Mutagenetix > Incidental Mutation

Incidental Mutation 'R7323:Prkd2'

568280

Institutional Source

Beutler Lab

Gene Symbol

Prkd2

Ensembl Gene

ENSMUSG00000041187

Gene Name

protein kinase D2

Synonyms

PKD2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7323 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

16576827-16604386 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16581547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 134 (F134S)

Ref Sequence

ENSEMBL: ENSMUSP00000083273 (fasta)

Gene Model

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

AlphaFold

Q8BZ03

Predicted Effect

probably benign
Transcript: ENSMUST00000086104
AA Change: F134S

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: F134S

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: F134S

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: F134S

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

Meta Mutation Damage Score

0.2011

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	C	A	5: 100,126,945 (GRCm39)	A9E	unknown	Het
6030452D12Rik	A	T	8: 107,227,411 (GRCm39)		probably null	Het
Abcb11	C	A	2: 69,117,979 (GRCm39)	Q466H	probably damaging	Het
Adam20	A	G	8: 41,248,421 (GRCm39)	D177G	probably benign	Het
Ampd1	A	T	3: 102,992,696 (GRCm39)	Q150L	probably benign	Het
Angpt2	A	C	8: 18,755,840 (GRCm39)	M209R	probably benign	Het
Aoc2	G	A	11: 101,219,371 (GRCm39)	R598Q	probably damaging	Het
Arap1	A	G	7: 101,049,418 (GRCm39)	D960G	probably damaging	Het
Bhlhe40	G	C	6: 108,642,242 (GRCm39)	L395F	probably benign	Het
Cacna1i	T	C	15: 80,275,854 (GRCm39)	C1882R	possibly damaging	Het
Ccr6	A	G	17: 8,475,611 (GRCm39)	N272S	possibly damaging	Het
Ces1f	A	T	8: 93,998,472 (GRCm39)	W175R	probably damaging	Het
Ces3a	A	C	8: 105,782,239 (GRCm39)	H364P	possibly damaging	Het
Cfap54	T	C	10: 92,637,000 (GRCm39)	M3130V	probably benign	Het
Clca3b	G	A	3: 144,531,681 (GRCm39)	P708S	possibly damaging	Het
Cps1	A	T	1: 67,197,028 (GRCm39)	T360S	probably benign	Het
Cramp1	A	T	17: 25,201,379 (GRCm39)	M701K	possibly damaging	Het
Dnah1	A	G	14: 31,020,664 (GRCm39)	I1235T	probably damaging	Het
Efcab3	T	C	11: 104,920,837 (GRCm39)	L4676P	probably benign	Het
Ergic1	A	G	17: 26,860,644 (GRCm39)	E244G	probably damaging	Het
Fignl2	C	A	15: 100,951,382 (GRCm39)	R300L	unknown	Het
Fry	T	C	5: 150,419,814 (GRCm39)	M628T		Het
Fscn3	A	G	6: 28,431,544 (GRCm39)	T292A	possibly damaging	Het
Fsip2	A	T	2: 82,819,860 (GRCm39)	I5198L	probably benign	Het
Gm4181	T	A	14: 51,869,990 (GRCm39)	R104W	probably damaging	Het
Gnl1	G	A	17: 36,294,305 (GRCm39)	R308H	probably benign	Het
Gtf2h4	G	T	17: 35,980,857 (GRCm39)	L271I	probably damaging	Het
Helq	GTTT	GTT	5: 100,931,051 (GRCm39)		probably null	Het
Hhatl	A	T	9: 121,618,652 (GRCm39)	W117R	probably benign	Het
Hlx	A	G	1: 184,462,993 (GRCm39)	F220L	probably benign	Het
Il31ra	T	C	13: 112,688,497 (GRCm39)	I27V	probably damaging	Het
Itga8	T	G	2: 12,266,940 (GRCm39)	D165A	probably damaging	Het
Krt33a	A	C	11: 99,902,801 (GRCm39)	V341G	probably benign	Het
Lrrc3c	A	G	11: 98,490,266 (GRCm39)	M208V	possibly damaging	Het
Mapk8ip3	A	T	17: 25,120,135 (GRCm39)	S947T	probably benign	Het
Muc5b	A	G	7: 141,412,444 (GRCm39)	I1797V	unknown	Het
Myh2	A	T	11: 67,088,191 (GRCm39)	T1936S	probably benign	Het
Nr1h2	T	C	7: 44,199,746 (GRCm39)	Y391C	possibly damaging	Het
Or1l8	T	A	2: 36,817,986 (GRCm39)	I47F	probably damaging	Het
Or4c114	A	T	2: 88,904,811 (GRCm39)	I208K	probably damaging	Het
Or4e2	A	G	14: 52,688,670 (GRCm39)	I267V	probably benign	Het
Or5d40	A	G	2: 88,015,952 (GRCm39)	T244A	possibly damaging	Het
Phf3	A	G	1: 30,852,211 (GRCm39)	M1064T	probably benign	Het
Pkd1	A	G	17: 24,794,025 (GRCm39)	E1904G	probably benign	Het
Polrmt	A	G	10: 79,576,483 (GRCm39)	V491A	probably benign	Het
Ppm1j	C	A	3: 104,691,429 (GRCm39)	R306S	probably damaging	Het
Prpf8	C	A	11: 75,382,610 (GRCm39)	Q439K	probably benign	Het
Prss50	A	T	9: 110,692,800 (GRCm39)	I307F	possibly damaging	Het
Rgs20	A	G	1: 4,982,535 (GRCm39)		probably null	Het
Rnf144b	A	G	13: 47,393,258 (GRCm39)	E199G	probably damaging	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc22a26	A	T	19: 7,768,259 (GRCm39)	V233E	probably damaging	Het
Slc27a2	T	G	2: 126,395,124 (GRCm39)	L17R	probably benign	Het
Slc6a17	A	G	3: 107,398,794 (GRCm39)	V269A	probably benign	Het
Srp54c	T	C	12: 55,304,237 (GRCm39)	V395A	probably benign	Het
Sspo	A	T	6: 48,438,581 (GRCm39)	S1550C	possibly damaging	Het
Tet1	A	G	10: 62,715,818 (GRCm39)		probably benign	Het
Themis	A	T	10: 28,609,497 (GRCm39)	H88L	probably benign	Het
Tmem63b	G	A	17: 45,971,773 (GRCm39)	T814M	possibly damaging	Het
Tnc	G	A	4: 63,889,469 (GRCm39)	T1679I	probably damaging	Het
Tnfrsf11a	A	G	1: 105,772,456 (GRCm39)	D581G	probably damaging	Het
Trim30d	A	C	7: 104,132,555 (GRCm39)	V244G	probably benign	Het
Trpv1	T	C	11: 73,151,163 (GRCm39)	S784P	possibly damaging	Het
Tulp1	G	A	17: 28,575,398 (GRCm39)	T103M	probably damaging	Het
Ubap2l	A	C	3: 89,922,713 (GRCm39)	V775G	unknown	Het
Vmn2r69	A	C	7: 85,060,972 (GRCm39)	I204R	possibly damaging	Het
Vmn2r72	T	A	7: 85,399,771 (GRCm39)	D426V	probably benign	Het
Vmn2r93	G	A	17: 18,533,497 (GRCm39)	W467*	probably null	Het
Wbp2nl	T	C	15: 82,198,542 (GRCm39)	*360Q	probably null	Het
Xylt1	G	A	7: 117,191,274 (GRCm39)		probably null	Het
Zc3h6	T	G	2: 128,835,331 (GRCm39)	N123K	unknown	Het
Zfp853	T	C	5: 143,275,110 (GRCm39)	Q185R	unknown	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
R4979:Prkd2	UTSW	7	16,582,652 (GRCm39)	missense	probably damaging	1.00
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
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'- CTTTGCTCAGTGGGAAGCTG -3'
(R):5'- GCCTCCCAAGTTCTCTTAGAG -3'

Sequencing Primer
(F):5'- CTCAGTGGGAAGCTGGTGTG -3'
(R):5'- AGAGCTTCTGTCACTTACTTCTAAG -3'

Posted On

2019-06-26