Mutagenetix > Incidental Mutation

Incidental Mutation 'R3906:Prkd1'

309195

Institutional Source

Beutler Lab

Gene Symbol

Prkd1

Ensembl Gene

ENSMUSG00000002688

Gene Name

protein kinase D1

Synonyms

PKD1, Prkcm, Pkcm

MMRRC Submission

040813-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3906 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50388014-50695881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50435209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 506 (V506E)

Ref Sequence

ENSEMBL: ENSMUSP00000002765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002765]

AlphaFold

Q62101

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002765
AA Change: V506E

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: V506E

Domain	Start	End	E-Value	Type
low complexity region	2	46	N/A	INTRINSIC
C1	138	194	1.36e-12	SMART
C1	277	326	5.95e-18	SMART
PH	429	549	5.33e-9	SMART
S_TKc	589	845	1.24e-92	SMART

Meta Mutation Damage Score

0.1122

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (36/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial embryonic lethality. Mice homozygous for a knock-in allele display partial embryonic and perinatal lethality. [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
Abca1	A	G	4: 53,067,151 (GRCm39)	V1352A	possibly damaging	Het
Abcb7	G	T	X: 103,327,765 (GRCm39)	Q715K	probably benign	Het
Adamts3	C	A	5: 90,009,214 (GRCm39)	G150C	probably damaging	Het
Ank2	A	G	3: 126,810,547 (GRCm39)	L513P	probably damaging	Het
Cacng1	C	A	11: 107,607,118 (GRCm39)	V34L	probably benign	Het
Cd1d1	A	G	3: 86,906,063 (GRCm39)	W71R	probably damaging	Het
Cdhr3	A	G	12: 33,103,427 (GRCm39)	F397L	probably damaging	Het
Ces2a	A	G	8: 105,465,940 (GRCm39)	I325V	probably benign	Het
Ctsq	C	T	13: 61,186,585 (GRCm39)	V140M	probably damaging	Het
Cyp4f18	A	G	8: 72,754,926 (GRCm39)		probably benign	Het
Ddi2	T	C	4: 141,411,592 (GRCm39)	D440G	probably benign	Het
Dsg3	G	A	18: 20,671,556 (GRCm39)	G754R	probably damaging	Het
Endod1	T	A	9: 14,292,151 (GRCm39)	Y39F	probably benign	Het
F11	A	G	8: 45,701,675 (GRCm39)	S353P	probably damaging	Het
Fn1	C	T	1: 71,647,072 (GRCm39)	G1482R	probably damaging	Het
Fpr2	A	G	17: 18,113,811 (GRCm39)	K269R	probably benign	Het
Frk	T	G	10: 34,460,052 (GRCm39)	L216V	probably benign	Het
Gan	G	A	8: 117,920,873 (GRCm39)	V370M	probably damaging	Het
Grik1	A	G	16: 87,803,337 (GRCm39)	I285T	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Kbtbd8	T	A	6: 95,103,565 (GRCm39)	Y405N	probably damaging	Het
Kcnj4	G	T	15: 79,369,946 (GRCm39)	H11Q	probably benign	Het
Kif26a	T	A	12: 112,143,324 (GRCm39)	S1193T	probably benign	Het
Kmt2e	A	G	5: 23,706,624 (GRCm39)	N1396D	probably benign	Het
Lasp1	G	A	11: 97,690,653 (GRCm39)	V12M	probably damaging	Het
Lrrk1	G	T	7: 65,944,651 (GRCm39)	T653K	possibly damaging	Het
Meiob	A	G	17: 25,046,922 (GRCm39)	Y182C	probably benign	Het
Myh6	T	C	14: 55,194,412 (GRCm39)	D739G	probably benign	Het
Ninl	T	C	2: 150,822,039 (GRCm39)	D21G	probably damaging	Het
Or11g27	C	T	14: 50,771,211 (GRCm39)	T114I	probably benign	Het
Or9i16	C	T	19: 13,865,070 (GRCm39)	C168Y	probably damaging	Het
Pacsin2	A	C	15: 83,263,256 (GRCm39)	V125G	probably damaging	Het
Pfas	G	A	11: 68,879,112 (GRCm39)		probably benign	Het
Pla2g4f	C	T	2: 120,130,980 (GRCm39)	R825Q	probably benign	Het
Psmd2	A	G	16: 20,474,392 (GRCm39)	D316G	probably benign	Het
Ryr2	T	A	13: 11,753,095 (GRCm39)	D1742V	possibly damaging	Het
Szt2	G	A	4: 118,235,466 (GRCm39)		probably benign	Het
Ugt8a	T	C	3: 125,708,631 (GRCm39)	T160A	possibly damaging	Het
Xrcc6	A	G	15: 81,913,772 (GRCm39)	T378A	probably benign	Het

Other mutations in Prkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Prkd1	APN	12	50,430,264 (GRCm39)	missense	probably damaging	1.00
IGL00727:Prkd1	APN	12	50,411,444 (GRCm39)	missense	probably damaging	1.00
IGL00772:Prkd1	APN	12	50,430,199 (GRCm39)	missense	probably damaging	0.99
IGL01092:Prkd1	APN	12	50,430,298 (GRCm39)	splice site	probably benign
IGL01457:Prkd1	APN	12	50,439,693 (GRCm39)	nonsense	probably null
IGL01538:Prkd1	APN	12	50,388,925 (GRCm39)	missense	probably benign
IGL01762:Prkd1	APN	12	50,434,013 (GRCm39)	missense	probably benign	0.00
IGL01876:Prkd1	APN	12	50,413,131 (GRCm39)	missense	probably damaging	1.00
IGL01973:Prkd1	APN	12	50,413,162 (GRCm39)	missense	probably damaging	1.00
IGL02086:Prkd1	APN	12	50,434,046 (GRCm39)	missense	probably benign
IGL02293:Prkd1	APN	12	50,536,761 (GRCm39)	missense	probably damaging	0.97
IGL02454:Prkd1	APN	12	50,411,456 (GRCm39)	missense	probably benign	0.09
IGL03309:Prkd1	APN	12	50,435,207 (GRCm39)	missense	probably damaging	1.00
R0349:Prkd1	UTSW	12	50,413,139 (GRCm39)	missense	probably damaging	1.00
R0457:Prkd1	UTSW	12	50,413,155 (GRCm39)	missense	probably damaging	0.99
R0627:Prkd1	UTSW	12	50,536,824 (GRCm39)	missense	probably benign	0.00
R0899:Prkd1	UTSW	12	50,431,976 (GRCm39)	missense	probably damaging	0.98
R1219:Prkd1	UTSW	12	50,435,125 (GRCm39)	missense	probably damaging	1.00
R1495:Prkd1	UTSW	12	50,413,135 (GRCm39)	missense	probably damaging	1.00
R1584:Prkd1	UTSW	12	50,472,298 (GRCm39)	missense	probably damaging	1.00
R1665:Prkd1	UTSW	12	50,441,709 (GRCm39)	missense	probably damaging	1.00
R1666:Prkd1	UTSW	12	50,441,709 (GRCm39)	missense	probably damaging	1.00
R1668:Prkd1	UTSW	12	50,441,709 (GRCm39)	missense	probably damaging	1.00
R1669:Prkd1	UTSW	12	50,441,709 (GRCm39)	missense	probably damaging	1.00
R1735:Prkd1	UTSW	12	50,388,822 (GRCm39)	missense	possibly damaging	0.79
R1939:Prkd1	UTSW	12	50,441,777 (GRCm39)	missense	probably benign	0.00
R2143:Prkd1	UTSW	12	50,536,694 (GRCm39)	missense	possibly damaging	0.77
R2145:Prkd1	UTSW	12	50,536,694 (GRCm39)	missense	possibly damaging	0.77
R3404:Prkd1	UTSW	12	50,695,687 (GRCm39)	missense	unknown
R3801:Prkd1	UTSW	12	50,430,205 (GRCm39)	missense	possibly damaging	0.89
R3818:Prkd1	UTSW	12	50,466,667 (GRCm39)	splice site	probably benign
R3966:Prkd1	UTSW	12	50,439,724 (GRCm39)	missense	probably benign	0.44
R4179:Prkd1	UTSW	12	50,413,231 (GRCm39)	missense	probably damaging	1.00
R4510:Prkd1	UTSW	12	50,439,762 (GRCm39)	missense	possibly damaging	0.81
R4511:Prkd1	UTSW	12	50,439,762 (GRCm39)	missense	possibly damaging	0.81
R4663:Prkd1	UTSW	12	50,466,631 (GRCm39)	splice site	probably null
R4896:Prkd1	UTSW	12	50,436,745 (GRCm39)	missense	probably damaging	1.00
R5070:Prkd1	UTSW	12	50,441,405 (GRCm39)	nonsense	probably null
R5263:Prkd1	UTSW	12	50,435,089 (GRCm39)	missense	probably damaging	1.00
R5389:Prkd1	UTSW	12	50,389,920 (GRCm39)	missense	probably damaging	1.00
R5395:Prkd1	UTSW	12	50,438,215 (GRCm39)	missense	probably damaging	1.00
R5855:Prkd1	UTSW	12	50,439,699 (GRCm39)	missense	probably benign	0.03
R5967:Prkd1	UTSW	12	50,411,333 (GRCm39)	missense	probably damaging	0.99
R5973:Prkd1	UTSW	12	50,435,038 (GRCm39)	missense	probably damaging	0.99
R6052:Prkd1	UTSW	12	50,413,083 (GRCm39)	critical splice donor site	probably null
R6063:Prkd1	UTSW	12	50,388,826 (GRCm39)	missense	probably benign	0.02
R6309:Prkd1	UTSW	12	50,441,443 (GRCm39)	nonsense	probably null
R6518:Prkd1	UTSW	12	50,472,278 (GRCm39)	missense	probably benign	0.08
R6868:Prkd1	UTSW	12	50,472,320 (GRCm39)	missense	probably damaging	1.00
R7256:Prkd1	UTSW	12	50,435,125 (GRCm39)	missense	possibly damaging	0.88
R7346:Prkd1	UTSW	12	50,695,617 (GRCm39)	missense	possibly damaging	0.86
R7815:Prkd1	UTSW	12	50,472,300 (GRCm39)	missense	probably damaging	1.00
R8290:Prkd1	UTSW	12	50,388,799 (GRCm39)	missense	probably damaging	1.00
R8397:Prkd1	UTSW	12	50,439,675 (GRCm39)	missense	probably benign
R8671:Prkd1	UTSW	12	50,435,191 (GRCm39)	missense	probably benign	0.00
R8805:Prkd1	UTSW	12	50,435,156 (GRCm39)	missense	probably damaging	0.99
R8805:Prkd1	UTSW	12	50,435,155 (GRCm39)	missense	probably benign	0.45
R8839:Prkd1	UTSW	12	50,389,616 (GRCm39)	intron	probably benign
R9005:Prkd1	UTSW	12	50,430,185 (GRCm39)	nonsense	probably null
R9273:Prkd1	UTSW	12	50,472,232 (GRCm39)	missense	possibly damaging	0.94
R9281:Prkd1	UTSW	12	50,536,758 (GRCm39)	missense	probably benign	0.31
R9480:Prkd1	UTSW	12	50,435,283 (GRCm39)	missense	probably benign	0.19
R9497:Prkd1	UTSW	12	50,438,107 (GRCm39)	critical splice donor site	probably null
X0024:Prkd1	UTSW	12	50,536,757 (GRCm39)	missense	probably benign	0.31
X0062:Prkd1	UTSW	12	50,441,705 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CACTGTGTGAGTTGGATCCG -3'
(R):5'- CATTTTATGCAGGTTATAAGGCCTC -3'

Sequencing Primer
(F):5'- TGGATCCGGAGCCAACAG -3'
(R):5'- TGCAGGTTATAAGGCCTCATTATAG -3'

Posted On

2015-04-17