Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03309:Prkd1'

416498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Prkd1

Ensembl Gene

ENSMUSG00000002688

Gene Name

protein kinase D1

Synonyms

PKD1, Prkcm, Pkcm

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03309

Quality Score

Status

Chromosome

Chromosomal Location

50388014-50695881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50435207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 507 (Y507H)

Ref Sequence

ENSEMBL: ENSMUSP00000002765 (fasta)

Gene Model

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

AlphaFold

Q62101

Predicted Effect

probably damaging
Transcript: ENSMUST00000002765
AA Change: Y507H

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

SMART Domains

Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: Y507H

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

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,303 (GRCm39)	T334A	possibly damaging	Het
Armc9	A	G	1: 86,202,155 (GRCm39)	E771G	possibly damaging	Het
Cd207	G	T	6: 83,654,735 (GRCm39)	T16K	possibly damaging	Het
Cd44	C	T	2: 102,644,522 (GRCm39)	E421K	probably damaging	Het
Cfap221	A	G	1: 119,862,331 (GRCm39)	Y584H	probably damaging	Het
Clock	A	G	5: 76,379,241 (GRCm39)		probably null	Het
Clpx	T	G	9: 65,229,974 (GRCm39)	L474R	probably damaging	Het
Cntd1	T	C	11: 101,175,590 (GRCm39)	V143A	probably damaging	Het
Cttnbp2	A	G	6: 18,381,035 (GRCm39)	V877A	probably damaging	Het
Dlx6	G	T	6: 6,867,289 (GRCm39)	M158I	possibly damaging	Het
Fank1	A	G	7: 133,463,902 (GRCm39)	T33A	probably damaging	Het
Fbf1	A	G	11: 116,038,637 (GRCm39)	L828P	probably damaging	Het
Fh1	A	T	1: 175,431,609 (GRCm39)	S426T	probably benign	Het
Gabrg3	G	T	7: 56,632,433 (GRCm39)	Q172K	probably damaging	Het
Glipr1l1	A	G	10: 111,908,141 (GRCm39)		probably benign	Het
Hypk	T	A	2: 121,288,673 (GRCm39)	L113*	probably null	Het
Hypk	G	T	2: 121,288,674 (GRCm39)	L113F	probably damaging	Het
Ipo5	G	A	14: 121,157,416 (GRCm39)	V85I	probably benign	Het
Kif1a	A	T	1: 92,986,579 (GRCm39)	Y575*	probably null	Het
Morf4l1	T	A	9: 89,985,798 (GRCm39)	E60V	probably benign	Het
Or52ac1	A	G	7: 104,246,248 (GRCm39)	F47L	probably benign	Het
Or6c6	A	T	10: 129,187,178 (GRCm39)	T249S	probably benign	Het
Parp4	A	T	14: 56,825,265 (GRCm39)	T130S	probably benign	Het
Psme2b	A	C	11: 48,836,626 (GRCm39)		probably null	Het
Rbm44	T	C	1: 91,096,562 (GRCm39)		probably null	Het
Rngtt	C	A	4: 33,339,091 (GRCm39)	R299S	probably damaging	Het
Ros1	A	G	10: 51,994,357 (GRCm39)	S1308P	possibly damaging	Het
Rpl3l	A	G	17: 24,954,998 (GRCm39)	K398E	possibly damaging	Het
Scube3	C	T	17: 28,383,331 (GRCm39)	R374*	probably null	Het
Srcap	A	G	7: 127,129,965 (GRCm39)	T616A	probably damaging	Het
Stk3	G	A	15: 35,099,697 (GRCm39)		probably benign	Het
Tas2r124	A	T	6: 132,731,898 (GRCm39)	D69V	probably benign	Het
Zbtb41	T	A	1: 139,359,816 (GRCm39)		probably null	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
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
R5263:Prkd1	UTSW	12	50,435,089 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02