Mutagenetix > Incidental Mutation

Incidental Mutation 'R7798:Camk2b'

600374

Institutional Source

Beutler Lab

Gene Symbol

Camk2b

Ensembl Gene

ENSMUSG00000057897

Gene Name

calcium/calmodulin-dependent protein kinase II, beta

Synonyms

CaMK II

MMRRC Submission

045648-MU

Accession Numbers

Essential gene?

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

Stock #

R7798 (G1)

Quality Score

202.009

Status

Not validated

Chromosome

Chromosomal Location

5919644-6016362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 5928399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 447 (S447P)

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: S447P

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000019133
Gene: ENSMUSG00000057897
AA Change: S447P

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: 99.6%
20x: 98.7%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	A	15: 79,019,932 (GRCm39)	N128I	probably damaging	Het
Abca13	A	G	11: 9,241,664 (GRCm39)	T1176A	probably benign	Het
Abca9	A	G	11: 110,029,005 (GRCm39)	V851A	probably benign	Het
Abcc6	C	A	7: 45,626,277 (GRCm39)	E1494*	probably null	Het
Adamts14	A	T	10: 61,106,952 (GRCm39)	V56E	probably damaging	Het
Adamts15	G	A	9: 30,815,939 (GRCm39)	T639M	probably damaging	Het
Albfm1	T	C	5: 90,745,370 (GRCm39)	S608P	possibly damaging	Het
Arhgap11a	A	C	2: 113,673,680 (GRCm39)	V70G	probably damaging	Het
BC051665	A	T	13: 60,932,249 (GRCm39)	D113E	probably benign	Het
Best1	T	C	19: 9,969,035 (GRCm39)	Y227C	probably damaging	Het
Ccdc88a	C	A	11: 29,427,348 (GRCm39)	Q1018K	probably benign	Het
Cdhr17	T	C	5: 17,061,656 (GRCm39)	F801L	possibly damaging	Het
Cfap74	T	A	4: 155,507,079 (GRCm39)	V180D		Het
Clca3a1	T	A	3: 144,463,723 (GRCm39)	T185S	probably damaging	Het
Clca3b	T	C	3: 144,533,891 (GRCm39)	S495G	probably damaging	Het
Cyb5r2	A	T	7: 107,353,155 (GRCm39)	Y96N	possibly damaging	Het
Cyp21a1	T	C	17: 35,023,295 (GRCm39)	K27E	probably benign	Het
Cyp2ab1	T	C	16: 20,131,166 (GRCm39)	E321G	probably benign	Het
Des	T	C	1: 75,339,003 (GRCm39)	I228T	probably damaging	Het
Dis3l	G	T	9: 64,248,299 (GRCm39)	P39T	probably benign	Het
Disp2	A	C	2: 118,622,360 (GRCm39)	I1031L	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Etl4	G	A	2: 20,786,757 (GRCm39)		probably null	Het
Fgf23	A	T	6: 127,050,177 (GRCm39)	D62V	probably damaging	Het
Galnt15	C	T	14: 31,751,862 (GRCm39)	T138I	possibly damaging	Het
Ggt6	A	T	11: 72,326,367 (GRCm39)		probably benign	Het
Gpr180	T	A	14: 118,391,098 (GRCm39)	V209D	probably damaging	Het
Gzma	A	T	13: 113,232,858 (GRCm39)	F78Y	probably benign	Het
Igkv8-30	A	T	6: 70,094,355 (GRCm39)	C19S	probably benign	Het
Il1r1	G	A	1: 40,349,526 (GRCm39)	V361I	probably benign	Het
Intu	T	C	3: 40,646,359 (GRCm39)	V598A	probably damaging	Het
Itpr2	A	G	6: 146,287,513 (GRCm39)	F471L	probably benign	Het
Kntc1	T	A	5: 123,924,357 (GRCm39)	V1081E	probably benign	Het
Kntc1	T	A	5: 123,957,180 (GRCm39)	V2163E	possibly damaging	Het
Macf1	T	C	4: 123,271,893 (GRCm39)	K6552E	probably damaging	Het
Marf1	T	C	16: 13,956,315 (GRCm39)	H842R	probably benign	Het
Mgat4b	A	G	11: 50,116,497 (GRCm39)	T10A	possibly damaging	Het
Muc21	C	G	17: 35,932,146 (GRCm39)	G680A	unknown	Het
Muc5ac	T	C	7: 141,347,778 (GRCm39)		probably null	Het
Nrk	CGCAGCAGCAGCAGCAGCAGC	CGCAGCAGCAGCAGCAGC	X: 137,883,426 (GRCm39)		probably benign	Het
Nsun4	T	G	4: 115,908,371 (GRCm39)	S730R	possibly damaging	Het
Or12e1	A	T	2: 87,022,636 (GRCm39)	I202L	probably benign	Het
Or12k7	A	T	2: 36,959,186 (GRCm39)	S290C	probably damaging	Het
Or1n1	T	C	2: 36,750,348 (GRCm39)	E4G	probably benign	Het
Or4f6	A	G	2: 111,838,617 (GRCm39)	F305L	probably benign	Het
Or4k15	A	T	14: 50,364,895 (GRCm39)	Y287F	probably damaging	Het
Padi3	C	T	4: 140,513,750 (GRCm39)	E653K	probably benign	Het
Pde4a	A	G	9: 21,109,959 (GRCm39)	E280G	possibly damaging	Het
Phactr3	G	A	2: 177,925,703 (GRCm39)	R326H	probably benign	Het
Prob1	G	A	18: 35,786,397 (GRCm39)	P619L	possibly damaging	Het
Ptk2	G	A	15: 73,167,224 (GRCm39)	R368W	probably damaging	Het
Rgs6	A	G	12: 83,116,293 (GRCm39)	T240A	probably benign	Het
Rpa1	A	T	11: 75,203,635 (GRCm39)	Y356N	probably damaging	Het
Rxrb	T	A	17: 34,252,579 (GRCm39)	D165E	probably damaging	Het
Sco1	A	G	11: 66,944,628 (GRCm39)	T84A	possibly damaging	Het
Sepsecs	T	C	5: 52,804,531 (GRCm39)	I380V	probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slco3a1	A	G	7: 73,968,344 (GRCm39)	S459P	probably benign	Het
Smg1	A	T	7: 117,771,162 (GRCm39)	S1503R	possibly damaging	Het
Sox2	G	A	3: 34,704,791 (GRCm39)	R76H	probably damaging	Het
Spty2d1	G	A	7: 46,645,804 (GRCm39)	S613F	probably damaging	Het
Stab2	A	T	10: 86,793,776 (GRCm39)	Y440N	probably damaging	Het
Syn3	A	G	10: 85,916,117 (GRCm39)	Y290H	probably damaging	Het
Tex15	C	T	8: 34,071,875 (GRCm39)	S2474F	possibly damaging	Het
Tgtp1	A	G	11: 48,878,159 (GRCm39)	F182S	probably benign	Het
Tmcc1	A	T	6: 116,020,539 (GRCm39)	S304R		Het
Tmem130	T	G	5: 144,680,580 (GRCm39)	K275Q	probably damaging	Het
Tmem9	C	A	1: 135,961,927 (GRCm39)	T174K	probably damaging	Het
Ttyh3	C	T	5: 140,620,538 (GRCm39)	R233Q	probably damaging	Het
Tut7	A	T	13: 59,963,389 (GRCm39)	M323K	possibly damaging	Het
Twnk	T	C	19: 44,996,107 (GRCm39)	M180T	probably benign	Het
Ube4a	A	G	9: 44,844,629 (GRCm39)	V874A	probably damaging	Het
Ugt2a3	T	C	5: 87,475,582 (GRCm39)	N350S	probably damaging	Het
Vegfa	C	T	17: 46,342,761 (GRCm39)	G19D	probably damaging	Het
Vmn2r2	C	A	3: 64,041,518 (GRCm39)	C399F	possibly damaging	Het
Vmn2r65	G	T	7: 84,595,530 (GRCm39)	P385T	probably benign	Het
Vmn2r65	A	G	7: 84,596,192 (GRCm39)	F164S	probably damaging	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
R7396:Camk2b	UTSW	11	5,928,432 (GRCm39)	missense	probably benign
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'- CTGTCTAGTGGCCATGAGTAG -3'
(R):5'- GCCACCTTCTGTCTTGAGTG -3'

Sequencing Primer
(F):5'- GTAGGCCAGGACAGCATC -3'
(R):5'- GAGTGTCTACCATCTACTGCTTG -3'

Posted On

2019-11-26