Mutagenetix > Incidental Mutations

Incidental Mutation 'R2042:Prkd2'

225061

Institutional Source

Beutler Lab

Gene Symbol

Prkd2

Ensembl Gene

ENSMUSG00000041187

Gene Name

protein kinase D2

Synonyms

PKD2

MMRRC Submission

040049-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2042 (G1)

Quality Score

191

Status

Validated

Chromosome

Chromosomal Location

16842902-16870464 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16856268 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 530 (S530P)

Ref Sequence

ENSEMBL: ENSMUSP00000131192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086104] [ENSMUST00000168093]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000086104
AA Change: S530P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: S530P

Domain	Start	End	E-Value	Type
low complexity region	2	43	N/A	INTRINSIC
C1	139	188	2.87e-11	SMART
C1	266	315	1.28e-17	SMART
low complexity region	353	373	N/A	INTRINSIC
PH	399	512	2.07e-6	SMART
S_TKc	552	808	6.12e-92	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168093
AA Change: S530P

PolyPhen 2 Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: S530P

Domain	Start	End	E-Value	Type
low complexity region	2	43	N/A	INTRINSIC
C1	139	188	2.87e-11	SMART
C1	266	315	1.28e-17	SMART
low complexity region	353	373	N/A	INTRINSIC
PH	399	512	2.07e-6	SMART
S_TKc	552	808	6.12e-92	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205456

Meta Mutation Damage Score

0.0603

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired IgM and IgG1 antigen responses and CD4+ and CD8+ T cell production of IL2 and IFN-gamma in response to TCR stimulation. Mice homozygous for a gene trap allele exhibit normal T lymphocyte maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	A	3: 124,416,728		probably benign	Het
9130019O22Rik	A	T	7: 127,385,469	C154S	possibly damaging	Het
Abca16	G	A	7: 120,544,718	R1653Q	probably benign	Het
Ahnak2	T	A	12: 112,785,819	Y176F	probably damaging	Het
Ano6	T	C	15: 95,956,023		probably null	Het
Atr	T	C	9: 95,870,022	L564S	probably benign	Het
Birc6	C	G	17: 74,609,659	A1774G	probably damaging	Het
Cacng1	C	T	11: 107,704,308	A148T	probably damaging	Het
Cd53	T	A	3: 106,767,424		probably null	Het
Celsr2	A	G	3: 108,402,495	F1596S	probably damaging	Het
Cep120	A	T	18: 53,735,742	F122I	possibly damaging	Het
Ckm	A	T	7: 19,414,157	H7L	possibly damaging	Het
Crybg2	T	C	4: 134,087,533	V1575A	possibly damaging	Het
Cspp1	A	G	1: 10,112,538	E712G	probably damaging	Het
Cyp2b23	C	A	7: 26,666,108	R434L	probably damaging	Het
D630003M21Rik	A	T	2: 158,215,849	S570T	probably damaging	Het
Dmbt1	A	G	7: 131,106,359	I1444V	probably damaging	Het
Dnah8	T	C	17: 30,635,658	V98A	probably benign	Het
Dtx1	T	G	5: 120,694,476	N299T	probably benign	Het
Efr3b	T	A	12: 3,984,627	D65V	probably damaging	Het
Eml4	T	C	17: 83,448,178	C323R	probably damaging	Het
Eps15	C	T	4: 109,304,767	T31I	probably damaging	Het
Fam160a2	G	T	7: 105,384,121	Y629*	probably null	Het
Fam205c	C	T	4: 42,874,030	C46Y	possibly damaging	Het
Fam46b	T	C	4: 133,486,613	V265A	possibly damaging	Het
Fam91a1	A	G	15: 58,426,594	I184V	probably benign	Het
Fbxl8	A	T	8: 105,268,224	I123F	probably damaging	Het
Fbxw26	T	G	9: 109,732,704	T141P	probably damaging	Het
Glra3	G	A	8: 56,062,459	D190N	probably benign	Het
Hspg2	T	C	4: 137,568,366	L4229P	probably damaging	Het
Ipmk	C	T	10: 71,363,503	R65W	probably damaging	Het
Irs2	A	G	8: 11,007,580	I284T	probably damaging	Het
Klhl22	T	C	16: 17,792,420		probably benign	Het
Lmcd1	T	A	6: 112,315,890	D234E	probably benign	Het
Lrrc14b	T	C	13: 74,363,442	K173R	probably benign	Het
Magi1	A	T	6: 93,755,045	N209K	probably benign	Het
Mak	A	C	13: 41,049,436	S179A	possibly damaging	Het
Map3k4	C	A	17: 12,277,983	R87L	probably damaging	Het
Map4k1	T	C	7: 28,984,130	L53P	probably damaging	Het
Melk	T	C	4: 44,309,051		probably null	Het
Mks1	C	T	11: 87,856,668		probably benign	Het
Mrgpra2b	C	T	7: 47,464,160	V249I	probably benign	Het
N4bp2	C	T	5: 65,826,621	P1670S	probably damaging	Het
Ncf1	C	G	5: 134,226,640	Q132H	probably benign	Het
Nemp1	T	C	10: 127,696,334	S370P	possibly damaging	Het
Nt5c3b	T	C	11: 100,436,194	H92R	probably benign	Het
Olfr1180	G	A	2: 88,412,202	A152V	possibly damaging	Het
Olfr527	T	C	7: 140,335,937	L25P	probably damaging	Het
P4ha3	T	C	7: 100,300,690		probably null	Het
Pcnx	C	A	12: 81,918,293	H411Q	probably damaging	Het
Podxl	A	G	6: 31,523,116	V473A	possibly damaging	Het
Scin	A	G	12: 40,077,510	I427T	possibly damaging	Het
Sgo2b	T	C	8: 63,928,527	T424A	probably benign	Het
Slc22a2	T	C	17: 12,599,125	I196T	probably benign	Het
Slc47a2	C	A	11: 61,338,082	V90L	probably benign	Het
Slc4a7	G	A	14: 14,737,386	V99M	probably damaging	Het
Sprr2k	T	C	3: 92,433,456		probably benign	Het
Spta1	G	A	1: 174,211,647	M1185I	probably benign	Het
Uaca	T	C	9: 60,869,891	V518A	probably damaging	Het
Ubr3	C	T	2: 69,977,774	Q1200*	probably null	Het
Ufm1	A	G	3: 53,859,281		probably benign	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp142	G	A	1: 74,570,619	T1236I	probably benign	Het
Zfp236	A	G	18: 82,633,109	Y845H	probably damaging	Het
Zfp787	T	C	7: 6,132,764	K163E	possibly damaging	Het

Other mutations in Prkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Prkd2	APN	7	16865862	missense	probably damaging	1.00
IGL01138:Prkd2	APN	7	16848811	missense	probably damaging	1.00
IGL01714:Prkd2	APN	7	16863942	missense	probably damaging	1.00
IGL01968:Prkd2	APN	7	16869576	splice site	probably null
IGL01969:Prkd2	APN	7	16865757	missense	probably damaging	1.00
IGL02354:Prkd2	APN	7	16847658	missense	probably damaging	1.00
IGL02361:Prkd2	APN	7	16847658	missense	probably damaging	1.00
IGL02504:Prkd2	APN	7	16857832	missense	probably damaging	1.00
IGL02804:Prkd2	APN	7	16855890	missense	probably benign	0.04
IGL02834:Prkd2	APN	7	16845934	missense	probably damaging	0.97
IGL02962:Prkd2	APN	7	16869832	missense	probably benign	0.01
IGL03053:Prkd2	APN	7	16850263	missense	possibly damaging	0.63
IGL03168:Prkd2	APN	7	16850263	missense	possibly damaging	0.63
alila	UTSW	7	16847654	missense	probably damaging	1.00
Beaches	UTSW	7	16849203	nonsense	probably null
Purnama	UTSW	7	16869565	missense	probably damaging	1.00
Sandals	UTSW	7	16865714	missense	probably damaging	1.00
R0024:Prkd2	UTSW	7	16847643	missense	probably damaging	1.00
R0173:Prkd2	UTSW	7	16849044	missense	probably benign
R0190:Prkd2	UTSW	7	16869890	missense	probably damaging	1.00
R0834:Prkd2	UTSW	7	16865677	splice site	probably benign
R1418:Prkd2	UTSW	7	16869545	missense	probably benign	0.03
R1488:Prkd2	UTSW	7	16858439	missense	probably damaging	1.00
R1648:Prkd2	UTSW	7	16857807	missense	possibly damaging	0.51
R2015:Prkd2	UTSW	7	16847677	nonsense	probably null
R2101:Prkd2	UTSW	7	16869565	missense	probably damaging	1.00
R3884:Prkd2	UTSW	7	16853255	missense	probably benign	0.02
R4601:Prkd2	UTSW	7	16843648	unclassified	probably benign
R4979:Prkd2	UTSW	7	16848727	missense	probably damaging	1.00
R5240:Prkd2	UTSW	7	16855786	missense	probably benign	0.09
R5643:Prkd2	UTSW	7	16843792	missense	probably benign	0.02
R5994:Prkd2	UTSW	7	16850336	missense	probably benign	0.00
R6033:Prkd2	UTSW	7	16865714	missense	probably damaging	1.00
R6033:Prkd2	UTSW	7	16865714	missense	probably damaging	1.00
R6361:Prkd2	UTSW	7	16847654	missense	probably damaging	1.00
R6738:Prkd2	UTSW	7	16865905	missense	possibly damaging	0.64
R6798:Prkd2	UTSW	7	16849203	nonsense	probably null
R6815:Prkd2	UTSW	7	16843793	missense	probably benign	0.00
R7241:Prkd2	UTSW	7	16857805	missense	probably benign	0.44
R7293:Prkd2	UTSW	7	16845940	missense	possibly damaging	0.88
R7323:Prkd2	UTSW	7	16847622	missense	probably benign	0.07
R7900:Prkd2	UTSW	7	16853344	missense	probably benign	0.01
R7943:Prkd2	UTSW	7	16850319	missense	probably benign	0.30
X0062:Prkd2	UTSW	7	16855791	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATCGTGAGGTCCCATATGGAG -3'
(R):5'- TTCCACGCTGAATGGGAGAC -3'

Sequencing Primer
(F):5'- CATATGGAGCCTCTGGTACAACTG -3'
(R):5'- AGTGATTCACTGCAACCTGG -3'

Posted On

2014-08-25