Mutagenetix > Incidental Mutation

Incidental Mutation 'R7425:Kcnb2'

575960

Institutional Source

Beutler Lab

Gene Symbol

Kcnb2

Ensembl Gene

ENSMUSG00000092083

Gene Name

potassium voltage gated channel, Shab-related subfamily, member 2

Synonyms

9630047L19Rik, Kv2.2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7425 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 15709807 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 301 (Q301P)

Ref Sequence

ENSEMBL: ENSMUSP00000126656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170146] [ENSMUST00000175681]

AlphaFold

A6H8H5

Predicted Effect

probably damaging
Transcript: ENSMUST00000170146
AA Change: Q301P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000175681
AA Change: Q301P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: Q301P

Domain	Start	End	E-Value	Type
BTB	35	144	2.59e-14	SMART
low complexity region	150	166	N/A	INTRINSIC
Pfam:Ion_trans	192	428	1.7e-51	PFAM
Pfam:Ion_trans_2	336	422	2.5e-13	PFAM
Pfam:Kv2channel	471	755	7.7e-149	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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, shab-related subfamily. This member is a delayed rectifier potassium channel. The gene is expressed in gastrointestinal smooth muscle cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit neurological abnormalities when compared with controls, including an abnormal sleep/wake cycle, decreased exploratory and locomotor activity, and a motor strength deficit. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,065,695	E215G	probably benign	Het
4932438A13Rik	T	A	3: 36,948,341	H1478Q	probably benign	Het
4932438A13Rik	A	T	3: 36,983,394	H2448L	probably benign	Het
Adam8	T	A	7: 139,992,481		probably benign	Het
Ankrd35	A	G	3: 96,684,788	S797G	not run	Het
Anxa3	T	A	5: 96,834,821	H259Q	probably benign	Het
Ap3d1	T	A	10: 80,721,592	Q302L	probably damaging	Het
Atg2a	T	C	19: 6,255,652	V1294A	probably benign	Het
Atp13a5	G	A	16: 29,297,460	Q613*	probably null	Het
Bmpr2	T	G	1: 59,867,351	N534K	probably benign	Het
C1qbp	T	C	11: 70,978,246		probably null	Het
C1qbp	G	T	11: 70,978,247		probably null	Het
C1ql3	T	G	2: 13,010,418	K144Q	possibly damaging	Het
C3	T	C	17: 57,204,039	M1656V	possibly damaging	Het
Cand1	A	T	10: 119,216,243	Y252N	probably benign	Het
Capn13	T	C	17: 73,318,058	I632M	probably benign	Het
Catsperb	A	G	12: 101,591,498	E776G	probably damaging	Het
Ccnl1	A	T	3: 65,948,758	V242D	probably damaging	Het
Cd68	T	C	11: 69,665,112	D200G	probably benign	Het
Cela3a	T	C	4: 137,405,588	N118D	probably benign	Het
Celsr2	A	G	3: 108,402,457	C1609R	probably damaging	Het
Cep85l	G	C	10: 53,301,570	Q458E	probably damaging	Het
Cnga1	T	G	5: 72,609,525	E190D	probably benign	Het
Cntnap3	G	A	13: 64,758,252	R847C	probably damaging	Het
Cntrob	G	A	11: 69,314,734	Q425*	probably null	Het
Commd9	G	A	2: 101,899,900	W128*	probably null	Het
Csnk1a1	C	T	18: 61,585,259	S352L	unknown	Het
Dact2	A	G	17: 14,196,331	S536P	probably damaging	Het
Ddx25	A	G	9: 35,554,586	I113T	probably benign	Het
Dscam	T	A	16: 96,629,398	D1630V	probably damaging	Het
Fndc7	A	C	3: 108,876,659	F211L	probably benign	Het
Fryl	T	C	5: 73,104,748	T559A	probably damaging	Het
Hpx	C	A	7: 105,591,861	D402Y	probably damaging	Het
Ints13	A	G	6: 146,574,700		probably null	Het
Ipcef1	T	C	10: 6,956,066	K76E	probably damaging	Het
Lamp3	C	T	16: 19,699,612		probably null	Het
Lmod2	A	T	6: 24,603,476	H150L	probably benign	Het
Lrch3	T	C	16: 33,005,707	F718S	probably damaging	Het
Mms22l	T	C	4: 24,596,287	V1082A	probably benign	Het
Nbas	G	T	12: 13,469,880	V1598L	probably damaging	Het
Nrxn3	C	T	12: 89,513,100	R671*	probably null	Het
Olfr1215	A	T	2: 89,002,200	F29L		Het
Olfr1441	A	C	19: 12,422,840	H177P	probably damaging	Het
Olfr214	A	T	6: 116,556,437	E4V	possibly damaging	Het
Olfr48	A	G	2: 89,844,445	L176P	probably damaging	Het
Olfr671	A	T	7: 104,975,061	L312*	probably null	Het
Pcdhga6	T	A	18: 37,708,566	N446K	probably damaging	Het
Phlpp1	A	T	1: 106,392,573	I1433F	probably benign	Het
Pla2g6	G	A	15: 79,308,733	R245C	probably damaging	Het
Rgl3	G	A	9: 21,976,827	Q464*	probably null	Het
Ryr2	T	C	13: 11,705,644	D2706G	probably benign	Het
Sbf2	G	A	7: 110,375,777	Q718*	probably null	Het
Sdad1	T	C	5: 92,300,121	T252A	probably benign	Het
Sgk1	T	C	10: 21,994,110	L16P	probably damaging	Het
Slc38a8	A	G	8: 119,485,588	S339P	possibly damaging	Het
Slc44a4	T	C	17: 34,921,691	S287P	possibly damaging	Het
Syne1	T	C	10: 5,425,760	I111V	probably damaging	Het
Synm	A	C	7: 67,733,446	S1489R	probably damaging	Het
Tfb2m	A	G	1: 179,537,704	F232L	probably benign	Het
Traf3	A	T	12: 111,260,661	K328*	probably null	Het
Trim38	C	A	13: 23,788,382	Q229K	probably benign	Het
Vcan	A	G	13: 89,689,832	I2531T	probably damaging	Het
Virma	T	A	4: 11,546,211	I1683N	possibly damaging	Het
Vmn1r18	A	T	6: 57,390,566	M1K	probably null	Het
Vmn2r87	T	C	10: 130,478,892	N275S	probably damaging	Het
Vps13a	T	A	19: 16,723,702	H701L	probably benign	Het
Vrk3	T	A	7: 44,770,924		probably null	Het
Zfp993	T	A	4: 146,657,641	S141T	possibly damaging	Het

Other mutations in Kcnb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00425:Kcnb2	APN	1	15711012	missense	probably benign	0.02
IGL01321:Kcnb2	APN	1	15312923	missense	probably benign	0.09
IGL01353:Kcnb2	APN	1	15710824	missense	probably benign	0.02
IGL01990:Kcnb2	APN	1	15312954	missense	probably benign	0.19
IGL02008:Kcnb2	APN	1	15710809	missense	probably benign	0.00
IGL02120:Kcnb2	APN	1	15709861	missense	probably damaging	0.98
IGL02370:Kcnb2	APN	1	15710935	missense	probably benign
IGL02526:Kcnb2	APN	1	15710755	missense	probably damaging	1.00
IGL02859:Kcnb2	APN	1	15710506	missense	probably damaging	1.00
IGL03039:Kcnb2	APN	1	15711211	missense	probably benign
IGL03144:Kcnb2	APN	1	15709888	missense	probably damaging	1.00
F5770:Kcnb2	UTSW	1	15710091	missense	probably benign	0.07
PIT4131001:Kcnb2	UTSW	1	15312976	missense	possibly damaging	0.92
R0266:Kcnb2	UTSW	1	15712913	unclassified	probably benign
R0538:Kcnb2	UTSW	1	15712884	unclassified	probably benign
R0611:Kcnb2	UTSW	1	15710440	missense	probably benign	0.07
R1542:Kcnb2	UTSW	1	15710788	missense	probably benign	0.01
R1732:Kcnb2	UTSW	1	15709755	missense	probably benign	0.02
R1995:Kcnb2	UTSW	1	15709766	missense	possibly damaging	0.66
R2166:Kcnb2	UTSW	1	15711316	missense	possibly damaging	0.82
R2444:Kcnb2	UTSW	1	15709567	missense	probably benign
R3025:Kcnb2	UTSW	1	15710835	missense	possibly damaging	0.87
R3886:Kcnb2	UTSW	1	15710415	missense	probably damaging	1.00
R5010:Kcnb2	UTSW	1	15312962	missense	probably benign	0.09
R5039:Kcnb2	UTSW	1	15709500	missense	probably damaging	1.00
R5096:Kcnb2	UTSW	1	15710844	missense	probably benign	0.45
R5444:Kcnb2	UTSW	1	15711492	missense	probably benign
R5926:Kcnb2	UTSW	1	15313011	missense	probably benign	0.01
R6010:Kcnb2	UTSW	1	15710566	missense	possibly damaging	0.85
R6371:Kcnb2	UTSW	1	15711212	missense	probably benign
R6724:Kcnb2	UTSW	1	15710440	missense	probably damaging	1.00
R6981:Kcnb2	UTSW	1	15710256	missense	probably damaging	1.00
R7043:Kcnb2	UTSW	1	15312926	missense	probably benign
R7352:Kcnb2	UTSW	1	15710611	missense	probably benign
R7419:Kcnb2	UTSW	1	15711027	missense	possibly damaging	0.94
R7606:Kcnb2	UTSW	1	15312840	missense	probably damaging	1.00
R7978:Kcnb2	UTSW	1	15710613	missense	probably benign	0.15
R7983:Kcnb2	UTSW	1	15312780	missense	probably damaging	0.98
R8115:Kcnb2	UTSW	1	15711627	makesense	probably null
R8156:Kcnb2	UTSW	1	15710056	missense	probably damaging	1.00
R8408:Kcnb2	UTSW	1	15711553	missense	probably damaging	1.00
R8439:Kcnb2	UTSW	1	15312710	missense	probably damaging	1.00
R8726:Kcnb2	UTSW	1	15710652	missense	probably benign	0.00
R8738:Kcnb2	UTSW	1	15710424	missense	probably benign	0.07
R9274:Kcnb2	UTSW	1	15711499	missense	probably benign
R9321:Kcnb2	UTSW	1	15709569	missense	possibly damaging	0.46
R9563:Kcnb2	UTSW	1	15709513	missense	probably damaging	1.00
R9633:Kcnb2	UTSW	1	15711220	missense	probably benign
R9709:Kcnb2	UTSW	1	15710299	missense	probably benign	0.31
V7580:Kcnb2	UTSW	1	15710091	missense	probably benign	0.07
V7581:Kcnb2	UTSW	1	15710091	missense	probably benign	0.07
V7582:Kcnb2	UTSW	1	15710091	missense	probably benign	0.07
V7583:Kcnb2	UTSW	1	15710091	missense	probably benign	0.07
Z1088:Kcnb2	UTSW	1	15710091	missense	probably benign	0.03
Z1088:Kcnb2	UTSW	1	15711028	missense	probably benign	0.01
Z1177:Kcnb2	UTSW	1	15710958	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTGCCTGGTTTACCATGGAGTATC -3'
(R):5'- CCCACCAAAATGATGCAGGG -3'

Sequencing Primer
(F):5'- ACCATGGAGTATCTTTTACGATTCC -3'
(R):5'- CTGGTGAATTTGGTAGCATCTTCATC -3'

Posted On

2019-10-07