Mutagenetix > Incidental Mutation

Incidental Mutation 'R7492:Prkd3'

580880

Institutional Source

Beutler Lab

Gene Symbol

Prkd3

Ensembl Gene

ENSMUSG00000024070

Gene Name

protein kinase D3

Synonyms

4930557O20Rik, PKD3, 5730497N19Rik, Prkcn

MMRRC Submission

045566-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R7492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79256834-79328245 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 79269974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 562 (C562*)

Ref Sequence

ENSEMBL: ENSMUSP00000113395 (fasta)

Gene Model

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

AlphaFold

Q8K1Y2

Predicted Effect

probably null
Transcript: ENSMUST00000003191
AA Change: C561*

SMART Domains

Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: C561*

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 null
Transcript: ENSMUST00000118768
AA Change: C467*

SMART Domains

Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: C467*

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 null
Transcript: ENSMUST00000119284
AA Change: C562*

SMART Domains

Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: C562*

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 null
Transcript: ENSMUST00000168887
AA Change: C561*

SMART Domains

Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: C561*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 81,948,560 (GRCm39)	D819G	possibly damaging	Het
Abca13	A	T	11: 9,243,167 (GRCm39)	I1677L	probably benign	Het
Ablim2	A	G	5: 35,998,673 (GRCm39)	S367G	probably benign	Het
Afdn	G	C	17: 14,068,638 (GRCm39)		probably null	Het
Aldh6a1	A	G	12: 84,483,640 (GRCm39)	L302P	probably damaging	Het
Ank3	A	G	10: 69,718,357 (GRCm39)	D536G	unknown	Het
Ankrd17	A	G	5: 90,381,807 (GRCm39)	V2454A	possibly damaging	Het
Apol7e	G	A	15: 77,601,656 (GRCm39)	E85K	possibly damaging	Het
Atmin	A	G	8: 117,683,657 (GRCm39)	D439G	probably damaging	Het
AU040320	G	T	4: 126,741,648 (GRCm39)	C952F	possibly damaging	Het
Btbd8	G	A	5: 107,658,373 (GRCm39)	E1648K	probably benign	Het
C6	A	G	15: 4,761,196 (GRCm39)	S19G	probably benign	Het
Ccdc180	A	T	4: 45,930,009 (GRCm39)		probably null	Het
Cntn1	A	C	15: 92,212,423 (GRCm39)	T862P	probably benign	Het
Col5a1	T	C	2: 27,859,812 (GRCm39)		probably null	Het
D430041D05Rik	T	C	2: 104,031,650 (GRCm39)	K964E	probably damaging	Het
Dnajc18	T	C	18: 35,819,846 (GRCm39)	Y145C	probably damaging	Het
Dsc1	C	T	18: 20,240,737 (GRCm39)	C196Y	possibly damaging	Het
Efcab11	A	C	12: 99,844,660 (GRCm39)	I58R	possibly damaging	Het
Fam81b	T	A	13: 76,419,398 (GRCm39)	I51F	probably benign	Het
Fbln1	G	A	15: 85,111,262 (GRCm39)	V139M	probably damaging	Het
Fbxw25	A	G	9: 109,493,598 (GRCm39)		probably null	Het
Fech	C	T	18: 64,600,842 (GRCm39)	W220*	probably null	Het
Fgl1	C	T	8: 41,644,624 (GRCm39)	W293*	probably null	Het
Firrm	A	G	1: 163,786,897 (GRCm39)	I724T	probably benign	Het
Foxi2	T	C	7: 135,012,301 (GRCm39)	L63P	probably damaging	Het
Frmpd1	A	G	4: 45,285,237 (GRCm39)	R1353G	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Galnt5	T	A	2: 57,916,048 (GRCm39)		probably null	Het
Glb1	A	T	9: 114,303,017 (GRCm39)	I618F	probably damaging	Het
Hs2st1	A	T	3: 144,141,357 (GRCm39)	M237K	probably benign	Het
Ighm	T	C	12: 113,386,293 (GRCm39)	D19G		Het
Il1f10	A	G	2: 24,182,829 (GRCm39)	D35G	probably benign	Het
Itpr2	G	A	6: 146,292,436 (GRCm39)	T419I	probably damaging	Het
Khdc1a	A	T	1: 21,420,542 (GRCm39)	E54V	possibly damaging	Het
Kif19a	A	G	11: 114,681,065 (GRCm39)	D991G	probably benign	Het
Klhl18	A	C	9: 110,257,843 (GRCm39)	Y532*	probably null	Het
Lama1	T	C	17: 68,124,646 (GRCm39)	F2902S		Het
Lrba	T	C	3: 86,571,835 (GRCm39)	S2380P	probably damaging	Het
Lrp2	T	A	2: 69,367,925 (GRCm39)	I196F	probably damaging	Het
Macf1	T	C	4: 123,369,524 (GRCm39)	K1746E	possibly damaging	Het
Megf10	T	C	18: 57,424,866 (GRCm39)	Y1002H	probably benign	Het
Megf8	A	G	7: 25,053,273 (GRCm39)	T1815A	probably benign	Het
Mtg1	T	C	7: 139,724,610 (GRCm39)	L162P	probably damaging	Het
Myo6	T	A	9: 80,195,328 (GRCm39)	Y899*	probably null	Het
Nlrp9a	A	T	7: 26,257,081 (GRCm39)	D233V	probably damaging	Het
Or10al6	A	T	17: 38,082,571 (GRCm39)	Q9L	possibly damaging	Het
Or2z2	T	A	11: 58,346,715 (GRCm39)	N20I	probably benign	Het
Or4k45	C	A	2: 111,395,166 (GRCm39)	V208L	probably benign	Het
Or6c201	T	A	10: 128,969,509 (GRCm39)	I43F	probably damaging	Het
Or8k36-ps1	T	A	2: 86,437,063 (GRCm39)	N284I	unknown	Het
Parvb	A	T	15: 84,174,651 (GRCm39)	Q148L	probably damaging	Het
Pcdhb11	C	T	18: 37,556,497 (GRCm39)	T609M	probably damaging	Het
Pcdhga3	A	T	18: 37,809,178 (GRCm39)	T544S	probably benign	Het
Pkd1	C	G	17: 24,788,715 (GRCm39)	I824M	probably benign	Het
Pkd1l2	A	T	8: 117,794,849 (GRCm39)	L370Q	probably damaging	Het
Plcb1	G	T	2: 135,093,684 (GRCm39)	E166*	probably null	Het
Pnpt1	A	G	11: 29,085,522 (GRCm39)	I138V	probably benign	Het
Pou4f3	T	C	18: 42,528,996 (GRCm39)	L313P	probably damaging	Het
Pramel21	C	A	4: 143,342,744 (GRCm39)	Q284K	not run	Het
Prep	A	G	10: 44,996,910 (GRCm39)	Y396C	probably damaging	Het
Prss12	T	A	3: 123,276,425 (GRCm39)	C351*	probably null	Het
Rnf41	C	A	10: 128,274,283 (GRCm39)	H312N	probably damaging	Het
Ror1	C	T	4: 100,298,256 (GRCm39)	T543I	probably benign	Het
Rreb1	G	A	13: 38,115,724 (GRCm39)	V1028I	probably benign	Het
Setd2	T	A	9: 110,423,700 (GRCm39)	S474T		Het
Slc1a2	T	A	2: 102,570,275 (GRCm39)	C184*	probably null	Het
Slc2a4	G	A	11: 69,837,202 (GRCm39)	T78I	probably benign	Het
Slc4a4	T	A	5: 89,277,509 (GRCm39)	I317N	possibly damaging	Het
Smad9	G	A	3: 54,693,747 (GRCm39)		probably null	Het
Sst	T	C	16: 23,708,576 (GRCm39)	E85G	probably damaging	Het
Sting1	T	C	18: 35,871,766 (GRCm39)	Y162C	probably damaging	Het
Svep1	T	G	4: 58,066,468 (GRCm39)	E3205D	possibly damaging	Het
Tmc7	G	T	7: 118,141,189 (GRCm39)	S647R	probably benign	Het
Trnt1	T	C	6: 106,751,493 (GRCm39)	S157P	possibly damaging	Het
Ttc6	A	T	12: 57,719,922 (GRCm39)	H831L	probably benign	Het
Vmn1r121	A	G	7: 20,832,095 (GRCm39)	F115S	probably damaging	Het
Vwa7	A	G	17: 35,238,020 (GRCm39)	D207G	possibly damaging	Het
Vwde	C	A	6: 13,204,980 (GRCm39)	K300N	probably null	Het
Zfp418	A	G	7: 7,184,396 (GRCm39)	T120A	possibly damaging	Het
Zfp687	C	T	3: 94,914,841 (GRCm39)	R1220H	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
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
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'- AGTCTGACTCCCAGGATTCG -3'
(R):5'- TGAGCCCTTAGTAGGACATTATGTC -3'

Sequencing Primer
(F):5'- TCCCAGGATTCGGGGTTCATC -3'
(R):5'- GACATTATGTCACAGATCTATGCTG -3'

Posted On

2019-10-17