Mutagenetix > Incidental Mutation

Incidental Mutation 'R7419:Kcnb2'

575490

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 #

R7419 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15711027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 708 (S708P)

Ref Sequence

ENSEMBL: ENSMUSP00000126656 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170146
AA Change: S708P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175681
AA Change: S708P

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: S708P

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: 99.7%
20x: 98.9%

Validation Efficiency

99% (93/94)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,276,959	S572P	probably damaging	Het
Abca13	T	C	11: 9,297,833	Y2527H	probably damaging	Het
Abcc5	A	G	16: 20,422,423	I4T	possibly damaging	Het
Adamts12	C	T	15: 11,317,279	T1355I	probably benign	Het
Aloxe3	A	G	11: 69,127,527	T117A	probably benign	Het
Asb15	A	G	6: 24,556,556	I17V	probably benign	Het
Atf2	A	G	2: 73,842,433	V194A	probably benign	Het
Capn7	T	C	14: 31,349,822	V221A	probably benign	Het
Ccdc107	A	T	4: 43,493,512	S28C	probably benign	Het
Cct4	C	T	11: 22,996,420	T162I	probably benign	Het
Cdc40	A	T	10: 40,841,443	H417Q	probably damaging	Het
Celf1	A	G	2: 91,003,243	I115V	probably benign	Het
Ces3a	A	G	8: 105,056,424	Y395C	probably damaging	Het
Cfh	C	A	1: 140,105,466	C798F	probably damaging	Het
Clstn3	T	C	6: 124,458,129	T313A	probably benign	Het
Crmp1	T	A	5: 37,278,885	M329K	probably benign	Het
Csf2ra	C	T	19: 61,227,053	A76T	possibly damaging	Het
Cspg4	T	A	9: 56,888,443	V1154E	possibly damaging	Het
Cyp2a4	A	T	7: 26,314,763	N455I	probably benign	Het
Cyp4a32	T	G	4: 115,611,037	M268R	probably benign	Het
Dcaf13	T	A	15: 39,130,220	I236N	probably damaging	Het
Dennd2a	A	G	6: 39,523,463	I56T	probably damaging	Het
Eif2d	T	A	1: 131,171,056	S530R	probably benign	Het
Ep300	T	A	15: 81,648,514	M1651K	unknown	Het
Epha3	G	A	16: 63,598,294	T596I	probably damaging	Het
Fam171a2	C	T	11: 102,438,802	C377Y	possibly damaging	Het
Fat4	T	A	3: 39,000,236	N4142K	probably damaging	Het
Galnt5	C	A	2: 58,014,925	S500Y	probably damaging	Het
Gas6	A	G	8: 13,471,456	V431A	probably benign	Het
Gm21818	A	G	13: 120,173,458	E92G	probably damaging	Het
Gm7544	C	T	1: 82,955,781	C56Y	unknown	Het
Golgb1	T	A	16: 36,912,919	L884I	possibly damaging	Het
Gpatch2l	T	G	12: 86,265,251		probably null	Het
Gpr33	T	C	12: 52,023,267	T330A	probably benign	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Ifi205	A	G	1: 174,028,308	M52T	possibly damaging	Het
Ino80	A	T	2: 119,380,014	D1346E	probably benign	Het
Ino80c	T	C	18: 24,108,779	K183R	unknown	Het
Itgal	G	T	7: 127,306,875	R379L	probably benign	Het
Itih3	T	A	14: 30,914,773	T582S	probably benign	Het
Kcnt1	A	T	2: 25,915,999	Y1200F	probably benign	Het
L3mbtl4	G	A	17: 68,641,542	D473N	probably benign	Het
Lama1	T	G	17: 67,717,174	I89R		Het
Lama2	A	G	10: 27,266,634	I616T	probably benign	Het
Lipm	A	C	19: 34,116,481	D266A	probably benign	Het
Lrrc4c	A	T	2: 97,629,761	H244L	probably benign	Het
Lrrtm3	T	C	10: 64,088,146	E414G	probably damaging	Het
Ltbp4	A	G	7: 27,329,767	V231A	unknown	Het
Me3	G	T	7: 89,736,719	R92L	probably damaging	Het
Mroh7	T	G	4: 106,683,918	I1175L	probably benign	Het
Muc16	A	G	9: 18,641,962	M4345T	probably benign	Het
Mug2	A	G	6: 122,040,570	Y422C	possibly damaging	Het
N6amt1	T	G	16: 87,367,566	S214A	possibly damaging	Het
Ogfrl1	G	A	1: 23,382,982	Q24*	probably null	Het
Olfr1047	C	T	2: 86,228,213	G253R	probably damaging	Het
Olfr1150-ps1	A	T	2: 87,847,062	T264S	probably benign	Het
Olfr1274-ps	A	G	2: 90,401,459	D266G	probably damaging	Het
Olfr1306	G	A	2: 111,912,090	P280L	probably damaging	Het
Olfr1378	T	A	11: 50,969,325	Y102*	probably null	Het
Olfr701	T	C	7: 106,818,344	L87P	possibly damaging	Het
Olfr711	A	G	7: 106,972,146	M66T	probably benign	Het
Olfr731	A	C	14: 50,237,991	V298G	possibly damaging	Het
Olfr839-ps1	A	C	9: 19,175,346	M110R	possibly damaging	Het
Olfr937	T	A	9: 39,060,169	I166L	probably benign	Het
Oser1	A	T	2: 163,411,444	D48E	probably benign	Het
Piwil4	G	A	9: 14,702,395	P867L	probably damaging	Het
Pla2g6	C	T	15: 79,305,698		probably null	Het
Plxna1	A	G	6: 89,357,602	L15P	unknown	Het
Ppan	C	T	9: 20,891,844	T404I	probably benign	Het
Pros1	C	A	16: 62,928,070	Y635*	probably null	Het
Rabep2	G	A	7: 126,444,170	R414Q	probably benign	Het
Rbms3	T	A	9: 116,822,826	E201V	probably damaging	Het
Robo4	A	C	9: 37,402,809	I119L	probably benign	Het
S100b	A	T	10: 76,259,986	D66V	probably damaging	Het
Serpina1f	A	G	12: 103,689,842	S376P	probably damaging	Het
Slc24a4	T	C	12: 102,227,091		probably null	Het
Slc30a6	T	C	17: 74,423,429	V438A	probably benign	Het
Sobp	A	G	10: 43,021,808	S594P	probably benign	Het
Tmem45b	T	C	9: 31,428,038	D213G	probably benign	Het
Topbp1	T	A	9: 103,323,344	D525E	probably benign	Het
Trim30c	G	T	7: 104,388,265	L165I	probably benign	Het
Unc13b	A	T	4: 43,174,023	D1617V	unknown	Het
Ush1c	A	G	7: 46,229,255	L112P	probably damaging	Het
Vipr1	T	A	9: 121,661,473	I195N	probably damaging	Het
Vmn2r38	A	C	7: 9,075,355	V676G	probably damaging	Het
Vmn2r87	A	T	10: 130,472,123	Y749N	probably damaging	Het
Vps13d	A	T	4: 145,115,503	S2615R		Het
Whrn	A	G	4: 63,416,093	V828A	possibly damaging	Het
Zbp1	A	G	2: 173,209,165	V304A	probably benign	Het
Zeb2	A	T	2: 44,996,347	N899K	probably benign	Het
Zfp148	T	C	16: 33,497,141	S728P	possibly damaging	Het
Zfp518a	T	A	19: 40,913,763	I712N	possibly damaging	Het
Zfp683	T	C	4: 134,058,900	V446A	probably benign	Het
Zranb3	A	T	1: 127,963,851	V796D	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
R7425:Kcnb2	UTSW	1	15709807	missense	probably damaging	1.00
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'- TCCCAGGAACAGATGAGCAC -3'
(R):5'- TGACAGTGTGCCGAATCATCAG -3'

Sequencing Primer
(F):5'- GGCACCTCCATTCCTTACACTAAG -3'
(R):5'- GTGCCGAATCATCAGCCTCC -3'

Posted On

2019-10-07