Mutagenetix > Incidental Mutation

Incidental Mutation 'R1522:Prkd3'

167581

Institutional Source

Beutler Lab

Gene Symbol

Prkd3

Ensembl Gene

ENSMUSG00000024070

Gene Name

protein kinase D3

Synonyms

4930557O20Rik, PKD3, 5730497N19Rik, Prkcn

MMRRC Submission

040871-MU

Accession Numbers

Essential gene?

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

Stock #

R1522 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79256834-79328245 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 79260125 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 826 (L826R)

Ref Sequence

ENSEMBL: ENSMUSP00000132004 (fasta)

Gene Model

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

AlphaFold

Q8K1Y2

Predicted Effect

probably damaging
Transcript: ENSMUST00000003191
AA Change: L826R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: L826R

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 damaging
Transcript: ENSMUST00000118768
AA Change: L732R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: L732R

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: L827R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: L827R

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: L826R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: L826R

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: 99.0%
3x: 98.1%
10x: 95.8%
20x: 91.1%

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	T	C	6: 83,139,568 (GRCm39)	S498P	probably damaging	Het
3100002H09Rik	A	G	4: 124,504,487 (GRCm39)	W22R	probably damaging	Het
AA986860	A	G	1: 130,670,831 (GRCm39)	E351G	probably damaging	Het
Acsl5	T	C	19: 55,268,924 (GRCm39)	V195A	probably benign	Het
Actmap	A	G	7: 26,902,105 (GRCm39)	H244R	probably damaging	Het
Adamts10	A	G	17: 33,756,293 (GRCm39)	D312G	probably benign	Het
Adgrb1	A	G	15: 74,452,466 (GRCm39)	M211V	probably damaging	Het
Ankfy1	C	T	11: 72,646,693 (GRCm39)	R859*	probably null	Het
Atp8b1	T	A	18: 64,683,503 (GRCm39)	I742L	probably benign	Het
B3galnt2	T	A	13: 14,145,354 (GRCm39)	V89E	probably damaging	Het
Brinp3	A	C	1: 146,777,628 (GRCm39)	T692P	probably damaging	Het
C9	T	A	15: 6,516,243 (GRCm39)	F349I	probably damaging	Het
Cacna1a	T	A	8: 85,360,062 (GRCm39)	M1976K	probably benign	Het
Castor2	T	G	5: 134,154,726 (GRCm39)	S43R	probably damaging	Het
Ccdc180	T	C	4: 45,927,975 (GRCm39)	V1170A	possibly damaging	Het
Celsr1	A	G	15: 85,815,477 (GRCm39)	V1846A	probably benign	Het
Ces1f	A	T	8: 93,998,517 (GRCm39)	Y160N	possibly damaging	Het
Cfap45	A	G	1: 172,368,139 (GRCm39)	E377G	probably damaging	Het
Clca3a1	T	A	3: 144,460,932 (GRCm39)	M240L	probably benign	Het
Clnk	G	A	5: 38,952,309 (GRCm39)	T10M	probably damaging	Het
Cntrl	T	A	2: 35,045,291 (GRCm39)	I781K	possibly damaging	Het
Col11a2	G	A	17: 34,274,228 (GRCm39)	G375S	probably damaging	Het
Col6a5	T	A	9: 105,817,193 (GRCm39)	I373F	unknown	Het
Dmxl1	C	T	18: 49,985,434 (GRCm39)	A227V	probably benign	Het
Dok5	A	G	2: 170,574,052 (GRCm39)	N4D	probably benign	Het
Dpysl3	A	T	18: 43,496,622 (GRCm39)	V138D	probably damaging	Het
Efs	A	T	14: 55,157,172 (GRCm39)	Y380N	probably damaging	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Farp2	A	G	1: 93,546,275 (GRCm39)	Q855R	possibly damaging	Het
Fcrl2	A	C	3: 87,164,014 (GRCm39)	S372A	possibly damaging	Het
Gadl1	C	T	9: 115,773,297 (GRCm39)	A113V	probably damaging	Het
Gda	T	A	19: 21,389,903 (GRCm39)	E219D	probably benign	Het
Gli1	A	T	10: 127,168,446 (GRCm39)	M469K	probably damaging	Het
Gm4847	A	T	1: 166,469,219 (GRCm39)	S148R	probably damaging	Het
Golga2	T	C	2: 32,192,216 (GRCm39)	V325A	probably benign	Het
Hpf1	A	G	8: 61,349,783 (GRCm39)	D137G	probably damaging	Het
Htr2a	C	G	14: 74,943,293 (GRCm39)	S291*	probably null	Het
Itga5	G	A	15: 103,265,209 (GRCm39)	Q233*	probably null	Het
Jazf1	C	A	6: 52,789,168 (GRCm39)	R102L	probably damaging	Het
Kif6	T	G	17: 50,021,141 (GRCm39)	L322R	probably damaging	Het
Ktn1	A	C	14: 47,904,873 (GRCm39)	K217T	probably damaging	Het
Lig4	A	T	8: 10,023,012 (GRCm39)	V256E	possibly damaging	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Lrp1	A	T	10: 127,411,155 (GRCm39)	D1399E	probably benign	Het
Mmel1	A	G	4: 154,979,443 (GRCm39)	E717G	probably damaging	Het
Mndal	G	T	1: 173,699,032 (GRCm39)	P155H	possibly damaging	Het
Mycbpap	A	G	11: 94,402,449 (GRCm39)		probably null	Het
Nedd1	T	C	10: 92,555,476 (GRCm39)	E3G	probably damaging	Het
Nlgn1	A	T	3: 25,490,073 (GRCm39)	N551K	probably damaging	Het
Nup210	G	A	6: 91,046,148 (GRCm39)	P595L	possibly damaging	Het
Or2ag15	A	G	7: 106,340,212 (GRCm39)	C310R	probably benign	Het
Or2g25	A	T	17: 37,970,661 (GRCm39)	C188S	probably damaging	Het
Or4k52	A	T	2: 111,610,693 (GRCm39)		probably null	Het
Or5ac17	T	G	16: 59,036,347 (GRCm39)	T210P	probably damaging	Het
Or5p56	A	G	7: 107,589,740 (GRCm39)	H56R	probably benign	Het
Pank3	G	A	11: 35,672,508 (GRCm39)	V304M	probably benign	Het
Phf3	G	A	1: 30,844,729 (GRCm39)	T1410I	probably benign	Het
Ppm1k	A	G	6: 57,502,142 (GRCm39)	I7T	possibly damaging	Het
Ppp1r12c	T	C	7: 4,500,424 (GRCm39)	D73G	probably damaging	Het
Prelid2	T	G	18: 42,014,332 (GRCm39)	M165L	probably benign	Het
Ptchd4	A	T	17: 42,814,433 (GRCm39)	N778I	probably damaging	Het
Ptprm	T	C	17: 67,000,866 (GRCm39)	D1063G	possibly damaging	Het
Rab27a	C	A	9: 72,982,764 (GRCm39)	T23N	probably damaging	Het
Rasgrf2	A	T	13: 92,044,205 (GRCm39)	F949L	probably benign	Het
Rbm33	A	G	5: 28,542,002 (GRCm39)	N68D	probably damaging	Het
Rgl1	A	T	1: 152,462,284 (GRCm39)	L109Q	probably damaging	Het
Rnf20	A	G	4: 49,638,197 (GRCm39)	N103S	possibly damaging	Het
Sbno1	G	A	5: 124,530,675 (GRCm39)	L875F	probably damaging	Het
Scube1	T	A	15: 83,512,277 (GRCm39)		probably null	Het
Selenbp1	G	A	3: 94,844,669 (GRCm39)	V109M	probably damaging	Het
Serpina3c	T	A	12: 104,117,805 (GRCm39)	I178F	probably damaging	Het
Shisa8	C	T	15: 82,092,702 (GRCm39)	G63D	probably damaging	Het
Snx14	T	C	9: 88,284,277 (GRCm39)	R464G	possibly damaging	Het
Snx25	A	T	8: 46,577,119 (GRCm39)	M1K	probably null	Het
Sorcs3	C	A	19: 48,694,448 (GRCm39)	T574K	possibly damaging	Het
Syne2	A	G	12: 76,150,557 (GRCm39)	E6528G	probably damaging	Het
Syt5	T	C	7: 4,543,245 (GRCm39)	E338G	probably damaging	Het
Tbk1	T	C	10: 121,387,223 (GRCm39)	K691E	probably benign	Het
Tenm3	G	A	8: 48,848,611 (GRCm39)	T11I	probably damaging	Het
Thrb	A	G	14: 18,002,597 (GRCm38)	H87R	probably damaging	Het
Tlr4	T	A	4: 66,757,933 (GRCm39)	M242K	possibly damaging	Het
Tm4sf19	T	C	16: 32,224,820 (GRCm39)	M56T	possibly damaging	Het
Tmem212	T	A	3: 27,940,620 (GRCm39)	R66*	probably null	Het
Tmem39b	G	T	4: 129,578,275 (GRCm39)	D315E	probably benign	Het
Tnxb	T	C	17: 34,937,612 (GRCm39)	F3834L	probably damaging	Het
Trim36	A	T	18: 46,319,250 (GRCm39)	L225*	probably null	Het
Trim42	A	T	9: 97,247,732 (GRCm39)	H321Q	probably damaging	Het
Trio	G	T	15: 27,732,726 (GRCm39)	Q3052K	probably benign	Het
Trpm3	T	C	19: 22,955,698 (GRCm39)	I1091T	probably benign	Het
Tst	T	C	15: 78,284,143 (GRCm39)	E228G	possibly damaging	Het
Ttn	T	C	2: 76,702,060 (GRCm39)		probably benign	Het
Uap1	A	C	1: 169,978,510 (GRCm39)		probably null	Het
Ush2a	T	C	1: 188,530,011 (GRCm39)	S3267P	possibly damaging	Het
Usp5	T	C	6: 124,802,129 (GRCm39)	T38A	probably benign	Het
Uvssa	A	T	5: 33,545,152 (GRCm39)	Q84L	probably damaging	Het
Vmn1r159	T	G	7: 22,542,693 (GRCm39)	H113P	probably damaging	Het
Vps13d	A	T	4: 144,824,742 (GRCm39)		probably null	Het
Zfp182	T	A	X: 20,897,799 (GRCm39)	I166L	probably benign	Het
Zfp811	A	T	17: 33,016,622 (GRCm39)	Y472N	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
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
R4715:Prkd3	UTSW	17	79,259,366 (GRCm39)	missense	possibly damaging	0.73
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'- ATGGCACGATAATGACCACCGAG -3'
(R):5'- AGCACAAGTCAGCCTGGCAATC -3'

Sequencing Primer
(F):5'- GAGGACGATGCAGAGTACTT -3'
(R):5'- agcctggcaatctggcg -3'

Posted On

2014-04-13