Mutagenetix > Incidental Mutation

Incidental Mutation 'R5263:Prkd1'

401565

Institutional Source

Beutler Lab

Gene Symbol

Prkd1

Ensembl Gene

ENSMUSG00000002688

Gene Name

protein kinase D1

Synonyms

PKD1, Prkcm, Pkcm

MMRRC Submission

042831-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5263 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50388014-50695881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50435089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 546 (L546P)

Ref Sequence

ENSEMBL: ENSMUSP00000002765 (fasta)

Gene Model

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

AlphaFold

Q62101

Predicted Effect

probably damaging
Transcript: ENSMUST00000002765
AA Change: L546P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: L546P

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: 98.5%
10x: 96.9%
20x: 94.4%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh4	G	T	3: 138,133,816 (GRCm39)	V309L	probably benign	Het
Agmo	T	C	12: 37,407,680 (GRCm39)	V188A	probably benign	Het
Aqr	A	G	2: 113,947,059 (GRCm39)	M1041T	probably damaging	Het
Arhgef4	T	A	1: 34,764,078 (GRCm39)	S1111R	possibly damaging	Het
Ascc3	A	C	10: 50,592,757 (GRCm39)	E1144D	probably benign	Het
Cct3	T	C	3: 88,228,672 (GRCm39)		probably null	Het
Cd209f	T	C	8: 4,154,506 (GRCm39)	T114A	probably benign	Het
Cgnl1	G	A	9: 71,539,936 (GRCm39)	Q1103*	probably null	Het
Cop1	G	A	1: 159,152,507 (GRCm39)	D586N	probably damaging	Het
Dcaf5	A	G	12: 80,395,120 (GRCm39)	S350P	probably damaging	Het
Dhx29	T	C	13: 113,084,755 (GRCm39)	C658R	probably damaging	Het
Dync1i1	G	A	6: 5,969,446 (GRCm39)	V424I	possibly damaging	Het
Gfap	C	T	11: 102,787,756 (GRCm39)	R63Q	probably damaging	Het
Gm10563	CTTT	CTTTATTT	4: 155,698,940 (GRCm39)		probably null	Het
Gprc6a	C	A	10: 51,502,900 (GRCm39)	G321V	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Izumo1r	A	G	9: 14,812,976 (GRCm39)	C99R	probably damaging	Het
Lrp1b	T	C	2: 41,850,691 (GRCm39)	D102G	probably damaging	Het
Mettl4	G	A	17: 95,047,937 (GRCm39)	Q235*	probably null	Het
Mmrn2	A	G	14: 34,121,541 (GRCm39)	T804A	probably benign	Het
Mrgprb5	A	G	7: 47,817,937 (GRCm39)	V266A	probably damaging	Het
Ntng1	T	C	3: 109,842,188 (GRCm39)	D195G	probably damaging	Het
Pld4	T	C	12: 112,731,465 (GRCm39)	L206P	probably damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Rhob	A	T	12: 8,549,232 (GRCm39)	M134K	probably benign	Het
Ryr3	A	G	2: 112,548,347 (GRCm39)	S3087P	possibly damaging	Het
Sema6c	T	C	3: 95,080,463 (GRCm39)	L887P	probably benign	Het
Sltm	T	C	9: 70,492,081 (GRCm39)	S648P	unknown	Het
Sucnr1	A	G	3: 59,994,190 (GRCm39)	I239M	possibly damaging	Het
Tgtp2	T	A	11: 48,950,090 (GRCm39)	M161L	probably damaging	Het
Trpm7	A	G	2: 126,663,137 (GRCm39)	V1037A	probably benign	Het
Vmn2r13	A	T	5: 109,321,841 (GRCm39)	H285Q	probably benign	Het
Zfp971	T	A	2: 177,675,555 (GRCm39)	C385S	probably damaging	Het
Zfpm2	T	A	15: 40,962,791 (GRCm39)	V283E	probably benign	Het
Zranb1	CTGATGATGATG	CTGATGATGATGATG	7: 132,584,556 (GRCm39)		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
R1669: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
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'- GCTTCCCTTCAGAGATTCCATG -3'
(R):5'- TGTCTGGAACCAGCAAAACC -3'

Sequencing Primer
(F):5'- GAGATTCCATGTTCTGCCACAAACTG -3'
(R):5'- AAAACCTTCAGCTTTAACTCCCGTTG -3'

Posted On

2016-07-06