Mutagenetix > Incidental Mutations

Incidental Mutation 'R4697:Prkd3'

355803

Institutional Source

Beutler Lab

Gene Symbol

Prkd3

Ensembl Gene

ENSMUSG00000024070

Gene Name

protein kinase D3

Synonyms

Prkcn, 5730497N19Rik, PKD3, 4930557O20Rik

MMRRC Submission

041947-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.146) question?

Stock #

R4697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78949405-79020816 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78961171 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 572 (V572I)

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
AA Change: V572I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: V572I

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
AA Change: V478I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: V478I

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
AA Change: V573I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: V573I

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
AA Change: V572I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: V572I

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

0.0678

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,791,448	I455N	probably damaging	Het
A2m	T	C	6: 121,638,284	M1T	probably null	Het
Aatf	T	A	11: 84,449,138	D449V	probably damaging	Het
Acbd3	T	A	1: 180,721,944		probably benign	Het
BC005561	A	G	5: 104,522,240	K1543E	probably benign	Het
Bicc1	T	A	10: 70,953,484	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,649,749	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,525,485	V401A	probably damaging	Het
Cux2	T	C	5: 121,873,753	T540A	probably damaging	Het
Disp2	G	T	2: 118,791,684	E966*	probably null	Het
Dpp7	A	G	2: 25,354,919	Y209H	probably benign	Het
Dstyk	T	A	1: 132,449,487	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,694,408		probably null	Het
Ear-ps2	G	A	14: 44,047,060		noncoding transcript	Het
Ednra	T	C	8: 77,664,995	H422R	probably benign	Het
Erlec1	T	A	11: 30,952,640	I67F	probably benign	Het
Fam161b	G	A	12: 84,348,558		probably benign	Het
Gata5	A	T	2: 180,327,379	C345*	probably null	Het
Glmp	T	C	3: 88,328,274	V47A	probably damaging	Het
Gm9762	T	A	3: 78,966,550		noncoding transcript	Het
Gnas	A	T	2: 174,298,080	D14V	probably damaging	Het
Gnl3	T	C	14: 31,017,329	S53G	probably damaging	Het
Grhl3	C	T	4: 135,548,466	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,694,187	L281*	probably null	Het
Kif16b	T	G	2: 142,690,694	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,576,846	S204P	probably benign	Het
Klhl40	T	A	9: 121,778,734	I320N	probably damaging	Het
Ksr2	G	A	5: 117,708,147	R693Q	probably damaging	Het
Mis12	A	G	11: 71,025,326	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,974,777	C102R	probably damaging	Het
Muc5b	T	C	7: 141,857,361	I1348T	unknown	Het
Myh7b	A	G	2: 155,629,322	E1130G	probably damaging	Het
Nat8f4	T	C	6: 85,901,386	T52A	probably benign	Het
Nxpe2	C	A	9: 48,320,521	V379L	probably benign	Het
Olfr1231	C	A	2: 89,302,902	S230I	possibly damaging	Het
Olfr1231	T	A	2: 89,302,903	S230C	probably damaging	Het
Olfr1448	C	T	19: 12,919,934	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,313,717	D189E	probably benign	Het
Olfr288	G	A	15: 98,186,868	R310W	probably damaging	Het
Pcdhga7	A	T	18: 37,717,208	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,959,241	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,126,347	V1367A	possibly damaging	Het
Postn	T	A	3: 54,375,071	N484K	probably damaging	Het
Qser1	T	C	2: 104,787,183	S1005G	probably benign	Het
Radil	G	T	5: 142,486,801	D951E	probably benign	Het
Ripk1	C	T	13: 34,027,942	R352*	probably null	Het
Sacs	T	C	14: 61,212,747	F4081L	probably benign	Het
Sbf1	A	G	15: 89,315,085	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,934,587	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,638,284	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,052,641	P71L	probably benign	Het
Spns1	T	A	7: 126,377,037	D14V	probably damaging	Het
Sv2c	T	A	13: 95,986,018	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,893,516	M169K	probably benign	Het
Tgm1	A	T	14: 55,705,681	N567K	probably benign	Het
Tln2	C	T	9: 67,395,461	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,853,791	V1340A	probably benign	Het
Tspan18	A	T	2: 93,312,030		probably null	Het
Txndc11	C	T	16: 11,084,314	V679I	probably damaging	Het
Usf1	G	T	1: 171,416,964	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,454,452	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,741,826	I713F	probably damaging	Het
Vmn2r79	A	T	7: 87,037,960	I850F	probably damaging	Het
Wdr90	C	T	17: 25,855,363	R676H	probably benign	Het
Zfp867	G	A	11: 59,463,661	R281W	probably damaging	Het
Zfp939	T	C	7: 39,472,942		noncoding transcript	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
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
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
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'- AGTAATCTCCTGACCCTGCCAC -3'
(R):5'- AAGGCCAGGCTAACTTTCTC -3'

Sequencing Primer
(F):5'- TTTAGTTGGGAGCATATGAACCAGC -3'
(R):5'- GGCCAGGCTAACTTTCTCTAAAATC -3'

Posted On

2015-10-21