Incidental Mutation 'IGL02957:Kcnab2'
ID 365169
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 # IGL02957
Quality Score
Status
Chromosome 4
Chromosomal Location 152475201-152562006 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 152520326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 5 (S5T)
Ref Sequence ENSEMBL: ENSMUSP00000124588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030768] [ENSMUST00000105648] [ENSMUST00000159186] [ENSMUST00000159840] [ENSMUST00000160884] [ENSMUST00000161236] [ENSMUST00000162017]
AlphaFold P62482
Predicted Effect probably benign
Transcript: ENSMUST00000030768
AA Change: S5T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000030768
Gene: ENSMUSG00000028931
AA Change: S5T

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 37 342 1.6e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105648
AA Change: S5T

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000101273
Gene: ENSMUSG00000028931
AA Change: S5T

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 356 7e-77 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000159186
AA Change: S5T

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124588
Gene: ENSMUSG00000028931
AA Change: S5T

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: S5T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124156
Gene: ENSMUSG00000028931
AA Change: S5T

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 37 342 1.6e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160884
AA Change: S5T

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125058
Gene: ENSMUSG00000028931
AA Change: S5T

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 356 7e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161236
AA Change: S5T

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000125270
Gene: ENSMUSG00000028931
AA Change: S5T

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 134 4.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162017
AA Change: S5T

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162200
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,509,945 (GRCm39) D262G probably damaging Het
Abtb3 T A 10: 85,469,701 (GRCm39) M405K probably damaging Het
Abtb3 C T 10: 85,467,150 (GRCm39) probably benign Het
Ahcyl1 G T 3: 107,574,958 (GRCm39) Q462K probably damaging Het
C8b A G 4: 104,623,652 (GRCm39) T20A probably benign Het
Casd1 T A 6: 4,634,068 (GRCm39) Y594N possibly damaging Het
Crtc2 C T 3: 90,169,840 (GRCm39) P412L probably damaging Het
Cyp3a44 T A 5: 145,716,472 (GRCm39) R373* probably null Het
Dnah10 A G 5: 124,840,197 (GRCm39) D1277G probably benign Het
Dnah2 A T 11: 69,339,333 (GRCm39) V3058E possibly damaging Het
Eif3l T C 15: 78,974,028 (GRCm39) L481P probably benign Het
Fbxw7 A T 3: 84,883,544 (GRCm39) T573S probably benign Het
Fcgbp C A 7: 27,791,272 (GRCm39) Y844* probably null Het
Fcrl2 C A 3: 87,169,501 (GRCm39) V13F possibly damaging Het
Gbx2 T G 1: 89,858,375 (GRCm39) S35R probably benign Het
H2-M9 A G 17: 36,953,049 (GRCm39) L86S probably benign Het
Hebp1 C T 6: 135,114,990 (GRCm39) G157D probably benign Het
Igf2bp3 C A 6: 49,064,338 (GRCm39) V560L probably benign Het
Igsf10 A G 3: 59,238,285 (GRCm39) I632T probably damaging Het
Kcnh5 T C 12: 75,054,439 (GRCm39) S502G probably benign Het
Lpcat2 T A 8: 93,602,212 (GRCm39) Y224* probably null Het
Mcrip2 A G 17: 26,087,499 (GRCm39) V24A probably damaging Het
Mttp T C 3: 137,814,842 (GRCm39) K493E possibly damaging Het
Myl7 A G 11: 5,847,137 (GRCm39) S139P possibly damaging Het
Npepps C T 11: 97,133,478 (GRCm39) R268H probably damaging Het
Oas1c C T 5: 120,943,478 (GRCm39) W18* probably null Het
Or10ak7 G T 4: 118,791,316 (GRCm39) T241N probably damaging Het
P4ha3 T C 7: 99,968,112 (GRCm39) probably benign Het
Pate14 G T 9: 36,549,146 (GRCm39) T38K probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Pkhd1l1 T A 15: 44,376,304 (GRCm39) W989R probably damaging Het
Podxl A G 6: 31,505,384 (GRCm39) probably benign Het
Pot1b T C 17: 56,007,009 (GRCm39) Y36C probably damaging Het
Ppme1 A T 7: 99,987,647 (GRCm39) I103K possibly damaging Het
Ppp1r12a T C 10: 108,034,779 (GRCm39) I108T probably damaging Het
Pramel1 A G 4: 143,124,168 (GRCm39) H281R probably benign Het
Prep T C 10: 45,002,126 (GRCm39) V427A probably benign Het
Prkce A G 17: 86,803,454 (GRCm39) D451G possibly damaging Het
Prrc2c A G 1: 162,534,104 (GRCm39) probably benign Het
Ramacl A T 13: 67,056,277 (GRCm39) probably benign Het
Rrm2 A G 12: 24,758,440 (GRCm39) N32S probably damaging Het
Sema6a A G 18: 47,382,291 (GRCm39) L752P probably damaging Het
Sik3 T A 9: 46,107,143 (GRCm39) I429N possibly damaging Het
Slc22a29 A G 19: 8,147,354 (GRCm39) L336P probably benign Het
Stk32a A T 18: 43,445,057 (GRCm39) M284L probably benign Het
Syde2 T C 3: 145,694,934 (GRCm39) probably benign Het
Tcta G A 9: 108,182,531 (GRCm39) S91F possibly damaging Het
Traf3ip2 A T 10: 39,530,406 (GRCm39) T517S probably damaging Het
Trpv3 A G 11: 73,176,698 (GRCm39) Y359C probably damaging Het
Vmn1r66 A G 7: 10,008,737 (GRCm39) S99P probably damaging Het
Vmn2r8 G A 5: 108,950,091 (GRCm39) T252M probably benign Het
Wdr27 A T 17: 15,130,372 (GRCm39) probably benign Het
Yipf1 A G 4: 107,193,347 (GRCm39) T78A probably damaging Het
Zfp735 A T 11: 73,601,755 (GRCm39) Y233F probably benign 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
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 2015-12-18