Mutagenetix > Incidental Mutation

Incidental Mutation 'R0024:Camk2d'

177902

Institutional Source

Beutler Lab

Gene Symbol

Camk2d

Ensembl Gene

ENSMUSG00000053819

Gene Name

calcium/calmodulin-dependent protein kinase II, delta

Synonyms

CaMK II, 8030469K03Rik, 2810011D23Rik

MMRRC Submission

038319-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R0024 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

126389951-126639975 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126591372 bp (GRCm39)

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] [ENSMUST00000171289] [ENSMUST00000199300] [ENSMUST00000163226] [ENSMUST00000200171] [ENSMUST00000134466] [ENSMUST00000145454]

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: 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: 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

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: ENSMUST00000147043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171950

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: ENSMUST00000197660

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198487

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: 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

Meta Mutation Damage Score

0.0704

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (47/48)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,032,608 (GRCm39)	D209V	probably damaging	Het
Abtb3	A	G	10: 85,223,311 (GRCm39)	D40G	unknown	Het
Bbx	T	A	16: 50,045,281 (GRCm39)	M427L	probably benign	Het
Chdh	G	A	14: 29,753,553 (GRCm39)	R154H	possibly damaging	Het
Emid1	A	T	11: 5,093,869 (GRCm39)	W93R	probably damaging	Het
Grid2ip	T	A	5: 143,376,796 (GRCm39)	S947T	probably damaging	Het
Gstt4	T	A	10: 75,653,038 (GRCm39)	M175L	possibly damaging	Het
Hectd4	C	T	5: 121,446,639 (GRCm39)	T242I	possibly damaging	Het
Hfm1	T	C	5: 107,004,790 (GRCm39)	K1179E	probably benign	Het
Kif13b	A	G	14: 64,987,722 (GRCm39)	I750V	probably benign	Het
Krt34	A	T	11: 99,931,863 (GRCm39)	C119S	probably benign	Het
Krt6a	A	G	15: 101,599,150 (GRCm39)		probably benign	Het
Myof	G	T	19: 37,904,188 (GRCm39)	T4N	probably damaging	Het
Or2r3	A	G	6: 42,448,194 (GRCm39)	M306T	probably benign	Het
P3h3	T	C	6: 124,834,421 (GRCm39)	Q77R	probably benign	Het
Picalm	T	C	7: 89,779,912 (GRCm39)		probably null	Het
Plcb1	A	G	2: 135,204,345 (GRCm39)	S900G	probably benign	Het
Prkd2	T	C	7: 16,581,568 (GRCm39)	L141P	probably damaging	Het
Prpf31	C	A	7: 3,639,658 (GRCm39)		probably null	Het
Rgs5	T	A	1: 169,504,461 (GRCm39)	V37D	probably damaging	Het
Slc24a2	T	C	4: 86,946,477 (GRCm39)		probably benign	Het
Ssh2	A	T	11: 77,345,792 (GRCm39)	Q1259L	possibly damaging	Het
Sugct	G	A	13: 17,032,454 (GRCm39)	H433Y	probably benign	Het
Sycp2l	A	G	13: 41,295,264 (GRCm39)	I310M	probably damaging	Het
Utrn	A	G	10: 12,281,755 (GRCm39)	V3301A	probably benign	Het

Other mutations in Camk2d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00160:Camk2d	APN	3	126,631,921 (GRCm39)	nonsense	probably null
IGL01113:Camk2d	APN	3	126,574,061 (GRCm39)	missense	probably damaging	1.00
IGL01125:Camk2d	APN	3	126,591,934 (GRCm39)	splice site	probably benign
IGL01912:Camk2d	APN	3	126,604,281 (GRCm39)	splice site	probably null
IGL01934:Camk2d	APN	3	126,628,304 (GRCm39)	splice site	probably null
IGL02184:Camk2d	APN	3	126,591,422 (GRCm39)	missense	probably damaging	0.97
IGL02218:Camk2d	APN	3	126,633,802 (GRCm39)	missense	probably benign	0.00
IGL02804:Camk2d	APN	3	126,591,387 (GRCm39)	missense	possibly damaging	0.53
IGL03347:Camk2d	APN	3	126,590,550 (GRCm39)	missense	probably damaging	1.00
IGL03354:Camk2d	APN	3	126,590,615 (GRCm39)	splice site	probably null
baryon	UTSW	3	126,391,131 (GRCm39)	nonsense	probably null
Neutron	UTSW	3	126,574,069 (GRCm39)	missense	probably damaging	1.00
R0024:Camk2d	UTSW	3	126,591,372 (GRCm39)	missense	probably benign	0.01
R0628:Camk2d	UTSW	3	126,604,273 (GRCm39)	splice site	probably benign
R1114:Camk2d	UTSW	3	126,633,941 (GRCm39)	missense	probably damaging	1.00
R1433:Camk2d	UTSW	3	126,601,873 (GRCm39)	missense	probably benign	0.25
R2021:Camk2d	UTSW	3	126,574,105 (GRCm39)	missense	probably damaging	1.00
R2096:Camk2d	UTSW	3	126,574,091 (GRCm39)	missense	probably damaging	1.00
R2098:Camk2d	UTSW	3	126,574,091 (GRCm39)	missense	probably damaging	1.00
R2421:Camk2d	UTSW	3	126,574,064 (GRCm39)	missense	probably damaging	1.00
R2437:Camk2d	UTSW	3	126,628,277 (GRCm39)	missense	probably damaging	1.00
R2930:Camk2d	UTSW	3	126,601,880 (GRCm39)	missense	possibly damaging	0.86
R3738:Camk2d	UTSW	3	126,565,488 (GRCm39)	missense	probably damaging	1.00
R3969:Camk2d	UTSW	3	126,590,608 (GRCm39)	missense	possibly damaging	0.81
R4455:Camk2d	UTSW	3	126,574,052 (GRCm39)	missense	probably damaging	1.00
R4829:Camk2d	UTSW	3	126,573,646 (GRCm39)	intron	probably benign
R4916:Camk2d	UTSW	3	126,577,624 (GRCm39)	missense	probably damaging	1.00
R5277:Camk2d	UTSW	3	126,478,390 (GRCm39)	intron	probably benign
R5329:Camk2d	UTSW	3	126,391,131 (GRCm39)	nonsense	probably null
R5364:Camk2d	UTSW	3	126,574,069 (GRCm39)	missense	probably damaging	1.00
R5473:Camk2d	UTSW	3	126,391,048 (GRCm39)	utr 5 prime	probably benign
R5509:Camk2d	UTSW	3	126,633,965 (GRCm39)	missense	probably damaging	1.00
R5958:Camk2d	UTSW	3	126,573,514 (GRCm39)	intron	probably benign
R6010:Camk2d	UTSW	3	126,591,363 (GRCm39)	missense	possibly damaging	0.83
R6145:Camk2d	UTSW	3	126,599,507 (GRCm39)	missense	probably benign
R7267:Camk2d	UTSW	3	126,591,379 (GRCm39)	missense	possibly damaging	0.59
R7708:Camk2d	UTSW	3	126,391,089 (GRCm39)	start codon destroyed	probably benign	0.00
R8249:Camk2d	UTSW	3	126,591,378 (GRCm39)	missense	probably damaging	1.00
R8554:Camk2d	UTSW	3	126,564,448 (GRCm39)	missense	possibly damaging	0.92
R9489:Camk2d	UTSW	3	126,561,209 (GRCm39)	missense	probably damaging	1.00
R9698:Camk2d	UTSW	3	126,633,833 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- TGCACCCCAGAAGGGAAAATGTTAC -3'
(R):5'- CATACTGCCCTAGCCAGCCTATTTG -3'

Sequencing Primer
(F):5'- GACTGTCTTGTAGAAGCCCTAAG -3'
(R):5'- AGCCAGCCTATTTGCATCC -3'

Posted On

2014-04-30