Mutagenetix > Incidental Mutation

Incidental Mutation 'R1981:Dapk2'

222344

Institutional Source

Beutler Lab

Gene Symbol

Dapk2

Ensembl Gene

ENSMUSG00000032380

Gene Name

death-associated protein kinase 2

Synonyms

MMRRC Submission

039993-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1981 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

66158223-66272242 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66268898 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 327 (H327R)

Ref Sequence

ENSEMBL: ENSMUSP00000034944 (fasta)

Gene Model

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

AlphaFold

Q8VDF3

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

probably benign
Transcript: ENSMUST00000034944
AA Change: H327R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034944
Gene: ENSMUSG00000032380
AA Change: H327R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129778

Predicted Effect

probably benign
Transcript: ENSMUST00000132987

SMART Domains

Protein: ENSMUSP00000117134
Gene: ENSMUSG00000032380

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

Meta Mutation Damage Score

0.1194

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930415L06Rik	A	T	X: 89,931,445	V382E	probably damaging	Het
Anks1	T	C	17: 27,985,121	V181A	probably damaging	Het
Aqp4	T	C	18: 15,393,551	D291G	probably damaging	Het
Atad1	G	T	19: 32,695,810	D224E	probably benign	Het
Atp1a3	T	G	7: 25,000,975	E33A	probably benign	Het
Baz2b	A	G	2: 59,923,680	F1100L	possibly damaging	Het
Car7	C	T	8: 104,548,377		probably benign	Het
Casp8	C	A	1: 58,828,962		probably null	Het
Cdh23	A	T	10: 60,378,751	L1495H	probably damaging	Het
Ceacam9	T	G	7: 16,725,307	L177R	probably benign	Het
Col16a1	C	G	4: 130,065,443	P346A	unknown	Het
Cyp2c29	A	G	19: 39,307,772		probably null	Het
Cyp3a13	T	C	5: 137,911,856	S139G	probably damaging	Het
Ddx19b	T	C	8: 111,009,343	T357A	possibly damaging	Het
Dnah2	A	G	11: 69,474,325	Y1944H	probably damaging	Het
Dnaic2	T	A	11: 114,732,929	V6E	probably damaging	Het
Eipr1	T	C	12: 28,863,025	Y242H	probably damaging	Het
Fam149a	T	G	8: 45,381,741	D7A	probably damaging	Het
Fam217a	T	A	13: 34,916,754	D140V	probably benign	Het
Fat4	G	A	3: 38,991,664	C3944Y	probably damaging	Het
Fezf2	G	T	14: 12,344,405	P261T	probably benign	Het
Gcsam	A	T	16: 45,619,974	T127S	probably damaging	Het
Git2	C	T	5: 114,749,559		probably benign	Het
Gm1527	T	C	3: 28,915,835		probably null	Het
Gm7030	T	A	17: 36,128,722	D122V	probably damaging	Het
Gtf3c1	A	G	7: 125,644,272	L1720P	possibly damaging	Het
Hat1	A	G	2: 71,389,977	T28A	probably benign	Het
Igf2r	G	A	17: 12,733,903	Q219*	probably null	Het
Impdh1	T	A	6: 29,206,451	D129V	possibly damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906	74	probably benign	Het
Ltbp3	A	G	19: 5,758,079	Q1250R	probably benign	Het
Mansc4	T	A	6: 147,075,675	I148F	probably benign	Het
Mast2	T	C	4: 116,314,840	Y569C	probably damaging	Het
Mcoln3	A	T	3: 146,140,590	K552*	probably null	Het
Mctp2	T	C	7: 72,164,698	Q601R	probably benign	Het
Mei1	A	G	15: 82,103,312	N859S	probably benign	Het
Myo19	A	T	11: 84,892,170	Q170L	possibly damaging	Het
Myo1h	T	C	5: 114,353,837	F676S	probably damaging	Het
Myo9a	A	G	9: 59,894,146	T1876A	probably benign	Het
Nav3	G	T	10: 109,719,090		probably benign	Het
Ndor1	T	C	2: 25,255,224	Y43C	probably damaging	Het
Nlrp1a	A	G	11: 71,098,938	V1102A	probably damaging	Het
Nmnat3	T	C	9: 98,410,299	I199T	possibly damaging	Het
Nsun7	T	C	5: 66,261,214	S96P	probably damaging	Het
Ntng1	A	G	3: 109,935,010	V149A	possibly damaging	Het
Oas3	T	C	5: 120,761,835		probably benign	Het
Olfr1055	A	T	2: 86,347,142	I208N	possibly damaging	Het
Olfr1297	T	A	2: 111,621,241	I278F	probably benign	Het
Olfr1350	A	G	7: 6,570,558	D189G	probably benign	Het
Olfr1418	T	G	19: 11,855,007	Q315H	possibly damaging	Het
Olfr147	T	C	9: 38,403,735	L287P	probably damaging	Het
Olfr5	T	C	7: 6,480,932	M75V	probably benign	Het
Pax2	G	A	19: 44,818,465	D301N	probably damaging	Het
Pcsk4	T	A	10: 80,325,779	E176V	probably damaging	Het
Pkhd1	G	A	1: 20,117,060	P3675S	probably benign	Het
Plekho2	A	T	9: 65,558,692	L138Q	probably damaging	Het
Prkcsh	A	G	9: 22,012,868	D458G	probably damaging	Het
Prr11	T	A	11: 87,103,290	D100V	probably damaging	Het
Qars	A	G	9: 108,515,028	N136D	probably damaging	Het
Rbm15b	A	G	9: 106,881,623		probably benign	Het
Rel	C	T	11: 23,742,761	G424D	probably benign	Het
Rsrc1	A	G	3: 67,350,005	D250G	probably benign	Het
Samt3	A	C	X: 86,047,134	M211L	probably benign	Het
Scn2a	C	A	2: 65,690,170	N503K	probably damaging	Het
Sh2d6	G	A	6: 72,517,544		probably benign	Het
Smg8	T	C	11: 87,085,331	T475A	probably benign	Het
Ssxb10	A	G	X: 8,331,019	D77G	probably benign	Het
Tbx20	T	A	9: 24,770,913	K48N	possibly damaging	Het
Tead1	C	A	7: 112,891,745	D231E	probably benign	Het
Ticam1	C	T	17: 56,271,555	R180H	probably damaging	Het
Tjp1	A	T	7: 65,312,855	F1111L	probably damaging	Het
Tlr11	T	A	14: 50,361,988	I477K	possibly damaging	Het
Ttc13	A	G	8: 124,714,187		probably null	Het
Ttc17	T	C	2: 94,326,704	N411S	probably benign	Het
Usp15	T	A	10: 123,125,041		probably benign	Het
Usp18	A	G	6: 121,252,517	K32E	probably benign	Het
Vmn1r12	A	T	6: 57,159,661	M248L	probably benign	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp930	T	A	8: 69,228,172	L172H	probably damaging	Het
Zfp976	G	A	7: 42,613,622	H264Y	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
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
R8304:Dapk2	UTSW	9	66231745	missense	possibly damaging	0.55
R8987:Dapk2	UTSW	9	66250320	intron	probably benign
Z1088:Dapk2	UTSW	9	66246477	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- TATGGTACGCAGAGAGTCCGTG -3'
(R):5'- AAGGGTTCCTAATGGTCCCC -3'

Sequencing Primer
(F):5'- CCGTGGTCAACCTGGAGAATTTTAAG -3'
(R):5'- GGTCACACTTCAGCCTTCAGG -3'

Posted On

2014-08-25