Mutagenetix > Incidental Mutation

Incidental Mutation 'R4662:Camk2a'

352967

Institutional Source

Beutler Lab

Gene Symbol

Camk2a

Ensembl Gene

ENSMUSG00000024617

Gene Name

calcium/calmodulin-dependent protein kinase II alpha

Synonyms

alpha-CaMKII

MMRRC Submission

042011-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R4662 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61058704-61121224 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 61074411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 39 (Y39H)

Ref Sequence

ENSEMBL: ENSMUSP00000110952 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025519] [ENSMUST00000102888] [ENSMUST00000115297]

AlphaFold

P11798

Predicted Effect

probably damaging
Transcript: ENSMUST00000025519
AA Change: Y39H

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

SMART Domains

Protein: ENSMUSP00000025519
Gene: ENSMUSG00000024617
AA Change: Y39H

Domain	Start	End	E-Value	Type
S_TKc	13	271	3.59e-107	SMART
low complexity region	314	344	N/A	INTRINSIC
Pfam:CaMKII_AD	357	484	6.7e-68	PFAM
Pfam:DUF4440	361	475	2.6e-10	PFAM
Pfam:SnoaL_3	361	485	6e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000102888
AA Change: Y39H

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

SMART Domains

Protein: ENSMUSP00000099952
Gene: ENSMUSG00000024617
AA Change: Y39H

Domain	Start	End	E-Value	Type
S_TKc	13	271	3.59e-107	SMART
low complexity region	314	324	N/A	INTRINSIC
Pfam:CaMKII_AD	346	473	1.2e-66	PFAM
Pfam:DUF4440	350	464	4.5e-12	PFAM
Pfam:SnoaL_3	350	474	2.5e-12	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115297
AA Change: Y39H

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

SMART Domains

Protein: ENSMUSP00000110952
Gene: ENSMUSG00000024617
AA Change: Y39H

Domain	Start	End	E-Value	Type
PDB:3SOA\|A	1	52	4e-28	PDB
SCOP:d1phk__	9	49	3e-12	SMART
Blast:S_TKc	13	53	4e-19	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134496

Predicted Effect

unknown
Transcript: ENSMUST00000137805
AA Change: Y44H

SMART Domains

Protein: ENSMUSP00000123480
Gene: ENSMUSG00000024617
AA Change: Y44H

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	20	176	1.8e-22	PFAM
Pfam:Pkinase	21	176	3.7e-43	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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 kinases family, and to the Ca(2+)/calmodulin-dependent protein kinases subfamily. Calcium signaling is crucial for several aspects of plasticity at glutamatergic synapses. This calcium calmodulin-dependent protein kinase is composed of four different chains: alpha, beta, gamma, and delta. The alpha chain encoded by this gene is required for hippocampal long-term potentiation (LTP) and spatial learning. In addition to its calcium-calmodulin (CaM)-dependent activity, this protein can undergo autophosphorylation, resulting in CaM-independent activity. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Nov 2008]
PHENOTYPE: Homozygous targeted mutants display deficient long-term hippocampal potentiation (LTP) and specific impairment in spatial learning; heterozygotes show decreased fear response and increased defensive aggression, which is more pronounced in homozygotes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,891,939 (GRCm39)	Q67L	probably benign	Het
Adam34l	T	A	8: 44,080,116 (GRCm39)	Y36F	probably benign	Het
Adrb1	A	G	19: 56,711,206 (GRCm39)	T135A	probably damaging	Het
Ark2n	T	A	18: 77,762,186 (GRCm39)	Q42L	probably benign	Het
Asxl2	G	T	12: 3,477,193 (GRCm39)	W13L	probably damaging	Het
Atp4a	G	A	7: 30,419,650 (GRCm39)	R671Q	probably benign	Het
Brsk1	T	C	7: 4,710,298 (GRCm39)	S436P	possibly damaging	Het
Calb2	A	G	8: 110,894,709 (GRCm39)	F21L	probably benign	Het
Cavin2	T	C	1: 51,340,510 (GRCm39)	S396P	probably benign	Het
Cfdp1	A	G	8: 112,557,577 (GRCm39)	F188S	probably benign	Het
Chek2	T	A	5: 111,014,908 (GRCm39)	V459D	probably damaging	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Cobl	A	G	11: 12,203,672 (GRCm39)	V1003A	probably benign	Het
Ctsll3	A	G	13: 60,947,416 (GRCm39)	F257L	possibly damaging	Het
Dnajc13	A	C	9: 104,084,957 (GRCm39)	F819V	probably damaging	Het
Dram1	C	A	10: 88,161,246 (GRCm39)	V208L	probably damaging	Het
Dynlt1b	A	G	17: 6,699,279 (GRCm39)	T10A	probably benign	Het
Eml6	A	T	11: 29,727,390 (GRCm39)	V1244E	probably damaging	Het
Ethe1	G	A	7: 24,293,405 (GRCm39)	S17N	probably benign	Het
Foxi1	T	C	11: 34,157,578 (GRCm39)	D149G	probably damaging	Het
Fzd9	T	C	5: 135,278,475 (GRCm39)	E470G	probably damaging	Het
Ggnbp2	A	G	11: 84,753,072 (GRCm39)	F56L	probably damaging	Het
Hao1	G	A	2: 134,364,947 (GRCm39)	R227*	probably null	Het
Hyal1	G	A	9: 107,456,420 (GRCm39)	R369H	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kcna2	T	A	3: 107,012,733 (GRCm39)	I438N	probably benign	Het
Lrp1	A	T	10: 127,388,054 (GRCm39)	C3331*	probably null	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Mroh9	C	T	1: 162,883,162 (GRCm39)	C439Y	probably damaging	Het
N4bp2l2	T	C	5: 150,574,160 (GRCm39)	D85G	probably damaging	Het
Nr1h2	A	G	7: 44,199,855 (GRCm39)	Y355H	probably damaging	Het
Nr5a2	T	C	1: 136,868,167 (GRCm39)	I322V	probably benign	Het
Nup153	A	C	13: 46,840,750 (GRCm39)	L273V	possibly damaging	Het
Obscn	A	G	11: 58,890,422 (GRCm39)	L7370P	unknown	Het
Or1a1	T	C	11: 74,086,542 (GRCm39)	I71T	probably damaging	Het
Or4b1	T	A	2: 89,980,222 (GRCm39)	I43F	probably damaging	Het
Or5k15	A	G	16: 58,710,287 (GRCm39)	C99R	probably damaging	Het
Prkdc	G	A	16: 15,551,916 (GRCm39)	D2041N	probably damaging	Het
Ptdss1	A	G	13: 67,081,675 (GRCm39)	D35G	possibly damaging	Het
Ptprs	G	T	17: 56,724,666 (GRCm39)	T1118K	probably damaging	Het
Pygb	C	T	2: 150,657,036 (GRCm39)	T329I	probably benign	Het
Rhoh	T	A	5: 66,050,157 (GRCm39)	D142E	probably benign	Het
Saraf	C	A	8: 34,635,616 (GRCm39)	A306E	probably damaging	Het
Scn1a	T	C	2: 66,181,332 (GRCm39)	I64V	probably benign	Het
Sec16a	A	G	2: 26,320,582 (GRCm39)	W1333R	probably damaging	Het
Shroom1	A	T	11: 53,357,289 (GRCm39)	T651S	possibly damaging	Het
Skint3	C	A	4: 112,134,863 (GRCm39)	Y345*	probably null	Het
Slc1a7	T	A	4: 107,864,751 (GRCm39)	N263K	probably damaging	Het
Sptbn2	C	T	19: 4,789,267 (GRCm39)	R1236C	probably damaging	Het
Tbx21	T	C	11: 96,992,393 (GRCm39)	N226S	probably benign	Het
Thada	A	G	17: 84,743,078 (GRCm39)	L782P	probably damaging	Het
Tle1	T	G	4: 72,055,335 (GRCm39)	I446L	possibly damaging	Het
Trgv1	T	A	13: 19,524,503 (GRCm39)	L76I	possibly damaging	Het
Triobp	A	G	15: 78,877,469 (GRCm39)	D1621G	probably damaging	Het
Trpm2	G	C	10: 77,773,972 (GRCm39)	A481G	probably benign	Het
Unc80	A	T	1: 66,685,595 (GRCm39)	M2240L	probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Homo
Vangl1	T	C	3: 102,074,238 (GRCm39)	T290A	probably benign	Het
Vmn1r233	T	A	17: 21,214,393 (GRCm39)	I186F	probably benign	Het
Vmn2r102	G	A	17: 19,901,424 (GRCm39)	C517Y	probably damaging	Het
Vrk2	G	A	11: 26,421,611 (GRCm39)	T449M	possibly damaging	Het
Zfp518a	A	G	19: 40,900,304 (GRCm39)	S78G	probably benign	Het
Zscan25	T	C	5: 145,223,120 (GRCm39)	S131P	unknown	Het
Zscan29	G	A	2: 120,997,096 (GRCm39)	T140I	probably benign	Het

Other mutations in Camk2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01071:Camk2a	APN	18	61,113,228 (GRCm39)	critical splice donor site	probably null
IGL01707:Camk2a	APN	18	61,093,122 (GRCm39)	splice site	probably null
IGL02117:Camk2a	APN	18	61,111,061 (GRCm39)	missense	probably damaging	0.99
frantic	UTSW	18	61,097,000 (GRCm39)	nonsense	probably null
R0003:Camk2a	UTSW	18	61,093,079 (GRCm39)	missense	probably damaging	0.99
R0373:Camk2a	UTSW	18	61,091,310 (GRCm39)	missense	probably damaging	0.98
R0589:Camk2a	UTSW	18	61,097,036 (GRCm39)	critical splice donor site	probably null
R1135:Camk2a	UTSW	18	61,090,468 (GRCm39)	critical splice donor site	probably null
R1199:Camk2a	UTSW	18	61,085,396 (GRCm39)	nonsense	probably null
R2159:Camk2a	UTSW	18	61,090,257 (GRCm39)	missense	probably damaging	1.00
R2291:Camk2a	UTSW	18	61,097,031 (GRCm39)	missense	probably damaging	1.00
R4022:Camk2a	UTSW	18	61,097,000 (GRCm39)	nonsense	probably null
R4664:Camk2a	UTSW	18	61,088,696 (GRCm39)	missense	possibly damaging	0.91
R4859:Camk2a	UTSW	18	61,076,246 (GRCm39)	intron	probably benign
R5119:Camk2a	UTSW	18	61,076,208 (GRCm39)	intron	probably benign
R5291:Camk2a	UTSW	18	61,090,236 (GRCm39)	missense	probably damaging	1.00
R5503:Camk2a	UTSW	18	61,111,072 (GRCm39)	missense	probably damaging	0.99
R5874:Camk2a	UTSW	18	61,076,272 (GRCm39)	intron	probably benign
R5997:Camk2a	UTSW	18	61,111,029 (GRCm39)	missense	probably damaging	1.00
R6109:Camk2a	UTSW	18	61,076,306 (GRCm39)	nonsense	probably null
R6772:Camk2a	UTSW	18	61,102,092 (GRCm39)	missense	probably benign	0.21
R6939:Camk2a	UTSW	18	61,091,226 (GRCm39)	missense	probably damaging	1.00
R6977:Camk2a	UTSW	18	61,093,076 (GRCm39)	missense	probably damaging	1.00
R6993:Camk2a	UTSW	18	61,076,247 (GRCm39)	intron	probably benign
R7247:Camk2a	UTSW	18	61,076,277 (GRCm39)	missense	unknown
R7625:Camk2a	UTSW	18	61,085,412 (GRCm39)	missense	probably damaging	0.97
R7900:Camk2a	UTSW	18	61,090,438 (GRCm39)	missense	probably damaging	1.00
R9131:Camk2a	UTSW	18	61,076,327 (GRCm39)	missense	unknown
R9513:Camk2a	UTSW	18	61,088,607 (GRCm39)	critical splice acceptor site	probably null
R9794:Camk2a	UTSW	18	61,097,031 (GRCm39)	missense	probably benign
X0020:Camk2a	UTSW	18	61,093,109 (GRCm39)	missense	possibly damaging	0.89
X0026:Camk2a	UTSW	18	61,085,208 (GRCm39)	missense	possibly damaging	0.87
Z1088:Camk2a	UTSW	18	61,076,222 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCATGAGGCCAAGGATCTG -3'
(R):5'- GCCTCTTAGCCTGCCAATACTG -3'

Sequencing Primer
(F):5'- CCGTGACATAGGTGACTGCAATG -3'
(R):5'- AATACTGTCTCCCAGGGGTCAAG -3'

Posted On

2015-10-08