Incidental Mutation 'IGL02449:Kcnab2'
ID 294102
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 # IGL02449
Quality Score
Status
Chromosome 4
Chromosomal Location 152475201-152562006 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to A at 152496441 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 null
Transcript: ENSMUST00000030768
SMART Domains Protein: ENSMUSP00000030768
Gene: ENSMUSG00000028931

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

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

DomainStartEndE-ValueType
Pfam:Aldo_ket_red 51 134 4.9e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162200
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162165
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161416
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161844
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,440,908 (GRCm39) probably null Het
Akap6 A G 12: 53,186,971 (GRCm39) T1462A probably damaging Het
Arl6ip6 T C 2: 53,082,538 (GRCm39) probably benign Het
Ascc3 A T 10: 50,576,695 (GRCm39) Q883H probably benign Het
Atp11a T A 8: 12,807,358 (GRCm39) probably null Het
Cds1 G A 5: 101,963,794 (GRCm39) G371D probably damaging Het
Col12a1 A G 9: 79,548,751 (GRCm39) L2198P probably damaging Het
Cyp2d22 C T 15: 82,257,442 (GRCm39) G241D probably benign Het
Dapk1 T C 13: 60,867,584 (GRCm39) probably benign Het
Dera T A 6: 137,757,815 (GRCm39) probably null Het
Efcab6 A G 15: 83,894,234 (GRCm39) V186A probably benign Het
Gm9637 T A 14: 19,402,436 (GRCm38) noncoding transcript Het
Gpr180 T C 14: 118,397,532 (GRCm39) L342P probably damaging Het
Heg1 T C 16: 33,559,095 (GRCm39) probably null Het
Lax1 A G 1: 133,607,874 (GRCm39) V289A probably damaging Het
Ly6k T G 15: 74,668,934 (GRCm39) D115A probably benign Het
Mcc A C 18: 44,593,025 (GRCm39) I670S probably benign Het
Mpdz C A 4: 81,247,659 (GRCm39) probably null Het
Mrgprb8 T A 7: 48,038,431 (GRCm39) L34* probably null Het
Mtor T A 4: 148,618,378 (GRCm39) H1730Q possibly damaging Het
Muc4 C T 16: 32,576,503 (GRCm39) probably benign Het
Myh8 T C 11: 67,185,440 (GRCm39) probably null Het
Naip5 A T 13: 100,358,683 (GRCm39) V851E probably benign Het
Neb T C 2: 52,091,918 (GRCm39) I1277V probably benign Het
Nlrp9a T C 7: 26,264,396 (GRCm39) M683T probably benign Het
Npr2 A G 4: 43,646,641 (GRCm39) Y663C probably damaging Het
Padi3 C T 4: 140,517,023 (GRCm39) probably null Het
Pclo A G 5: 14,565,357 (GRCm39) D41G probably damaging Het
Pds5a A T 5: 65,776,353 (GRCm39) N80K probably damaging Het
Plec C T 15: 76,070,963 (GRCm39) D812N possibly damaging Het
Psg20 A T 7: 18,418,333 (GRCm39) probably benign Het
Ptch2 C A 4: 116,965,380 (GRCm39) L322I possibly damaging Het
Ptprv T C 1: 135,039,074 (GRCm39) noncoding transcript Het
Scn2b A G 9: 45,036,812 (GRCm39) K107E probably damaging Het
Slc24a4 A C 12: 102,193,341 (GRCm39) I226L probably benign Het
Spink4 A G 4: 40,929,190 (GRCm39) M72V probably benign Het
Supt16 A T 14: 52,411,263 (GRCm39) M676K possibly damaging Het
Svep1 A C 4: 58,070,296 (GRCm39) C2497G possibly damaging Het
Tenm2 T A 11: 35,914,449 (GRCm39) T2362S probably damaging Het
Tgm3 G T 2: 129,880,529 (GRCm39) probably null Het
Trpa1 T A 1: 14,968,381 (GRCm39) T462S probably damaging Het
Ucp2 G A 7: 100,148,017 (GRCm39) V237M probably damaging Het
Vmn2r53 C A 7: 12,316,288 (GRCm39) L510F probably damaging Het
Zan G A 5: 137,387,589 (GRCm39) T4874M unknown Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Zfp974 T A 7: 27,611,152 (GRCm39) Y191F 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
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