Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:Prkd3'

312964

Institutional Source

Beutler Lab

Gene Symbol

Prkd3

Ensembl Gene

ENSMUSG00000024070

Gene Name

protein kinase D3

Synonyms

Prkcn, 5730497N19Rik, PKD3, 4930557O20Rik

MMRRC Submission

040841-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R3973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78949405-79020816 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 78959141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132004 (fasta)

Gene Model

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

AlphaFold

Q8K1Y2

Predicted Effect

probably benign
Transcript: ENSMUST00000003191

SMART Domains

Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070

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: ENSMUST00000118768

SMART Domains

Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070

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 benign
Transcript: ENSMUST00000119284

SMART Domains

Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070

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 benign
Transcript: ENSMUST00000168887

SMART Domains

Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,031	I486T	probably damaging	Het
4921501E09Rik	A	T	17: 33,066,431	S466T	probably benign	Het
4933427D14Rik	T	C	11: 72,198,741	R106G	probably damaging	Het
Cfap54	A	G	10: 92,839,471	S2863P	possibly damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170	A232V	probably damaging	Het
Dst	T	G	1: 34,011,898	V25G	probably benign	Het
Ehbp1	C	T	11: 22,137,867	A406T	probably benign	Het
Eml5	A	T	12: 98,802,465		probably benign	Het
Eps8	A	T	6: 137,509,155	M453K	probably benign	Het
Galnt3	T	C	2: 66,107,030	D112G	possibly damaging	Het
Glra4	C	T	X: 136,762,793	A336T	probably damaging	Het
Gmppb	A	G	9: 108,050,139	D95G	probably benign	Het
Gprc6a	T	C	10: 51,628,448	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,059,486	V247D	probably damaging	Het
Htr7	T	C	19: 36,056,760	D165G	probably damaging	Het
Igha	T	C	12: 113,256,352		probably benign	Het
Igsf10	A	G	3: 59,331,924	C279R	probably damaging	Het
Irak4	A	G	15: 94,554,740	E182G	possibly damaging	Het
Lipo3	A	T	19: 33,558,323	V274E	probably damaging	Het
Lrpprc	A	C	17: 84,770,841		probably null	Het
Mast1	T	C	8: 84,918,764	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363	F2382L	probably benign	Het
Mepe	C	T	5: 104,337,078	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,589,666	I171F	probably benign	Het
Muc2	T	A	7: 141,746,804		probably benign	Het
Myh3	C	T	11: 67,096,436	Q1371*	probably null	Het
Nodal	T	A	10: 61,423,054	V90E	probably benign	Het
Npas4	A	T	19: 4,986,551	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,824,236	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,754,586	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,641,816	D947G	probably damaging	Het
Pla2r1	A	G	2: 60,448,962	V758A	probably benign	Het
Plod2	G	T	9: 92,598,619	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,253,480	V660A	probably benign	Het
Prdm6	T	C	18: 53,540,206	I186T	possibly damaging	Het
Prrc2a	A	G	17: 35,157,932	L734P	probably damaging	Het
Rnf128	C	A	X: 139,664,522	L282I	probably damaging	Het
Rnf213	A	G	11: 119,469,053	N4424S		Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,767,848	S66T	probably benign	Het
Setd3	T	C	12: 108,165,158	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,158,210		probably null	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Spc25	A	G	2: 69,202,601	L60P	probably damaging	Het
Stam	A	C	2: 14,138,961	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,736,277	R254P	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trav7-4	A	G	14: 53,461,662	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,216,140	H361N	probably damaging	Het
Ugt2b1	C	A	5: 86,917,675	V502L	probably benign	Het
Vip	T	A	10: 5,642,590	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,218,697	M1025L	probably benign	Het
Zfp541	A	G	7: 16,072,222	D94G	probably 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
R0688:Prkd3	UTSW	17	78957233	missense	probably damaging	0.99
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
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
R8884:Prkd3	UTSW	17	78974764	missense	probably damaging	0.99
R8956:Prkd3	UTSW	17	78971454	missense	probably damaging	0.98
R9039:Prkd3	UTSW	17	78972574	missense	probably benign	0.01
R9110:Prkd3	UTSW	17	78985322	missense	probably damaging	1.00
R9139:Prkd3	UTSW	17	78962540	missense	possibly damaging	0.55
R9219:Prkd3	UTSW	17	78966199	missense	probably benign	0.13
R9399:Prkd3	UTSW	17	78957290	missense	probably damaging	1.00
R9466:Prkd3	UTSW	17	78956620	missense	probably damaging	0.97
R9566:Prkd3	UTSW	17	78985223	missense	probably damaging	1.00
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'- CAGCAGGGTGGGTCTTTAAAC -3'
(R):5'- CAGGCCATGGAGGTGTTATG -3'

Sequencing Primer
(F):5'- CAGGGTGGGTCTTTAAACTTTTATAC -3'
(R):5'- CCATGGAGGTGTTATGCCATTTCAG -3'

Posted On

2015-04-30