRCm39) missense probably damaging 1.00
IGL02859:Kcnb2 APN 1 15,780,730 (GRCm39) missense probably damaging 1.00
IGL03039:Kcnb2 APN 1 15,781,435 (GRCm39) missense probably benign
IGL03144:Kcnb2 APN 1 15,780,112 (GRCm39) missense probably damaging 1.00
F5770:Kcnb2 UTSW 1 15,780,315 (GRCm39) missense probably benign 0.07
PIT4131001:Kcnb2 UTSW 1 15,383,200 (GRCm39) missense possibly damaging 0.92
R0266:Kcnb2 UTSW 1 15,783,137 (GRCm39) unclassified probably benign
R0538:Kcnb2 UTSW 1 15,783,108 (GRCm39) unclassified probably benign
R0611:Kcnb2 UTSW 1 15,780,664 (GRCm39) missense probably benign 0.07
R1542:Kcnb2 UTSW 1 15,781,012 (GRCm39) missense probably benign 0.01
R1732:Kcnb2 UTSW 1 15,779,979 (GRCm39) missense probably benign 0.02
R1995:Kcnb2 UTSW 1 15,779,990 (GRCm39) missense possibly damaging 0.66
R2166:Kcnb2 UTSW 1 15,781,540 (GRCm39) missense possibly damaging 0.82
R2444:Kcnb2 UTSW 1 15,779,791 (GRCm39) missense probably benign
R3025:Kcnb2 UTSW 1 15,781,059 (GRCm39) missense possibly damaging 0.87
R3886:Kcnb2 UTSW 1 15,780,639 (GRCm39) missense probably damaging 1.00
R5010:Kcnb2 UTSW 1 15,383,186 (GRCm39) missense probably benign 0.09
R5039:Kcnb2 UTSW 1 15,779,724 (GRCm39) missense probably damaging 1.00
R5096:Kcnb2 UTSW 1 15,781,068 (GRCm39) missense probably benign 0.45
R5444:Kcnb2 UTSW 1 15,781,716 (GRCm39) missense probably benign
R5926:Kcnb2 UTSW 1 15,383,235 (GRCm39) missense probably benign 0.01
R6010:Kcnb2 UTSW 1 15,780,790 (GRCm39) missense possibly damaging 0.85
R6371:Kcnb2 UTSW 1 15,781,436 (GRCm39) missense probably benign
R6724:Kcnb2 UTSW 1 15,780,664 (GRCm39) missense probably damaging 1.00
R6981:Kcnb2 UTSW 1 15,780,480 (GRCm39) missense probably damaging 1.00
R7043:Kcnb2 UTSW 1 15,383,150 (GRCm39) missense probably benign
R7352:Kcnb2 UTSW 1 15,780,835 (GRCm39) missense probably benign
R7419:Kcnb2 UTSW 1 15,781,251 (GRCm39) missense possibly damaging 0.94
R7425:Kcnb2 UTSW 1 15,780,031 (GRCm39) missense probably damaging 1.00
R7606:Kcnb2 UTSW 1 15,383,064 (GRCm39) missense probably damaging 1.00
R7978:Kcnb2 UTSW 1 15,780,837 (GRCm39) missense probably benign 0.15
R7983:Kcnb2 UTSW 1 15,383,004 (GRCm39) missense probably damaging 0.98
R8115:Kcnb2 UTSW 1 15,781,851 (GRCm39) makesense probably null
R8156:Kcnb2 UTSW 1 15,780,280 (GRCm39) missense probably damaging 1.00
R8408:Kcnb2 UTSW 1 15,781,777 (GRCm39) missense probably damaging 1.00
R8439:Kcnb2 UTSW 1 15,382,934 (GRCm39) missense probably damaging 1.00
R8726:Kcnb2 UTSW 1 15,780,876 (GRCm39) missense probably benign 0.00
R8738:Kcnb2 UTSW 1 15,780,648 (GRCm39) missense probably benign 0.07
R9274:Kcnb2 UTSW 1 15,781,723 (GRCm39) missense probably benign
R9321:Kcnb2 UTSW 1 15,779,793 (GRCm39) missense possibly damaging 0.46
R9563:Kcnb2 UTSW 1 15,779,737 (GRCm39) missense probably damaging 1.00
R9633:Kcnb2 UTSW 1 15,781,444 (GRCm39) missense probably benign
R9709:Kcnb2 UTSW 1 15,780,523 (GRCm39) missense probably benign 0.31
V7580:Kcnb2 UTSW 1 15,780,315 (GRCm39) missense probably benign 0.07
V7581:Kcnb2 UTSW 1 15,780,315 (GRCm39) missense probably benign 0.07
V7582:Kcnb2 UTSW 1 15,780,315 (GRCm39) missense probably benign 0.07
V7583:Kcnb2 UTSW 1 15,780,315 (GRCm39) missense probably benign 0.07
Z1088:Kcnb2 UTSW 1 15,781,252 (GRCm39) missense probably benign 0.01
Z1088:Kcnb2 UTSW 1 15,780,315 (GRCm39) missense probably benign 0.03
Z1177:Kcnb2 UTSW 1 15,781,182 (GRCm39) missense possibly damaging 0.93
Posted On 2013-10-07