Mutagenetix > Incidental Mutation

Incidental Mutation 'R1495:Prkd1'

168801

Institutional Source

Beutler Lab

Gene Symbol

Prkd1

Ensembl Gene

ENSMUSG00000002688

Gene Name

protein kinase D1

Synonyms

Prkcm, Pkcm, PKD1

MMRRC Submission

039546-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1495 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50341231-50649098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50366352 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 679 (S679G)

Ref Sequence

ENSEMBL: ENSMUSP00000002765 (fasta)

Gene Model

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

AlphaFold

Q62101

Predicted Effect

probably damaging
Transcript: ENSMUST00000002765
AA Change: S679G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: S679G

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: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.3%

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
4833420G17Rik	A	G	13: 119,477,820	N488S	probably benign	Het
A430105I19Rik	T	G	2: 118,760,532	K173N	probably damaging	Het
Acot10	G	A	15: 20,665,507	R383C	probably damaging	Het
Acsm2	A	G	7: 119,578,126	D263G	probably damaging	Het
Adcy2	G	T	13: 68,796,535	Q243K	probably benign	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Agt	A	G	8: 124,559,455	F296S	probably damaging	Het
Akap14	T	C	X: 37,163,965	D39G	possibly damaging	Het
Akt3	T	C	1: 177,103,042	M117V	probably benign	Het
Ankar	T	C	1: 72,643,291	T1154A	probably benign	Het
Arvcf	T	A	16: 18,389,386	L70Q	probably damaging	Het
Ccdc171	A	T	4: 83,681,095	K724*	probably null	Het
Ccdc91	A	G	6: 147,534,172	T85A	possibly damaging	Het
Cdh3	C	T	8: 106,538,997	T224I	probably damaging	Het
Clstn3	T	C	6: 124,449,917	I482V	probably benign	Het
Cnot9	A	G	1: 74,523,600	E176G	probably damaging	Het
Cntnap4	T	G	8: 112,881,763	L1272V	possibly damaging	Het
Cyb5a	T	A	18: 84,851,480	M1K	probably null	Het
Cyp2c23	A	G	19: 44,005,508	I473T	probably benign	Het
Dbil5	T	A	11: 76,218,450	M60K	probably benign	Het
Dgkg	A	T	16: 22,500,379	L644Q	probably damaging	Het
Disp3	T	C	4: 148,249,825	I1004V	probably benign	Het
Egf	T	A	3: 129,713,006	I599F	probably damaging	Het
Epc2	A	G	2: 49,536,663	T145A	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,357,677		probably benign	Het
Extl3	A	T	14: 65,075,867	V622E	probably benign	Het
Fam227a	C	T	15: 79,626,245	V403I	probably benign	Het
Fat2	T	A	11: 55,262,673	D3571V	probably benign	Het
Fcho2	A	G	13: 98,749,850		probably null	Het
Fras1	A	G	5: 96,528,586	N64S	possibly damaging	Het
Gabbr1	A	G	17: 37,055,940	N352S	possibly damaging	Het
Gabra1	T	C	11: 42,154,944	N113S	probably damaging	Het
Glg1	T	C	8: 111,197,675	Y227C	probably damaging	Het
Gm14851	T	A	8: 21,095,201	Q75L	probably benign	Het
Gm5141	A	T	13: 62,774,270	C362S	probably damaging	Het
Gprc6a	T	A	10: 51,628,437	T104S	probably benign	Het
Jph1	A	C	1: 17,091,652	V262G	probably benign	Het
Kank1	C	G	19: 25,410,349	T434R	probably damaging	Het
Kmt2e	A	G	5: 23,499,327	S1173G	possibly damaging	Het
Krt75	G	A	15: 101,573,873		probably benign	Het
Lyzl1	G	T	18: 4,181,192	W77L	probably null	Het
Nipbl	T	G	15: 8,351,280	N676T	probably benign	Het
Obscn	C	T	11: 59,080,160	S2300N	probably damaging	Het
Olfr459	T	G	6: 41,771,903	Y132S	probably damaging	Het
Osbpl1a	T	A	18: 12,758,839	M350L	probably benign	Het
Pecam1	T	C	11: 106,688,856	D460G	probably damaging	Het
Pik3c2a	T	A	7: 116,388,065	K540N	probably benign	Het
Prdm12	T	A	2: 31,640,193	I32N	probably damaging	Het
Psen2	C	T	1: 180,228,854	A393T	probably damaging	Het
Ptprh	T	A	7: 4,580,889	T235S	probably benign	Het
Ranbp3	C	T	17: 56,705,527	P182L	probably benign	Het
Serpinb7	A	T	1: 107,451,660	K266*	probably null	Het
Sesn3	T	C	9: 14,308,521	S69P	probably damaging	Het
Slc12a6	T	C	2: 112,354,190	M818T	probably damaging	Het
Slc25a53	C	A	X: 137,015,335	C4F	unknown	Het
Snx1	T	A	9: 66,096,597	L255F	probably benign	Het
Sptbn2	T	G	19: 4,718,976	S46A	possibly damaging	Het
Taf4	A	G	2: 179,933,027	F595S	probably damaging	Het
Tec	A	T	5: 72,786,755	V103E	probably damaging	Het
Tmco5b	T	C	2: 113,290,791	S147P	possibly damaging	Het
Uchl5	C	T	1: 143,799,937	T93I	possibly damaging	Het
Usp14	A	T	18: 10,004,994	S225T	probably benign	Het
Usp45	C	A	4: 21,797,385	Q238K	possibly damaging	Het
Vmn1r6	T	A	6: 57,003,073	M218K	possibly damaging	Het
Zfp84	T	A	7: 29,777,303	Y473*	probably null	Het
Zyg11b	G	A	4: 108,266,213	P186S	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
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
R8671:Prkd1	UTSW	12	50388408	missense	probably benign	0.00
R8805:Prkd1	UTSW	12	50388372	missense	probably benign	0.45
R8805:Prkd1	UTSW	12	50388373	missense	probably damaging	0.99
R8839:Prkd1	UTSW	12	50342833	intron	probably benign
R9005:Prkd1	UTSW	12	50383402	nonsense	probably null
R9273:Prkd1	UTSW	12	50425449	missense	possibly damaging	0.94
R9281:Prkd1	UTSW	12	50489975	missense	probably benign	0.31
R9480:Prkd1	UTSW	12	50388500	missense	probably benign	0.19
R9497:Prkd1	UTSW	12	50391324	critical splice donor site	probably null
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'- GGTATGCTGGACTCCGCATGAC -3'
(R):5'- GCAGATCCTGCTTGAGATGTCCC -3'

Sequencing Primer
(F):5'- AGATGATATACTTCACCCTTGCAGTC -3'
(R):5'- GCAATTCACCATGCTAGAACTTAG -3'

Posted On

2014-04-13