Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01762:Prkd1'

153279

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 #

IGL01762

Quality Score

Status

Chromosome

Chromosomal Location

50388014-50695881 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50434013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 577 (I577V)

Ref Sequence

ENSEMBL: ENSMUSP00000002765 (fasta)

Gene Model

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

AlphaFold

Q62101

Predicted Effect

probably benign
Transcript: ENSMUST00000002765
AA Change: I577V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: I577V

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030612E09Rik	T	A	10: 43,050,847 (GRCm39)	L47*	probably null	Het
Abca13	A	T	11: 9,265,423 (GRCm39)	T3033S	probably benign	Het
Atp1a2	C	A	1: 172,112,480 (GRCm39)	V503L	possibly damaging	Het
Cacna1e	T	A	1: 154,347,119 (GRCm39)	D770V	possibly damaging	Het
Camkk1	A	G	11: 72,921,627 (GRCm39)		probably null	Het
Cd34	T	A	1: 194,621,341 (GRCm39)	M23K	probably benign	Het
Cndp1	T	A	18: 84,640,411 (GRCm39)	I265F	probably damaging	Het
Cux2	A	G	5: 122,011,208 (GRCm39)	I574T	probably damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Galk1	A	G	11: 115,900,834 (GRCm39)	Y236H	probably damaging	Het
Gbp11	T	C	5: 105,475,473 (GRCm39)	I292V	probably benign	Het
Gprc5c	A	G	11: 114,754,850 (GRCm39)	I176V	probably benign	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Myh6	T	C	14: 55,199,538 (GRCm39)	K258E	probably benign	Het
Niban1	T	C	1: 151,512,242 (GRCm39)	V48A	probably damaging	Het
Nlrp9c	T	A	7: 26,084,850 (GRCm39)	D243V	probably damaging	Het
Nobox	T	G	6: 43,280,927 (GRCm39)	K516Q	probably damaging	Het
Nudcd3	A	G	11: 6,100,560 (GRCm39)	S195P	probably damaging	Het
Pde10a	T	C	17: 9,161,750 (GRCm39)	I477T	possibly damaging	Het
Pgbd5	C	T	8: 125,097,349 (GRCm39)	A394T	probably damaging	Het
Piezo1	G	A	8: 123,214,668 (GRCm39)	R1553*	probably null	Het
Prss34	T	C	17: 25,518,786 (GRCm39)	I256T	probably benign	Het
Ptprg	A	G	14: 12,037,386 (GRCm38)	T189A	probably benign	Het
Ptprr	C	T	10: 116,072,638 (GRCm39)	T200I	probably damaging	Het
Samd8	C	T	14: 21,830,168 (GRCm39)	P198L	probably damaging	Het
Sema3c	T	C	5: 17,899,849 (GRCm39)	L447P	possibly damaging	Het
Slc22a23	A	T	13: 34,387,984 (GRCm39)	F371I	possibly damaging	Het
Slc2a2	A	G	3: 28,771,621 (GRCm39)	R184G	probably damaging	Het
Slitrk6	T	A	14: 110,989,056 (GRCm39)	D217V	probably damaging	Het
Tlr2	A	G	3: 83,744,301 (GRCm39)	V594A	probably benign	Het
Vmn2r109	A	G	17: 20,774,654 (GRCm39)	F234L	probably benign	Het
Vmn2r12	A	C	5: 109,234,430 (GRCm39)	L594R	probably damaging	Het
Vmn2r124	A	G	17: 18,283,434 (GRCm39)	Q376R	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,856 (GRCm39)	D567G	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
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
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

2014-02-04