Incidental Mutation 'R7900:Prkd2'
ID |
609940 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkd2
|
Ensembl Gene |
ENSMUSG00000041187 |
Gene Name |
protein kinase D2 |
Synonyms |
PKD2 |
MMRRC Submission |
045952-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7900 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
16576827-16604386 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 16587269 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 405
(V405A)
|
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: V405A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000083273 Gene: ENSMUSG00000041187 AA Change: V405A
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: V405A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000131192 Gene: ENSMUSG00000041187 AA Change: V405A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (50/50) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530084C06Rik |
G |
T |
13: 31,742,978 (GRCm39) |
R92S |
unknown |
Het |
Adamtsl5 |
A |
G |
10: 80,177,735 (GRCm39) |
F309S |
probably damaging |
Het |
Ankle1 |
C |
T |
8: 71,860,061 (GRCm39) |
T213I |
probably damaging |
Het |
C4b |
A |
G |
17: 34,958,751 (GRCm39) |
S528P |
probably benign |
Het |
Camk2a |
A |
G |
18: 61,090,438 (GRCm39) |
Y222C |
probably damaging |
Het |
Cnst |
A |
G |
1: 179,450,453 (GRCm39) |
D639G |
probably damaging |
Het |
Ctbp2 |
A |
C |
7: 132,616,328 (GRCm39) |
S202R |
probably benign |
Het |
Cwf19l2 |
G |
T |
9: 3,460,107 (GRCm39) |
L798F |
probably damaging |
Het |
Cyp11a1 |
T |
A |
9: 57,923,667 (GRCm39) |
V124E |
possibly damaging |
Het |
Ddx3y |
C |
T |
Y: 1,266,594 (GRCm39) |
|
probably null |
Het |
Dlst |
G |
T |
12: 85,177,292 (GRCm39) |
R346L |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,409,254 (GRCm39) |
S375P |
probably damaging |
Het |
Dnm3 |
T |
A |
1: 162,182,940 (GRCm39) |
Y125F |
probably benign |
Het |
Dock9 |
C |
T |
14: 121,783,491 (GRCm39) |
A2011T |
possibly damaging |
Het |
Efr3a |
T |
A |
15: 65,719,984 (GRCm39) |
|
probably null |
Het |
Egln1 |
A |
T |
8: 125,640,879 (GRCm39) |
I319N |
possibly damaging |
Het |
Gata3 |
T |
A |
2: 9,863,461 (GRCm39) |
N351I |
probably damaging |
Het |
Gjd3 |
T |
C |
11: 102,690,920 (GRCm39) |
N361S |
probably benign |
Het |
Gpcpd1 |
T |
C |
2: 132,376,659 (GRCm39) |
T546A |
probably damaging |
Het |
Gpihbp1 |
T |
C |
15: 75,469,791 (GRCm39) |
F169L |
probably benign |
Het |
Gpnmb |
A |
T |
6: 49,027,400 (GRCm39) |
I375L |
possibly damaging |
Het |
Itpka |
A |
T |
2: 119,580,994 (GRCm39) |
T381S |
probably benign |
Het |
Lhx4 |
T |
C |
1: 155,617,709 (GRCm39) |
|
probably benign |
Het |
Lrguk |
T |
C |
6: 34,106,129 (GRCm39) |
L718P |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Nr1d1 |
T |
A |
11: 98,660,537 (GRCm39) |
T477S |
probably benign |
Het |
Nxnl1 |
A |
T |
8: 72,019,170 (GRCm39) |
D18E |
probably damaging |
Het |
Onecut2 |
G |
T |
18: 64,474,658 (GRCm39) |
R403L |
probably damaging |
Het |
Or51v14 |
T |
C |
7: 103,260,900 (GRCm39) |
Y220C |
possibly damaging |
Het |
Or5an1 |
T |
A |
19: 12,260,705 (GRCm39) |
C98S |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,258,858 (GRCm39) |
T1177A |
possibly damaging |
Het |
Ranbp1 |
T |
C |
16: 18,063,161 (GRCm39) |
T72A |
probably damaging |
Het |
Retnla |
A |
C |
16: 48,663,977 (GRCm39) |
R90S |
probably benign |
Het |
Sec31b |
A |
T |
19: 44,514,669 (GRCm39) |
I385N |
probably damaging |
Het |
Slc6a19 |
C |
T |
13: 73,848,583 (GRCm39) |
R57H |
probably damaging |
Het |
Smurf1 |
T |
C |
5: 144,836,183 (GRCm39) |
D110G |
probably damaging |
Het |
Specc1 |
A |
G |
11: 62,110,187 (GRCm39) |
Y975C |
probably damaging |
Het |
Tas2r136 |
T |
A |
6: 132,754,599 (GRCm39) |
N176I |
possibly damaging |
Het |
Tecrl |
A |
C |
5: 83,427,188 (GRCm39) |
V320G |
probably benign |
Het |
Tmem245 |
A |
G |
4: 56,924,973 (GRCm39) |
|
probably null |
Het |
Tpd52l1 |
T |
A |
10: 31,214,178 (GRCm39) |
|
probably null |
Het |
Trbv2 |
A |
G |
6: 41,024,908 (GRCm39) |
Y108C |
probably damaging |
Het |
Trpm7 |
T |
C |
2: 126,639,418 (GRCm39) |
M1689V |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,266,597 (GRCm39) |
Y1855C |
probably damaging |
Het |
Usp9y |
A |
T |
Y: 1,384,354 (GRCm39) |
S721R |
possibly damaging |
Het |
Vwf |
G |
A |
6: 125,605,439 (GRCm39) |
|
probably null |
Het |
Washc4 |
T |
A |
10: 83,409,637 (GRCm39) |
|
probably null |
Het |
Yeats4 |
G |
A |
10: 117,056,464 (GRCm39) |
H71Y |
possibly damaging |
Het |
Zbtb38 |
A |
C |
9: 96,570,989 (GRCm39) |
L32V |
probably damaging |
Het |
Zfy1 |
T |
C |
Y: 725,519 (GRCm39) |
T749A |
possibly damaging |
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 |
R7323:Prkd2
|
UTSW |
7 |
16,581,547 (GRCm39) |
missense |
probably benign |
0.07 |
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'- CTCACGTGACTGCTCAAAGC -3'
(R):5'- TTAAATCTAGTCACACCCAACTGG -3'
Sequencing Primer
(F):5'- ACTGCTCAAAGCCGTCCCTG -3'
(R):5'- GGGCCACCCATAACTCTG -3'
|
Posted On |
2019-12-20 |