Mutagenetix > Incidental Mutation

Incidental Mutation 'R1933:Kcnab2'

215546

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

039951-MU

Accession Numbers

Essential gene?

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

Stock #

R1933 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

152475201-152562006 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 152520323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 6 (T6A)

Ref Sequence

ENSEMBL: ENSMUSP00000123939 (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: T6A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030768
Gene: ENSMUSG00000028931
AA Change: T6A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105648
AA Change: T6A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000101273
Gene: ENSMUSG00000028931
AA Change: T6A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159186
AA Change: T6A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000124588
Gene: ENSMUSG00000028931
AA Change: T6A

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
AA Change: T6A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124156
Gene: ENSMUSG00000028931
AA Change: T6A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160884
AA Change: T6A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000125058
Gene: ENSMUSG00000028931
AA Change: T6A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000161236
AA Change: T6A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000125270
Gene: ENSMUSG00000028931
AA Change: T6A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162017
AA Change: T6A

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162200

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,207,922 (GRCm39)	Y396F	probably benign	Het
Adra2a	T	A	19: 54,034,837 (GRCm39)	F64L	probably damaging	Het
Ankrd45	A	T	1: 160,978,870 (GRCm39)	N103I	probably damaging	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Bsn	A	G	9: 107,993,643 (GRCm39)	V703A	possibly damaging	Het
Btaf1	T	A	19: 36,950,357 (GRCm39)	I529K	probably damaging	Het
Ccdc110	A	G	8: 46,396,287 (GRCm39)	N726S	probably damaging	Het
Ccdc78	T	A	17: 26,006,044 (GRCm39)	S71T	probably damaging	Het
Cct5	G	T	15: 31,591,154 (GRCm39)	Q516K	probably benign	Het
Cd300c2	A	T	11: 114,891,685 (GRCm39)	V63E	probably benign	Het
Cdh16	A	G	8: 105,344,595 (GRCm39)	V7A	possibly damaging	Het
Clec16a	T	C	16: 10,506,403 (GRCm39)	F710L	probably damaging	Het
Clpb	T	G	7: 101,428,418 (GRCm39)	F393V	probably damaging	Het
Commd9	G	A	2: 101,731,376 (GRCm39)	R187H	probably damaging	Het
Crx	T	A	7: 15,602,301 (GRCm39)	K126*	probably null	Het
Dcaf13	T	A	15: 39,001,483 (GRCm39)	Y264N	probably damaging	Het
Dnah12	T	A	14: 26,455,650 (GRCm39)	I791N	probably damaging	Het
Dpy19l1	A	T	9: 24,345,683 (GRCm39)	D456E	probably damaging	Het
Dscam	A	G	16: 96,394,414 (GRCm39)	S1963P	probably benign	Het
Efl1	C	T	7: 82,412,325 (GRCm39)	Q905*	probably null	Het
Farsa	T	C	8: 85,587,780 (GRCm39)	F104L	probably benign	Het
Fbxl19	C	A	7: 127,350,101 (GRCm39)	A231E	probably benign	Het
Fbxw19	A	T	9: 109,310,718 (GRCm39)	N401K	probably benign	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,926 (GRCm39)		probably benign	Het
Frem3	A	G	8: 81,339,519 (GRCm39)	N604S	probably benign	Het
Gad1	T	G	2: 70,417,736 (GRCm39)	C312G	possibly damaging	Het
Garem2	G	T	5: 30,319,860 (GRCm39)	E441*	probably null	Het
Glra3	G	T	8: 56,393,942 (GRCm39)	A18S	probably benign	Het
Gm8206	A	T	14: 6,022,475 (GRCm38)	M8K	probably benign	Het
Gpr162	G	A	6: 124,838,410 (GRCm39)	S80F	probably damaging	Het
Grpr	C	A	X: 162,332,137 (GRCm39)	V53L	probably benign	Het
Il21	C	T	3: 37,286,635 (GRCm39)	R27H	probably benign	Het
Il21r	C	T	7: 125,228,153 (GRCm39)	T208I	possibly damaging	Het
Klra4	T	A	6: 130,042,207 (GRCm39)	Q20L	possibly damaging	Het
Lrrtm1	A	T	6: 77,221,949 (GRCm39)		probably null	Het
Lrrtm3	A	G	10: 63,924,292 (GRCm39)	F292L	possibly damaging	Het
Mpeg1	A	T	19: 12,440,011 (GRCm39)	K490*	probably null	Het
Myh14	C	T	7: 44,264,772 (GRCm39)	M1671I	probably benign	Het
Nebl	A	T	2: 17,380,103 (GRCm39)	M757K	probably damaging	Het
Or51m1	G	T	7: 103,578,337 (GRCm39)	M102I	probably damaging	Het
Or56b1b	A	C	7: 108,164,730 (GRCm39)	F91V	possibly damaging	Het
Or5aq1	T	A	2: 86,966,188 (GRCm39)	H159L	probably damaging	Het
Pkhd1l1	A	T	15: 44,404,280 (GRCm39)	H2303L	possibly damaging	Het
Podxl2	C	T	6: 88,826,587 (GRCm39)	V240M	probably benign	Het
Ppp2r5e	C	G	12: 75,516,341 (GRCm39)	A239P	probably damaging	Het
Prss53	T	C	7: 127,485,434 (GRCm39)	*553W	probably null	Het
Psma3	T	A	12: 71,031,468 (GRCm39)	M43K	probably benign	Het
Rad50	G	T	11: 53,570,888 (GRCm39)	T790K	probably benign	Het
Rasgrf1	G	T	9: 89,835,966 (GRCm39)	Q231H	probably damaging	Het
Rpn1	T	A	6: 88,070,841 (GRCm39)	V237E	probably damaging	Het
Scn10a	T	A	9: 119,439,064 (GRCm39)	M1601L	probably damaging	Het
Sema4f	G	T	6: 82,907,908 (GRCm39)	P180Q	probably damaging	Het
Serpinb5	A	G	1: 106,803,851 (GRCm39)	E8G	probably damaging	Het
Sgcg	C	T	14: 61,469,861 (GRCm39)	V167I	possibly damaging	Het
Slc25a13	C	T	6: 6,109,262 (GRCm39)	V367M	probably damaging	Het
Spata31	T	C	13: 65,068,424 (GRCm39)	S191P	probably benign	Het
Srbd1	A	G	17: 86,410,321 (GRCm39)	V537A	probably damaging	Het
Srgap1	G	T	10: 121,761,808 (GRCm39)	D113E	possibly damaging	Het
Srl	A	G	16: 4,310,214 (GRCm39)	I505T	probably damaging	Het
St14	G	A	9: 31,017,508 (GRCm39)	T226I	probably benign	Het
Stard9	T	A	2: 120,529,137 (GRCm39)	I1798N	possibly damaging	Het
Sugp1	A	G	8: 70,509,225 (GRCm39)	E166G	possibly damaging	Het
Susd1	A	T	4: 59,351,695 (GRCm39)	N455K	possibly damaging	Het
Sytl3	T	A	17: 7,000,445 (GRCm39)	V205E	probably damaging	Het
Tenm4	A	G	7: 96,544,533 (GRCm39)	Y2183C	probably damaging	Het
Tktl2	G	A	8: 66,964,999 (GRCm39)	V186M	probably damaging	Het
Tlcd3b	T	A	7: 126,426,844 (GRCm39)		probably null	Het
Tlr1	T	G	5: 65,082,781 (GRCm39)	T599P	possibly damaging	Het
Trpc6	G	A	9: 8,656,546 (GRCm39)	D658N	probably damaging	Het
Ttc39b	A	G	4: 83,150,957 (GRCm39)	V546A	possibly damaging	Het
Ube3c	T	C	5: 29,824,657 (GRCm39)	Y561H	probably damaging	Het
Vmn1r29	T	A	6: 58,284,405 (GRCm39)	S42T	probably benign	Het
Vps4a	T	C	8: 107,771,190 (GRCm39)	V392A	probably benign	Het
Wdfy4	T	C	14: 32,855,301 (GRCm39)	E771G	probably benign	Het
Whrn	G	A	4: 63,333,876 (GRCm39)	Q415*	probably null	Het
Wnt5a	C	T	14: 28,233,802 (GRCm39)	P10L	probably benign	Het
Zfhx2	T	C	14: 55,312,695 (GRCm39)		probably benign	Het
Zfp451	T	C	1: 33,816,903 (GRCm39)	K132R	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GGTAGCCTCAGATGACATTGTG -3'
(R):5'- CAGTGGAGAGATGGGATCTTCC -3'

Sequencing Primer
(F):5'- AGCCTCAGATGACATTGTGTACGTC -3'
(R):5'- ATGGGATCTTCCTCAGTGGCC -3'

Posted On

2014-07-14