Mutagenetix > Incidental Mutation

Incidental Mutation 'R7396:Camk2b'

573837

Institutional Source

Beutler Lab

Gene Symbol

Camk2b

Ensembl Gene

ENSMUSG00000057897

Gene Name

calcium/calmodulin-dependent protein kinase II, beta

Synonyms

CaMK II

MMRRC Submission

045478-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R7396 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5919644-6016362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 5928432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 436 (S436A)

Ref Sequence

ENSEMBL: ENSMUSP00000019133 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002817] [ENSMUST00000019133] [ENSMUST00000066431] [ENSMUST00000090443] [ENSMUST00000093355] [ENSMUST00000101585] [ENSMUST00000101586] [ENSMUST00000109812] [ENSMUST00000109813] [ENSMUST00000109815]

AlphaFold

P28652

Predicted Effect

probably benign
Transcript: ENSMUST00000002817

SMART Domains

Protein: ENSMUSP00000002817
Gene: ENSMUSG00000057897

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
Pfam:CaMKII_AD	371	498	5.3e-63	PFAM
Pfam:DUF4440	375	489	2.8e-15	PFAM
Pfam:SnoaL_3	375	500	2.2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000019133
AA Change: S436A

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

SMART Domains

Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: S436A

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
low complexity region	320	336	N/A	INTRINSIC
low complexity region	436	451	N/A	INTRINSIC
low complexity region	468	491	N/A	INTRINSIC
low complexity region	511	533	N/A	INTRINSIC
Pfam:CaMKII_AD	534	661	3.7e-62	PFAM
Pfam:DUF4440	538	652	1.6e-13	PFAM
Pfam:SnoaL_3	538	663	4.7e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000066431

SMART Domains

Protein: ENSMUSP00000065101
Gene: ENSMUSG00000057897

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
Pfam:CaMKII_AD	347	474	4.8e-63	PFAM
Pfam:DUF4440	351	465	2.6e-15	PFAM
Pfam:SnoaL_3	351	476	2e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090443

SMART Domains

Protein: ENSMUSP00000087925
Gene: ENSMUSG00000057897

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
low complexity region	390	412	N/A	INTRINSIC
Pfam:CaMKII_AD	413	540	6.1e-63	PFAM
Pfam:DUF4440	417	531	3.2e-15	PFAM
Pfam:SnoaL_3	417	542	2.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093355

SMART Domains

Protein: ENSMUSP00000091046
Gene: ENSMUSG00000057897

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
internal_repeat_1	373	388	8.07e-7	PROSPERO
low complexity region	391	414	N/A	INTRINSIC
internal_repeat_1	416	431	8.07e-7	PROSPERO
low complexity region	434	456	N/A	INTRINSIC
Pfam:CaMKII_AD	457	584	5.8e-63	PFAM
Pfam:DUF4440	461	575	6.7e-15	PFAM
Pfam:SnoaL_3	461	586	4.8e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101585

SMART Domains

Protein: ENSMUSP00000099119
Gene: ENSMUSG00000057897

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
low complexity region	320	336	N/A	INTRINSIC
Pfam:CaMKII_AD	386	513	5.6e-63	PFAM
Pfam:DUF4440	390	504	3e-15	PFAM
Pfam:SnoaL_3	390	515	2.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000101586

SMART Domains

Protein: ENSMUSP00000099120
Gene: ENSMUSG00000057897

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
Pfam:CaMKII_AD	386	513	5.6e-63	PFAM
Pfam:DUF4440	390	504	3e-15	PFAM
Pfam:SnoaL_3	390	515	2.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109812

SMART Domains

Protein: ENSMUSP00000105437
Gene: ENSMUSG00000057897

Domain	Start	End	E-Value	Type
S_TKc	14	283	5.98e-95	SMART
Pfam:CaMKII_AD	397	524	5.8e-63	PFAM
Pfam:DUF4440	401	515	3.1e-15	PFAM
Pfam:SnoaL_3	401	526	2.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109813

SMART Domains

Protein: ENSMUSP00000105438
Gene: ENSMUSG00000057897

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
low complexity region	320	336	N/A	INTRINSIC
Pfam:CaMKII_AD	410	537	1.4e-62	PFAM
Pfam:DUF4440	414	528	5.9e-15	PFAM
Pfam:SnoaL_3	414	539	5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109815

SMART Domains

Protein: ENSMUSP00000105440
Gene: ENSMUSG00000057897

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.37e-103	SMART
low complexity region	320	336	N/A	INTRINSIC
Pfam:CaMKII_AD	410	537	1.4e-62	PFAM
Pfam:DUF4440	414	528	5.9e-15	PFAM
Pfam:SnoaL_3	414	539	5e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the serine/threonine protein kinase family and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. In mammalian cells, the enzyme is composed of four different chains: alpha, beta, gamma, and delta. The product of this gene is a beta chain. It is possible that distinct isoforms of this chain have different cellular localizations and interact differently with calmodulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a null allele exhibit reversal of plasticity direction at parallel fiber-Purkinje cell synapses. Mice homozygous for a different null allele show motor impairments, including ataxia, altered body mass composition, a reduction in anxiety-related behavior, and cognitive deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830403N18Rik	G	T	X: 55,184,140 (GRCm39)		probably null	Het
Abcb5	A	G	12: 118,831,609 (GRCm39)	Y1248H	probably damaging	Het
Acacb	A	G	5: 114,351,722 (GRCm39)	D1153G	possibly damaging	Het
Acsm3	T	A	7: 119,373,052 (GRCm39)	L185H	probably damaging	Het
Actr1a	G	A	19: 46,368,068 (GRCm39)	T293I	probably benign	Het
Adig	T	C	2: 158,347,836 (GRCm39)	L50P	unknown	Het
Ankrd28	A	G	14: 31,424,159 (GRCm39)	S994P	probably benign	Het
Ankrd35	T	A	3: 96,590,813 (GRCm39)	D366E	probably damaging	Het
Aqr	A	T	2: 113,950,427 (GRCm39)	Y927*	probably null	Het
Asxl2	T	A	12: 3,492,529 (GRCm39)	I38N	probably damaging	Het
Atp9b	T	C	18: 80,780,057 (GRCm39)	I1092V		Het
B4galnt1	A	G	10: 127,007,485 (GRCm39)	E462G	possibly damaging	Het
BC048671	T	A	6: 90,280,273 (GRCm39)	V63E	probably damaging	Het
Bod1l	A	G	5: 41,988,889 (GRCm39)	V406A	probably damaging	Het
Btn1a1	T	G	13: 23,645,668 (GRCm39)	I234L	probably benign	Het
Cc2d1a	A	T	8: 84,870,374 (GRCm39)		probably null	Het
Ces1b	G	T	8: 93,789,757 (GRCm39)	N390K	probably benign	Het
Chpf	T	C	1: 75,451,927 (GRCm39)	Q671R	probably benign	Het
Cspg4b	T	A	13: 113,455,524 (GRCm39)	S523R		Het
Dbr1	C	A	9: 99,465,443 (GRCm39)	N340K	probably damaging	Het
Dram1	T	A	10: 88,176,507 (GRCm39)	T73S	probably benign	Het
Efemp1	A	T	11: 28,817,501 (GRCm39)	R39S	possibly damaging	Het
Eif2b5	T	G	16: 20,324,887 (GRCm39)	I515S	possibly damaging	Het
Eif2d	A	T	1: 131,094,111 (GRCm39)	N434I	probably benign	Het
Ercc6	C	T	14: 32,291,762 (GRCm39)	T1042I	probably benign	Het
Etl4	C	T	2: 20,803,449 (GRCm39)	P1057L	possibly damaging	Het
Fbxw16	T	A	9: 109,278,091 (GRCm39)	N29I	probably damaging	Het
Fbxw18	T	C	9: 109,517,954 (GRCm39)	D344G	probably benign	Het
Fgf15	G	T	7: 144,453,542 (GRCm39)	V172L	probably benign	Het
Fmod	T	C	1: 133,967,978 (GRCm39)	V6A	probably benign	Het
Furin	C	A	7: 80,047,862 (GRCm39)	R86L	probably benign	Het
Gabrr1	T	C	4: 33,160,207 (GRCm39)	V297A	probably damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Helb	T	C	10: 119,925,476 (GRCm39)	D967G	probably benign	Het
Hmcn1	T	C	1: 150,439,382 (GRCm39)	T5601A	possibly damaging	Het
Hsbp1l1	G	T	18: 80,276,634 (GRCm39)	P70Q	not run	Het
Hsd17b1	T	C	11: 100,970,033 (GRCm39)	V155A	probably damaging	Het
Ireb2	T	A	9: 54,789,617 (GRCm39)	M97K	possibly damaging	Het
Kcnj6	C	A	16: 94,563,306 (GRCm39)	L397F	probably benign	Het
Lcorl	A	T	5: 46,014,801 (GRCm39)		probably null	Het
Lgi2	A	T	5: 52,695,753 (GRCm39)	I402N	probably damaging	Het
Lrat	T	A	3: 82,810,590 (GRCm39)	R144*	probably null	Het
Mfhas1	G	T	8: 36,057,353 (GRCm39)	L609F	probably damaging	Het
Mink1	T	A	11: 70,495,994 (GRCm39)	I398K	possibly damaging	Het
Muc5ac	A	T	7: 141,362,152 (GRCm39)	D1821V	unknown	Het
Myh2	T	C	11: 67,085,554 (GRCm39)		probably null	Het
Ncor1	T	C	11: 62,234,044 (GRCm39)	E386G	probably damaging	Het
Ndufaf3	C	T	9: 108,443,802 (GRCm39)	V76M	probably damaging	Het
Neurod4	T	C	10: 130,106,891 (GRCm39)	T128A	probably damaging	Het
Ogfod1	T	A	8: 94,765,615 (GRCm39)	D59E	probably benign	Het
Or2j6	C	T	7: 139,980,476 (GRCm39)	R161H	probably benign	Het
Or2w1b	T	C	13: 21,300,477 (GRCm39)	V205A	probably benign	Het
Or52n2b	C	T	7: 104,565,558 (GRCm39)	S315N	probably benign	Het
Pcdh15	T	A	10: 74,466,522 (GRCm39)	V1513D	probably benign	Het
Pclo	C	A	5: 14,589,902 (GRCm39)	T734K	unknown	Het
Phc2	A	G	4: 128,641,954 (GRCm39)	R759G	probably benign	Het
Plch1	A	T	3: 63,606,375 (GRCm39)	N1176K	probably benign	Het
Plec	T	A	15: 76,059,089 (GRCm39)	Y3616F	probably damaging	Het
Ptpn11	G	T	5: 121,282,707 (GRCm39)	T426N	probably benign	Het
Rictor	A	G	15: 6,816,462 (GRCm39)	T1245A	not run	Het
Rilp	T	C	11: 75,401,712 (GRCm39)	V164A	probably damaging	Het
Rnf39	A	T	17: 37,257,971 (GRCm39)	T168S	probably damaging	Het
Rptor	C	G	11: 119,763,181 (GRCm39)	Q922E	probably benign	Het
Sall1	A	T	8: 89,759,396 (GRCm39)	L236Q	probably damaging	Het
Skint7	A	G	4: 111,845,324 (GRCm39)	T379A	probably benign	Het
Spata22	C	A	11: 73,236,702 (GRCm39)	T336N	probably damaging	Het
Spata31	T	C	13: 65,068,547 (GRCm39)	S232P	probably benign	Het
Spink5	T	A	18: 44,110,722 (GRCm39)	C98S	possibly damaging	Het
Stard6	T	C	18: 70,633,506 (GRCm39)	V171A	possibly damaging	Het
Tex9	A	T	9: 72,388,072 (GRCm39)		probably null	Het
Traf7	T	C	17: 24,728,519 (GRCm39)	D621G	probably damaging	Het
Trak1	C	T	9: 121,277,973 (GRCm39)	T353M	possibly damaging	Het
Trim68	A	T	7: 102,327,569 (GRCm39)	Y461*	probably null	Het
Usp1	A	G	4: 98,814,688 (GRCm39)		probably benign	Het
Vmn2r42	T	A	7: 8,195,641 (GRCm39)	I502F	probably benign	Het
Wbp4	C	A	14: 79,714,261 (GRCm39)	G84C	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp787	A	G	7: 6,135,106 (GRCm39)	*382Q	probably null	Het
Zfp831	G	T	2: 174,487,002 (GRCm39)	C559F	possibly damaging	Het
Zgpat	G	C	2: 181,007,882 (GRCm39)	A140P	probably benign	Het
Zscan4e	T	A	7: 11,041,002 (GRCm39)	Y290F	probably benign	Het

Other mutations in Camk2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Camk2b	APN	11	5,922,310 (GRCm39)	missense	probably damaging	1.00
IGL01821:Camk2b	APN	11	5,947,890 (GRCm39)	missense	possibly damaging	0.92
IGL02219:Camk2b	APN	11	5,926,872 (GRCm39)	missense	possibly damaging	0.56
IGL02890:Camk2b	APN	11	5,951,340 (GRCm39)	missense	possibly damaging	0.90
R1645:Camk2b	UTSW	11	5,922,719 (GRCm39)	missense	probably damaging	1.00
R1786:Camk2b	UTSW	11	5,927,880 (GRCm39)	missense	probably benign	0.06
R1836:Camk2b	UTSW	11	5,922,384 (GRCm39)	missense	probably damaging	1.00
R2133:Camk2b	UTSW	11	5,927,880 (GRCm39)	missense	probably benign	0.06
R3828:Camk2b	UTSW	11	5,978,932 (GRCm39)	missense	probably damaging	0.99
R4283:Camk2b	UTSW	11	5,937,099 (GRCm39)	missense	probably benign	0.39
R5919:Camk2b	UTSW	11	5,929,718 (GRCm39)	missense	probably damaging	1.00
R6074:Camk2b	UTSW	11	5,939,635 (GRCm39)	missense	probably damaging	1.00
R6269:Camk2b	UTSW	11	5,928,497 (GRCm39)	missense	probably damaging	1.00
R6595:Camk2b	UTSW	11	5,942,856 (GRCm39)	missense	probably damaging	1.00
R6999:Camk2b	UTSW	11	5,922,321 (GRCm39)	missense	probably damaging	1.00
R7030:Camk2b	UTSW	11	5,939,575 (GRCm39)	missense	probably damaging	1.00
R7798:Camk2b	UTSW	11	5,928,399 (GRCm39)	missense	probably benign	0.08
R7818:Camk2b	UTSW	11	5,927,812 (GRCm39)	missense	probably benign
R8342:Camk2b	UTSW	11	5,940,383 (GRCm39)	missense	probably benign	0.21
R8388:Camk2b	UTSW	11	5,939,026 (GRCm39)	missense	probably damaging	1.00
R8850:Camk2b	UTSW	11	5,922,838 (GRCm39)	missense	probably damaging	1.00
R9180:Camk2b	UTSW	11	5,939,332 (GRCm39)	nonsense	probably null
R9319:Camk2b	UTSW	11	5,927,814 (GRCm39)	missense	probably benign
R9493:Camk2b	UTSW	11	5,929,711 (GRCm39)	missense	probably damaging	1.00
R9725:Camk2b	UTSW	11	5,922,634 (GRCm39)	missense	possibly damaging	0.83
R9800:Camk2b	UTSW	11	5,922,408 (GRCm39)	missense	probably damaging	0.97
RF023:Camk2b	UTSW	11	5,922,301 (GRCm39)	missense	probably damaging	0.96
Z1176:Camk2b	UTSW	11	5,927,940 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- AAGTAGGCCAGGACAGCATC -3'
(R):5'- CCTGGGATTCTACACCTGTAAC -3'

Sequencing Primer
(F):5'- CTGGACAAAGGCAACCCTGG -3'
(R):5'- GGGATTCTACACCTGTAACCTTTTC -3'

Posted On

2019-09-13