Mutagenetix > Incidental Mutations

Incidental Mutation 'R0688:Prkd3'

61257

Institutional Source

Beutler Lab

Gene Symbol

Prkd3

Ensembl Gene

ENSMUSG00000024070

Gene Name

protein kinase D3

Synonyms

Prkcn, 5730497N19Rik, PKD3, 4930557O20Rik

MMRRC Submission

038873-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R0688 (G1)

Quality Score

183

Status

Not validated

Chromosome

Chromosomal Location

78949405-79020816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78957233 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 651 (M651K)

Ref Sequence

ENSEMBL: ENSMUSP00000132004 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000003191
AA Change: M651K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: M651K

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 damaging
Transcript: ENSMUST00000118768
AA Change: M557K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: M557K

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

probably damaging
Transcript: ENSMUST00000119284
AA Change: M652K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: M652K

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

probably damaging
Transcript: ENSMUST00000168887
AA Change: M651K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: M651K

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 95.1%

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	T	G	9: 104,124,100	V615G	probably damaging	Het
Apaf1	T	G	10: 91,061,705	E305D	possibly damaging	Het
Apol10b	A	G	15: 77,585,219	S253P	probably damaging	Het
Bbs9	T	A	9: 22,567,719	C153S	probably damaging	Het
Bicra	C	T	7: 15,989,322	G90D	probably damaging	Het
Clca4a	A	C	3: 144,961,974	L412R	probably damaging	Het
Cul3	A	T	1: 80,271,564	D597E	possibly damaging	Het
Cxcr5	A	G	9: 44,513,667		probably null	Het
Dnah10	T	C	5: 124,747,718	I646T	possibly damaging	Het
Focad	T	A	4: 88,274,213	V593D	unknown	Het
Fsip2	T	A	2: 82,982,339	S3001T	probably benign	Het
Ganab	T	A	19: 8,911,113	Y511N	probably damaging	Het
Gdf9	T	A	11: 53,436,640	L141Q	probably damaging	Het
Gm13083	T	C	4: 143,617,357	F409S	probably benign	Het
Gm4450	T	C	3: 98,456,394	E45G	probably benign	Het
Gpr180	A	G	14: 118,148,184	D136G	probably benign	Het
Itga2	G	T	13: 114,839,554	A1094E	probably benign	Het
Ly75	C	T	2: 60,316,221	A1238T	probably benign	Het
Macc1	T	C	12: 119,447,003	V502A	probably damaging	Het
Mroh4	T	C	15: 74,606,678	K923E	probably damaging	Het
Msh3	G	A	13: 92,351,431	P93S	possibly damaging	Het
Myo18a	A	G	11: 77,824,140	D474G	probably damaging	Het
Npat	T	A	9: 53,570,222	Y1077N	probably benign	Het
Olfr1214	A	T	2: 88,987,595	S202R	probably damaging	Het
Olfr427	A	C	1: 174,100,064	H202P	probably damaging	Het
Olfr52	A	T	2: 86,181,605		probably null	Het
Olfr816	T	G	10: 129,911,883	T132P	probably damaging	Het
Paqr5	T	G	9: 61,972,794	T59P	probably benign	Het
Phyhipl	C	T	10: 70,559,255	G329R	probably damaging	Het
Pomgnt1	T	C	4: 116,155,889	Y430H	probably damaging	Het
Puf60	A	T	15: 76,070,774	M440K	probably damaging	Het
Recql4	A	G	15: 76,709,809		probably null	Het
Sgk1	A	C	10: 21,998,160	M320L	probably benign	Het
Slc27a4	T	C	2: 29,812,615	F509S	probably damaging	Het
Sorbs1	T	C	19: 40,363,262	T235A	probably damaging	Het
Srrm3	A	G	5: 135,869,276		probably benign	Het
Tex15	C	T	8: 33,573,500	T986I	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Zswim4	T	C	8: 84,228,888	M301V	possibly damaging	Het

Other mutations in Prkd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Prkd3	APN	17	78954523	missense	probably benign	0.00
IGL01775:Prkd3	APN	17	79012760	missense	probably damaging	1.00
IGL01875:Prkd3	APN	17	78957206	missense	possibly damaging	0.95
IGL01892:Prkd3	APN	17	78972501	missense	probably benign	0.13
FR4304:Prkd3	UTSW	17	78975820	splice site	probably null
R0070:Prkd3	UTSW	17	78954510	missense	probably damaging	1.00
R0070:Prkd3	UTSW	17	78954510	missense	probably damaging	1.00
R0374:Prkd3	UTSW	17	78957215	missense	probably null	1.00
R1112:Prkd3	UTSW	17	78966408	missense	probably damaging	1.00
R1364:Prkd3	UTSW	17	78957258	missense	probably damaging	1.00
R1382:Prkd3	UTSW	17	78957245	missense	probably damaging	1.00
R1459:Prkd3	UTSW	17	78971367	missense	probably damaging	1.00
R1522:Prkd3	UTSW	17	78952696	missense	probably damaging	1.00
R1645:Prkd3	UTSW	17	78956520	critical splice donor site	probably null
R2035:Prkd3	UTSW	17	78975373	critical splice donor site	probably null
R2187:Prkd3	UTSW	17	78975554	missense	probably benign
R2250:Prkd3	UTSW	17	78968078	missense	probably benign	0.15
R2850:Prkd3	UTSW	17	78954596	missense	possibly damaging	0.89
R3625:Prkd3	UTSW	17	78985304	missense	probably damaging	1.00
R3773:Prkd3	UTSW	17	78959106	missense	possibly damaging	0.52
R3973:Prkd3	UTSW	17	78959141	splice site	probably benign
R4089:Prkd3	UTSW	17	78971388	missense	possibly damaging	0.64
R4407:Prkd3	UTSW	17	78983558	missense	probably damaging	1.00
R4453:Prkd3	UTSW	17	78983546	missense	probably damaging	1.00
R4697:Prkd3	UTSW	17	78961171	missense	probably benign	0.02
R4715:Prkd3	UTSW	17	78951937	missense	possibly damaging	0.73
R4754:Prkd3	UTSW	17	78956614	missense	probably damaging	1.00
R4955:Prkd3	UTSW	17	78952727	missense	probably null	0.95
R5412:Prkd3	UTSW	17	78954711	missense	possibly damaging	0.85
R6163:Prkd3	UTSW	17	78966355	missense	possibly damaging	0.94
R6280:Prkd3	UTSW	17	78981931	missense	probably damaging	0.97
R7074:Prkd3	UTSW	17	78974807	nonsense	probably null
R7153:Prkd3	UTSW	17	78966355	missense	probably benign	0.04
R7335:Prkd3	UTSW	17	78954566	missense	probably damaging	0.99
R7492:Prkd3	UTSW	17	78962545	nonsense	probably null
R7819:Prkd3	UTSW	17	78972501	missense	probably benign	0.13
R7962:Prkd3	UTSW	17	79008262	start codon destroyed	not run
X0063:Prkd3	UTSW	17	78956613	missense	probably damaging	1.00
X0066:Prkd3	UTSW	17	78961182	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCCCAGTCCACACAAGATAGTTG -3'
(R):5'- TATGTCGGTCAGTGTCACGTACCC -3'

Sequencing Primer
(F):5'- ttcttctgacctacactgacac -3'
(R):5'- CTTTGTCTAATACAAAAGGAAGGGTG -3'

Posted On

2013-07-30