Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4131001:Kcnb2'

523154

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4131001 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15287254-15723750 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 15312976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 175 (K175N)

Ref Sequence

ENSEMBL: ENSMUSP00000135382 (fasta)

Gene Model

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

AlphaFold

A6H8H5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170146
AA Change: K175N

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000175681
AA Change: K175N

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135382
Gene: ENSMUSG00000092083
AA Change: K175N

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (126/137)

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: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	C	T	2: 173,719,806		probably benign	Het
A530032D15Rik	G	A	1: 85,099,620	A75V	probably benign	Het
Alpk2	G	A	18: 65,306,379	H648Y	possibly damaging	Het
Ambp	A	G	4: 63,144,265	Y246H	probably damaging	Het
Amz1	T	C	5: 140,749,333		probably null	Het
Anks6	G	A	4: 47,027,109	T703I	probably damaging	Het
Armc2	A	G	10: 41,947,887		probably benign	Het
Atp7b	T	A	8: 21,994,656	I1347F	probably damaging	Het
Atp8a1	C	T	5: 67,622,602	W1149*	probably null	Het
Auh	A	G	13: 52,841,010	I173T	probably damaging	Het
AW822073	A	G	10: 58,223,454	C493R	probably benign	Het
AW822073	G	A	10: 58,224,314		probably benign	Het
AW822073	C	T	10: 58,224,882	E17K	possibly damaging	Het
Axin2	T	C	11: 108,924,003	L239P	possibly damaging	Het
Bbs1	A	T	19: 4,899,259	F257L	possibly damaging	Het
C130026I21Rik	A	C	1: 85,245,674		probably benign	Het
Cacna2d2	C	T	9: 107,524,668	P774L	probably damaging	Het
Card6	A	G	15: 5,108,306	L22P	probably damaging	Het
Ccdc171	C	T	4: 83,661,709			Het
Cdc14a	T	A	3: 116,328,661	N219I	possibly damaging	Het
Cfap65	G	T	1: 74,928,342	N192K	probably benign	Het
Col14a1	T	C	15: 55,448,876		probably benign	Het
Col5a1	A	G	2: 28,024,653	T94A	probably benign	Het
Col6a5	T	C	9: 105,881,914	N2031S	probably damaging	Het
Col7a1	T	C	9: 108,965,921		probably benign	Het
Ctgf	T	C	10: 24,596,090	V70A	probably damaging	Het
Cyld	T	C	8: 88,746,915	S739P	probably damaging	Het
Dbr1	A	G	9: 99,584,019		probably null	Het
Dip2b	T	C	15: 100,202,352	L1267P	probably damaging	Het
Dolk	A	G	2: 30,285,574	M153T	probably benign	Het
Duxf3	A	C	10: 58,231,676	S27A	probably benign	Het
Eef1d	C	T	15: 75,903,732	R26H	probably benign	Homo
Efcab5	C	T	11: 77,137,691			Het
Epc1	T	C	18: 6,449,246	D467G	probably damaging	Het
Fancm	T	G	12: 65,105,422	M884R	probably benign	Het
Fbxo24	G	T	5: 137,621,902	H15N	probably damaging	Het
Frem1	A	G	4: 83,005,808	F305L	probably damaging	Het
Fstl5	A	G	3: 76,659,699	D550G	probably damaging	Het
Gcnt3	T	G	9: 70,034,044	K414T	possibly damaging	Het
Gm10471	A	T	5: 26,086,487	F107Y	probably benign	Het
Gm10471	C	G	5: 26,089,095	W28C	probably damaging	Het
Gm10718	A	T	9: 3,024,417	T134S	probably benign	Het
Gm10722	A	G,C	9: 3,001,414		probably benign	Het
Gm10800	A	C	2: 98,666,548	F220C	probably benign	Het
Gm10800	T	C	2: 98,666,818	R152G	probably benign	Homo
Gm10800	C	A	2: 98,666,905	V123F	probably benign	Homo
Gm10801	A	G	2: 98,662,303	R23G	probably benign	Homo
Gm11168	C	T	9: 3,004,605	P49S	probably benign	Het
Gm21677	T	C	Y: 3,297,411	H235R	probably benign	Het
Gm21693	C	T	Y: 3,328,944	A241T	possibly damaging	Het
Gm21738	G	A	14: 19,417,330	S66L	probably benign	Het
Gm4064	T	A	Y: 2,787,132	N228Y	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,266,278		probably benign	Het
Hmgcr	A	G	13: 96,659,054	Y336H	probably damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Homo
Hoxa13	G	C	6: 52,260,648		probably benign	Homo
Igf2bp3	A	C	6: 49,117,150		probably null	Het
Kdr	T	C	5: 75,941,971		probably benign	Het
Kif5c	A	G	2: 49,694,032	K160E	probably damaging	Het
Kif7	A	T	7: 79,711,069	V186E	probably damaging	Het
Krt16	T	A	11: 100,248,749	T48S	unknown	Het
Liph	T	C	16: 21,995,369	M1V	probably null	Het
Mctp2	A	G	7: 72,090,257	F795S	probably damaging	Het
Muc4	C	G	16: 32,755,676		probably benign	Homo
Muc4	T	A	16: 32,755,684		probably benign	Homo
Muc4	T	A	16: 32,755,699		probably benign	Homo
Myo15	G	T	11: 60,483,127	A1267S	probably damaging	Het
Myo15	T	C	11: 60,495,454	Y1802H	probably damaging	Het
Myo7b	G	A	18: 31,961,206	T1963I	probably benign	Het
Nadk2	TG	T	15: 9,100,143		probably null	Homo
Naip5	T	C	13: 100,219,739	R1123G	probably benign	Het
Naip5	T	C	13: 100,219,760	N1116D	probably benign	Het
Nap1l1	A	G	10: 111,486,722	D61G	probably null	Het
Napsa	A	T	7: 44,581,451	T81S	probably damaging	Het
Ngp	T	C	9: 110,422,269		probably benign	Het
Nktr	T	A	9: 121,741,621	V143E	probably damaging	Het
Obscn	A	G	11: 59,067,064		probably null	Het
Olfr1115	G	A	2: 87,252,629	A231T	probably benign	Het
Olfr1305	G	A	2: 111,873,304	L184F	probably benign	Het
Olfr266	T	C	3: 106,821,966	I198V	probably benign	Het
Olfr414	A	G	1: 174,430,824	Y132C	probably damaging	Het
Olfr597	C	T	7: 103,320,869	R153*	probably null	Het
Olfr653	G	A	7: 104,580,030	R128Q	probably damaging	Het
Paip2b	A	G	6: 83,808,841	Y136H	probably damaging	Het
Pde2a	G	T	7: 101,511,154	R845L	probably damaging	Het
Pgap2	A	G	7: 102,237,198	Y197C	possibly damaging	Het
Phf11b	A	G	14: 59,323,162		probably benign	Het
Pitpnm2	A	T	5: 124,131,115	D481E	probably benign	Het
Pxk	A	T	14: 8,152,130	H482L	probably benign	Het
Rad50	A	G	11: 53,694,899		probably null	Het
Rnf220	A	G	4: 117,277,369		probably null	Het
Selenbp1	C	T	3: 94,937,296	T88M	probably damaging	Het
Sft2d1	T	C	17: 8,391,031	I104T	possibly damaging	Het
Sik1	A	G	17: 31,851,331	S135P	probably damaging	Het
Slc16a3	T	C	11: 120,955,346	F34L	probably damaging	Het
Slc6a20b	T	C	9: 123,612,126	N85S	probably benign	Homo
Snrnp27	T	C	6: 86,682,911	R34G	unknown	Het
Sos2	T	C	12: 69,618,077	H393R	probably benign	Het
Sp110	C	T	1: 85,586,250	R262Q	probably benign	Het
Sp110	T	C	1: 85,586,254	R261G	probably benign	Het
Sp140	T	A	1: 85,601,172	Y5N	probably benign	Het
Sp140	G	C	1: 85,610,882	K113N	probably benign	Het
Sp140	A	G	1: 85,643,221	S461G	probably benign	Het
Ssrp1	G	A	2: 85,038,416	V40M	probably damaging	Het
Tada2a	T	C	11: 84,079,737	E202G	probably damaging	Het
Tcf20	C	A	15: 82,851,584	A1889S	probably damaging	Het
Tdrd12	A	T	7: 35,481,103	Y828*	probably null	Het
Tex45	T	A	8: 3,476,062	S72T	possibly damaging	Het
Tlr2	T	A	3: 83,838,449	D109V	probably benign	Het
Tomm40	G	A	7: 19,703,091	T17M	probably damaging	Het
Tsga10ip	T	C	19: 5,390,133	T135A	possibly damaging	Het
Tspan8	G	A	10: 115,817,610	V4M	probably damaging	Het
Ttc28	A	T	5: 110,892,853	T36S	probably benign	Het
Ugt1a6b	TTCA	T	1: 88,216,158		probably benign	Het
Ugt1a6b	G	A	1: 88,216,254	A199T	probably damaging	Het
Ugt1a6b	G	A	1: 88,218,390	R519Q	probably damaging	Het
Unc45a	A	G	7: 80,326,361	M790T	possibly damaging	Het
Vav3	T	C	3: 109,664,435		probably null	Het
Vcpkmt	G	A	12: 69,582,778	S70L	probably benign	Het
Vmn1r3	C	T	4: 3,184,691	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774	V178I	probably benign	Het
Vmn2r66	T	C	7: 84,995,093	Q703R	probably damaging	Het
Vmn2r98	G	T	17: 19,080,961	V742F	probably benign	Het
Wfdc8	A	G	2: 164,597,776	S229P	possibly damaging	Het
Xpo4	A	T	14: 57,584,611	C1083S	probably null	Het
Zbtb38	T	C	9: 96,686,316	D905G	probably damaging	Het
Zbtb8b	A	G	4: 129,427,515	*518Q	probably null	Het
Zfp600	TC	T	4: 146,195,232		probably null	Het
Zfp992	C	T	4: 146,466,112	P97S	probably benign	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
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
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'- ATTCTAAACTTCTACCGGACGGG -3'
(R):5'- ACATTACCTGTGAGGCCATG -3'

Sequencing Primer
(F):5'- AGGAAATGTGTGCGCTCTC -3'
(R):5'- CATGGTTTGTTCTGTTTTACCAAAGC -3'

Posted On

2018-06-12