Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01968:Prkd2'

181606

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prkd2

Ensembl Gene

ENSMUSG00000041187

Gene Name

protein kinase D2

Synonyms

PKD2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01968

Quality Score

Status

Chromosome

Chromosomal Location

16576827-16604386 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

G to T at 16603501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131192 (fasta)

Gene Model

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

AlphaFold

Q8BZ03

Predicted Effect

probably null
Transcript: ENSMUST00000086104

SMART Domains

Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187

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 null
Transcript: ENSMUST00000086104

SMART Domains

Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187

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 null
Transcript: ENSMUST00000168093

SMART Domains

Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187

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: ENSMUST00000181501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205647

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	G	5: 8,977,913 (GRCm39)	D497G	probably benign	Het
Adgra2	A	T	8: 27,611,263 (GRCm39)	R856*	probably null	Het
Cfap90	T	G	13: 68,759,363 (GRCm39)	H112Q	probably damaging	Het
Chodl	T	A	16: 78,738,557 (GRCm39)	S138T	probably damaging	Het
Dnah8	C	T	17: 30,875,572 (GRCm39)	R465*	probably null	Het
Fgfr2	A	G	7: 129,786,978 (GRCm39)	W358R	probably damaging	Het
Iqgap2	G	T	13: 95,772,090 (GRCm39)	A1363E	possibly damaging	Het
Malt1	T	A	18: 65,582,087 (GRCm39)	I317K	probably benign	Het
Mrps5	A	G	2: 127,433,827 (GRCm39)	N72S	probably null	Het
Mst1r	T	A	9: 107,794,005 (GRCm39)		probably null	Het
Nars1	A	T	18: 64,640,929 (GRCm39)	C176S	probably damaging	Het
Nt5el	T	A	13: 105,256,338 (GRCm39)	M469K	probably damaging	Het
Or4l1	A	T	14: 50,166,555 (GRCm39)	W149R	probably damaging	Het
Plxna4	T	G	6: 32,192,139 (GRCm39)	D817A	possibly damaging	Het
Plxnb1	C	T	9: 108,930,052 (GRCm39)	P303S	probably benign	Het
Sulf1	A	T	1: 12,888,675 (GRCm39)	H320L	probably damaging	Het
Use1	G	A	8: 71,819,711 (GRCm39)		probably benign	Het
Vmn2r6	T	C	3: 64,463,766 (GRCm39)	D356G	possibly damaging	Het

Other mutations in Prkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Prkd2	APN	7	16,599,787 (GRCm39)	missense	probably damaging	1.00
IGL01138:Prkd2	APN	7	16,582,736 (GRCm39)	missense	probably damaging	1.00
IGL01714:Prkd2	APN	7	16,597,867 (GRCm39)	missense	probably damaging	1.00
IGL01969:Prkd2	APN	7	16,599,682 (GRCm39)	missense	probably damaging	1.00
IGL02354:Prkd2	APN	7	16,581,583 (GRCm39)	missense	probably damaging	1.00
IGL02361:Prkd2	APN	7	16,581,583 (GRCm39)	missense	probably damaging	1.00
IGL02504:Prkd2	APN	7	16,591,757 (GRCm39)	missense	probably damaging	1.00
IGL02804:Prkd2	APN	7	16,589,815 (GRCm39)	missense	probably benign	0.04
IGL02834:Prkd2	APN	7	16,579,859 (GRCm39)	missense	probably damaging	0.97
IGL02962:Prkd2	APN	7	16,603,757 (GRCm39)	missense	probably benign	0.01
IGL03053:Prkd2	APN	7	16,584,188 (GRCm39)	missense	possibly damaging	0.63
IGL03168:Prkd2	APN	7	16,584,188 (GRCm39)	missense	possibly damaging	0.63
alila	UTSW	7	16,581,579 (GRCm39)	missense	probably damaging	1.00
Beaches	UTSW	7	16,583,128 (GRCm39)	nonsense	probably null
Purnama	UTSW	7	16,603,490 (GRCm39)	missense	probably damaging	1.00
Sandals	UTSW	7	16,599,639 (GRCm39)	missense	probably damaging	1.00
R0024:Prkd2	UTSW	7	16,581,568 (GRCm39)	missense	probably damaging	1.00
R0173:Prkd2	UTSW	7	16,582,969 (GRCm39)	missense	probably benign
R0190:Prkd2	UTSW	7	16,603,815 (GRCm39)	missense	probably damaging	1.00
R0834:Prkd2	UTSW	7	16,599,602 (GRCm39)	splice site	probably benign
R1418:Prkd2	UTSW	7	16,603,470 (GRCm39)	missense	probably benign	0.03
R1488:Prkd2	UTSW	7	16,592,364 (GRCm39)	missense	probably damaging	1.00
R1648:Prkd2	UTSW	7	16,591,732 (GRCm39)	missense	possibly damaging	0.51
R2015:Prkd2	UTSW	7	16,581,602 (GRCm39)	nonsense	probably null
R2042:Prkd2	UTSW	7	16,590,193 (GRCm39)	missense	possibly damaging	0.86
R2101:Prkd2	UTSW	7	16,603,490 (GRCm39)	missense	probably damaging	1.00
R3884:Prkd2	UTSW	7	16,587,180 (GRCm39)	missense	probably benign	0.02
R4601:Prkd2	UTSW	7	16,577,573 (GRCm39)	unclassified	probably benign
R4979:Prkd2	UTSW	7	16,582,652 (GRCm39)	missense	probably damaging	1.00
R5240:Prkd2	UTSW	7	16,589,711 (GRCm39)	missense	probably benign	0.09
R5643:Prkd2	UTSW	7	16,577,717 (GRCm39)	missense	probably benign	0.02
R5994:Prkd2	UTSW	7	16,584,261 (GRCm39)	missense	probably benign	0.00
R6033:Prkd2	UTSW	7	16,599,639 (GRCm39)	missense	probably damaging	1.00
R6033:Prkd2	UTSW	7	16,599,639 (GRCm39)	missense	probably damaging	1.00
R6361:Prkd2	UTSW	7	16,581,579 (GRCm39)	missense	probably damaging	1.00
R6738:Prkd2	UTSW	7	16,599,830 (GRCm39)	missense	possibly damaging	0.64
R6798:Prkd2	UTSW	7	16,583,128 (GRCm39)	nonsense	probably null
R6815:Prkd2	UTSW	7	16,577,718 (GRCm39)	missense	probably benign	0.00
R7241:Prkd2	UTSW	7	16,591,730 (GRCm39)	missense	probably benign	0.44
R7293:Prkd2	UTSW	7	16,579,865 (GRCm39)	missense	possibly damaging	0.88
R7323:Prkd2	UTSW	7	16,581,547 (GRCm39)	missense	probably benign	0.07
R7900:Prkd2	UTSW	7	16,587,269 (GRCm39)	missense	probably benign	0.01
R7943:Prkd2	UTSW	7	16,584,244 (GRCm39)	missense	probably benign	0.30
R8723:Prkd2	UTSW	7	16,591,702 (GRCm39)	missense	possibly damaging	0.90
R8729:Prkd2	UTSW	7	16,583,052 (GRCm39)	missense	probably damaging	1.00
R8923:Prkd2	UTSW	7	16,599,682 (GRCm39)	missense	probably damaging	1.00
R9111:Prkd2	UTSW	7	16,584,131 (GRCm39)	missense	probably benign	0.01
R9222:Prkd2	UTSW	7	16,577,699 (GRCm39)	missense	probably damaging	0.98
R9466:Prkd2	UTSW	7	16,589,696 (GRCm39)	missense	probably damaging	1.00
R9564:Prkd2	UTSW	7	16,591,744 (GRCm39)	missense	possibly damaging	0.92
X0062:Prkd2	UTSW	7	16,589,716 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07