Incidental Mutation 'IGL00233:Prkd2'
| ID |
306848 |
| 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 # |
IGL00233
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16576827-16604386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16599787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 750
(F750S)
|
| 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: F750S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: F750S
| 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: F750S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: F750S
| 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: ENSMUST00000205798
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206510
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aimp1 |
A |
T |
3: 132,382,904 (GRCm39) |
|
probably benign |
Het |
| Arpc5 |
A |
G |
1: 152,644,658 (GRCm39) |
I64V |
probably benign |
Het |
| C030048H21Rik |
G |
A |
2: 26,146,632 (GRCm39) |
R1227W |
probably damaging |
Het |
| Cacnb1 |
T |
C |
11: 97,913,190 (GRCm39) |
E21G |
possibly damaging |
Het |
| Catsper3 |
A |
G |
13: 55,946,635 (GRCm39) |
K111E |
possibly damaging |
Het |
| Cda |
T |
C |
4: 138,095,157 (GRCm39) |
Y33C |
probably damaging |
Het |
| Celsr3 |
A |
T |
9: 108,726,124 (GRCm39) |
R3118W |
probably damaging |
Het |
| Clvs1 |
G |
A |
4: 9,281,939 (GRCm39) |
G128R |
probably damaging |
Het |
| Col9a1 |
A |
G |
1: 24,224,306 (GRCm39) |
S163G |
unknown |
Het |
| Cyp4v3 |
T |
C |
8: 45,760,040 (GRCm39) |
D64G |
probably benign |
Het |
| Dst |
C |
A |
1: 34,290,920 (GRCm39) |
L837M |
probably damaging |
Het |
| Eif2ak4 |
T |
A |
2: 118,294,536 (GRCm39) |
I1349N |
probably damaging |
Het |
| Elob |
C |
A |
17: 24,043,954 (GRCm39) |
|
probably null |
Het |
| Glipr1 |
T |
A |
10: 111,821,555 (GRCm39) |
I216L |
probably benign |
Het |
| Gm3238 |
C |
T |
10: 77,607,126 (GRCm39) |
|
probably benign |
Het |
| Gm43638 |
C |
T |
5: 87,608,258 (GRCm39) |
R527H |
probably damaging |
Het |
| H2-M11 |
A |
G |
17: 36,858,445 (GRCm39) |
K80E |
probably benign |
Het |
| Htt |
A |
G |
5: 35,053,370 (GRCm39) |
|
probably null |
Het |
| Kif26a |
A |
G |
12: 112,124,066 (GRCm39) |
S224G |
probably damaging |
Het |
| Mgat5b |
T |
A |
11: 116,822,488 (GRCm39) |
M74K |
probably damaging |
Het |
| Ms4a7 |
A |
T |
19: 11,299,724 (GRCm39) |
V89D |
probably damaging |
Het |
| Nlrx1 |
G |
A |
9: 44,175,365 (GRCm39) |
T137I |
probably benign |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,035 (GRCm39) |
T394A |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,340,982 (GRCm39) |
I151T |
probably damaging |
Het |
| Plcl1 |
T |
C |
1: 55,445,695 (GRCm39) |
V50A |
probably benign |
Het |
| Psmd13 |
T |
C |
7: 140,477,534 (GRCm39) |
V311A |
probably damaging |
Het |
| Rec8 |
C |
T |
14: 55,860,972 (GRCm39) |
Q334* |
probably null |
Het |
| Rfx7 |
G |
A |
9: 72,514,972 (GRCm39) |
V157I |
probably damaging |
Het |
| Sele |
G |
A |
1: 163,879,403 (GRCm39) |
C312Y |
probably damaging |
Het |
| Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
| Tma16 |
G |
T |
8: 66,933,097 (GRCm39) |
Q95K |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,362,890 (GRCm39) |
D288G |
probably damaging |
Het |
| Vmn1r231 |
A |
T |
17: 21,110,828 (GRCm39) |
I29N |
possibly damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,012,389 (GRCm39) |
L750* |
probably null |
Het |
|
| Other mutations in Prkd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation