Incidental Mutation 'R6519:Kcnab2'
ID 520973
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 044646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # R6519 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 152475201-152562006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 152496450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 65 (T65A)
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
AA Change: T51A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000030768
Gene: ENSMUSG00000028931
AA Change: T51A

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 37 342 1.6e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105648
AA Change: T65A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000101273
Gene: ENSMUSG00000028931
AA Change: T65A

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 356 7e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159186
AA Change: T65A

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124588
Gene: ENSMUSG00000028931
AA Change: T65A

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 371 4.3e-74 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159435
Predicted Effect probably benign
Transcript: ENSMUST00000159840
AA Change: T51A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000124156
Gene: ENSMUSG00000028931
AA Change: T51A

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 37 342 1.6e-76 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159844
Predicted Effect probably benign
Transcript: ENSMUST00000160884
AA Change: T65A

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125058
Gene: ENSMUSG00000028931
AA Change: T65A

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 356 7e-77 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161236
AA Change: T65A

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125270
Gene: ENSMUSG00000028931
AA Change: T65A

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 134 4.9e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161844
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161496
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.5%
  • 20x: 91.7%
Validation Efficiency 97% (58/60)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4gnt T C 9: 99,495,723 (GRCm39) I53T probably damaging Het
Adgrv1 C T 13: 81,715,462 (GRCm39) D909N probably benign Het
Ahdc1 T C 4: 132,792,079 (GRCm39) Y1107H possibly damaging Het
Aldob A T 4: 49,543,835 (GRCm39) V49E probably damaging Het
Apol6 T A 15: 76,935,476 (GRCm39) Y248* probably null Het
Apol7b T A 15: 77,307,548 (GRCm39) T316S probably benign Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
Brca2 A C 5: 150,464,444 (GRCm39) T1403P probably damaging Het
Cblc T C 7: 19,526,788 (GRCm39) Y148C probably damaging Het
Cct7 C A 6: 85,439,132 (GRCm39) Q149K probably benign Het
Cd53 T A 3: 106,669,461 (GRCm39) H179L probably benign Het
Cyp2b19 A G 7: 26,458,536 (GRCm39) T84A probably benign Het
Cyp3a41a A G 5: 145,652,308 (GRCm39) C64R probably damaging Het
Dclre1c T C 2: 3,430,366 (GRCm39) Y75H probably damaging Het
Dhx35 A T 2: 158,673,630 (GRCm39) I354F probably damaging Het
Diaph3 T C 14: 87,203,771 (GRCm39) N629S probably damaging Het
Dnase1 A T 16: 3,856,453 (GRCm39) S132C probably damaging Het
Dnttip2 T C 3: 122,069,120 (GRCm39) S112P probably benign Het
Eif4g3 C A 4: 137,721,319 (GRCm39) P48T probably benign Het
Fat4 A T 3: 39,057,020 (GRCm39) T4239S probably benign Het
Fbn2 A G 18: 58,196,647 (GRCm39) V1419A possibly damaging Het
Ghitm A C 14: 36,847,204 (GRCm39) M290R probably damaging Het
Glb1l T C 1: 75,177,700 (GRCm39) D406G probably benign Het
Glipr1l1 C A 10: 111,898,153 (GRCm39) A86D probably benign Het
Golm2 T C 2: 121,737,218 (GRCm39) V141A probably benign Het
Grm7 C T 6: 111,184,713 (GRCm39) A348V probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hdac2 T A 10: 36,865,252 (GRCm39) N155K probably damaging Het
Hus1b A G 13: 31,130,930 (GRCm39) I243T probably benign Het
Lasp1 T A 11: 97,706,383 (GRCm39) probably null Het
Lrch3 G A 16: 32,815,367 (GRCm39) probably benign Het
Ltb4r2 C T 14: 56,000,438 (GRCm39) T353M probably benign Het
Macf1 A G 4: 123,366,118 (GRCm39) M1316T probably benign Het
Msr1 G A 8: 40,077,262 (GRCm39) T116I probably benign Het
Nlrp5 A G 7: 23,117,343 (GRCm39) I356V probably benign Het
Npy C T 6: 49,800,669 (GRCm39) S31F possibly damaging Het
Nsd3 C T 8: 26,152,955 (GRCm39) P432S probably damaging Het
Nup160 A C 2: 90,548,561 (GRCm39) R1037S probably damaging Het
Or12j4 T A 7: 140,046,458 (GRCm39) S115T probably benign Het
Or4b1d A T 2: 89,969,156 (GRCm39) I109N possibly damaging Het
Or8s5 C T 15: 98,237,929 (GRCm39) G314R probably benign Het
Pcx A G 19: 4,652,239 (GRCm39) E108G possibly damaging Het
Pecam1 A T 11: 106,590,468 (GRCm39) M102K probably benign Het
Pgd G T 4: 149,235,343 (GRCm39) Y433* probably null Het
Pkd1l3 A G 8: 110,355,404 (GRCm39) E744G probably benign Het
Rb1 A G 14: 73,535,503 (GRCm39) I118T probably benign Het
Rdh11 T A 12: 79,229,589 (GRCm39) H228L probably damaging Het
Rnf44 C T 13: 54,829,599 (GRCm39) R340Q probably damaging Het
Rtraf A G 14: 19,869,998 (GRCm39) V88A possibly damaging Het
Sigmar1 T C 4: 41,739,380 (GRCm39) T185A possibly damaging Het
Thsd1 A G 8: 22,749,081 (GRCm39) R590G probably damaging Het
Trappc14 A G 5: 138,260,110 (GRCm39) S344P probably damaging Het
Trbv19 T C 6: 41,155,573 (GRCm39) probably benign Het
Txnrd3 T C 6: 89,631,405 (GRCm39) probably null Het
Wwc1 C T 11: 35,744,264 (GRCm39) E853K probably benign Het
Xpnpep1 T C 19: 53,000,275 (GRCm39) N192D possibly damaging Het
Zfp955b T A 17: 33,521,051 (GRCm39) S173R possibly damaging Het
Zranb1 T A 7: 132,551,857 (GRCm39) C195* probably null 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
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
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'- GGCTTGCTAGATAGTGCCAC -3'
(R):5'- TATCTGGAGACTCACCCTGG -3'

Sequencing Primer
(F):5'- ACTGGGCACAACTTTCCC -3'
(R):5'- TCACCCTGGAGGCTAAGTAC -3'
Posted On 2018-06-06