Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01092:Prkd1'

52443

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prkd1

Ensembl Gene

ENSMUSG00000002688

Gene Name

protein kinase D1

Synonyms

PKD1, Prkcm, Pkcm

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01092

Quality Score

Status

Chromosome

Chromosomal Location

50388014-50695881 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 50430298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002765 (fasta)

Gene Model

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

AlphaFold

Q62101

Predicted Effect

probably benign
Transcript: ENSMUST00000002765

SMART Domains

Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688

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

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 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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap33	T	C	7: 30,229,371 (GRCm39)	R335G	probably damaging	Het
Atad2b	C	T	12: 5,067,987 (GRCm39)	S995L	probably damaging	Het
Atrn	A	T	2: 130,789,556 (GRCm39)	R340*	probably null	Het
Ccdc83	A	T	7: 89,896,313 (GRCm39)	D85E	probably benign	Het
Chd2	A	T	7: 73,091,434 (GRCm39)	H1602Q	possibly damaging	Het
Cog2	A	G	8: 125,272,019 (GRCm39)	D511G	probably damaging	Het
Col4a4	G	T	1: 82,444,266 (GRCm39)	P1334T	unknown	Het
Creb3l4	T	C	3: 90,145,045 (GRCm39)	E369G	probably damaging	Het
Crnkl1	T	C	2: 145,761,868 (GRCm39)	K563R	probably benign	Het
Dbi	T	C	1: 120,041,207 (GRCm39)	K131E	probably benign	Het
Edn1	A	G	13: 42,457,147 (GRCm39)	D60G	probably damaging	Het
Erbin	T	C	13: 103,970,520 (GRCm39)	N1032S	probably damaging	Het
Ero1a	T	C	14: 45,541,043 (GRCm39)	D107G	probably benign	Het
Glmn	A	T	5: 107,726,378 (GRCm39)		probably null	Het
Grxcr1	T	C	5: 68,267,905 (GRCm39)		probably benign	Het
Itih3	T	A	14: 30,631,738 (GRCm39)	K593I	probably damaging	Het
Kmt2b	T	C	7: 30,279,932 (GRCm39)	Y1356C	probably damaging	Het
Lrp1b	C	T	2: 40,640,959 (GRCm39)	C3495Y	probably damaging	Het
Map3k13	A	T	16: 21,746,766 (GRCm39)	T950S	probably damaging	Het
Me1	A	T	9: 86,480,801 (GRCm39)	V348D	probably damaging	Het
Morc2a	T	C	11: 3,634,042 (GRCm39)	V718A	probably benign	Het
Myh7	T	C	14: 55,209,089 (GRCm39)	E1883G	possibly damaging	Het
Or10ak14	T	A	4: 118,610,959 (GRCm39)	I259F	possibly damaging	Het
Or8b49	T	G	9: 38,506,201 (GRCm39)	I228R	probably damaging	Het
Pdcd6ip	A	G	9: 113,509,249 (GRCm39)		probably benign	Het
Plcb3	T	A	19: 6,932,690 (GRCm39)	E1025V	probably benign	Het
Ppp1r26	C	T	2: 28,343,872 (GRCm39)		probably benign	Het
Rwdd4a	C	T	8: 47,997,147 (GRCm39)	T122M	possibly damaging	Het
Sdhb	T	G	4: 140,704,791 (GRCm39)	C251G	probably damaging	Het
Siglec1	A	T	2: 130,921,137 (GRCm39)	I678N	probably damaging	Het
Snrnp70	T	C	7: 45,026,801 (GRCm39)	D215G	probably damaging	Het
Ston1	A	G	17: 88,951,871 (GRCm39)	E674G	probably benign	Het
Tbl3	T	C	17: 24,920,879 (GRCm39)		probably benign	Het
Tbl3	A	T	17: 24,924,226 (GRCm39)	I177N	probably damaging	Het
Tnrc6c	T	C	11: 117,612,811 (GRCm39)	V483A	probably damaging	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
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
R3906:Prkd1	UTSW	12	50,435,209 (GRCm39)	missense	possibly damaging	0.91
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

Posted On

2013-06-21