Mutagenetix > Incidental Mutations

Incidental Mutation 'R3801:Prkd1'

273000

Institutional Source

Beutler Lab

Gene Symbol

Prkd1

Ensembl Gene

ENSMUSG00000002688

Gene Name

protein kinase D1

Synonyms

Prkcm, Pkcm, PKD1

MMRRC Submission

040760-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50341231-50649098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 50383422 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 634 (R634L)

Ref Sequence

ENSEMBL: ENSMUSP00000002765 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002765
AA Change: R634L

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: R634L

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	C	T	8: 79,248,293	E54K	probably benign	Het
Als2	A	C	1: 59,167,199	M1634R	probably damaging	Het
Ankfy1	T	C	11: 72,749,420	S531P	probably benign	Het
Atp6v1e1	A	G	6: 120,801,059	Y172H	probably benign	Het
Brd1	C	T	15: 88,717,040	V464M	probably damaging	Het
Btaf1	A	T	19: 36,986,548	T840S	probably benign	Het
Btaf1	A	T	19: 36,988,973	H1047L	probably benign	Het
Cacnb2	A	G	2: 14,824,263	D3G	possibly damaging	Het
Capn13	G	A	17: 73,339,401	P339L	probably benign	Het
Cgrrf1	G	T	14: 46,832,363	G30C	probably damaging	Het
Crnkl1	T	C	2: 145,919,795	D614G	probably benign	Het
Cyp2c23	C	T	19: 44,007,039	V430I	probably benign	Het
Dazl	G	A	17: 50,281,281	R289W	probably benign	Het
Dsg1b	C	T	18: 20,390,203	P96S	probably damaging	Het
Dusp14	A	G	11: 84,048,709	S169P	possibly damaging	Het
Egfem1	A	G	3: 29,151,926	D91G	probably benign	Het
Eif1	A	G	11: 100,320,824	K95E	probably damaging	Het
Fap	C	T	2: 62,546,650	V191I	probably benign	Het
Flnc	T	C	6: 29,447,404	Y1069H	probably damaging	Het
Fndc7	T	C	3: 108,869,148	T526A	possibly damaging	Het
Fras1	A	T	5: 96,733,932	T2508S	probably benign	Het
Gast	T	C	11: 100,336,810	S73P	probably damaging	Het
Grap2	A	G	15: 80,623,746	T4A	possibly damaging	Het
Grm8	T	G	6: 28,125,636	N164H	possibly damaging	Het
Hyal5	A	T	6: 24,876,524	H132L	probably benign	Het
Iqcm	C	A	8: 75,669,393	T188K	possibly damaging	Het
Kank4	A	G	4: 98,780,133	S26P	probably damaging	Het
Lipo1	C	T	19: 33,784,857	C80Y	probably damaging	Het
Lrrk2	A	G	15: 91,737,111	R963G	probably benign	Het
Lrtm2	G	A	6: 119,317,483	T229I	probably damaging	Het
Mb21d2	A	T	16: 28,828,003	D406E	possibly damaging	Het
Meikin	T	A	11: 54,399,871		probably null	Het
Mybl1	A	T	1: 9,673,214	F538I	probably damaging	Het
Nectin2	T	C	7: 19,717,636	D491G	probably benign	Het
Nf1	A	G	11: 79,559,521	D511G	probably null	Het
Nid2	T	C	14: 19,809,997	C1328R	probably damaging	Het
Nlrp1a	T	A	11: 71,122,703	M574L	probably benign	Het
Nrap	C	T	19: 56,321,779	D1595N	probably damaging	Het
Nrg3	G	A	14: 38,376,434	P496S	probably damaging	Het
Olfr1287	A	T	2: 111,449,565	I142F	probably benign	Het
Pak3	G	A	X: 143,709,731	V87I	probably damaging	Het
Phf8	T	C	X: 151,572,576	S512P	possibly damaging	Het
Phkb	G	T	8: 85,922,229	E225*	probably null	Het
Plaa	T	C	4: 94,569,888	D615G	probably damaging	Het
Prdm12	A	G	2: 31,651,947	K223E	probably damaging	Het
Rassf3	T	A	10: 121,414,366	I181F	possibly damaging	Het
Samd8	G	A	14: 21,775,065	V30M	probably damaging	Het
Sema4f	A	T	6: 82,918,627	H308Q	possibly damaging	Het
Skint4	G	T	4: 112,118,181	V113L	probably damaging	Het
Slc16a10	G	C	10: 40,056,624	H314D	possibly damaging	Het
Slpi	A	G	2: 164,356,238	L12P	probably damaging	Het
Smco1	A	G	16: 32,273,898	Y129C	probably benign	Het
Spag17	A	G	3: 100,053,853	K985R	possibly damaging	Het
Stc1	T	C	14: 69,038,475	I239T	probably benign	Het
Suclg2	A	T	6: 95,497,668	I372N	probably damaging	Het
Tmed4	C	A	11: 6,274,233	V80F	probably damaging	Het
Tnpo2	T	A	8: 85,055,171		probably null	Het
Top1	A	G	2: 160,702,768	H268R	probably damaging	Het
Triobp	A	T	15: 78,973,700	Q1167L	probably benign	Het
Txndc16	G	A	14: 45,151,352	P536L	possibly damaging	Het
Usp13	C	T	3: 32,881,508	A360V	possibly damaging	Het
Vhl	G	A	6: 113,629,462	V147I	probably benign	Het
Vldlr	A	T	19: 27,217,621	T3S	probably damaging	Het
Vps54	T	A	11: 21,268,832	D130E	probably benign	Het
Zfp808	T	A	13: 62,172,083	H375Q	probably damaging	Het
Zfp87	A	T	13: 67,521,215	N37K	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
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
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'- AAGGTACCGTTCAGTTAAGCC -3'
(R):5'- TCTGGAAGGGGCCAATGAAC -3'

Sequencing Primer
(F):5'- AGTTAAGCCTGACTCAATTTGCC -3'
(R):5'- GCCAATGAACACAGTGAGAAC -3'

Posted On

2015-03-25