Incidental Mutation 'R0139:Kcnb1'
ID 22159
Institutional Source Beutler Lab
Gene Symbol Kcnb1
Ensembl Gene ENSMUSG00000050556
Gene Name potassium voltage gated channel, Shab-related subfamily, member 1
Synonyms Shab, Kcr1-1, Kv2.1
MMRRC Submission 038424-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0139 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 166937889-167032075 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 166947459 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 463 (I463T)
Ref Sequence ENSEMBL: ENSMUSP00000147093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059826] [ENSMUST00000207917]
AlphaFold Q03717
Predicted Effect possibly damaging
Transcript: ENSMUST00000059826
AA Change: I463T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057981
Gene: ENSMUSG00000050556
AA Change: I463T

DomainStartEndE-ValueType
BTB 31 140 1.3e-14 SMART
low complexity region 150 162 N/A INTRINSIC
Pfam:Ion_trans 188 424 2.4e-50 PFAM
Pfam:Ion_trans_2 332 418 1.2e-13 PFAM
Pfam:Kv2channel 467 618 5.4e-48 PFAM
low complexity region 698 706 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148226
Predicted Effect possibly damaging
Transcript: ENSMUST00000207917
AA Change: I463T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
Meta Mutation Damage Score 0.0746 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 91.2%
Validation Efficiency 97% (89/92)
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 and its activity is modulated by some other family members. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele show reduced fasting glucose levels, hyperinsulinemia, improved glucose tolerance, altered glucose-induced electrical activity of pancreatic beta cells, and enhanced insulin secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A230072I06Rik C T 8: 12,329,899 (GRCm39) S118L unknown Het
Adprs A G 4: 126,211,947 (GRCm39) Y122H probably damaging Het
Ankrd52 T C 10: 128,222,007 (GRCm39) S544P probably benign Het
Aopep A G 13: 63,338,298 (GRCm39) N558S probably benign Het
Arhgef7 A G 8: 11,850,503 (GRCm39) E111G probably damaging Het
Atp11a A G 8: 12,896,054 (GRCm39) M755V probably benign Het
Atp2a2 A G 5: 122,629,778 (GRCm39) I97T probably damaging Het
Bmp3 G A 5: 99,027,768 (GRCm39) D463N possibly damaging Het
Cacna2d4 T C 6: 119,255,230 (GRCm39) probably benign Het
Ccdc28a G A 10: 18,106,188 (GRCm39) S46F possibly damaging Het
Ccdc40 G A 11: 119,155,125 (GRCm39) G1122S probably benign Het
Cenpw T G 10: 30,076,455 (GRCm39) T8P probably benign Het
Cfap44 G C 16: 44,253,785 (GRCm39) G893R possibly damaging Het
Cimap3 A T 3: 105,906,886 (GRCm39) M171K possibly damaging Het
Cops7a A T 6: 124,938,323 (GRCm39) C110S probably damaging Het
Cstl1 A G 2: 148,597,245 (GRCm39) N134S probably damaging Het
Cyp2s1 G T 7: 25,511,114 (GRCm39) probably null Het
Dio2 T A 12: 90,696,617 (GRCm39) N124Y probably damaging Het
Ecel1 C A 1: 87,082,248 (GRCm39) G155V possibly damaging Het
Efr3a G T 15: 65,717,830 (GRCm39) V337F possibly damaging Het
Eva1b A C 4: 126,043,446 (GRCm39) H162P probably damaging Het
Exoc5 C T 14: 49,273,493 (GRCm39) E301K probably damaging Het
F13b G A 1: 139,435,941 (GRCm39) S249N probably damaging Het
Fam120b C T 17: 15,646,446 (GRCm39) probably benign Het
Gbf1 T C 19: 46,250,231 (GRCm39) L396S probably damaging Het
Gck T A 11: 5,859,139 (GRCm39) K143* probably null Het
Gck C A 11: 5,860,370 (GRCm39) V91L probably damaging Het
Glt8d2 T C 10: 82,496,644 (GRCm39) N138S probably damaging Het
Gm4884 T C 7: 40,692,387 (GRCm39) F119L probably benign Het
Igsf11 T C 16: 38,829,240 (GRCm39) S45P probably damaging Het
Iho1 T C 9: 108,289,695 (GRCm39) T176A probably damaging Het
Il10 G A 1: 130,950,271 (GRCm39) V142M probably damaging Het
Insc A T 7: 114,368,237 (GRCm39) H9L probably damaging Het
Iqsec1 G T 6: 90,786,740 (GRCm39) probably benign Het
Katnb1 A G 8: 95,825,050 (GRCm39) S611G possibly damaging Het
Lao1 A G 4: 118,821,399 (GRCm39) N90S probably benign Het
Med16 T A 10: 79,732,635 (GRCm39) M710L probably benign Het
Mroh2a G C 1: 88,185,524 (GRCm39) E1510D probably damaging Het
Mtus1 G A 8: 41,469,233 (GRCm39) probably benign Het
Mybpc3 A G 2: 90,950,682 (GRCm39) probably benign Het
Ndor1 C T 2: 25,138,366 (GRCm39) V405M possibly damaging Het
Nell2 A G 15: 95,330,782 (GRCm39) V213A probably benign Het
Nme8 T C 13: 19,862,018 (GRCm39) I204V probably benign Het
Nup133 A T 8: 124,656,082 (GRCm39) N466K probably benign Het
Nxt1 A G 2: 148,517,390 (GRCm39) T44A probably benign Het
Or14c46 T C 7: 85,918,187 (GRCm39) E270G probably benign Het
Or2ag15 A T 7: 106,340,832 (GRCm39) I103N probably benign Het
Or2y12 C T 11: 49,426,401 (GRCm39) L130F probably benign Het
Or4e1 T C 14: 52,700,669 (GRCm39) T239A probably damaging Het
Or4f7 A T 2: 111,644,699 (GRCm39) I124K possibly damaging Het
Or7e168 C T 9: 19,720,165 (GRCm39) L184F probably damaging Het
Pced1a T C 2: 130,263,827 (GRCm39) K275R probably benign Het
Pdcd11 A G 19: 47,099,398 (GRCm39) probably null Het
Phldb2 A C 16: 45,591,029 (GRCm39) probably benign Het
Piwil1 C A 5: 128,824,387 (GRCm39) S490Y probably damaging Het
Plekhh3 T C 11: 101,054,501 (GRCm39) probably benign Het
Ppargc1b A T 18: 61,449,034 (GRCm39) probably benign Het
Psg19 C T 7: 18,530,942 (GRCm39) V71I possibly damaging Het
Ptk6 T C 2: 180,838,724 (GRCm39) probably benign Het
Pus7 A G 5: 23,983,090 (GRCm39) S126P probably damaging Het
Rab6b T A 9: 103,017,576 (GRCm39) probably null Het
Ranbp3 G A 17: 57,016,272 (GRCm39) R347Q possibly damaging Het
Sanbr A T 11: 23,570,214 (GRCm39) probably benign Het
Sbf1 A T 15: 89,186,701 (GRCm39) L866Q probably damaging Het
Slc25a34 A G 4: 141,349,663 (GRCm39) V164A possibly damaging Het
Smg1 A G 7: 117,751,898 (GRCm39) probably null Het
Spin1 G T 13: 51,303,048 (GRCm39) V214L probably benign Het
Spmip2 A T 3: 79,313,142 (GRCm39) Y72F probably damaging Het
Sptbn1 T C 11: 30,092,289 (GRCm39) N492S probably benign Het
Stk-ps2 A G 1: 46,068,955 (GRCm39) noncoding transcript Het
Taar7f T C 10: 23,926,312 (GRCm39) I302T probably benign Het
Tdrd1 C A 19: 56,831,630 (GRCm39) H340Q probably benign Het
Thumpd3 A G 6: 113,044,762 (GRCm39) D498G probably benign Het
Tpgs2 A G 18: 25,282,242 (GRCm39) L103P probably damaging Het
Trip10 A G 17: 57,568,633 (GRCm39) probably null Het
Trip6 A T 5: 137,310,436 (GRCm39) H269Q probably benign Het
Trmt12 T C 15: 58,744,743 (GRCm39) V47A possibly damaging Het
Trpm7 A T 2: 126,654,691 (GRCm39) S1416T probably benign Het
Tsks G A 7: 44,603,883 (GRCm39) A438T probably benign Het
Ttn T C 2: 76,727,630 (GRCm39) probably benign Het
Twf2 G A 9: 106,090,155 (GRCm39) V136M possibly damaging Het
Uty A C Y: 1,197,223 (GRCm39) Y115D probably damaging Het
Vcan A G 13: 89,839,380 (GRCm39) S2055P probably damaging Het
Yes1 A G 5: 32,842,039 (GRCm39) Q521R possibly damaging Het
Zfp114 A T 7: 23,880,685 (GRCm39) T344S possibly damaging Het
Zfp661 A T 2: 127,420,532 (GRCm39) V89D possibly damaging Het
Zfp91 A T 19: 12,747,834 (GRCm39) Y430N probably damaging Het
Other mutations in Kcnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01593:Kcnb1 APN 2 166,948,127 (GRCm39) missense probably damaging 1.00
IGL02945:Kcnb1 APN 2 167,030,308 (GRCm39) missense probably benign 0.03
R0144:Kcnb1 UTSW 2 166,946,467 (GRCm39) missense probably damaging 1.00
R0238:Kcnb1 UTSW 2 166,946,889 (GRCm39) missense probably benign 0.04
R0238:Kcnb1 UTSW 2 166,946,889 (GRCm39) missense probably benign 0.04
R0848:Kcnb1 UTSW 2 166,948,187 (GRCm39) missense probably damaging 1.00
R2869:Kcnb1 UTSW 2 166,947,855 (GRCm39) missense probably damaging 1.00
R2869:Kcnb1 UTSW 2 166,947,855 (GRCm39) missense probably damaging 1.00
R3964:Kcnb1 UTSW 2 166,946,412 (GRCm39) missense probably damaging 1.00
R3966:Kcnb1 UTSW 2 166,946,412 (GRCm39) missense probably damaging 1.00
R4254:Kcnb1 UTSW 2 166,947,651 (GRCm39) missense probably damaging 1.00
R4418:Kcnb1 UTSW 2 166,947,595 (GRCm39) nonsense probably null
R4625:Kcnb1 UTSW 2 167,030,153 (GRCm39) missense probably damaging 1.00
R4949:Kcnb1 UTSW 2 166,947,521 (GRCm39) missense probably damaging 1.00
R5144:Kcnb1 UTSW 2 166,947,864 (GRCm39) missense probably damaging 1.00
R5249:Kcnb1 UTSW 2 166,947,103 (GRCm39) missense possibly damaging 0.95
R5849:Kcnb1 UTSW 2 166,947,946 (GRCm39) missense probably damaging 1.00
R5869:Kcnb1 UTSW 2 167,029,991 (GRCm39) missense probably benign 0.01
R6108:Kcnb1 UTSW 2 166,947,060 (GRCm39) missense probably damaging 1.00
R6636:Kcnb1 UTSW 2 166,947,774 (GRCm39) missense probably damaging 0.99
R6637:Kcnb1 UTSW 2 166,947,774 (GRCm39) missense probably damaging 0.99
R6880:Kcnb1 UTSW 2 166,947,727 (GRCm39) missense probably damaging 1.00
R7391:Kcnb1 UTSW 2 166,947,370 (GRCm39) missense probably damaging 1.00
R7401:Kcnb1 UTSW 2 167,030,204 (GRCm39) missense probably damaging 0.99
R7651:Kcnb1 UTSW 2 167,030,281 (GRCm39) missense probably damaging 1.00
R7744:Kcnb1 UTSW 2 167,030,251 (GRCm39) missense probably damaging 1.00
R7825:Kcnb1 UTSW 2 166,947,892 (GRCm39) missense probably damaging 1.00
R7848:Kcnb1 UTSW 2 166,948,188 (GRCm39) missense probably damaging 1.00
R7934:Kcnb1 UTSW 2 166,946,536 (GRCm39) missense probably benign 0.03
R8215:Kcnb1 UTSW 2 166,946,361 (GRCm39) missense probably benign 0.43
R8241:Kcnb1 UTSW 2 166,948,117 (GRCm39) missense probably damaging 1.00
R8388:Kcnb1 UTSW 2 166,947,217 (GRCm39) missense probably benign
R8553:Kcnb1 UTSW 2 166,946,531 (GRCm39) missense possibly damaging 0.67
R9353:Kcnb1 UTSW 2 166,947,007 (GRCm39) missense probably benign
R9622:Kcnb1 UTSW 2 167,030,161 (GRCm39) missense probably damaging 1.00
Z1088:Kcnb1 UTSW 2 167,029,981 (GRCm39) missense probably benign 0.38
Z1176:Kcnb1 UTSW 2 167,030,322 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCAAGTGCTGCGGACTAGACGAG -3'
(R):5'- GACCGTTGGTTACGGAGACATCTAC -3'

Sequencing Primer
(F):5'- ACTAGACGAGGACCTGGC -3'
(R):5'- GGTTACGGAGACATCTACCCTAAG -3'
Posted On 2013-04-16