Mutagenetix > Incidental Mutation

Incidental Mutation 'R4829:Camk2d'

372649

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

042445-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.205) question?

Stock #

R4829 (G1)

Quality Score

203

Status

Validated

Chromosome

Chromosomal Location

126389951-126639975 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to A at 126573646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143677 (fasta)

Gene Model

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

AlphaFold

Q6PHZ2

Predicted Effect

probably benign
Transcript: ENSMUST00000066466

SMART Domains

Protein: ENSMUSP00000063359
Gene: ENSMUSG00000053819

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

SMART Domains

Protein: ENSMUSP00000102007
Gene: ENSMUSG00000053819

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

SMART Domains

Protein: ENSMUSP00000102008
Gene: ENSMUSG00000053819

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

SMART Domains

Protein: ENSMUSP00000102009
Gene: ENSMUSG00000053819

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

SMART Domains

Protein: ENSMUSP00000102010
Gene: ENSMUSG00000053819

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

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

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: 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

noncoding transcript
Transcript: ENSMUST00000171950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147043

Predicted Effect

probably benign
Transcript: ENSMUST00000200171

SMART Domains

Protein: ENSMUSP00000143677
Gene: ENSMUSG00000053819

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

probably benign
Transcript: ENSMUST00000171289

SMART Domains

Protein: ENSMUSP00000129999
Gene: ENSMUSG00000053819

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

SMART Domains

Protein: ENSMUSP00000143504
Gene: ENSMUSG00000053819

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

SMART Domains

Protein: ENSMUSP00000133019
Gene: ENSMUSG00000053819

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

98% (109/111)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,780 (GRCm39)	V1323A	probably damaging	Het
Abcb1a	T	C	5: 8,773,214 (GRCm39)	L814P	probably damaging	Het
Acat1	C	A	9: 53,502,756 (GRCm39)	G191V	probably damaging	Het
Acsbg3	A	G	17: 57,190,500 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,224,277 (GRCm39)	D1184E	probably benign	Het
Adss1	T	C	12: 112,601,147 (GRCm39)	L283P	probably damaging	Het
Arid4a	A	G	12: 71,070,272 (GRCm39)		probably null	Het
Arid4b	T	A	13: 14,359,023 (GRCm39)	D599E	probably benign	Het
AW146154	T	C	7: 41,130,057 (GRCm39)	K353R	possibly damaging	Het
Axdnd1	G	T	1: 156,204,216 (GRCm39)	R547S	possibly damaging	Het
Bcat1	A	T	6: 144,961,201 (GRCm39)	F134Y	probably damaging	Het
Catsperg2	T	G	7: 29,400,550 (GRCm39)	K268T	probably damaging	Het
Ccar1	A	C	10: 62,581,114 (GRCm39)	F1103L	unknown	Het
Ccdc141	T	A	2: 76,905,260 (GRCm39)	E395D	probably damaging	Het
Cdc37l1	A	G	19: 28,967,983 (GRCm39)	T16A	probably benign	Het
Cdca2	T	A	14: 67,931,202 (GRCm39)		probably null	Het
Cfap96	T	C	8: 46,420,952 (GRCm39)	I159V	probably damaging	Het
Cntn5	T	G	9: 9,976,288 (GRCm39)	K219Q	probably damaging	Het
Col23a1	C	A	11: 51,448,413 (GRCm39)	A202E	unknown	Het
Csmd1	G	A	8: 16,177,310 (GRCm39)	L1318F	probably damaging	Het
Csnk1g3	C	T	18: 54,028,895 (GRCm39)	A16V	possibly damaging	Het
Cspg4b	A	G	13: 113,504,696 (GRCm39)	I1942V	probably benign	Het
Dab2	A	G	15: 6,454,162 (GRCm39)	D224G	probably damaging	Het
Ddr1	A	T	17: 35,996,005 (GRCm39)	C625S	probably damaging	Het
Dennd4a	T	C	9: 64,796,338 (GRCm39)	V788A	probably damaging	Het
Dgcr2	T	C	16: 17,660,617 (GRCm39)	E402G	possibly damaging	Het
Dhcr7	T	G	7: 143,391,654 (GRCm39)	I81S	probably damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fat1	C	T	8: 45,489,199 (GRCm39)	T3467I	probably damaging	Het
Fblim1	T	C	4: 141,312,020 (GRCm39)	E235G	probably damaging	Het
Fbxo38	T	A	18: 62,651,662 (GRCm39)	M548L	probably benign	Het
Fstl5	T	C	3: 76,229,489 (GRCm39)	Y97H	probably damaging	Het
Glb1l	A	T	1: 75,176,994 (GRCm39)	S481T	probably damaging	Het
Gp2	A	T	7: 119,056,407 (GRCm39)	V22E	possibly damaging	Het
Grin1	A	G	2: 25,208,736 (GRCm39)	S55P	possibly damaging	Het
Herc2	A	G	7: 55,756,240 (GRCm39)	D760G	probably benign	Het
Hpn	A	G	7: 30,798,300 (GRCm39)		probably benign	Het
Hsf2	T	C	10: 57,372,266 (GRCm39)	V73A	probably damaging	Het
Ighv1-42	T	C	12: 114,900,788 (GRCm39)	Y80C	probably benign	Het
Ighv1-64	T	C	12: 115,471,346 (GRCm39)	K57R	probably benign	Het
Klc1	T	C	12: 111,762,037 (GRCm39)	I569T	probably damaging	Het
Klra3	T	G	6: 130,300,579 (GRCm39)	K263N	probably benign	Het
Lrcol1	C	A	5: 110,502,393 (GRCm39)	H90N	probably benign	Het
Mamdc4	T	C	2: 25,455,368 (GRCm39)	E921G	possibly damaging	Het
Mark1	G	A	1: 184,637,724 (GRCm39)	R622W	possibly damaging	Het
Mdga1	A	G	17: 30,065,343 (GRCm39)	S696P	possibly damaging	Het
Mmp1b	C	T	9: 7,370,729 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtnr1a	T	C	8: 45,538,652 (GRCm39)		probably benign	Het
Myo5a	T	C	9: 75,043,689 (GRCm39)	I226T	probably damaging	Het
Ncoa6	G	T	2: 155,257,147 (GRCm39)	P799T	probably damaging	Het
Npc1l1	C	T	11: 6,164,010 (GRCm39)		probably null	Het
Nxph3	T	C	11: 95,402,321 (GRCm39)	E31G	probably benign	Het
Obscn	T	C	11: 58,945,072 (GRCm39)	I4649V	probably null	Het
Or10d4b	A	T	9: 39,534,734 (GRCm39)	H103L	probably damaging	Het
Or8b12b	G	T	9: 37,684,243 (GRCm39)	C96F	probably damaging	Het
Or8g35	A	T	9: 39,381,663 (GRCm39)	Y120N	probably damaging	Het
Or8h10	G	A	2: 86,808,918 (GRCm39)	S74L	probably damaging	Het
P3h3	G	A	6: 124,818,601 (GRCm39)		probably benign	Het
Pcnx2	A	T	8: 126,587,797 (GRCm39)		probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Pla2g4d	A	G	2: 120,097,224 (GRCm39)	S792P	probably damaging	Het
Plppr4	A	T	3: 117,129,240 (GRCm39)	L76M	possibly damaging	Het
Ppp2r3d	A	T	9: 101,089,709 (GRCm39)	S205T	possibly damaging	Het
Prkdc	G	A	16: 15,519,939 (GRCm39)	D1126N	possibly damaging	Het
Prrt4	G	A	6: 29,177,181 (GRCm39)	S196L	probably benign	Het
Ptpn21	A	C	12: 98,655,555 (GRCm39)	S471A	probably damaging	Het
Ptprk	C	A	10: 28,456,480 (GRCm39)	S9*	probably null	Het
Rassf4	A	T	6: 116,622,103 (GRCm39)	I163K	possibly damaging	Het
Rgs22	C	A	15: 36,104,034 (GRCm39)	R142S	probably damaging	Het
Rit2	C	A	18: 31,345,726 (GRCm39)	L73F	probably damaging	Het
Rrbp1	A	C	2: 143,831,607 (GRCm39)	S187A	probably benign	Het
Rspo2	A	T	15: 42,956,583 (GRCm39)	Y83*	probably null	Het
Scn5a	C	T	9: 119,363,773 (GRCm39)	V456M	probably benign	Het
Scn9a	T	A	2: 66,382,057 (GRCm39)	H290L	probably benign	Het
Smarca4	T	C	9: 21,550,623 (GRCm39)	I452T	probably damaging	Het
Smc2	T	A	4: 52,449,612 (GRCm39)	I198K	probably damaging	Het
Smim14	G	A	5: 65,617,946 (GRCm39)		probably benign	Het
Spg11	A	C	2: 121,938,936 (GRCm39)	N339K	probably benign	Het
Spta1	A	G	1: 174,065,493 (GRCm39)	E2014G	probably benign	Het
Stk4	T	C	2: 163,941,747 (GRCm39)		probably null	Het
Sypl1	C	T	12: 33,017,645 (GRCm39)	T121M	probably damaging	Het
Tas2r120	T	A	6: 132,634,331 (GRCm39)	F138I	probably benign	Het
Tcstv4	G	A	13: 120,769,926 (GRCm39)	C82Y	possibly damaging	Het
Tet2	A	C	3: 133,182,381 (GRCm39)	C1194W	possibly damaging	Het
Tex29	T	C	8: 11,905,668 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,197,067 (GRCm39)	T91S	possibly damaging	Het
Tnik	A	T	3: 28,593,690 (GRCm39)		probably benign	Het
Tnr	A	T	1: 159,685,974 (GRCm39)	I402F	probably benign	Het
Unc93b1	A	T	19: 3,994,293 (GRCm39)	S475C	probably damaging	Het
Utrn	T	A	10: 12,539,205 (GRCm39)	E1937D	probably benign	Het
Vmn1r227	A	T	17: 20,955,927 (GRCm39)		noncoding transcript	Het
Vmn2r101	G	A	17: 19,832,229 (GRCm39)	V742I	probably benign	Het
Vmn2r81	T	C	10: 79,083,635 (GRCm39)	L3P	possibly damaging	Het
Zfp882	T	G	8: 72,668,233 (GRCm39)	H353Q	probably damaging	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
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
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'- TCAGTCTCCAAAATTTGTGCAG -3'
(R):5'- CAAACTCATGCACTGTTGTCTC -3'

Sequencing Primer
(F):5'- GTCTCCAAAATTTGTGCAGAAATTG -3'
(R):5'- CACTGTTGTCTCTCCGGGAG -3'

Posted On

2016-03-01