Mutagenetix > Incidental Mutations

Incidental Mutation 'R1665:Prkd1'

187130

Institutional Source

Beutler Lab

Gene Symbol

Prkd1

Ensembl Gene

ENSMUSG00000002688

Gene Name

protein kinase D1

Synonyms

Prkcm, Pkcm, PKD1

MMRRC Submission

039701-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1665 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50341231-50649098 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50394926 bp

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]

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: 93.0%

Validation Efficiency

100% (87/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	G	A	17: 24,377,842	G423E	probably damaging	Het
Acox3	A	T	5: 35,603,027	H429L	probably damaging	Het
Afg1l	T	A	10: 42,426,577	K142N	probably damaging	Het
Aldh1a7	T	C	19: 20,727,461	I18V	probably benign	Het
Angel2	T	C	1: 190,937,467	Y115H	probably damaging	Het
Bsg	T	G	10: 79,711,518	N261K	probably damaging	Het
C2cd2l	A	T	9: 44,316,775	V83E	probably benign	Het
Caml	C	A	13: 55,631,971	L286I	probably benign	Het
Ccdc125	A	G	13: 100,693,573	I284V	probably benign	Het
Ces2a	G	A	8: 104,737,555		probably benign	Het
Cfap61	T	C	2: 146,035,319		probably null	Het
Creg2	C	T	1: 39,623,204	W253*	probably null	Het
Csmd3	T	C	15: 47,696,789	T2293A	probably damaging	Het
Cttnbp2	A	T	6: 18,434,983	I292K	probably benign	Het
Dab2ip	T	A	2: 35,720,278	M770K	probably damaging	Het
Dct	T	A	14: 118,034,251	D389V	probably damaging	Het
Dnah17	A	T	11: 118,121,495		probably benign	Het
Dnah6	T	C	6: 73,124,778	E1921G	probably benign	Het
Ehmt1	A	G	2: 24,877,464	S272P	probably damaging	Het
Ero1lb	T	C	13: 12,579,261		probably null	Het
Fnip2	A	G	3: 79,515,149	F108S	probably benign	Het
Foxb1	G	A	9: 69,759,822	A142V	probably damaging	Het
Fras1	A	T	5: 96,598,909	S613C	probably damaging	Het
Gm11639	A	G	11: 104,721,114	K594R	probably benign	Het
Gm7276	C	A	18: 77,185,570		probably benign	Het
Gnb4	A	C	3: 32,590,039	L152*	probably null	Het
H1fnt	G	T	15: 98,256,915	Q118K	probably benign	Het
Hdac7	A	G	15: 97,806,525	L119P	probably damaging	Het
Hsd17b4	G	A	18: 50,160,215	E274K	probably benign	Het
Htr4	T	C	18: 62,412,234	I30T	probably damaging	Het
Ikzf2	T	A	1: 69,538,814	Y512F	probably damaging	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Klhl22	C	A	16: 17,776,488	D160E	probably benign	Het
Kpna6	T	A	4: 129,657,471	R80S	probably benign	Het
Lclat1	A	G	17: 73,188,004	E142G	probably damaging	Het
Lrig3	T	C	10: 125,997,701	Y349H	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Map1b	T	A	13: 99,431,929	N1428I	unknown	Het
Map3k19	T	A	1: 127,817,656	T1354S	possibly damaging	Het
Med13l	T	A	5: 118,749,748	W1696R	probably damaging	Het
Mfn1	T	G	3: 32,534,322	V66G	probably benign	Het
Mllt10	A	T	2: 18,208,790	Q459L	possibly damaging	Het
Morc2a	G	A	11: 3,675,885	V162M	probably benign	Het
Muc15	C	T	2: 110,733,898	Q260*	probably null	Het
Nfkb1	T	C	3: 135,594,957	H616R	probably damaging	Het
Nr2c1	T	A	10: 94,188,183	W417R	probably damaging	Het
Olfr1279	T	C	2: 111,306,771	C189R	probably damaging	Het
Olfr1285	T	C	2: 111,408,753	Y113H	probably damaging	Het
Olfr1480	A	T	19: 13,529,838	H99L	probably damaging	Het
Olfr250	C	T	9: 38,367,566	H7Y	probably benign	Het
Olfr541	G	T	7: 140,704,794	C181F	probably damaging	Het
Olfr714	T	C	7: 107,074,274	S149P	probably damaging	Het
Pde10a	A	G	17: 8,898,870	D26G	probably damaging	Het
Pi15	G	T	1: 17,621,502	C176F	probably damaging	Het
Pou2f2	T	A	7: 25,092,724	T569S	possibly damaging	Het
Prf1	A	C	10: 61,302,887	E208A	probably benign	Het
Rc3h1	T	A	1: 160,959,423	V796E	probably benign	Het
Rgl1	T	C	1: 152,533,575	Y503C	probably damaging	Het
Ripk3	T	A	14: 55,786,351	H1L	probably benign	Het
Ryr1	C	T	7: 29,036,078	D4064N	probably damaging	Het
Sec63	T	A	10: 42,798,728		probably null	Het
Slco1a4	T	G	6: 141,839,577	M96L	possibly damaging	Het
Slit3	A	T	11: 35,234,906	R137S	possibly damaging	Het
Smad1	T	C	8: 79,372,029	E52G	probably damaging	Het
Srd5a2	A	T	17: 74,021,481	W201R	probably damaging	Het
Steap1	A	T	5: 5,736,498	L313Q	probably damaging	Het
Syt2	C	A	1: 134,747,620	A403D	probably damaging	Het
Tax1bp1	T	A	6: 52,736,912	S225R	probably benign	Het
Thap3	C	T	4: 151,985,704	V78M	probably damaging	Het
Thoc5	A	G	11: 4,919,792	K446R	probably benign	Het
Timmdc1	A	C	16: 38,510,717		probably null	Het
Tm6sf2	G	T	8: 70,078,930		probably benign	Het
Tmem126b	G	T	7: 90,475,971	A2E	probably damaging	Het
Trim9	T	A	12: 70,255,113	R584W	probably damaging	Het
Ttn	C	A	2: 76,830,856		probably benign	Het
Vmn1r25	A	T	6: 57,978,461	I281N	probably damaging	Het
Wdr59	A	G	8: 111,479,362	F553S	probably damaging	Het
Zc3h4	A	G	7: 16,429,580	M575V	unknown	Het
Zfp53	A	G	17: 21,509,504	T600A	probably damaging	Het
Zic5	A	G	14: 122,459,527	S559P	unknown	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
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
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'- CGCAGCGTTTGTGACAGTTGAATC -3'
(R):5'- TCAAGTGTATGACACGCATTCACCC -3'

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

Posted On

2014-05-09