Incidental Mutation 'IGL02834:Prkd2'
| ID |
361573 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prkd2
|
| Ensembl Gene |
ENSMUSG00000041187 |
| Gene Name |
protein kinase D2 |
| Synonyms |
PKD2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02834
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16576827-16604386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16579859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 119
(D119G)
|
| 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: D119G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: D119G
| 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: D119G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: D119G
| 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 |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
A |
T |
8: 78,091,729 (GRCm39) |
L430Q |
probably damaging |
Het |
| Cc2d2a |
C |
T |
5: 43,871,863 (GRCm39) |
R900* |
probably null |
Het |
| Cd14 |
A |
G |
18: 36,858,556 (GRCm39) |
Y300H |
probably benign |
Het |
| Dgcr8 |
T |
A |
16: 18,090,623 (GRCm39) |
T584S |
probably benign |
Het |
| Epb41l5 |
C |
T |
1: 119,551,685 (GRCm39) |
G100D |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,010,893 (GRCm39) |
G1998R |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,562,652 (GRCm39) |
L279H |
probably damaging |
Het |
| Gabrr1 |
A |
G |
4: 33,151,426 (GRCm39) |
E114G |
probably damaging |
Het |
| Gpr141b |
A |
T |
13: 19,914,045 (GRCm39) |
|
noncoding transcript |
Het |
| Hrh2 |
A |
G |
13: 54,369,019 (GRCm39) |
R332G |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,081,625 (GRCm39) |
I180V |
probably benign |
Het |
| Lyg2 |
T |
A |
1: 37,949,048 (GRCm39) |
R105W |
probably damaging |
Het |
| Myc |
A |
G |
15: 61,859,515 (GRCm39) |
I64V |
probably damaging |
Het |
| Nrcam |
G |
A |
12: 44,587,858 (GRCm39) |
|
probably null |
Het |
| Ogdhl |
A |
G |
14: 32,047,903 (GRCm39) |
Y51C |
probably damaging |
Het |
| Or13p5 |
C |
T |
4: 118,591,803 (GRCm39) |
L26F |
probably benign |
Het |
| Or51m1 |
T |
A |
7: 103,578,601 (GRCm39) |
C190* |
probably null |
Het |
| Pdlim3 |
A |
G |
8: 46,370,569 (GRCm39) |
R290G |
probably benign |
Het |
| Ppm1l |
G |
A |
3: 69,456,676 (GRCm39) |
A198T |
probably damaging |
Het |
| Rapgef3 |
A |
T |
15: 97,646,146 (GRCm39) |
I820N |
probably damaging |
Het |
| Scnn1b |
A |
G |
7: 121,511,285 (GRCm39) |
Y324C |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,234,968 (GRCm39) |
R289C |
probably benign |
Het |
| Vmn2r51 |
T |
A |
7: 9,832,063 (GRCm39) |
R508* |
probably null |
Het |
| Vps13c |
A |
T |
9: 67,845,137 (GRCm39) |
I2074L |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,633,415 (GRCm39) |
|
probably benign |
Het |
| Ydjc |
C |
T |
16: 16,965,153 (GRCm39) |
P74L |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation