Mutagenetix > Incidental Mutation

Incidental Mutation 'R4715:Prkd3'

353991

Institutional Source

Beutler Lab

Gene Symbol

Prkd3

Ensembl Gene

ENSMUSG00000024070

Gene Name

protein kinase D3

Synonyms

4930557O20Rik, PKD3, 5730497N19Rik, Prkcn

MMRRC Submission

041982-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R4715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79256834-79328245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79259366 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 864 (H864N)

Ref Sequence

ENSEMBL: ENSMUSP00000132004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003191] [ENSMUST00000024887] [ENSMUST00000118768] [ENSMUST00000119284] [ENSMUST00000168887]

AlphaFold

Q8K1Y2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003191
AA Change: H864N

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: H864N

Domain	Start	End	E-Value	Type
C1	155	204	1.95e-13	SMART
C1	272	321	1.26e-16	SMART
PH	417	534	1.18e-10	SMART
S_TKc	575	831	4.5e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000024887

SMART Domains

Protein: ENSMUSP00000024887
Gene: ENSMUSG00000024082

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_28	95	349	5.5e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118768
AA Change: H770N

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: H770N

Domain	Start	End	E-Value	Type
C1	60	109	1.95e-13	SMART
C1	177	226	1.26e-16	SMART
PH	322	439	1.18e-10	SMART
S_TKc	481	737	4.5e-90	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119284
AA Change: H865N

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: H865N

Domain	Start	End	E-Value	Type
C1	155	204	1.95e-13	SMART
C1	272	321	1.26e-16	SMART
PH	417	534	1.18e-10	SMART
S_TKc	576	832	4.5e-90	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168887
AA Change: H864N

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: H864N

Domain	Start	End	E-Value	Type
C1	155	204	1.95e-13	SMART
C1	272	321	1.26e-16	SMART
PH	417	534	1.18e-10	SMART
S_TKc	575	831	4.5e-90	SMART

Meta Mutation Damage Score

0.0786

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

92% (86/93)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal vertebral trabecular bone morphology and abnormal femur morphology. [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
Abcc2	A	C	19: 43,805,321 (GRCm39)	E725A	possibly damaging	Het
Abcc5	G	T	16: 20,217,626 (GRCm39)	L362I	probably damaging	Het
Ammecr1l	C	T	18: 31,907,706 (GRCm39)	R179*	probably null	Het
Arap2	G	T	5: 62,906,437 (GRCm39)	T194K	probably benign	Het
Atf2	C	A	2: 73,653,644 (GRCm39)	V282F	probably damaging	Het
Atosa	T	A	9: 74,920,250 (GRCm39)	W799R	probably damaging	Het
Atp1a1	T	C	3: 101,499,122 (GRCm39)	E159G	possibly damaging	Het
B4galt2	T	C	4: 117,734,376 (GRCm39)	S258G	possibly damaging	Het
Bptf	G	T	11: 106,938,007 (GRCm39)	H2695N	probably damaging	Het
Casq2	T	C	3: 102,017,560 (GRCm39)	V80A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,887 (GRCm39)	A11V	probably benign	Het
Cdh4	A	T	2: 179,422,260 (GRCm39)	H128L	probably benign	Het
Cdk5rap1	C	A	2: 154,203,755 (GRCm39)	*191L	probably null	Het
Cfdp1	G	A	8: 112,557,523 (GRCm39)	T206I	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Clpx	A	C	9: 65,219,396 (GRCm39)	R231S	possibly damaging	Het
Copg1	T	A	6: 87,889,268 (GRCm39)	L870*	probably null	Het
Cyp4a10	A	T	4: 115,382,535 (GRCm39)	D275V	probably benign	Het
Dip2a	T	C	10: 76,132,240 (GRCm39)	T504A	probably benign	Het
Dmxl2	A	C	9: 54,353,689 (GRCm39)		probably null	Het
Dnaaf5	A	T	5: 139,163,755 (GRCm39)	I671F	probably damaging	Het
Dnah14	A	G	1: 181,584,788 (GRCm39)	D3173G	probably damaging	Het
Dock2	T	C	11: 34,244,118 (GRCm39)	Y1074C	probably damaging	Het
Dthd1	A	C	5: 63,045,530 (GRCm39)	M765L	probably benign	Het
E2f3	A	C	13: 30,095,258 (GRCm39)	C220W	probably damaging	Het
Elf3	C	T	1: 135,185,490 (GRCm39)	S8N	probably damaging	Het
F2rl1	A	T	13: 95,649,775 (GRCm39)	V369E	probably damaging	Het
Fpr-rs7	C	T	17: 20,333,690 (GRCm39)	G267R	probably benign	Het
Ggact	A	T	14: 123,129,047 (GRCm39)	L56Q	possibly damaging	Het
Gm5546	T	C	3: 104,273,824 (GRCm39)		noncoding transcript	Het
Gm8267	A	G	14: 44,955,292 (GRCm39)	V243A	probably benign	Het
Gtf2h1	A	G	7: 46,464,836 (GRCm39)	T424A	possibly damaging	Het
Gucy1b2	A	G	14: 62,660,466 (GRCm39)	V140A	possibly damaging	Het
Htatip2	T	C	7: 49,420,592 (GRCm39)	L146P	probably damaging	Het
Htr1b	T	C	9: 81,513,563 (GRCm39)	D348G	possibly damaging	Het
Ifi205	T	C	1: 173,855,887 (GRCm39)	I48V	possibly damaging	Het
Igkv18-36	C	T	6: 69,969,575 (GRCm39)	R72K	probably damaging	Het
Kcnk7	T	C	19: 5,756,281 (GRCm39)	L169P	probably damaging	Het
Klf17	T	C	4: 117,617,733 (GRCm39)	D208G	probably benign	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Map4k4	G	A	1: 40,058,724 (GRCm39)	V1040I	probably damaging	Het
Mark1	A	G	1: 184,644,329 (GRCm39)	V445A	probably benign	Het
Med11	T	C	11: 70,344,022 (GRCm39)	I114T	probably benign	Het
Moxd2	A	G	6: 40,864,181 (GRCm39)	V83A	probably damaging	Het
Mrpl33	A	G	5: 31,773,702 (GRCm39)		probably benign	Het
Mrps27	A	G	13: 99,551,323 (GRCm39)		probably null	Het
Nop58	T	C	1: 59,735,185 (GRCm39)	V75A	probably benign	Het
Or13p5	T	C	4: 118,591,852 (GRCm39)	L42P	probably damaging	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2t46	A	G	11: 58,472,255 (GRCm39)	D195G	probably damaging	Het
Or4k42	A	C	2: 111,320,089 (GRCm39)	M138R	probably benign	Het
Or7g19	A	G	9: 18,856,742 (GRCm39)	H266R	probably benign	Het
Or7g26	C	A	9: 19,230,443 (GRCm39)	F210L	probably benign	Het
Pdzd2	G	T	15: 12,419,602 (GRCm39)	N263K	possibly damaging	Het
Podnl1	C	A	8: 84,852,690 (GRCm39)		probably benign	Het
Ptprd	T	C	4: 76,025,570 (GRCm39)	T543A	probably benign	Het
Pum2	T	A	12: 8,797,272 (GRCm39)	I788N	probably damaging	Het
Ralgapa1	T	A	12: 55,740,243 (GRCm39)	N1328I	probably damaging	Het
Rhoc	T	C	3: 104,701,355 (GRCm39)	L193P	probably damaging	Het
Rif1	T	C	2: 51,963,151 (GRCm39)		probably benign	Het
Rspo2	A	T	15: 42,939,300 (GRCm39)	C163*	probably null	Het
Sco1	A	G	11: 66,947,425 (GRCm39)	Y204C	probably damaging	Het
Shc2	T	C	10: 79,458,213 (GRCm39)	K490R	probably benign	Het
Siglec1	T	C	2: 130,916,356 (GRCm39)	D1198G	probably damaging	Het
Slc25a18	T	C	6: 120,763,051 (GRCm39)	V31A	probably damaging	Het
Smpd5	A	T	15: 76,179,893 (GRCm39)	I112L	probably benign	Het
Synpr	CT	C	14: 13,285,198 (GRCm38)		probably null	Het
Tdrd9	T	G	12: 112,008,123 (GRCm39)	S988A	probably benign	Het
Tiam2	T	A	17: 3,504,443 (GRCm39)	F982I	probably damaging	Het
Tmc3	G	A	7: 83,271,604 (GRCm39)	V919I	probably benign	Het
Tmed2b	A	T	9: 33,639,784 (GRCm39)		noncoding transcript	Het
Tmem200c	A	T	17: 69,147,465 (GRCm39)	D16V	probably damaging	Het
Tmem37	A	T	1: 119,995,935 (GRCm39)	D47E	probably damaging	Het
Top3a	T	A	11: 60,633,823 (GRCm39)	R733*	probably null	Het
Treh	T	C	9: 44,594,615 (GRCm39)	V8A	probably benign	Het
Trim17	A	C	11: 58,859,276 (GRCm39)		probably benign	Het
Ubash3b	T	C	9: 40,927,896 (GRCm39)	K471E	probably damaging	Het
Usp8	T	A	2: 126,571,142 (GRCm39)	L144Q	possibly damaging	Het
Wnk2	T	A	13: 49,300,708 (GRCm39)	M1L	unknown	Het
Yju2b	A	G	8: 84,990,503 (GRCm39)	I43T	probably damaging	Het

Other mutations in Prkd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Prkd3	APN	17	79,261,952 (GRCm39)	missense	probably benign	0.00
IGL01775:Prkd3	APN	17	79,320,189 (GRCm39)	missense	probably damaging	1.00
IGL01875:Prkd3	APN	17	79,264,635 (GRCm39)	missense	possibly damaging	0.95
IGL01892:Prkd3	APN	17	79,279,930 (GRCm39)	missense	probably benign	0.13
FR4304:Prkd3	UTSW	17	79,283,249 (GRCm39)	splice site	probably null
R0070:Prkd3	UTSW	17	79,261,939 (GRCm39)	missense	probably damaging	1.00
R0070:Prkd3	UTSW	17	79,261,939 (GRCm39)	missense	probably damaging	1.00
R0374:Prkd3	UTSW	17	79,264,644 (GRCm39)	missense	probably null	1.00
R0688:Prkd3	UTSW	17	79,264,662 (GRCm39)	missense	probably damaging	0.99
R1112:Prkd3	UTSW	17	79,273,837 (GRCm39)	missense	probably damaging	1.00
R1364:Prkd3	UTSW	17	79,264,687 (GRCm39)	missense	probably damaging	1.00
R1382:Prkd3	UTSW	17	79,264,674 (GRCm39)	missense	probably damaging	1.00
R1459:Prkd3	UTSW	17	79,278,796 (GRCm39)	missense	probably damaging	1.00
R1522:Prkd3	UTSW	17	79,260,125 (GRCm39)	missense	probably damaging	1.00
R1645:Prkd3	UTSW	17	79,263,949 (GRCm39)	critical splice donor site	probably null
R2035:Prkd3	UTSW	17	79,282,802 (GRCm39)	critical splice donor site	probably null
R2187:Prkd3	UTSW	17	79,282,983 (GRCm39)	missense	probably benign
R2250:Prkd3	UTSW	17	79,275,507 (GRCm39)	missense	probably benign	0.15
R2850:Prkd3	UTSW	17	79,262,025 (GRCm39)	missense	possibly damaging	0.89
R3625:Prkd3	UTSW	17	79,292,733 (GRCm39)	missense	probably damaging	1.00
R3773:Prkd3	UTSW	17	79,266,535 (GRCm39)	missense	possibly damaging	0.52
R3973:Prkd3	UTSW	17	79,266,570 (GRCm39)	splice site	probably benign
R4089:Prkd3	UTSW	17	79,278,817 (GRCm39)	missense	possibly damaging	0.64
R4407:Prkd3	UTSW	17	79,290,987 (GRCm39)	missense	probably damaging	1.00
R4453:Prkd3	UTSW	17	79,290,975 (GRCm39)	missense	probably damaging	1.00
R4697:Prkd3	UTSW	17	79,268,600 (GRCm39)	missense	probably benign	0.02
R4754:Prkd3	UTSW	17	79,264,043 (GRCm39)	missense	probably damaging	1.00
R4955:Prkd3	UTSW	17	79,260,156 (GRCm39)	missense	probably null	0.95
R5412:Prkd3	UTSW	17	79,262,140 (GRCm39)	missense	possibly damaging	0.85
R6163:Prkd3	UTSW	17	79,273,784 (GRCm39)	missense	possibly damaging	0.94
R6280:Prkd3	UTSW	17	79,289,360 (GRCm39)	missense	probably damaging	0.97
R7074:Prkd3	UTSW	17	79,282,236 (GRCm39)	nonsense	probably null
R7153:Prkd3	UTSW	17	79,273,784 (GRCm39)	missense	probably benign	0.04
R7335:Prkd3	UTSW	17	79,261,995 (GRCm39)	missense	probably damaging	0.99
R7492:Prkd3	UTSW	17	79,269,974 (GRCm39)	nonsense	probably null
R7819:Prkd3	UTSW	17	79,279,930 (GRCm39)	missense	probably benign	0.13
R7962:Prkd3	UTSW	17	79,315,691 (GRCm39)	start codon destroyed	not run
R8884:Prkd3	UTSW	17	79,282,193 (GRCm39)	missense	probably damaging	0.99
R8956:Prkd3	UTSW	17	79,278,883 (GRCm39)	missense	probably damaging	0.98
R9039:Prkd3	UTSW	17	79,280,003 (GRCm39)	missense	probably benign	0.01
R9110:Prkd3	UTSW	17	79,292,751 (GRCm39)	missense	probably damaging	1.00
R9139:Prkd3	UTSW	17	79,269,969 (GRCm39)	missense	possibly damaging	0.55
R9219:Prkd3	UTSW	17	79,273,628 (GRCm39)	missense	probably benign	0.13
R9399:Prkd3	UTSW	17	79,264,719 (GRCm39)	missense	probably damaging	1.00
R9466:Prkd3	UTSW	17	79,264,049 (GRCm39)	missense	probably damaging	0.97
R9566:Prkd3	UTSW	17	79,292,652 (GRCm39)	missense	probably damaging	1.00
X0063:Prkd3	UTSW	17	79,264,042 (GRCm39)	missense	probably damaging	1.00
X0066:Prkd3	UTSW	17	79,268,611 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGATGCCACAAGTCCTTC -3'
(R):5'- AGTGGCCAATTGTGTGACTAAG -3'

Sequencing Primer
(F):5'- CTGCCGCCTTGCAATGGTAG -3'
(R):5'- GGTTATAAACAAGAAGGGGCTGTC -3'

Posted On

2015-10-21