Incidental Mutation 'IGL02804:Prkd2'
| ID |
360351 |
| 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 # |
IGL02804
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16576827-16604386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 16589815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 506
(R506S)
|
| 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: R506S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: R506S
| 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: R506S
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: R506S
| 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: ENSMUST00000205456
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,397,009 (GRCm39) |
I241N |
possibly damaging |
Het |
| Aftph |
T |
C |
11: 20,676,107 (GRCm39) |
T501A |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,258,512 (GRCm39) |
S985P |
probably benign |
Het |
| Atxn7l1 |
T |
A |
12: 33,417,788 (GRCm39) |
S650T |
probably damaging |
Het |
| Camk2d |
G |
A |
3: 126,591,387 (GRCm39) |
E286K |
possibly damaging |
Het |
| Card10 |
A |
G |
15: 78,686,649 (GRCm39) |
V56A |
probably damaging |
Het |
| Fcgbpl1 |
G |
T |
7: 27,852,795 (GRCm39) |
V1361L |
probably benign |
Het |
| H2-Q10 |
G |
A |
17: 35,784,147 (GRCm39) |
G263R |
probably damaging |
Het |
| Herc4 |
A |
C |
10: 63,121,454 (GRCm39) |
K365Q |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,130,411 (GRCm39) |
H101R |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
| Lipg |
T |
A |
18: 75,082,159 (GRCm39) |
N255Y |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,650,777 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Myh7b |
T |
C |
2: 155,467,643 (GRCm39) |
L756P |
probably damaging |
Het |
| Nnt |
A |
G |
13: 119,518,210 (GRCm39) |
|
probably null |
Het |
| Or6c88 |
T |
C |
10: 129,407,306 (GRCm39) |
S261P |
possibly damaging |
Het |
| Pcsk9 |
A |
G |
4: 106,314,161 (GRCm39) |
Y145H |
probably damaging |
Het |
| Prkag1 |
G |
A |
15: 98,713,385 (GRCm39) |
S69L |
probably damaging |
Het |
| Ralgapb |
T |
A |
2: 158,268,204 (GRCm39) |
D102E |
possibly damaging |
Het |
| Rbm44 |
A |
G |
1: 91,077,898 (GRCm39) |
|
probably benign |
Het |
| Snap23 |
T |
C |
2: 120,416,637 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,874,182 (GRCm39) |
|
probably benign |
Het |
| Speer4a2 |
T |
A |
5: 26,291,429 (GRCm39) |
K126* |
probably null |
Het |
| Strbp |
T |
C |
2: 37,514,498 (GRCm39) |
|
probably benign |
Het |
| Tmem217 |
G |
A |
17: 29,745,455 (GRCm39) |
L92F |
probably damaging |
Het |
| Troap |
G |
A |
15: 98,975,552 (GRCm39) |
|
probably null |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,467 (GRCm39) |
M52V |
probably benign |
Het |
| Wwox |
G |
A |
8: 115,438,753 (GRCm39) |
G273E |
probably damaging |
Het |
| Zbp1 |
T |
A |
2: 173,050,939 (GRCm39) |
K310N |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,509,285 (GRCm39) |
H332L |
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 |
|
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 |
2015-12-18 |
Incidental Mutation