Mutagenetix > Incidental Mutation

Incidental Mutation 'R5996:Kcnab2'

482128

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

044175-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5996 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

152475201-152562006 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 152519287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030768] [ENSMUST00000105648] [ENSMUST00000159186] [ENSMUST00000159186] [ENSMUST00000159840] [ENSMUST00000160884] [ENSMUST00000161236] [ENSMUST00000161236] [ENSMUST00000162017] [ENSMUST00000162017]

AlphaFold

P62482

Predicted Effect

probably benign
Transcript: ENSMUST00000030768

SMART Domains

Protein: ENSMUSP00000030768
Gene: ENSMUSG00000028931

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	37	342	1.6e-76	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000105648

SMART Domains

Protein: ENSMUSP00000101273
Gene: ENSMUSG00000028931

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	51	356	7e-77	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000159186

SMART Domains

Protein: ENSMUSP00000124588
Gene: ENSMUSG00000028931

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	51	371	4.3e-74	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000159186

SMART Domains

Protein: ENSMUSP00000124588
Gene: ENSMUSG00000028931

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	51	371	4.3e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159435

Predicted Effect

probably benign
Transcript: ENSMUST00000159840

SMART Domains

Protein: ENSMUSP00000124156
Gene: ENSMUSG00000028931

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	37	342	1.6e-76	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000160884

SMART Domains

Protein: ENSMUSP00000125058
Gene: ENSMUSG00000028931

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	51	356	7e-77	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000161236

SMART Domains

Protein: ENSMUSP00000125270
Gene: ENSMUSG00000028931

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	51	134	4.9e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000161236

SMART Domains

Protein: ENSMUSP00000125270
Gene: ENSMUSG00000028931

Domain	Start	End	E-Value	Type
Pfam:Aldo_ket_red	51	134	4.9e-21	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000162017

Predicted Effect

probably null
Transcript: ENSMUST00000162017

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162200

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161496

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

Validation Efficiency

97% (69/71)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,468,928 (GRCm39)	M1T	probably null	Het
A2m	T	A	6: 121,636,353 (GRCm39)	W741R	probably damaging	Het
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Acan	A	G	7: 78,761,068 (GRCm39)	T1927A	probably damaging	Het
Agbl4	A	G	4: 110,812,869 (GRCm39)		probably null	Het
Bltp1	T	C	3: 36,985,265 (GRCm39)	F865S	probably benign	Het
Ccr8	T	A	9: 119,923,529 (GRCm39)	C215S	probably damaging	Het
Cd209b	T	C	8: 3,968,688 (GRCm39)	T314A	probably benign	Het
Cd244a	T	G	1: 171,409,208 (GRCm39)		probably null	Het
Cdh23	T	C	10: 60,249,356 (GRCm39)	E849G	possibly damaging	Het
Cep57	A	G	9: 13,721,175 (GRCm39)	V268A	probably damaging	Het
Clip4	T	C	17: 72,163,305 (GRCm39)	S626P	probably damaging	Het
Col19a1	C	T	1: 24,367,152 (GRCm39)	G477R	probably damaging	Het
Col4a4	T	C	1: 82,433,449 (GRCm39)	D1498G	unknown	Het
Coro6	T	C	11: 77,357,322 (GRCm39)	V177A	probably benign	Het
Crip3	T	C	17: 46,742,210 (GRCm39)	S202P	possibly damaging	Het
Cxcr2	T	C	1: 74,197,619 (GRCm39)	C38R	probably damaging	Het
Cyp4f13	C	T	17: 33,148,447 (GRCm39)	G327R	possibly damaging	Het
Dab2	C	T	15: 6,464,792 (GRCm39)	Q415*	probably null	Het
Dennd5b	A	G	6: 148,969,593 (GRCm39)	F287L	probably benign	Het
Dlg4	G	A	11: 69,908,057 (GRCm39)	R6K	probably benign	Het
Edc4	A	G	8: 106,614,033 (GRCm39)	K429E	probably damaging	Het
Fam107b	T	A	2: 3,780,667 (GRCm39)		probably null	Het
Flt4	A	T	11: 49,541,897 (GRCm39)	D1360V	probably damaging	Het
Gm1043	A	T	5: 37,317,168 (GRCm39)		probably benign	Het
Gm4894	A	T	9: 49,189,970 (GRCm39)	I82L	unknown	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gpr176	A	C	2: 118,114,385 (GRCm39)		probably null	Het
Gtse1	T	C	15: 85,748,381 (GRCm39)	L262P	probably benign	Het
Il4ra	T	C	7: 125,166,393 (GRCm39)	W46R	probably damaging	Het
Itga11	A	G	9: 62,662,955 (GRCm39)	Y557C	probably benign	Het
Kcnh7	G	A	2: 63,014,441 (GRCm39)		probably benign	Het
Ly9	T	A	1: 171,429,396 (GRCm39)	Q230L	probably damaging	Het
Map2	C	A	1: 66,454,043 (GRCm39)	H978N	possibly damaging	Het
Map2k6	A	G	11: 110,388,732 (GRCm39)	I225V	possibly damaging	Het
Map3k13	A	G	16: 21,723,995 (GRCm39)	N326D	possibly damaging	Het
Mdga2	A	G	12: 66,844,537 (GRCm39)	F85L	probably benign	Het
Mmp13	C	T	9: 7,274,269 (GRCm39)	P192L	probably damaging	Het
Mrpl37	T	C	4: 106,923,704 (GRCm39)	T97A	probably benign	Het
Mycbpap	C	T	11: 94,404,420 (GRCm39)	G121D	probably benign	Het
Nabp1	A	G	1: 51,510,544 (GRCm39)	S153P	probably benign	Het
Nsun3	A	T	16: 62,590,049 (GRCm39)	F222I	probably benign	Het
Or4q3	A	G	14: 50,582,969 (GRCm39)	V310A	possibly damaging	Het
Pcdhga4	A	T	18: 37,818,991 (GRCm39)	D180V	probably benign	Het
Pex6	C	A	17: 47,025,384 (GRCm39)		probably null	Het
Phrf1	C	A	7: 140,839,015 (GRCm39)		probably benign	Het
Ppp1r36	A	G	12: 76,485,936 (GRCm39)	T365A	possibly damaging	Het
Ranbp10	A	G	8: 106,499,672 (GRCm39)	M519T	probably benign	Het
Rfx4	G	A	10: 84,675,881 (GRCm39)	W32*	probably null	Het
Ryr1	T	C	7: 28,723,666 (GRCm39)	N4131S	probably benign	Het
Slc27a6	A	G	18: 58,745,306 (GRCm39)	E580G	possibly damaging	Het
Slc7a14	T	C	3: 31,263,385 (GRCm39)	D719G	probably benign	Het
Slfn9	A	G	11: 82,878,310 (GRCm39)	I273T	possibly damaging	Het
Spice1	A	G	16: 44,205,037 (GRCm39)	E781G	probably benign	Het
Sspo	C	T	6: 48,471,110 (GRCm39)	P4686S	possibly damaging	Het
Stab1	G	T	14: 30,861,508 (GRCm39)	R2500S	probably benign	Het
Stox2	A	T	8: 47,656,182 (GRCm39)	M98K	possibly damaging	Het
Tacc2	T	C	7: 130,225,213 (GRCm39)	S633P	probably damaging	Het
Tex51	G	T	18: 32,595,545 (GRCm39)		probably benign	Het
Tm9sf4	T	C	2: 153,037,491 (GRCm39)		probably null	Het
Togaram2	T	A	17: 72,011,778 (GRCm39)	F486I	probably damaging	Het
Trappc12	A	G	12: 28,797,113 (GRCm39)	S140P	possibly damaging	Het
Ttc29	A	T	8: 79,003,525 (GRCm39)	N247I	probably damaging	Het
Uso1	A	T	5: 92,340,589 (GRCm39)	E668D	probably benign	Het
Vmn2r69	A	T	7: 85,061,117 (GRCm39)		probably null	Het
Xirp2	T	A	2: 67,341,994 (GRCm39)	L1412I	possibly damaging	Het
Xrcc5	T	A	1: 72,349,617 (GRCm39)	D15E	probably damaging	Het
Zfp661	T	C	2: 127,418,968 (GRCm39)	K391E	probably damaging	Het
Zfp729b	A	G	13: 67,741,977 (GRCm39)	I106T	probably benign	Het
Zfyve9	A	C	4: 108,576,557 (GRCm39)	S175A	probably benign	Het

Other mutations in Kcnab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- AGACTGTACCAGCCTGCATC -3'
(R):5'- TGTACATCGGCTAGAGCTTAGTC -3'

Sequencing Primer
(F):5'- TGCTCGGGATGGGCACAG -3'
(R):5'- CTTAGTCAGCTTAGCCTGGAGC -3'

Posted On

2017-06-27