Mutagenetix > Incidental Mutation

Incidental Mutation 'R7241:Prkd2'

563198

Institutional Source

Beutler Lab

Gene Symbol

Prkd2

Ensembl Gene

ENSMUSG00000041187

Gene Name

protein kinase D2

Synonyms

PKD2

MMRRC Submission

045348-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16576827-16604386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 16591730 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 587 (R587L)

Ref Sequence

ENSEMBL: ENSMUSP00000083273 (fasta)

Gene Model

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

AlphaFold

Q8BZ03

Predicted Effect

probably benign
Transcript: ENSMUST00000086104
AA Change: R587L

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: R587L

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 benign
Transcript: ENSMUST00000168093
AA Change: R587L

PolyPhen 2 Score 0.436 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: R587L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,846,184 (GRCm39)	T612A	probably damaging	Het
Acacb	G	A	5: 114,383,161 (GRCm39)	A2115T	possibly damaging	Het
Adam32	T	C	8: 25,388,510 (GRCm39)	K398R	probably benign	Het
Adam9	T	A	8: 25,441,002 (GRCm39)	I824F	possibly damaging	Het
Ahnak	A	G	19: 8,986,395 (GRCm39)	I2560V	possibly damaging	Het
Ank3	G	A	10: 69,542,644 (GRCm39)	M1I	probably null	Het
Anks1b	T	G	10: 90,348,699 (GRCm39)	I789S	probably damaging	Het
Ap2b1	T	A	11: 83,241,931 (GRCm39)	N641K	probably benign	Het
Arhgap33	A	G	7: 30,228,146 (GRCm39)	L412P	probably damaging	Het
Atp13a3	T	A	16: 30,171,095 (GRCm39)	M317L	possibly damaging	Het
B4galt5	A	G	2: 167,148,617 (GRCm39)	L167P	probably damaging	Het
Bace2	T	C	16: 97,237,998 (GRCm39)	I483T	possibly damaging	Het
C2cd3	A	C	7: 100,056,257 (GRCm39)	K177T		Het
Ccr4	T	C	9: 114,322,024 (GRCm39)	T14A	probably benign	Het
Cep250	A	T	2: 155,833,472 (GRCm39)	H1799L	probably benign	Het
Cgnl1	T	C	9: 71,632,052 (GRCm39)	Q433R	probably benign	Het
Copb1	C	T	7: 113,836,591 (GRCm39)	V384M	probably damaging	Het
Cyp2c50	T	A	19: 40,079,012 (GRCm39)	N118K	probably benign	Het
Cyp4a32	A	G	4: 115,459,499 (GRCm39)	I78V	probably benign	Het
Cyth4	A	G	15: 78,491,245 (GRCm39)	K108R	probably benign	Het
Dnah1	T	C	14: 30,986,896 (GRCm39)	H3632R	probably benign	Het
Dnah3	T	C	7: 119,542,856 (GRCm39)	I540V	probably benign	Het
Dock4	A	G	12: 40,844,859 (GRCm39)	Y1174C	probably damaging	Het
Drd5	A	G	5: 38,477,879 (GRCm39)	T291A	probably damaging	Het
Eeig1	A	G	2: 32,448,076 (GRCm39)	R62G	probably benign	Het
Fbn1	T	C	2: 125,148,415 (GRCm39)	N2611S	possibly damaging	Het
Fcsk	A	G	8: 111,622,529 (GRCm39)	I133T	probably benign	Het
Fhod3	A	G	18: 25,193,409 (GRCm39)	E640G	probably damaging	Het
Flvcr2	T	A	12: 85,852,013 (GRCm39)	D522E	probably benign	Het
Ganc	T	A	2: 120,272,010 (GRCm39)	I556K	probably damaging	Het
Gjc2	T	A	11: 59,067,960 (GRCm39)	E174V	unknown	Het
Gzmd	G	A	14: 56,368,799 (GRCm39)	R32C	probably damaging	Het
Hltf	T	A	3: 20,119,556 (GRCm39)	H200Q	probably benign	Het
Ift88	A	G	14: 57,717,454 (GRCm39)	I559M	probably damaging	Het
Ighv1-62-1	C	A	12: 115,350,322 (GRCm39)	C115F	probably damaging	Het
Impdh2	A	G	9: 108,440,636 (GRCm39)	N279S	possibly damaging	Het
Itpr1	T	C	6: 108,494,581 (GRCm39)		probably null	Het
Kansl1l	T	C	1: 66,840,787 (GRCm39)	N171S	possibly damaging	Het
Kif14	T	A	1: 136,396,491 (GRCm39)	C266S	probably benign	Het
Kif19b	A	G	5: 140,447,943 (GRCm39)	T137A	probably damaging	Het
Lrriq1	A	C	10: 103,051,834 (GRCm39)	V306G	probably damaging	Het
Mast4	G	A	13: 103,470,508 (GRCm39)	R65W	possibly damaging	Het
Mex3d	T	C	10: 80,223,091 (GRCm39)	D55G		Het
Mrps27	A	T	13: 99,547,788 (GRCm39)	K233*	probably null	Het
Myo1f	A	G	17: 33,798,902 (GRCm39)	N189S	probably damaging	Het
Nbn	A	T	4: 15,991,190 (GRCm39)	K729N	probably benign	Het
Or1e35	T	C	11: 73,798,058 (GRCm39)	S87G	probably benign	Het
Or8k35	C	A	2: 86,424,498 (GRCm39)	V225F	possibly damaging	Het
Pgghg	T	C	7: 140,525,633 (GRCm39)	S479P		Het
Plaat5	A	G	19: 7,591,946 (GRCm39)	T121A	probably benign	Het
Polr1e	A	C	4: 45,029,340 (GRCm39)	H315P	probably damaging	Het
Pou6f2	A	G	13: 18,299,874 (GRCm39)	V595A		Het
Prdm15	T	C	16: 97,596,941 (GRCm39)	D960G	possibly damaging	Het
Prkcz	A	T	4: 155,353,516 (GRCm39)	M460K	probably benign	Het
Prkn	C	A	17: 12,073,748 (GRCm39)	N355K	possibly damaging	Het
Rabep1	C	A	11: 70,830,815 (GRCm39)	T829N	probably damaging	Het
Rptn	A	G	3: 93,303,261 (GRCm39)	E198G	probably benign	Het
Ryr2	A	T	13: 11,680,799 (GRCm39)	I3182N	possibly damaging	Het
Sectm1a	T	A	11: 120,960,708 (GRCm39)	I36F	possibly damaging	Het
Sez6l	T	C	5: 112,621,346 (GRCm39)	S243G	probably benign	Het
Spata31h1	T	C	10: 82,122,876 (GRCm39)	E3378G	probably benign	Het
Taf2	T	A	15: 54,925,537 (GRCm39)	H235L	probably benign	Het
Tbc1d7	T	C	13: 43,306,493 (GRCm39)	Q161R	probably benign	Het
Tfcp2	T	C	15: 100,416,468 (GRCm39)	T271A	possibly damaging	Het
Thrsp	G	T	7: 97,066,295 (GRCm39)	T139K	probably damaging	Het
Timm10	T	A	2: 84,660,333 (GRCm39)	*91R	probably null	Het
Tlr11	T	A	14: 50,599,598 (GRCm39)	I528N	possibly damaging	Het
Tnnt2	T	A	1: 135,779,444 (GRCm39)	L278Q	probably damaging	Het
Toe1	A	T	4: 116,664,715 (GRCm39)	M1K	probably null	Het
Trpv5	G	A	6: 41,652,242 (GRCm39)	R148*	probably null	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Ttn	A	G	2: 76,783,550 (GRCm39)	V860A	unknown	Het
Txnip	T	C	3: 96,466,991 (GRCm39)	Y222H	probably damaging	Het
Ubr4	G	A	4: 139,170,725 (GRCm39)	S1600N	probably damaging	Het
Uhrf1	T	C	17: 56,622,193 (GRCm39)	Y364H	probably damaging	Het
Unc5a	A	T	13: 55,138,833 (GRCm39)	T71S	probably damaging	Het
Vmn1r123	A	T	7: 20,896,537 (GRCm39)	Y143F	possibly damaging	Het
Vmn1r180	T	A	7: 23,651,891 (GRCm39)	I18N	probably damaging	Het
Washc2	A	G	6: 116,185,168 (GRCm39)	M1V	probably null	Het
Zfp174	C	A	16: 3,666,111 (GRCm39)	H125Q	probably benign	Het
Zfpl1	T	C	19: 6,131,943 (GRCm39)	H227R	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
IGL01968:Prkd2	APN	7	16,603,501 (GRCm39)	splice site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGAACTCTTCAGAGAAACCTTGAAG -3'
(R):5'- TGCACAGACTGGTCCTTGTC -3'

Sequencing Primer
(F):5'- TCTTCAGAGAAACCTTGAAGGCCTAC -3'
(R):5'- AGAATACCCCTCAGTTCCAGTATGTG -3'

Posted On

2019-06-26