Mutagenetix > Incidental Mutation

Incidental Mutation 'R4979:Prkd2'

486809

Institutional Source

Beutler Lab

Gene Symbol

Prkd2

Ensembl Gene

ENSMUSG00000041187

Gene Name

protein kinase D2

Synonyms

PKD2

MMRRC Submission

042574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4979 (G1)

Quality Score

116

Status

Not validated

Chromosome

Chromosomal Location

16576827-16604386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16582652 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 172 (C172S)

Ref Sequence

ENSEMBL: ENSMUSP00000131192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086104] [ENSMUST00000168093]

AlphaFold

Q8BZ03

Predicted Effect

probably damaging
Transcript: ENSMUST00000086104
AA Change: C172S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: C172S

Domain	Start	End	E-Value	Type
low complexity region	2	43	N/A	INTRINSIC
C1	139	188	2.87e-11	SMART
C1	266	315	1.28e-17	SMART
low complexity region	353	373	N/A	INTRINSIC
PH	399	512	2.07e-6	SMART
S_TKc	552	808	6.12e-92	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168093
AA Change: C172S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: C172S

Domain	Start	End	E-Value	Type
low complexity region	2	43	N/A	INTRINSIC
C1	139	188	2.87e-11	SMART
C1	266	315	1.28e-17	SMART
low complexity region	353	373	N/A	INTRINSIC
PH	399	512	2.07e-6	SMART
S_TKc	552	808	6.12e-92	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205386

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205456

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205841

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205999

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

99% (79/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired IgM and IgG1 antigen responses and CD4+ and CD8+ T cell production of IL2 and IFN-gamma in response to TCR stimulation. Mice homozygous for a gene trap allele exhibit normal T lymphocyte maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	G	A	17: 9,220,643 (GRCm39)	E381K	probably damaging	Het
Abca1	T	C	4: 53,085,092 (GRCm39)		probably null	Het
Abca7	C	T	10: 79,840,617 (GRCm39)	Q870*	probably null	Het
Ambp	C	T	4: 63,070,888 (GRCm39)	V64M	probably benign	Het
Ank1	T	C	8: 23,622,212 (GRCm39)	V1542A	probably damaging	Het
Anln	T	C	9: 22,287,797 (GRCm39)	Y168C	probably benign	Het
Apoa4	T	A	9: 46,152,803 (GRCm39)	N29K	probably benign	Het
Arfgef1	T	C	1: 10,283,334 (GRCm39)	T192A	probably damaging	Het
Atad2b	G	T	12: 5,084,513 (GRCm39)	D1420Y	probably damaging	Het
Baiap3	A	G	17: 25,465,336 (GRCm39)	W648R	possibly damaging	Het
Bank1	A	G	3: 135,960,662 (GRCm39)	L198P	probably damaging	Het
Bicd2	A	G	13: 49,532,940 (GRCm39)	K509E	possibly damaging	Het
Cacna1e	T	C	1: 154,289,739 (GRCm39)	D1821G	probably damaging	Het
Ccdc80	G	A	16: 44,936,650 (GRCm39)	V692M	possibly damaging	Het
Ccdc88a	C	T	11: 29,432,133 (GRCm39)	Q308*	probably null	Het
Ccl8	T	C	11: 82,006,973 (GRCm39)	V62A	probably damaging	Het
Clspn	C	A	4: 126,472,179 (GRCm39)	P951Q	probably damaging	Het
Cngb1	T	A	8: 95,985,785 (GRCm39)	I858F	probably damaging	Het
Cspp1	T	A	1: 10,196,688 (GRCm39)	N900K	probably damaging	Het
Ctc1	C	T	11: 68,924,328 (GRCm39)	A960V	probably damaging	Het
Ctnnd2	A	G	15: 31,009,221 (GRCm39)	E1106G	probably damaging	Het
Dido1	C	T	2: 180,302,606 (GRCm39)	R1766H	probably damaging	Het
Dipk1a	A	T	5: 108,057,400 (GRCm39)	L386*	probably null	Het
Dnajc13	G	T	9: 104,063,922 (GRCm39)	N1341K	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
E2f8	G	A	7: 48,524,918 (GRCm39)		probably benign	Het
Entpd8	A	G	2: 24,972,967 (GRCm39)	D91G	possibly damaging	Het
Fars2	A	G	13: 36,388,564 (GRCm39)	R18G	possibly damaging	Het
Fcgbp	A	G	7: 27,816,995 (GRCm39)	S2486G	probably benign	Het
Fibin	C	T	2: 110,192,963 (GRCm39)	D60N	possibly damaging	Het
Fpgs	A	G	2: 32,577,379 (GRCm39)		probably benign	Het
Galnt15	A	G	14: 31,765,247 (GRCm39)	D303G	probably damaging	Het
Gli3	C	A	13: 15,899,049 (GRCm39)	T812K	possibly damaging	Het
Gpbar1	G	C	1: 74,318,404 (GRCm39)	A216P	probably benign	Het
Grin2d	A	G	7: 45,507,357 (GRCm39)	I448T	probably benign	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Iqce	G	T	5: 140,677,376 (GRCm39)	D148E	probably damaging	Het
Iqcg	T	A	16: 32,839,884 (GRCm39)	E354V	probably damaging	Het
Iws1	T	C	18: 32,226,320 (GRCm39)		probably benign	Het
Ly75	C	T	2: 60,206,238 (GRCm39)	G144S	probably damaging	Het
Marco	C	A	1: 120,421,954 (GRCm39)	M83I	probably benign	Het
Mettl6	A	T	14: 31,201,752 (GRCm39)	L185H	probably damaging	Het
Mppe1	C	T	18: 67,362,773 (GRCm39)	G154D	probably damaging	Het
Mrpl42	T	C	10: 95,326,237 (GRCm39)	E85G	probably benign	Het
Neb	A	G	2: 52,079,921 (GRCm39)	V5518A	probably damaging	Het
Or12d13	A	T	17: 37,647,759 (GRCm39)	F121L	probably benign	Het
Or52p1	T	A	7: 104,267,812 (GRCm39)	F317I	probably null	Het
Or5b105	A	T	19: 13,080,053 (GRCm39)	I199N	probably damaging	Het
Or7a42	T	A	10: 78,791,766 (GRCm39)	C242*	probably null	Het
Or7d10	G	T	9: 19,831,655 (GRCm39)	S50I	probably benign	Het
Perm1	A	G	4: 156,302,034 (GRCm39)	T193A	probably benign	Het
Prr23a3	T	A	9: 98,747,431 (GRCm39)	D128E	possibly damaging	Het
Prss28	A	G	17: 25,528,711 (GRCm39)	Y51C	probably damaging	Het
Psmb1	A	T	17: 15,696,451 (GRCm39)	M85K	probably benign	Het
Rae1	T	A	2: 172,854,401 (GRCm39)		probably benign	Het
Rasal1	A	G	5: 120,816,741 (GRCm39)	D759G	probably benign	Het
Rcvrn	G	A	11: 67,586,246 (GRCm39)	G2R	probably damaging	Het
Robo3	C	T	9: 37,334,640 (GRCm39)	A597T	probably damaging	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Homo
Sdcbp	T	A	4: 6,378,980 (GRCm39)	Y22*	probably null	Het
Sin3a	T	C	9: 57,025,360 (GRCm39)	F1069L	probably damaging	Het
Slitrk3	C	T	3: 72,957,129 (GRCm39)	V548I	possibly damaging	Het
Tbc1d22a	A	G	15: 86,275,287 (GRCm39)	H403R	probably damaging	Het
Tbr1	G	T	2: 61,635,593 (GRCm39)		probably null	Het
Tiam2	T	A	17: 3,555,985 (GRCm39)	D65E	probably damaging	Het
Tpcn2	A	G	7: 144,813,833 (GRCm39)	S488P	probably benign	Het
Trav9-2	T	C	14: 53,828,695 (GRCm39)	S22P	probably damaging	Het
Trim34a	T	A	7: 103,897,069 (GRCm39)	N44K	probably benign	Het
Unc79	C	G	12: 103,078,691 (GRCm39)	P1619A	probably benign	Het
Usp22	A	T	11: 61,048,042 (GRCm39)	V426E	probably damaging	Het
Vhl	A	T	6: 113,601,159 (GRCm39)	M20L	unknown	Het
Vmn1r215	G	A	13: 23,260,064 (GRCm39)	A35T	probably benign	Het
Vmn1r222	G	A	13: 23,416,602 (GRCm39)	L204F	possibly damaging	Het
Zfp871	A	T	17: 32,994,829 (GRCm39)	H115Q	probably damaging	Het
Zpr1	T	A	9: 46,189,640 (GRCm39)	F340L	probably benign	Het

Other mutations in Prkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Prkd2	APN	7	16,599,787 (GRCm39)	missense	probably damaging	1.00
IGL01138:Prkd2	APN	7	16,582,736 (GRCm39)	missense	probably damaging	1.00
IGL01714:Prkd2	APN	7	16,597,867 (GRCm39)	missense	probably damaging	1.00
IGL01968:Prkd2	APN	7	16,603,501 (GRCm39)	splice site	probably null
IGL01969:Prkd2	APN	7	16,599,682 (GRCm39)	missense	probably damaging	1.00
IGL02354:Prkd2	APN	7	16,581,583 (GRCm39)	missense	probably damaging	1.00
IGL02361:Prkd2	APN	7	16,581,583 (GRCm39)	missense	probably damaging	1.00
IGL02504:Prkd2	APN	7	16,591,757 (GRCm39)	missense	probably damaging	1.00
IGL02804:Prkd2	APN	7	16,589,815 (GRCm39)	missense	probably benign	0.04
IGL02834:Prkd2	APN	7	16,579,859 (GRCm39)	missense	probably damaging	0.97
IGL02962:Prkd2	APN	7	16,603,757 (GRCm39)	missense	probably benign	0.01
IGL03053:Prkd2	APN	7	16,584,188 (GRCm39)	missense	possibly damaging	0.63
IGL03168:Prkd2	APN	7	16,584,188 (GRCm39)	missense	possibly damaging	0.63
alila	UTSW	7	16,581,579 (GRCm39)	missense	probably damaging	1.00
Beaches	UTSW	7	16,583,128 (GRCm39)	nonsense	probably null
Purnama	UTSW	7	16,603,490 (GRCm39)	missense	probably damaging	1.00
Sandals	UTSW	7	16,599,639 (GRCm39)	missense	probably damaging	1.00
R0024:Prkd2	UTSW	7	16,581,568 (GRCm39)	missense	probably damaging	1.00
R0173:Prkd2	UTSW	7	16,582,969 (GRCm39)	missense	probably benign
R0190:Prkd2	UTSW	7	16,603,815 (GRCm39)	missense	probably damaging	1.00
R0834:Prkd2	UTSW	7	16,599,602 (GRCm39)	splice site	probably benign
R1418:Prkd2	UTSW	7	16,603,470 (GRCm39)	missense	probably benign	0.03
R1488:Prkd2	UTSW	7	16,592,364 (GRCm39)	missense	probably damaging	1.00
R1648:Prkd2	UTSW	7	16,591,732 (GRCm39)	missense	possibly damaging	0.51
R2015:Prkd2	UTSW	7	16,581,602 (GRCm39)	nonsense	probably null
R2042:Prkd2	UTSW	7	16,590,193 (GRCm39)	missense	possibly damaging	0.86
R2101:Prkd2	UTSW	7	16,603,490 (GRCm39)	missense	probably damaging	1.00
R3884:Prkd2	UTSW	7	16,587,180 (GRCm39)	missense	probably benign	0.02
R4601:Prkd2	UTSW	7	16,577,573 (GRCm39)	unclassified	probably benign
R5240:Prkd2	UTSW	7	16,589,711 (GRCm39)	missense	probably benign	0.09
R5643:Prkd2	UTSW	7	16,577,717 (GRCm39)	missense	probably benign	0.02
R5994:Prkd2	UTSW	7	16,584,261 (GRCm39)	missense	probably benign	0.00
R6033:Prkd2	UTSW	7	16,599,639 (GRCm39)	missense	probably damaging	1.00
R6033:Prkd2	UTSW	7	16,599,639 (GRCm39)	missense	probably damaging	1.00
R6361:Prkd2	UTSW	7	16,581,579 (GRCm39)	missense	probably damaging	1.00
R6738:Prkd2	UTSW	7	16,599,830 (GRCm39)	missense	possibly damaging	0.64
R6798:Prkd2	UTSW	7	16,583,128 (GRCm39)	nonsense	probably null
R6815:Prkd2	UTSW	7	16,577,718 (GRCm39)	missense	probably benign	0.00
R7241:Prkd2	UTSW	7	16,591,730 (GRCm39)	missense	probably benign	0.44
R7293:Prkd2	UTSW	7	16,579,865 (GRCm39)	missense	possibly damaging	0.88
R7323:Prkd2	UTSW	7	16,581,547 (GRCm39)	missense	probably benign	0.07
R7900:Prkd2	UTSW	7	16,587,269 (GRCm39)	missense	probably benign	0.01
R7943:Prkd2	UTSW	7	16,584,244 (GRCm39)	missense	probably benign	0.30
R8723:Prkd2	UTSW	7	16,591,702 (GRCm39)	missense	possibly damaging	0.90
R8729:Prkd2	UTSW	7	16,583,052 (GRCm39)	missense	probably damaging	1.00
R8923:Prkd2	UTSW	7	16,599,682 (GRCm39)	missense	probably damaging	1.00
R9111:Prkd2	UTSW	7	16,584,131 (GRCm39)	missense	probably benign	0.01
R9222:Prkd2	UTSW	7	16,577,699 (GRCm39)	missense	probably damaging	0.98
R9466:Prkd2	UTSW	7	16,589,696 (GRCm39)	missense	probably damaging	1.00
R9564:Prkd2	UTSW	7	16,591,744 (GRCm39)	missense	possibly damaging	0.92
X0062:Prkd2	UTSW	7	16,589,716 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AATTTCCTTCAGCGGCAGC -3'
(R):5'- ATCAGCGAATTAGCACCTGC -3'

Sequencing Primer
(F):5'- CACCGAATCTTGGGGTGCTAC -3'
(R):5'- TGGTGCCATTAGCCCTCAG -3'

Posted On

2017-08-17