Incidental Mutation 'R4178:Kcnab2'
ID 319585
Institutional Source Beutler Lab
Gene Symbol Kcnab2
Ensembl Gene ENSMUSG00000028931
Gene Name potassium voltage-gated channel, shaker-related subfamily, beta member 2
Synonyms F5, I2rf5, Kcnb3, I2rf5
MMRRC Submission 040864-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R4178 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 152475201-152562006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152489058 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 109 (R109G)
Ref Sequence ENSEMBL: ENSMUSP00000125270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030768] [ENSMUST00000105648] [ENSMUST00000159186] [ENSMUST00000159840] [ENSMUST00000160884] [ENSMUST00000161236]
AlphaFold P62482
Predicted Effect probably null
Transcript: ENSMUST00000030768
AA Change: R95G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030768
Gene: ENSMUSG00000028931
AA Change: R95G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 37 342 1.6e-76 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000105648
AA Change: R109G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101273
Gene: ENSMUSG00000028931
AA Change: R109G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 356 7e-77 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000159186
AA Change: R109G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124588
Gene: ENSMUSG00000028931
AA Change: R109G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 371 4.3e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159435
Predicted Effect probably null
Transcript: ENSMUST00000159840
AA Change: R95G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124156
Gene: ENSMUSG00000028931
AA Change: R95G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 37 342 1.6e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159844
Predicted Effect probably null
Transcript: ENSMUST00000160884
AA Change: R109G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125058
Gene: ENSMUSG00000028931
AA Change: R109G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 356 7e-77 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000161236
AA Change: R109G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000125270
Gene: ENSMUSG00000028931
AA Change: R109G

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 134 4.9e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161496
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.3%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Antxrl A G 14: 33,776,928 (GRCm39) probably null Het
Atp2b2 A T 6: 113,770,679 (GRCm39) V410E probably damaging Het
C6 G A 15: 4,764,621 (GRCm39) V106I probably benign Het
Cdhr1 A C 14: 36,804,896 (GRCm39) probably null Het
Cfap44 T A 16: 44,272,216 (GRCm39) L1323Q possibly damaging Het
Ehd4 T A 2: 119,984,829 (GRCm39) Y43F probably damaging Het
Eno1 T C 4: 150,328,490 (GRCm39) I90T possibly damaging Het
Epb41l1 A G 2: 156,363,477 (GRCm39) Y662C probably benign Het
Fkbp14 A G 6: 54,566,299 (GRCm39) L103P probably damaging Het
Gm10322 C A 10: 59,452,052 (GRCm39) N56K probably benign Het
Iqcd C A 5: 120,740,476 (GRCm39) T269K probably damaging Het
Kat6b T A 14: 21,668,972 (GRCm39) C249* probably null Het
Obox7 A G 7: 14,398,032 (GRCm39) Q24R probably damaging Het
Obox7 C A 7: 14,398,031 (GRCm39) Q24K probably damaging Het
Or5p1 A G 7: 107,916,565 (GRCm39) N155D probably damaging Het
Or5p68 G A 7: 107,945,765 (GRCm39) T141I probably benign Het
Or8g18 A C 9: 39,149,375 (GRCm39) L115* probably null Het
Rasgrf2 C T 13: 92,038,717 (GRCm39) G1043D probably damaging Het
Slf1 A G 13: 77,191,688 (GRCm39) S1049P probably damaging Het
Smc1b A T 15: 85,004,848 (GRCm39) F409I possibly damaging Het
Tab2 A G 10: 7,795,123 (GRCm39) V453A probably damaging Het
Ubr4 A G 4: 139,120,725 (GRCm39) Y338C probably damaging Het
Usp6nl A G 2: 6,445,787 (GRCm39) E588G probably benign Het
Vcan T C 13: 89,873,666 (GRCm39) R63G probably damaging Het
Zfp775 A G 6: 48,590,187 (GRCm39) probably null Het
Zfpm2 T C 15: 40,966,940 (GRCm39) C1010R probably damaging Het
Other mutations in Kcnab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01392:Kcnab2 APN 4 152,478,254 (GRCm39) missense possibly damaging 0.94
IGL02201:Kcnab2 APN 4 152,486,375 (GRCm39) unclassified probably benign
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
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
Predicted Primers PCR Primer
(F):5'- GACCATTCCTGCGGTAATCAG -3'
(R):5'- CAGAGCTAACGCCACATAGG -3'

Sequencing Primer
(F):5'- CGGTAATCAGGAAAGAGCAACCC -3'
(R):5'- TCTCTCTTGCTTCACAGAG -3'
Posted On 2015-06-10