Incidental Mutation 'IGL02201:Kcnab2'
ID 284207
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kcnab2
Ensembl Gene ENSMUSG00000028931
Gene Name potassium voltage-gated channel, shaker-related subfamily, beta member 2
Synonyms F5, I2rf5, Kcnb3, I2rf5
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL02201
Quality Score
Status
Chromosome 4
Chromosomal Location 152475201-152562006 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 152486375 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030768] [ENSMUST00000105648] [ENSMUST00000159186] [ENSMUST00000159840] [ENSMUST00000160884] [ENSMUST00000161236]
AlphaFold P62482
Predicted Effect probably benign
Transcript: ENSMUST00000030768
SMART Domains Protein: ENSMUSP00000030768
Gene: ENSMUSG00000028931

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 37 342 1.6e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105648
SMART Domains Protein: ENSMUSP00000101273
Gene: ENSMUSG00000028931

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 356 7e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159186
SMART Domains Protein: ENSMUSP00000124588
Gene: ENSMUSG00000028931

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 371 4.3e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159435
Predicted Effect probably benign
Transcript: ENSMUST00000159840
SMART Domains Protein: ENSMUSP00000124156
Gene: ENSMUSG00000028931

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 37 342 1.6e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159844
Predicted Effect probably benign
Transcript: ENSMUST00000160884
SMART Domains Protein: ENSMUSP00000125058
Gene: ENSMUSG00000028931

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 356 7e-77 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161496
Predicted Effect probably benign
Transcript: ENSMUST00000161236
SMART Domains Protein: ENSMUSP00000125270
Gene: ENSMUSG00000028931

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 134 4.9e-21 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, shaker-related subfamily. This member is one of the beta subunits, which are auxiliary proteins associating with functional Kv-alpha subunits. This member alters functional properties of the KCNA4 gene product. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Dec 2010]
PHENOTYPE: Homozygous null mice show strain-specific changes in survival, body weight, thermoregulation and cold-swim induced tremors, impaired associative learning and memory, sporadic seizures and amygala hyperexcitability. Mice homozygous for a knock-in mutationshow no deficits in associative learning. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl3 G A 1: 78,676,870 (GRCm39) G484R probably damaging Het
Adgrb3 A G 1: 25,459,631 (GRCm39) probably benign Het
Akr1c14 A G 13: 4,131,022 (GRCm39) D238G probably damaging Het
Ccdc88b T A 19: 6,823,999 (GRCm39) D1418V probably damaging Het
Cnnm4 A T 1: 36,511,831 (GRCm39) K353M probably damaging Het
Col6a6 A G 9: 105,658,194 (GRCm39) F673L probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dyrk1a A G 16: 94,493,008 (GRCm39) E747G probably benign Het
Eml5 T A 12: 98,760,683 (GRCm39) probably benign Het
Ercc6l2 A G 13: 64,000,783 (GRCm39) N516D probably benign Het
Fbxl17 A G 17: 63,806,024 (GRCm39) L330P probably damaging Het
Fgr A T 4: 132,722,235 (GRCm39) Y168F probably damaging Het
Frem2 T G 3: 53,427,061 (GRCm39) K2962N probably benign Het
Hdac4 G T 1: 91,915,382 (GRCm39) probably null Het
Il1r1 A T 1: 40,352,428 (GRCm39) N533Y probably damaging Het
Knl1 C T 2: 118,899,633 (GRCm39) P445S probably benign Het
Lamb2 G A 9: 108,364,741 (GRCm39) C1165Y probably damaging Het
Nisch C T 14: 30,909,051 (GRCm39) probably benign Het
Or1i2 C T 10: 78,448,104 (GRCm39) V124M probably damaging Het
Or2m12 A T 16: 19,105,212 (GRCm39) S94T probably benign Het
Or8b40 A G 9: 38,027,893 (GRCm39) D267G probably benign Het
Or8h7 A G 2: 86,721,420 (GRCm39) L33P probably damaging Het
Pde3b T A 7: 114,133,843 (GRCm39) M953K probably damaging Het
Pdzph1 A G 17: 59,274,506 (GRCm39) probably benign Het
Plce1 T C 19: 38,757,890 (GRCm39) probably benign Het
Prr23a3 G T 9: 98,747,297 (GRCm39) V84L possibly damaging Het
Psg26 A G 7: 18,214,071 (GRCm39) V197A probably benign Het
Ptpra T A 2: 30,336,389 (GRCm39) C80S possibly damaging Het
Ripk4 A T 16: 97,556,377 (GRCm39) V122E possibly damaging Het
Scd2 A G 19: 44,289,779 (GRCm39) N258S probably damaging Het
Slc38a1 A T 15: 96,476,679 (GRCm39) V394E probably damaging Het
Slc7a15 A G 12: 8,589,023 (GRCm39) S175P possibly damaging Het
Tacc2 T A 7: 130,227,942 (GRCm39) D1542E possibly damaging Het
Trim67 G T 8: 125,520,797 (GRCm39) R53L probably benign Het
Urah A T 7: 140,415,576 (GRCm39) T38S probably damaging Het
Vps13c A G 9: 67,874,418 (GRCm39) S3362G probably damaging Het
Wwc1 T C 11: 35,734,978 (GRCm39) probably benign Het
Zfyve28 T C 5: 34,400,549 (GRCm39) T50A probably damaging Het
Other mutations in Kcnab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Kcnab2 APN 4 152,478,254 (GRCm39) missense possibly damaging 0.94
IGL02449:Kcnab2 APN 4 152,496,441 (GRCm39) critical splice donor site probably null
IGL02957:Kcnab2 APN 4 152,520,326 (GRCm39) missense possibly damaging 0.62
R0415:Kcnab2 UTSW 4 152,479,593 (GRCm39) missense probably benign 0.39
R0485:Kcnab2 UTSW 4 152,479,439 (GRCm39) missense probably benign
R1759:Kcnab2 UTSW 4 152,477,509 (GRCm39) missense probably damaging 0.99
R1933:Kcnab2 UTSW 4 152,520,323 (GRCm39) missense possibly damaging 0.66
R3037:Kcnab2 UTSW 4 152,478,213 (GRCm39) missense possibly damaging 0.94
R3913:Kcnab2 UTSW 4 152,479,689 (GRCm39) missense probably damaging 0.99
R4178:Kcnab2 UTSW 4 152,489,058 (GRCm39) missense probably null 1.00
R4863:Kcnab2 UTSW 4 152,486,403 (GRCm39) missense probably damaging 1.00
R4919:Kcnab2 UTSW 4 152,486,397 (GRCm39) missense probably damaging 1.00
R5996:Kcnab2 UTSW 4 152,519,287 (GRCm39) splice site probably null
R6519:Kcnab2 UTSW 4 152,496,450 (GRCm39) missense probably damaging 0.96
R7753:Kcnab2 UTSW 4 152,481,218 (GRCm39) missense probably benign 0.11
R9025:Kcnab2 UTSW 4 152,491,635 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16