Mutagenetix > Incidental Mutation

Incidental Mutation 'R1669:Prkd1'

187474

Institutional Source

Beutler Lab

Gene Symbol

Prkd1

Ensembl Gene

ENSMUSG00000002688

Gene Name

protein kinase D1

Synonyms

PKD1, Prkcm, Pkcm

MMRRC Submission

039705-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1669 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50388014-50695881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50441709 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 277 (H277Y)

Ref Sequence

ENSEMBL: ENSMUSP00000002765 (fasta)

Gene Model

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

AlphaFold

Q62101

Predicted Effect

probably damaging
Transcript: ENSMUST00000002765
AA Change: H277Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: H277Y

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

0.9727

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.3%

Validation Efficiency

99% (85/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano10	A	C	9: 122,086,249 (GRCm39)	L258R	possibly damaging	Het
Ap3d1	A	G	10: 80,546,670 (GRCm39)		probably benign	Het
Aplp2	G	T	9: 31,079,029 (GRCm39)		probably benign	Het
Arhgap11a	T	C	2: 113,672,257 (GRCm39)	D237G	possibly damaging	Het
Arhgef4	A	T	1: 34,771,239 (GRCm39)	H1182L	possibly damaging	Het
Ash1l	G	A	3: 88,974,549 (GRCm39)		probably null	Het
Bicdl1	C	A	5: 115,794,075 (GRCm39)	V224L	possibly damaging	Het
Cacna1h	C	A	17: 25,602,445 (GRCm39)	V1422L	probably damaging	Het
Card10	T	C	15: 78,678,153 (GRCm39)	E365G	probably benign	Het
Cd180	C	T	13: 102,841,998 (GRCm39)	T348I	probably damaging	Het
Cds2	T	A	2: 132,137,439 (GRCm39)		probably null	Het
Chaf1a	C	A	17: 56,370,339 (GRCm39)	D601E	probably benign	Het
Coprs	C	T	8: 13,935,704 (GRCm39)	W12*	probably null	Het
Cpsf3	T	A	12: 21,355,332 (GRCm39)	M424K	probably damaging	Het
Cxcl13	T	A	5: 96,106,600 (GRCm39)	N57K	probably damaging	Het
Dact1	C	T	12: 71,365,547 (GRCm39)	T776M	probably damaging	Het
Depdc1a	A	G	3: 159,228,561 (GRCm39)	K438E	probably benign	Het
Dop1b	T	A	16: 93,566,548 (GRCm39)	S992T	probably damaging	Het
Dusp11	A	T	6: 85,927,008 (GRCm39)	H202Q	probably benign	Het
Ezr	T	C	17: 7,006,712 (GRCm39)	E584G	probably damaging	Het
F830104G03Rik	A	G	3: 56,797,998 (GRCm39)	V6A	unknown	Het
Fam227a	G	A	15: 79,504,878 (GRCm39)		probably null	Het
Gapvd1	T	G	2: 34,620,694 (GRCm39)		probably null	Het
Gm10267	T	C	18: 44,290,367 (GRCm39)	R47G	probably damaging	Het
Hectd3	T	A	4: 116,856,840 (GRCm39)	D462E	probably damaging	Het
Hfe	A	T	13: 23,890,110 (GRCm39)	L133*	probably null	Het
Hpcal4	T	C	4: 123,082,869 (GRCm39)	F72L	probably damaging	Het
Itgb4	G	A	11: 115,882,156 (GRCm39)	R825H	probably benign	Het
Kcnh8	T	A	17: 53,200,996 (GRCm39)	Y477N	probably damaging	Het
Kctd1	T	C	18: 15,195,517 (GRCm39)	N369D	possibly damaging	Het
Kdm1b	C	T	13: 47,222,024 (GRCm39)	R488C	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Klra8	A	T	6: 130,092,592 (GRCm39)	C236*	probably null	Het
Lca5l	T	C	16: 95,961,008 (GRCm39)	R485G	possibly damaging	Het
Lrrc2	A	G	9: 110,810,718 (GRCm39)	T363A	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Lyst	G	A	13: 13,818,672 (GRCm39)	G1314D	possibly damaging	Het
Mmp10	A	T	9: 7,505,526 (GRCm39)		probably null	Het
Mmp13	A	G	9: 7,277,926 (GRCm39)	D273G	probably benign	Het
Morc2a	G	A	11: 3,625,885 (GRCm39)	V162M	probably benign	Het
Msh4	C	T	3: 153,582,357 (GRCm39)	R417Q	possibly damaging	Het
Nedd9	A	T	13: 41,465,270 (GRCm39)	V790E	probably damaging	Het
Nlgn1	C	A	3: 25,490,298 (GRCm39)	L476F	probably damaging	Het
Nox4	C	A	7: 86,945,097 (GRCm39)	Q118K	probably benign	Het
Nxf1	A	G	19: 8,749,495 (GRCm39)	T131A	possibly damaging	Het
Oog3	C	A	4: 143,885,008 (GRCm39)	R309S	probably benign	Het
Oosp3	C	T	19: 11,678,378 (GRCm39)		probably benign	Het
Or10a3	T	A	7: 108,479,920 (GRCm39)	T298S	probably benign	Het
Or2a7	T	A	6: 43,151,755 (GRCm39)	S278R	probably damaging	Het
Or2w6	A	T	13: 21,843,456 (GRCm39)	S12R	possibly damaging	Het
Or4c126	T	A	2: 89,824,144 (GRCm39)		probably null	Het
Or51a42	A	T	7: 103,708,516 (GRCm39)	S98T	probably benign	Het
Or5b97	A	T	19: 12,878,652 (GRCm39)	I164K	possibly damaging	Het
P2ry6	A	G	7: 100,587,630 (GRCm39)	V243A	probably damaging	Het
Pgc	C	A	17: 48,044,715 (GRCm39)	P321T	probably damaging	Het
Pramel22	T	G	4: 143,380,916 (GRCm39)	E369A	possibly damaging	Het
Prkdc	T	A	16: 15,551,922 (GRCm39)	S2043T	probably damaging	Het
Rasal3	T	C	17: 32,622,072 (GRCm39)	N96D	possibly damaging	Het
Rnf4	T	C	5: 34,508,624 (GRCm39)	F162S	probably damaging	Het
Ros1	A	T	10: 52,037,907 (GRCm39)	N421K	probably damaging	Het
Rtn4rl1	A	G	11: 75,156,753 (GRCm39)	D395G	probably benign	Het
Scn8a	T	G	15: 100,909,001 (GRCm39)	V823G	probably damaging	Het
Sema3d	T	A	5: 12,558,051 (GRCm39)		probably benign	Het
Slc12a2	T	C	18: 58,037,307 (GRCm39)	I501T	probably damaging	Het
Slc12a7	C	T	13: 73,943,232 (GRCm39)	T382I	probably benign	Het
Slc16a12	T	A	19: 34,657,781 (GRCm39)	I41L	probably benign	Het
Slc1a1	C	A	19: 28,889,194 (GRCm39)	T489K	probably benign	Het
Slc24a3	C	T	2: 145,455,512 (GRCm39)	P467L	probably damaging	Het
Slco1a8	T	A	6: 141,933,415 (GRCm39)	I457F	probably benign	Het
Snai2	A	T	16: 14,524,908 (GRCm39)	Y138F	possibly damaging	Het
Sorcs1	A	C	19: 50,463,860 (GRCm39)	Y197D	probably damaging	Het
Sppl2a	T	A	2: 126,759,714 (GRCm39)		probably benign	Het
Srgap3	G	A	6: 112,699,865 (GRCm39)	P1038S	probably benign	Het
Ttn	T	C	2: 76,554,807 (GRCm39)	E30699G	probably damaging	Het
Vmn2r124	T	A	17: 18,283,206 (GRCm39)	M300K	possibly damaging	Het
Vwf	T	C	6: 125,624,869 (GRCm39)	S1873P	possibly damaging	Het
Wrap73	A	G	4: 154,240,588 (GRCm39)	D360G	probably damaging	Het
Zfp366	T	C	13: 99,366,069 (GRCm39)	M410T	probably damaging	Het
Zfp608	C	T	18: 55,120,811 (GRCm39)	V259I	probably benign	Het
Zfp69	C	T	4: 120,804,695 (GRCm39)		probably benign	Het
Zfp995	T	C	17: 22,098,945 (GRCm39)	T430A	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
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

Predicted Primers

PCR Primer
(F):5'- CGCAGCGTTTGTGACAGTTGAATC -3'
(R):5'- TCAAGTGTATGACACGCATTCACCC -3'

Sequencing Primer
(F):5'- TGTGACAGTTGAATCTGCAATC -3'
(R):5'- GTATGACACGCATTCACCCATTATG -3'

Posted On

2014-05-09