Mutagenetix > Incidental Mutation

Incidental Mutation 'R5994:Prkd2'

481002

Institutional Source

Beutler Lab

Gene Symbol

Prkd2

Ensembl Gene

ENSMUSG00000041187

Gene Name

protein kinase D2

Synonyms

PKD2

MMRRC Submission

044173-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5994 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16842902-16870464 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 16850336 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 371 (H371Q)

Ref Sequence

ENSEMBL: ENSMUSP00000131192 (fasta)

Gene Model

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

AlphaFold

Q8BZ03

Predicted Effect

probably benign
Transcript: ENSMUST00000086104
AA Change: H371Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: H371Q

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 benign
Transcript: ENSMUST00000168093
AA Change: H371Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: H371Q

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: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,670,903	H1118L	probably benign	Het
Abca8b	A	G	11: 109,949,766		probably null	Het
Abcb5	A	T	12: 118,965,260		probably null	Het
Adcy6	A	T	15: 98,593,664	I1016N	probably damaging	Het
Afg3l2	A	T	18: 67,429,070	C312S	probably damaging	Het
Ano8	C	T	8: 71,484,834	V89M	probably damaging	Het
Arhgap21	C	T	2: 20,881,376	G330D	possibly damaging	Het
Caskin1	T	C	17: 24,496,961	L195P	probably damaging	Het
Cfap54	A	G	10: 93,039,081	I514T	probably damaging	Het
Ctdsp2	G	A	10: 126,995,820		probably benign	Het
Cyp4x1	T	C	4: 115,121,945	I152V	probably benign	Het
Dglucy	G	A	12: 100,842,700	R219Q	probably benign	Het
Disp3	G	T	4: 148,254,284	A810E	possibly damaging	Het
Dtx4	T	C	19: 12,501,153	Y22C	probably damaging	Het
Edaradd	A	T	13: 12,478,496	I105N	probably damaging	Het
Eepd1	C	T	9: 25,603,453	P519S	probably damaging	Het
Fscn3	A	T	6: 28,430,295	S155C	probably benign	Het
Gm10134	A	T	2: 28,506,246	E51V	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golga7	T	C	8: 23,250,265	E83G	probably benign	Het
Gpr12	T	C	5: 146,583,431	H227R	probably damaging	Het
Hoxa2	T	G	6: 52,164,392	S85R	possibly damaging	Het
Hrnr	T	C	3: 93,332,300	S3282P	unknown	Het
Ift74	C	A	4: 94,691,724	T543K	possibly damaging	Het
Klf10	C	A	15: 38,296,041	R420L	probably damaging	Het
Krt77	T	A	15: 101,862,855	I338F	probably damaging	Het
Limch1	A	T	5: 66,974,622	S152C	probably damaging	Het
Mgat4e	T	A	1: 134,541,496	H270L	probably benign	Het
Myrf	A	T	19: 10,219,117	L504Q	probably null	Het
Nckipsd	A	G	9: 108,813,977	Q366R	probably benign	Het
Npy5r	A	T	8: 66,682,099	V14D	probably benign	Het
Nrap	T	A	19: 56,351,599	R830*	probably null	Het
Ogfrl1	A	T	1: 23,378,989	Y103N	probably damaging	Het
Olfr978	A	T	9: 39,994,223	R138*	probably null	Het
P2rx4	T	A	5: 122,725,079	L232H	probably damaging	Het
Pabpc2	A	T	18: 39,773,894	T71S	probably benign	Het
Paip2b	C	A	6: 83,808,885	S121I	probably damaging	Het
Pofut1	C	T	2: 153,261,229	T261I	possibly damaging	Het
Ppp6c	G	T	2: 39,210,992	T46K	possibly damaging	Het
Prrc2c	A	T	1: 162,674,156		probably null	Het
Psd3	C	T	8: 67,719,968	A894T	probably damaging	Het
Pygm	A	T	19: 6,398,043		probably null	Het
Pzp	A	T	6: 128,491,597	M989K	probably damaging	Het
Ralgapa2	A	T	2: 146,361,453	S1159T	probably benign	Het
Rapgefl1	T	C	11: 98,850,160	F575L	probably benign	Het
Rassf6	A	G	5: 90,617,768	L28S	probably damaging	Het
Rbp3	G	T	14: 33,954,900	K268N	probably damaging	Het
Rela	C	T	19: 5,647,064	T433M	possibly damaging	Het
Rnf103	T	A	6: 71,496,910	S102R	probably damaging	Het
Scarf2	A	G	16: 17,806,379	N516S	probably damaging	Het
Sdcbp2	T	C	2: 151,587,483	I241T	probably damaging	Het
Sept7	T	C	9: 25,288,198	I131T	possibly damaging	Het
Sh3pxd2b	T	C	11: 32,407,570	F191L	probably damaging	Het
Siglec15	C	A	18: 78,047,375	C236F	probably damaging	Het
Slc11a2	T	C	15: 100,397,681	T520A	probably benign	Het
Slc26a11	C	A	11: 119,379,912	F553L	probably benign	Het
Smchd1	G	A	17: 71,365,409	P1596S	possibly damaging	Het
Taar7b	A	G	10: 24,000,348	H137R	probably damaging	Het
Thap12	T	A	7: 98,716,030	C468*	probably null	Het
Timp4	C	T	6: 115,247,354	G118D	probably damaging	Het
Tnnt3	A	G	7: 142,511,266	K48E	probably damaging	Het
Trmt10a	T	A	3: 138,156,714	I255N	probably damaging	Het
Ttll10	T	C	4: 156,048,732		probably null	Het
Ube4b	A	G	4: 149,372,932	Y283H	probably damaging	Het
Ucp1	G	T	8: 83,293,938	V126L	possibly damaging	Het
Unc13b	T	A	4: 43,172,596		probably benign	Het
Vps13b	T	C	15: 35,875,772	S2768P	probably damaging	Het
Zcchc6	T	G	13: 59,789,209	Y806S	probably damaging	Het
Zfp101	T	A	17: 33,380,962	M607L	probably benign	Het
Zfp292	C	T	4: 34,805,464	V2527M	possibly damaging	Het
Zfp503	T	A	14: 21,985,562	T429S	possibly damaging	Het

Other mutations in Prkd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00233:Prkd2	APN	7	16865862	missense	probably damaging	1.00
IGL01138:Prkd2	APN	7	16848811	missense	probably damaging	1.00
IGL01714:Prkd2	APN	7	16863942	missense	probably damaging	1.00
IGL01968:Prkd2	APN	7	16869576	splice site	probably null
IGL01969:Prkd2	APN	7	16865757	missense	probably damaging	1.00
IGL02354:Prkd2	APN	7	16847658	missense	probably damaging	1.00
IGL02361:Prkd2	APN	7	16847658	missense	probably damaging	1.00
IGL02504:Prkd2	APN	7	16857832	missense	probably damaging	1.00
IGL02804:Prkd2	APN	7	16855890	missense	probably benign	0.04
IGL02834:Prkd2	APN	7	16845934	missense	probably damaging	0.97
IGL02962:Prkd2	APN	7	16869832	missense	probably benign	0.01
IGL03053:Prkd2	APN	7	16850263	missense	possibly damaging	0.63
IGL03168:Prkd2	APN	7	16850263	missense	possibly damaging	0.63
alila	UTSW	7	16847654	missense	probably damaging	1.00
Beaches	UTSW	7	16849203	nonsense	probably null
Purnama	UTSW	7	16869565	missense	probably damaging	1.00
Sandals	UTSW	7	16865714	missense	probably damaging	1.00
R0024:Prkd2	UTSW	7	16847643	missense	probably damaging	1.00
R0173:Prkd2	UTSW	7	16849044	missense	probably benign
R0190:Prkd2	UTSW	7	16869890	missense	probably damaging	1.00
R0834:Prkd2	UTSW	7	16865677	splice site	probably benign
R1418:Prkd2	UTSW	7	16869545	missense	probably benign	0.03
R1488:Prkd2	UTSW	7	16858439	missense	probably damaging	1.00
R1648:Prkd2	UTSW	7	16857807	missense	possibly damaging	0.51
R2015:Prkd2	UTSW	7	16847677	nonsense	probably null
R2042:Prkd2	UTSW	7	16856268	missense	possibly damaging	0.86
R2101:Prkd2	UTSW	7	16869565	missense	probably damaging	1.00
R3884:Prkd2	UTSW	7	16853255	missense	probably benign	0.02
R4601:Prkd2	UTSW	7	16843648	unclassified	probably benign
R4979:Prkd2	UTSW	7	16848727	missense	probably damaging	1.00
R5240:Prkd2	UTSW	7	16855786	missense	probably benign	0.09
R5643:Prkd2	UTSW	7	16843792	missense	probably benign	0.02
R6033:Prkd2	UTSW	7	16865714	missense	probably damaging	1.00
R6033:Prkd2	UTSW	7	16865714	missense	probably damaging	1.00
R6361:Prkd2	UTSW	7	16847654	missense	probably damaging	1.00
R6738:Prkd2	UTSW	7	16865905	missense	possibly damaging	0.64
R6798:Prkd2	UTSW	7	16849203	nonsense	probably null
R6815:Prkd2	UTSW	7	16843793	missense	probably benign	0.00
R7241:Prkd2	UTSW	7	16857805	missense	probably benign	0.44
R7293:Prkd2	UTSW	7	16845940	missense	possibly damaging	0.88
R7323:Prkd2	UTSW	7	16847622	missense	probably benign	0.07
R7900:Prkd2	UTSW	7	16853344	missense	probably benign	0.01
R7943:Prkd2	UTSW	7	16850319	missense	probably benign	0.30
R8723:Prkd2	UTSW	7	16857777	missense	possibly damaging	0.90
R8729:Prkd2	UTSW	7	16849127	missense	probably damaging	1.00
R8923:Prkd2	UTSW	7	16865757	missense	probably damaging	1.00
R9111:Prkd2	UTSW	7	16850206	missense	probably benign	0.01
R9222:Prkd2	UTSW	7	16843774	missense	probably damaging	0.98
R9466:Prkd2	UTSW	7	16855771	missense	probably damaging	1.00
R9564:Prkd2	UTSW	7	16857819	missense	possibly damaging	0.92
X0062:Prkd2	UTSW	7	16855791	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGAGGTGAGGTAATTAGCATC -3'
(R):5'- TAAAGGCCTGCTCAGCTCAC -3'

Sequencing Primer
(F):5'- GGGATGGATGGAGGCCCTTC -3'
(R):5'- GCCCATCTTAAAGACAGG -3'

Posted On

2017-06-26