Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01969:Prkd2'

181626

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prkd2

Ensembl Gene

ENSMUSG00000041187

Gene Name

protein kinase D2

Synonyms

PKD2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01969

Quality Score

Status

Chromosome

Chromosomal Location

16842902-16870464 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16865757 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 715 (T715M)

Ref Sequence

ENSEMBL: ENSMUSP00000131192 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000086104
AA Change: T715M

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

SMART Domains

Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: T715M

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

probably damaging
Transcript: ENSMUST00000168093
AA Change: T715M

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

SMART Domains

Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: T715M

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: ENSMUST00000205798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206510

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	C	A	8: 123,480,431	P74H	probably damaging	Het
Aire	T	A	10: 78,042,982	D77V	probably damaging	Het
Ank2	T	A	3: 126,953,223	H571L	possibly damaging	Het
Apol10b	T	C	15: 77,588,685		probably null	Het
Cacna2d2	A	T	9: 107,509,216	M181L	probably benign	Het
Ccnl1	T	C	3: 65,948,487		probably benign	Het
Chd9	A	G	8: 91,033,510	E1961G	possibly damaging	Het
Dnajc12	C	A	10: 63,395,830	H42N	probably damaging	Het
Eml4	T	C	17: 83,445,980	V248A	possibly damaging	Het
Epha10	A	C	4: 124,885,877	K172T	probably damaging	Het
Fat1	T	C	8: 44,952,599	Y796H	probably damaging	Het
Gpr176	A	C	2: 118,279,637	F380L	probably damaging	Het
Guca1a	A	T	17: 47,400,343	M26K	probably damaging	Het
Gucy2g	T	G	19: 55,227,438	M501L	probably benign	Het
Herc2	T	C	7: 56,185,831		probably benign	Het
Itgav	A	G	2: 83,803,283	E1028G	probably damaging	Het
Itpr1	A	G	6: 108,377,691	T179A	probably damaging	Het
Lpin2	A	G	17: 71,231,507	T383A	probably benign	Het
Midn	A	G	10: 80,155,259	T325A	probably benign	Het
Mpdz	A	G	4: 81,358,724	Y788H	probably damaging	Het
Muc1	A	T	3: 89,232,006	D571V	probably damaging	Het
Myo3a	A	T	2: 22,297,688	H316L	probably benign	Het
Nagpa	T	C	16: 5,195,889	K362E	probably benign	Het
Ola1	G	A	2: 73,100,146	A266V	probably benign	Het
Olfr1256	A	G	2: 89,835,720	I75T	probably benign	Het
Olfr1447	C	A	19: 12,901,052	A243S	possibly damaging	Het
Olfr393	T	C	11: 73,847,609	N172S	possibly damaging	Het
Otof	A	G	5: 30,382,483		probably benign	Het
Pi4ka	A	C	16: 17,378,483	V105G	probably benign	Het
Plppr4	G	T	3: 117,328,359	T190K	probably damaging	Het
Pnpla3	G	A	15: 84,179,224	A268T	probably benign	Het
Ppp6r2	C	T	15: 89,275,510	H467Y	probably damaging	Het
Rusc2	A	G	4: 43,415,738	N348S	probably benign	Het
Ska3	A	G	14: 57,811,662	V284A	probably benign	Het
Slc23a1	A	T	18: 35,624,754	V199D	possibly damaging	Het
Slc6a13	T	C	6: 121,335,642	L445P	probably damaging	Het
Smo	A	T	6: 29,755,172		probably null	Het
Tmem131	A	G	1: 36,825,460	L564S	possibly damaging	Het
Ttc23l	G	A	15: 10,551,434	Q69*	probably null	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
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
R2042:Prkd2	UTSW	7	16856268	missense	possibly damaging	0.86
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
R7983:Prkd2	UTSW	7	16853344	missense	probably benign	0.01
X0062:Prkd2	UTSW	7	16855791	missense	probably benign	0.01

Posted On

2014-05-07