Mutagenetix > Incidental Mutations

Incidental Mutation 'R8304:Dapk2'

639392

Institutional Source

Beutler Lab

Gene Symbol

Dapk2

Ensembl Gene

ENSMUSG00000032380

Gene Name

death-associated protein kinase 2

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8304 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

66158223-66272242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 66231745 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 116 (A116V)

Ref Sequence

ENSEMBL: ENSMUSP00000034944 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034944]

PDB Structure

CRYSTAL STRUCTURE OF THE AUTOINHIBITED FORM OF MOUSE DAPK2 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE AUTOINHIBITED FORM OF MOUSE DAPK2 IN COMPLEX WITH ATP [X-RAY DIFFRACTION]
Crystal structure of the autoinhibited form of mouse DAPK2 in complex with AMP [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034944
AA Change: A116V

PolyPhen 2 Score 0.549 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000034944
Gene: ENSMUSG00000032380
AA Change: A116V

Domain	Start	End	E-Value	Type
S_TKc	23	285	6.26e-98	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117134
Gene: ENSMUSG00000032380
AA Change: A14V

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	52	2e-14	PFAM
Pfam:Pkinase_Tyr	1	53	1.7e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (58/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,107,128		probably null	Het
Akap11	T	C	14: 78,513,232	T572A		Het
Amigo2	A	T	15: 97,246,157	L128Q	probably damaging	Het
Ankrd12	A	G	17: 65,984,547	I1297T	possibly damaging	Het
Arhgap32	T	A	9: 32,255,937	C623*	probably null	Het
Armc2	T	C	10: 41,947,939	Y511C	probably damaging	Het
Asb15	C	T	6: 24,559,297	P147L	possibly damaging	Het
Caprin1	G	T	2: 103,769,517	N604K	probably damaging	Het
Ccnl2	T	C	4: 155,813,222	F113L	probably benign	Het
Cltc	C	T	11: 86,725,261	R393H	probably benign	Het
Cul4a	G	A	8: 13,127,727	C289Y	possibly damaging	Het
Cyp4a29	T	A	4: 115,254,456	F477I	probably damaging	Het
Ddx60	T	C	8: 61,998,769	I1231T	possibly damaging	Het
Eif5b	A	G	1: 38,045,693	I874V	probably benign	Het
Eral1	A	T	11: 78,076,002	S196T	probably damaging	Het
Erc2	T	G	14: 27,653,165	D113E	probably damaging	Het
Galm	A	G	17: 80,183,337	T308A	probably damaging	Het
Gm626	A	G	14: 33,552,109	I1103V	possibly damaging	Het
Helz2	A	T	2: 181,230,157	N2650K	probably benign	Het
Herc2	A	G	7: 56,159,438	D2562G	probably damaging	Het
Hmmr	G	A	11: 40,721,672	S206F	probably damaging	Het
Hspbap1	T	A	16: 35,787,325	L67*	probably null	Het
Irx3	T	A	8: 91,800,206	D290V	probably damaging	Het
Kcns1	A	T	2: 164,168,102	Y246N	probably damaging	Het
Kidins220	A	G	12: 25,057,128	T1557A	probably benign	Het
Lrriq1	T	C	10: 103,234,068	N29S	possibly damaging	Het
Mmp24	T	C	2: 155,799,839	F196L	possibly damaging	Het
Mroh2b	T	C	15: 4,925,637	V704A	probably damaging	Het
Mst1	A	G	9: 108,081,604	M112V	probably benign	Het
Myh8	C	A	11: 67,304,336	H1659N	possibly damaging	Het
Nlgn1	C	T	3: 26,133,385	C117Y	probably damaging	Het
Olfr110	A	T	17: 37,499,370	T240S	probably damaging	Het
Olfr456	C	T	6: 42,486,738	V152I	probably benign	Het
Olfr561	A	G	7: 102,774,710	Y62C	possibly damaging	Het
Olfr983	A	T	9: 40,092,354	I204N	probably damaging	Het
Opa1	C	T	16: 29,597,671	T237M	possibly damaging	Het
P3h1	C	T	4: 119,247,205	T641M	probably damaging	Het
Pak7	T	C	2: 136,098,283	H537R	probably benign	Het
Ppp1r12b	A	T	1: 134,896,363	L174Q	possibly damaging	Het
Prkg1	A	G	19: 30,724,184	V326A	possibly damaging	Het
Psmb3	T	A	11: 97,711,169	C122S	probably benign	Het
Sh3bgrl3	C	A	4: 134,128,001	A45S	probably benign	Het
Slc25a47	T	C	12: 108,855,942	V219A	possibly damaging	Het
Slfn9	A	C	11: 82,982,779	S433A	probably benign	Het
Spata13	A	T	14: 60,756,508	R1136S	possibly damaging	Het
Stab1	C	A	14: 31,148,954	A1313S	probably benign	Het
Stim1	G	A	7: 102,435,481	A547T	possibly damaging	Het
Taf5l	A	T	8: 124,003,512	I146N	probably benign	Het
Tbc1d12	A	T	19: 38,837,380	E225V	possibly damaging	Het
Tesc	T	C	5: 118,056,430	Y135H	probably benign	Het
Tfg	T	C	16: 56,701,218	E145G	possibly damaging	Het
Tg	T	A	15: 66,693,260	C1150*	probably null	Het
Tmtc1	T	C	6: 148,271,385	N616S	probably damaging	Het
Trpm7	A	T	2: 126,797,877	W1600R	probably damaging	Het
Ttc17	A	T	2: 94,369,181		probably benign	Het
Zfand1	A	T	3: 10,348,555	L24*	probably null	Het
Zfp282	AGCGGCGGCGGCGGCGGC	AGCGGCGGCGGCGGC	6: 47,904,788		probably benign	Het
Zfp770	A	C	2: 114,197,410	F59L	probably damaging	Het

Other mutations in Dapk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Dapk2	APN	9	66268778	splice site	probably benign
IGL01304:Dapk2	APN	9	66231857	splice site	probably benign
IGL02053:Dapk2	APN	9	66220745	missense	probably benign	0.02
IGL02351:Dapk2	APN	9	66246523	missense	probably damaging	0.99
IGL02358:Dapk2	APN	9	66246523	missense	probably damaging	0.99
IGL02736:Dapk2	APN	9	66268916	missense	probably benign
IGL02742:Dapk2	APN	9	66231814	missense	probably damaging	1.00
PIT4618001:Dapk2	UTSW	9	66268686	missense	probably benign	0.01
R0367:Dapk2	UTSW	9	66268886	missense	probably damaging	0.99
R1375:Dapk2	UTSW	9	66220643	missense	probably damaging	0.97
R1376:Dapk2	UTSW	9	66220643	missense	probably damaging	0.97
R1376:Dapk2	UTSW	9	66220643	missense	probably damaging	0.97
R1752:Dapk2	UTSW	9	66220643	missense	probably damaging	0.97
R1924:Dapk2	UTSW	9	66165360	missense	probably benign	0.05
R1981:Dapk2	UTSW	9	66268898	missense	probably benign	0.00
R3160:Dapk2	UTSW	9	66254611	missense	probably damaging	0.99
R3161:Dapk2	UTSW	9	66254611	missense	probably damaging	0.99
R3162:Dapk2	UTSW	9	66254611	missense	probably damaging	0.99
R3162:Dapk2	UTSW	9	66254611	missense	probably damaging	0.99
R5394:Dapk2	UTSW	9	66268718	missense	probably benign	0.00
R6750:Dapk2	UTSW	9	66220752	missense	probably damaging	1.00
R6951:Dapk2	UTSW	9	66254622	missense	probably benign	0.01
R6952:Dapk2	UTSW	9	66254622	missense	probably benign	0.01
R6953:Dapk2	UTSW	9	66254622	missense	probably benign	0.01
Z1088:Dapk2	UTSW	9	66246477	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- AGAGGCCTTTCTGGGATCAG -3'
(R):5'- TTCCTATCAATGGCAAGGGCAC -3'

Sequencing Primer
(F):5'- GGATCAGCCTCGTAGTGATTC -3'
(R):5'- AAGGGCACAGGGTCCCTTC -3'

Posted On

2020-07-28