Mutagenetix > Incidental Mutations

Incidental Mutation 'R8671:Prkd1'

661172

Institutional Source

Beutler Lab

Gene Symbol

Prkd1

Ensembl Gene

ENSMUSG00000002688

Gene Name

protein kinase D1

Synonyms

Prkcm, Pkcm, PKD1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50341231-50649098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50388408 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 512 (N512I)

Ref Sequence

ENSEMBL: ENSMUSP00000002765 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000002765
AA Change: N512I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: N512I

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

0.1035

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (48/48)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	C	T	4: 73,942,929	E145K	probably damaging	Het
4930430A15Rik	T	C	2: 111,229,532		probably benign	Het
4930467E23Rik	T	A	8: 19,734,759	L203*	probably null	Het
Ambp	A	T	4: 63,150,419	Y120*	probably null	Het
Ankrd36	C	T	11: 5,629,312	A192V	probably benign	Het
Apol7e	A	T	15: 77,717,603	M134L	probably benign	Het
Atg9b	A	T	5: 24,386,109	N774K	probably benign	Het
BC027072	G	T	17: 71,751,377	A435E	probably benign	Het
Catsperb	T	A	12: 101,594,337	N862K	possibly damaging	Het
Ccdc7a	T	A	8: 128,920,467	D648V	probably damaging	Het
Cfap54	G	T	10: 92,955,072	P1855T	unknown	Het
Clcnkb	T	A	4: 141,412,230	T154S	probably damaging	Het
Cux1	C	T	5: 136,250,600	R609H	probably damaging	Het
Eif2ak4	A	G	2: 118,422,186	D413G	possibly damaging	Het
Flnc	T	C	6: 29,443,502		probably null	Het
Grm5	T	C	7: 88,116,290		probably null	Het
Hectd3	T	G	4: 116,996,581	F225V	possibly damaging	Het
Hpcal4	G	T	4: 123,189,183	M107I	probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ikbkap	A	G	4: 56,771,453	L948P	probably damaging	Het
Larp4	C	A	15: 100,010,458	Q607K	probably benign	Het
March8	A	G	6: 116,401,854	R250G	probably benign	Het
Med13	A	C	11: 86,271,097	N2135K	probably damaging	Het
Msh5	T	A	17: 35,045,933	R89*	probably null	Het
Musk	T	G	4: 58,286,051		probably benign	Het
Myo18b	T	C	5: 112,874,743	Q261R	unknown	Het
Npr1	A	T	3: 90,456,157		probably benign	Het
Nynrin	T	A	14: 55,870,442	V1002E	possibly damaging	Het
Olfr1138	A	T	2: 87,737,646	L226Q	probably damaging	Het
Olfr1195	A	T	2: 88,683,105	F209Y	probably benign	Het
Olfr1315-ps1	T	A	2: 112,110,988	K88M	probably damaging	Het
Olfr167	T	C	16: 19,515,054	Y194C	possibly damaging	Het
Pcdh9	T	C	14: 93,888,650	Y28C	probably damaging	Het
Pmpca	G	C	2: 26,395,034	E424Q	possibly damaging	Het
Pwwp2b	C	T	7: 139,256,410	P589L	probably damaging	Het
Rasgrp4	G	A	7: 29,143,027	G242D	probably damaging	Het
Rcbtb1	T	G	14: 59,230,524	V480G	probably damaging	Het
Rptn	A	G	3: 93,398,194	S945G	probably benign	Het
Slc22a2	C	T	17: 12,605,976	Q242*	probably null	Het
Slfn3	T	A	11: 83,212,999	V232E	probably benign	Het
Stab1	T	A	14: 31,157,408	K705M	probably damaging	Het
Syn2	C	A	6: 115,278,167	S480*	probably null	Het
Thsd4	A	T	9: 60,394,445	L189H	probably damaging	Het
Tinagl1	T	C	4: 130,167,804	T250A	probably benign	Het
Tnc	A	T	4: 64,017,446	C418S	probably damaging	Het
Ube2q1	A	G	3: 89,776,078	E110G	probably damaging	Het
Wdfy4	G	T	14: 32,971,765		probably benign	Het
Xcl1	T	C	1: 164,931,850	M94V	probably benign	Het
Zfp369	T	C	13: 65,296,281	S413P	possibly damaging	Het
Zfp454	A	C	11: 50,873,768	I279S	possibly damaging	Het
Zfp971	A	C	2: 178,033,937	Q443P	probably damaging	Het

Other mutations in Prkd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00497:Prkd1	APN	12	50383481	missense	probably damaging	1.00
IGL00727:Prkd1	APN	12	50364661	missense	probably damaging	1.00
IGL00772:Prkd1	APN	12	50383416	missense	probably damaging	0.99
IGL01092:Prkd1	APN	12	50383515	splice site	probably benign
IGL01457:Prkd1	APN	12	50392910	nonsense	probably null
IGL01538:Prkd1	APN	12	50342142	missense	probably benign
IGL01762:Prkd1	APN	12	50387230	missense	probably benign	0.00
IGL01876:Prkd1	APN	12	50366348	missense	probably damaging	1.00
IGL01973:Prkd1	APN	12	50366379	missense	probably damaging	1.00
IGL02086:Prkd1	APN	12	50387263	missense	probably benign
IGL02293:Prkd1	APN	12	50489978	missense	probably damaging	0.97
IGL02454:Prkd1	APN	12	50364673	missense	probably benign	0.09
IGL03309:Prkd1	APN	12	50388424	missense	probably damaging	1.00
R0349:Prkd1	UTSW	12	50366356	missense	probably damaging	1.00
R0457:Prkd1	UTSW	12	50366372	missense	probably damaging	0.99
R0627:Prkd1	UTSW	12	50490041	missense	probably benign	0.00
R0899:Prkd1	UTSW	12	50385193	missense	probably damaging	0.98
R1219:Prkd1	UTSW	12	50388342	missense	probably damaging	1.00
R1495:Prkd1	UTSW	12	50366352	missense	probably damaging	1.00
R1584:Prkd1	UTSW	12	50425515	missense	probably damaging	1.00
R1665:Prkd1	UTSW	12	50394926	missense	probably damaging	1.00
R1666:Prkd1	UTSW	12	50394926	missense	probably damaging	1.00
R1668:Prkd1	UTSW	12	50394926	missense	probably damaging	1.00
R1669:Prkd1	UTSW	12	50394926	missense	probably damaging	1.00
R1735:Prkd1	UTSW	12	50342039	missense	possibly damaging	0.79
R1939:Prkd1	UTSW	12	50394994	missense	probably benign	0.00
R2143:Prkd1	UTSW	12	50489911	missense	possibly damaging	0.77
R2145:Prkd1	UTSW	12	50489911	missense	possibly damaging	0.77
R3404:Prkd1	UTSW	12	50648904	missense	unknown
R3801:Prkd1	UTSW	12	50383422	missense	possibly damaging	0.89
R3818:Prkd1	UTSW	12	50419884	splice site	probably benign
R3906:Prkd1	UTSW	12	50388426	missense	possibly damaging	0.91
R3966:Prkd1	UTSW	12	50392941	missense	probably benign	0.44
R4179:Prkd1	UTSW	12	50366448	missense	probably damaging	1.00
R4510:Prkd1	UTSW	12	50392979	missense	possibly damaging	0.81
R4511:Prkd1	UTSW	12	50392979	missense	possibly damaging	0.81
R4663:Prkd1	UTSW	12	50419848	splice site	probably null
R4896:Prkd1	UTSW	12	50389962	missense	probably damaging	1.00
R5070:Prkd1	UTSW	12	50394622	nonsense	probably null
R5263:Prkd1	UTSW	12	50388306	missense	probably damaging	1.00
R5389:Prkd1	UTSW	12	50343137	missense	probably damaging	1.00
R5395:Prkd1	UTSW	12	50391432	missense	probably damaging	1.00
R5855:Prkd1	UTSW	12	50392916	missense	probably benign	0.03
R5967:Prkd1	UTSW	12	50364550	missense	probably damaging	0.99
R5973:Prkd1	UTSW	12	50388255	missense	probably damaging	0.99
R6052:Prkd1	UTSW	12	50366300	critical splice donor site	probably null
R6063:Prkd1	UTSW	12	50342043	missense	probably benign	0.02
R6309:Prkd1	UTSW	12	50394660	nonsense	probably null
R6518:Prkd1	UTSW	12	50425495	missense	probably benign	0.08
R6868:Prkd1	UTSW	12	50425537	missense	probably damaging	1.00
R7256:Prkd1	UTSW	12	50388342	missense	possibly damaging	0.88
R7346:Prkd1	UTSW	12	50648834	missense	possibly damaging	0.86
R7815:Prkd1	UTSW	12	50425517	missense	probably damaging	1.00
R8290:Prkd1	UTSW	12	50342016	missense	probably damaging	1.00
R8397:Prkd1	UTSW	12	50392892	missense	probably benign
R8805:Prkd1	UTSW	12	50388372	missense	probably benign	0.45
R8805:Prkd1	UTSW	12	50388373	missense	probably damaging	0.99
X0024:Prkd1	UTSW	12	50489974	missense	probably benign	0.31
X0062:Prkd1	UTSW	12	50394922	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGAAAGCAGCAGGTCTCTTAC -3'
(R):5'- AATCGGCATGATTTTGGTTAACCAC -3'

Sequencing Primer
(F):5'- AGGTCTCTTACTGGACCATCAGGAG -3'
(R):5'- GGTTAACCACATTTACCATTCTTTG -3'

Posted On

2021-03-08