Incidental Mutation 'IGL02526:Kcnb2'
ID297091
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 #IGL02526
Quality Score
Status
Chromosome1
Chromosomal Location15287254-15723750 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 15710755 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 617 (E617G)
Ref Sequence ENSEMBL: ENSMUSP00000135382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170146] [ENSMUST00000175681]
Predicted Effect probably damaging
Transcript: ENSMUST00000170146
AA Change: E617G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000175681
AA Change: E617G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: E617G

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad10 A G 5: 121,646,860 V231A probably damaging Het
Aff4 T C 11: 53,406,682 probably benign Het
Ano2 G A 6: 125,872,751 probably null Het
Aspm A G 1: 139,489,719 E2818G probably benign Het
Atp2a3 C A 11: 72,975,339 H262N probably benign Het
Caprin1 T C 2: 103,775,603 probably benign Het
Clca2 T C 3: 145,088,018 H292R probably benign Het
Dnah11 G A 12: 118,179,618 T430M possibly damaging Het
Fgd6 A G 10: 94,100,511 N902S probably benign Het
Grm3 A G 5: 9,589,847 I66T probably damaging Het
H13 T A 2: 152,688,682 F158L probably damaging Het
Kcnh7 T C 2: 62,850,437 S269G possibly damaging Het
Krit1 T A 5: 3,822,103 I376N probably damaging Het
Lonrf2 T A 1: 38,800,710 M435L probably benign Het
Map2 A T 1: 66,380,717 D69V possibly damaging Het
Mon1b G T 8: 113,638,823 R261L possibly damaging Het
Myh3 C T 11: 67,087,545 P453S probably benign Het
Olfr557 T A 7: 102,699,084 V282D possibly damaging Het
Pi4k2b T C 5: 52,767,739 F442L probably damaging Het
Pla2g12b T A 10: 59,416,453 C49S probably damaging Het
Polr2a C T 11: 69,739,467 R1258Q probably benign Het
Prmt8 A C 6: 127,711,823 S195A probably damaging Het
Pwp1 T A 10: 85,882,103 probably null Het
Rxfp1 C A 3: 79,670,846 probably null Het
Skor1 A T 9: 63,145,877 M270K probably damaging Het
Slc12a4 T C 8: 105,949,806 N495D possibly damaging Het
Slc26a3 T C 12: 31,457,096 V350A probably damaging Het
Slc44a4 T A 17: 34,928,487 V430D probably damaging Het
Slit2 C A 5: 48,304,223 C1537* probably null Het
Tas2r135 A T 6: 42,406,280 H251L probably damaging Het
Tbr1 T C 2: 61,811,698 F436L probably benign Het
Them6 A T 15: 74,721,655 T121S possibly damaging Het
Tmem145 G A 7: 25,308,232 M221I probably benign Het
Trrap T C 5: 144,824,550 V2300A probably benign Het
Usf3 C A 16: 44,220,311 A1718D possibly damaging Het
Usp10 C A 8: 119,948,775 S511Y probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wnt9a T C 11: 59,328,505 F119S probably damaging Het
Zc3h7b G A 15: 81,793,137 G880S 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
IGL02120:Kcnb2 APN 1 15709861 missense probably damaging 0.98
IGL02370:Kcnb2 APN 1 15710935 missense probably benign
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
R7352:Kcnb2 UTSW 1 15710611 missense probably benign
R7419:Kcnb2 UTSW 1 15711027 missense possibly damaging 0.94
R7425:Kcnb2 UTSW 1 15709807 missense probably damaging 1.00
R7606:Kcnb2 UTSW 1 15312840 missense probably damaging 1.00
R7978:Kcnb2 UTSW 1 15710613 missense probably benign 0.15
R7983:Kcnb2 UTSW 1 15312780 missense probably damaging 0.98
R8115:Kcnb2 UTSW 1 15711627 makesense probably null
R8156:Kcnb2 UTSW 1 15710056 missense probably damaging 1.00
R8408:Kcnb2 UTSW 1 15711553 missense probably damaging 1.00
R8439:Kcnb2 UTSW 1 15312710 missense probably damaging 1.00
R8726:Kcnb2 UTSW 1 15710652 missense probably benign 0.00
R8738:Kcnb2 UTSW 1 15710424 missense probably benign 0.07
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
Z1177:Kcnb2 UTSW 1 15710958 missense possibly damaging 0.93
Posted On2015-04-16