Mutagenetix > Incidental Mutation

Incidental Mutation 'R0024:Camk2d'

15172

Institutional Source

Beutler Lab

Gene Symbol

Camk2d

Ensembl Gene

ENSMUSG00000053819

Gene Name

calcium/calmodulin-dependent protein kinase II, delta

Synonyms

CaMK II, 2810011D23Rik, 8030469K03Rik

MMRRC Submission

038319-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R0024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

126596302-126846326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126797723 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 281 (M281V)

Ref Sequence

ENSEMBL: ENSMUSP00000133019 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066466] [ENSMUST00000106399] [ENSMUST00000106400] [ENSMUST00000106401] [ENSMUST00000106402] [ENSMUST00000134466] [ENSMUST00000145454] [ENSMUST00000163226] [ENSMUST00000171289] [ENSMUST00000199300] [ENSMUST00000200171]

AlphaFold

Q6PHZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000066466
AA Change: M281V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: M281V

Domain	Start	End	E-Value	Type
S_TKc	14	272	9.91e-110	SMART
Pfam:CaMKII_AD	346	473	7.4e-67	PFAM
Pfam:DUF4440	350	464	4.7e-13	PFAM
Pfam:SnoaL_3	350	476	3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106399
AA Change: M281V

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

SMART Domains

Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: M281V

Domain	Start	End	E-Value	Type
S_TKc	14	272	9.91e-110	SMART
Pfam:CaMKII_AD	357	484	3.5e-67	PFAM
Pfam:DUF4440	361	475	5.4e-13	PFAM
Pfam:SnoaL_3	361	487	3e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106400
AA Change: M281V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: M281V

Domain	Start	End	E-Value	Type
S_TKc	14	272	9.91e-110	SMART
Pfam:CaMKII_AD	346	473	4.7e-67	PFAM
Pfam:DUF4440	350	464	3.2e-13	PFAM
Pfam:SnoaL_3	350	476	2.1e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106401
AA Change: M281V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: M281V

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.33e-110	SMART
Pfam:CaMKII_AD	380	507	3.8e-67	PFAM
Pfam:DUF4440	384	498	5.8e-13	PFAM
Pfam:SnoaL_3	384	510	3.2e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106402
AA Change: M281V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: M281V

Domain	Start	End	E-Value	Type
S_TKc	14	272	9.91e-110	SMART
Pfam:CaMKII_AD	380	507	1.1e-66	PFAM
Pfam:DUF4440	384	498	8.1e-13	PFAM
Pfam:SnoaL_3	384	510	5.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129293

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131869

SMART Domains

Protein: ENSMUSP00000126412
Gene: ENSMUSG00000053819

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	109	5.1e-26	PFAM
Pfam:Pkinase_Tyr	3	111	4.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134466

SMART Domains

Protein: ENSMUSP00000114801
Gene: ENSMUSG00000053819

Domain	Start	End	E-Value	Type
Pfam:Pkinase	14	140	1e-33	PFAM
Pfam:Pkinase_Tyr	14	141	4.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145454

SMART Domains

Protein: ENSMUSP00000130769
Gene: ENSMUSG00000053819

Domain	Start	End	E-Value	Type
Pfam:Pkinase	14	140	1.4e-33	PFAM
Pfam:Pkinase_Tyr	14	142	4.7e-16	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147043

Predicted Effect

probably benign
Transcript: ENSMUST00000163226
AA Change: M281V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819
AA Change: M281V

Domain	Start	End	E-Value	Type
S_TKc	14	272	9.91e-110	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167417

SMART Domains

Protein: ENSMUSP00000131124
Gene: ENSMUSG00000053819

Domain	Start	End	E-Value	Type
Pfam:CaMKII_AD	53	180	4.8e-68	PFAM
Pfam:DUF4440	57	171	8.2e-14	PFAM
Pfam:SnoaL_3	57	183	4.2e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167985

SMART Domains

Protein: ENSMUSP00000126207
Gene: ENSMUSG00000053819

Domain	Start	End	E-Value	Type
Pfam:CaMKII_AD	59	130	2.2e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169051

SMART Domains

Protein: ENSMUSP00000132554
Gene: ENSMUSG00000053819

Domain	Start	End	E-Value	Type
S_TKc	14	272	9.91e-110	SMART
Pfam:CaMKII_AD	346	473	6.9e-67	PFAM
Pfam:DUF4440	350	464	4.3e-13	PFAM
Pfam:SnoaL_3	350	476	2.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171289
AA Change: M281V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: M281V

Domain	Start	End	E-Value	Type
S_TKc	14	272	1.33e-110	SMART
Pfam:CaMKII_AD	380	507	3.3e-63	PFAM
Pfam:DUF4440	384	498	3.2e-12	PFAM
Pfam:SnoaL_3	384	509	8.7e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199300
AA Change: M281V

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: M281V

Domain	Start	End	E-Value	Type
S_TKc	14	272	9.91e-110	SMART
Pfam:CaMKII_AD	346	473	1.3e-62	PFAM
Pfam:DUF4440	350	464	1.7e-11	PFAM
Pfam:SnoaL_3	350	475	4.6e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200171
AA Change: M281V

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

SMART Domains

Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: M281V

Domain	Start	End	E-Value	Type
S_TKc	14	272	9.91e-110	SMART
Pfam:CaMKII_AD	380	507	9.8e-63	PFAM
Pfam:DUF4440	384	498	2.5e-11	PFAM
Pfam:SnoaL_3	384	509	5.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198487

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 79.2%
3x: 69.7%
10x: 44.0%
20x: 23.5%

Validation Efficiency

95% (75/79)

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 delta chain. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Distinct isoforms of this chain have different expression patterns.[provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced response to heart induced stress. Mice homozygous for an allele that produces an oxidant-resistant product exhibit reduced response to myocardial infarction in a diabetic model. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	C	8: 83,728,284	T260A	probably damaging	Het
Ahctf1	G	A	1: 179,752,436	T2067M	probably damaging	Het
Akip1	T	C	7: 109,704,138	S63P	probably benign	Het
Ankrd34c	G	A	9: 89,729,527	P254S	possibly damaging	Het
Aqp8	T	C	7: 123,467,440	I256T	probably benign	Het
Arnt2	A	G	7: 84,284,126	V308A	probably benign	Het
Astn1	G	A	1: 158,684,215	S1209N	probably damaging	Het
Atf7ip	T	C	6: 136,599,820		probably benign	Het
Bbx	T	A	16: 50,224,918	M427L	probably benign	Het
Cadm4	T	C	7: 24,502,744	L336P	probably benign	Het
Dll3	A	G	7: 28,300,161		probably benign	Het
Dscam	G	A	16: 96,593,385	R1906*	probably null	Het
Dst	C	T	1: 34,189,119	P1606L	probably damaging	Het
Eif2ak3	A	G	6: 70,892,356	T676A	probably benign	Het
Entpd5	T	C	12: 84,373,733	M428T	probably benign	Het
Fry	T	G	5: 150,380,803	S553A	probably benign	Het
Gls2	G	A	10: 128,199,256	R86H	probably damaging	Het
Gm14340	T	A	2: 180,824,250		noncoding transcript	Het
Gm9457	A	C	8: 4,813,131		noncoding transcript	Het
Hfm1	T	C	5: 106,856,924	K1179E	probably benign	Het
Iqgap1	T	C	7: 80,751,939	T473A	probably benign	Het
Krt34	A	T	11: 100,041,037	C119S	probably benign	Het
Krt6a	A	G	15: 101,690,715		probably benign	Het
Lysmd4	A	G	7: 67,226,080	T164A	probably benign	Het
Mroh2b	T	A	15: 4,925,627	Y701N	probably damaging	Het
Pi4ka	T	C	16: 17,315,535		probably benign	Het
Plcb1	A	G	2: 135,362,425	S900G	probably benign	Het
Plxna2	T	A	1: 194,643,995	I79N	possibly damaging	Het
Prpf31	C	A	7: 3,636,659		probably null	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rsc1a1	T	C	4: 141,685,272	K110E	probably benign	Het
Sin3a	T	A	9: 57,118,253		probably benign	Het
Slc24a2	T	C	4: 87,028,240		probably benign	Het
Slc6a3	A	T	13: 73,540,837		probably benign	Het
St5	T	C	7: 109,524,659	H1131R	probably damaging	Het
Sugct	G	A	13: 16,857,869	H433Y	probably benign	Het
Sycp2l	A	G	13: 41,141,788	I310M	probably damaging	Het
Tpm3	C	A	3: 90,087,449		probably null	Het
Ttc27	T	C	17: 74,770,264	F385L	possibly damaging	Het
Utrn	A	G	10: 12,406,011	V3301A	probably benign	Het

Other mutations in Camk2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Camk2d	APN	3	126838272	nonsense	probably null
IGL01113:Camk2d	APN	3	126780412	missense	probably damaging	1.00
IGL01125:Camk2d	APN	3	126798285	splice site	probably benign
IGL01912:Camk2d	APN	3	126810632	splice site	probably null
IGL01934:Camk2d	APN	3	126834655	splice site	probably null
IGL02184:Camk2d	APN	3	126797773	missense	probably damaging	0.97
IGL02218:Camk2d	APN	3	126840153	missense	probably benign	0.00
IGL02804:Camk2d	APN	3	126797738	missense	possibly damaging	0.53
IGL03347:Camk2d	APN	3	126796901	missense	probably damaging	1.00
IGL03354:Camk2d	APN	3	126796966	splice site	probably null
baryon	UTSW	3	126597482	nonsense	probably null
Neutron	UTSW	3	126780420	missense	probably damaging	1.00
R0024:Camk2d	UTSW	3	126797723	missense	probably benign	0.01
R0628:Camk2d	UTSW	3	126810624	splice site	probably benign
R1114:Camk2d	UTSW	3	126840292	missense	probably damaging	1.00
R1433:Camk2d	UTSW	3	126808224	missense	probably benign	0.25
R2021:Camk2d	UTSW	3	126780456	missense	probably damaging	1.00
R2096:Camk2d	UTSW	3	126780442	missense	probably damaging	1.00
R2098:Camk2d	UTSW	3	126780442	missense	probably damaging	1.00
R2421:Camk2d	UTSW	3	126780415	missense	probably damaging	1.00
R2437:Camk2d	UTSW	3	126834628	missense	probably damaging	1.00
R2930:Camk2d	UTSW	3	126808231	missense	possibly damaging	0.86
R3738:Camk2d	UTSW	3	126771839	missense	probably damaging	1.00
R3969:Camk2d	UTSW	3	126796959	missense	possibly damaging	0.81
R4455:Camk2d	UTSW	3	126780403	missense	probably damaging	1.00
R4829:Camk2d	UTSW	3	126779997	intron	probably benign
R4916:Camk2d	UTSW	3	126783975	missense	probably damaging	1.00
R5277:Camk2d	UTSW	3	126684741	intron	probably benign
R5329:Camk2d	UTSW	3	126597482	nonsense	probably null
R5364:Camk2d	UTSW	3	126780420	missense	probably damaging	1.00
R5473:Camk2d	UTSW	3	126597399	utr 5 prime	probably benign
R5509:Camk2d	UTSW	3	126840316	missense	probably damaging	1.00
R5958:Camk2d	UTSW	3	126779865	intron	probably benign
R6010:Camk2d	UTSW	3	126797714	missense	possibly damaging	0.83
R6145:Camk2d	UTSW	3	126805858	missense	probably benign
R7267:Camk2d	UTSW	3	126797730	missense	possibly damaging	0.59
R7708:Camk2d	UTSW	3	126597440	start codon destroyed	probably benign	0.00
R8249:Camk2d	UTSW	3	126797729	missense	probably damaging	1.00
R8554:Camk2d	UTSW	3	126770799	missense	possibly damaging	0.92
R9489:Camk2d	UTSW	3	126767560	missense	probably damaging	1.00
R9698:Camk2d	UTSW	3	126840184	missense	possibly damaging	0.91

Posted On

2012-12-12