Mutagenetix > Incidental Mutation

Incidental Mutation 'R2421:Camk2d'

249270

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

040383-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.270) question?

Stock #

R2421 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

126596302-126846326 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126780415 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 157 (D157G)

Ref Sequence

ENSEMBL: ENSMUSP00000143677 (fasta)

Gene Model

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

AlphaFold

Q6PHZ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000066466
AA Change: D157G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819
AA Change: D157G

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

possibly damaging
Transcript: ENSMUST00000106399
AA Change: D157G

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819
AA Change: D157G

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 damaging
Transcript: ENSMUST00000106400
AA Change: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819
AA Change: D157G

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 damaging
Transcript: ENSMUST00000106401
AA Change: D157G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819
AA Change: D157G

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 damaging
Transcript: ENSMUST00000106402
AA Change: D157G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819
AA Change: D157G

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

noncoding transcript
Transcript: ENSMUST00000134987

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 damaging
Transcript: ENSMUST00000171289
AA Change: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819
AA Change: D157G

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 damaging
Transcript: ENSMUST00000163226
AA Change: D157G

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819
AA Change: D157G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000199300
AA Change: D157G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819
AA Change: D157G

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 damaging
Transcript: ENSMUST00000200171
AA Change: D157G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819
AA Change: D157G

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: 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

Meta Mutation Damage Score

0.9686

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	T	C	5: 5,455,912	Y123C	probably benign	Het
2010300C02Rik	C	A	1: 37,613,475	V1084L	probably benign	Het
Abraxas1	C	T	5: 100,812,174	R104H	possibly damaging	Het
Adamts3	A	G	5: 89,683,175	S1007P	probably damaging	Het
Adcy10	T	A	1: 165,558,597	L1118Q	probably damaging	Het
Adgre4	A	G	17: 55,778,872	E57G	probably benign	Het
Alpk2	T	C	18: 65,306,616	S1036G	probably benign	Het
Ank3	T	C	10: 69,982,204		probably benign	Het
Ankfy1	T	A	11: 72,755,896		probably benign	Het
Antxrl	A	G	14: 34,071,689		probably benign	Het
Apaf1	A	T	10: 91,020,723	V874D	probably damaging	Het
Arhgap39	T	A	15: 76,725,146	T1025S	probably damaging	Het
Arhgef12	A	T	9: 43,001,006	C519S	probably damaging	Het
Aspm	G	A	1: 139,488,487	V1512M	possibly damaging	Het
Atp13a3	T	C	16: 30,349,825	T449A	probably benign	Het
Atxn2	A	T	5: 121,802,079		probably null	Het
Birc6	T	A	17: 74,660,614	L301Q	probably damaging	Het
Ccdc122	T	C	14: 77,091,663		probably benign	Het
Ccdc137	G	A	11: 120,462,264		probably null	Het
Ccdc18	A	C	5: 108,228,588	E1298D	probably damaging	Het
Col4a3	G	A	1: 82,670,275		probably benign	Het
Coq10b	G	A	1: 55,052,977	A35T	probably benign	Het
Creb3l3	T	C	10: 81,091,818	I47V	probably benign	Het
Csgalnact1	A	T	8: 68,461,508	I15N	probably benign	Het
Dcp1b	A	G	6: 119,215,266	Q381R	probably benign	Het
Dnajc21	A	G	15: 10,461,935	S127P	probably benign	Het
Dnal1	C	T	12: 84,136,706	Q80*	probably null	Het
Dtd2	A	G	12: 51,999,855	V67A	probably benign	Het
Gart	A	G	16: 91,643,040		probably null	Het
Gm17421	T	A	12: 113,369,487		noncoding transcript	Het
Gm6327	T	C	16: 12,760,094		noncoding transcript	Het
Gm8674	T	C	13: 49,900,663		noncoding transcript	Het
Gpr107	G	A	2: 31,185,529	G351S	probably damaging	Het
H2-M10.5	A	G	17: 36,774,999	I308V	probably benign	Het
Krt13	A	T	11: 100,120,051	L159Q	probably benign	Het
Krt78	T	C	15: 101,947,264	E704G	probably damaging	Het
Lama1	A	T	17: 67,750,553	M541L	probably benign	Het
Lenep	G	A	3: 89,402,574		probably null	Het
Lrp1b	T	C	2: 40,882,133		probably benign	Het
Ly6g6e	G	A	17: 35,078,146	R121Q	probably benign	Het
Lyn	C	T	4: 3,748,787	A255V	possibly damaging	Het
Mdn1	T	A	4: 32,723,621	I2519K	probably damaging	Het
Mmaa	T	A	8: 79,281,432	R59W	probably damaging	Het
Ms4a4b	A	G	19: 11,454,697	I61V	possibly damaging	Het
Ndufaf1	T	C	2: 119,655,737	E298G	probably damaging	Het
Olfr1219	T	C	2: 89,074,992	Y33C	possibly damaging	Het
Olfr175-ps1	T	C	16: 58,824,346	D121G	probably damaging	Het
Olfr178	T	C	16: 58,889,965	E85G	probably benign	Het
Olfr211	T	A	6: 116,493,713	C35S	probably benign	Het
Olfr975	A	G	9: 39,950,528	L81P	possibly damaging	Het
Pef1	C	A	4: 130,127,317	C221*	probably null	Het
Plekhg1	G	A	10: 3,958,048	M988I	probably benign	Het
Pnliprp1	T	A	19: 58,744,085	I460N	probably benign	Het
Ppfia4	T	C	1: 134,327,400	N239S	probably benign	Het
Ppp4r3a	A	G	12: 101,042,653		probably benign	Het
Prlr	T	A	15: 10,319,257	W91R	probably damaging	Het
Psmd2	T	A	16: 20,660,106		probably null	Het
Ptprt	T	A	2: 162,278,040		probably benign	Het
Rbm12b2	T	C	4: 12,095,127	F662S	possibly damaging	Het
Rgs6	C	A	12: 83,116,283	T421K	possibly damaging	Het
Ryr2	T	G	13: 11,591,237	Q4486H	probably damaging	Het
Scn7a	A	T	2: 66,726,302		probably benign	Het
Smc1a	A	G	X: 152,047,975		probably benign	Het
Synrg	A	G	11: 84,009,224	E674G	probably damaging	Het
Syt9	G	A	7: 107,436,781	R335K	probably benign	Het
Taar7a	T	C	10: 23,992,517	N322S	probably damaging	Het
Tfb2m	C	A	1: 179,533,666	W252C	possibly damaging	Het
Tmub2	T	A	11: 102,287,755	D161E	probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Tyw1	A	T	5: 130,269,260	H214L	probably damaging	Het
Tyw5	A	G	1: 57,396,748	I82T	possibly damaging	Het
Uba6	A	G	5: 86,132,616		probably null	Het
Unc13c	T	C	9: 73,931,547	Y674C	probably damaging	Het
Vangl2	T	C	1: 172,007,959	Y382C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532	Y605H	probably benign	Het
Vps13a	T	G	19: 16,759,671	I101L	probably benign	Het
Washc4	T	A	10: 83,579,521	F792I	probably damaging	Het
Wdhd1	G	A	14: 47,258,584	H608Y	probably benign	Het
Wdr48	T	A	9: 119,902,404	I56K	probably damaging	Het
Xpo4	T	C	14: 57,629,503	D194G	probably benign	Het
Zfp644	A	G	5: 106,637,244	M479T	possibly damaging	Het
Zfp821	T	A	8: 109,709,533		probably null	Het
Zswim8	A	G	14: 20,719,457	Y1237C	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AACAGTGCATGAGTTTGCTTCC -3'
(R):5'- GGGATCCAGTGTGTTAAAATTAGTG -3'

Sequencing Primer
(F):5'- CTGCCCTGTTTAATCTTGTACAAATG -3'
(R):5'- GAAGATGTTGCTAGAGTCCCC -3'

Posted On

2014-11-12