Incidental Mutation 'IGL03168:Prkd2'
| ID |
411720 |
| 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 # |
IGL03168
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16576827-16604386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16584188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 347
(D347G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131192
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086104]
[ENSMUST00000168093]
|
| AlphaFold |
Q8BZ03 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086104
AA Change: D347G
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: D347G
| 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 |
possibly damaging
Transcript: ENSMUST00000168093
AA Change: D347G
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: D347G
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
C |
13: 4,486,280 (GRCm39) |
V29A |
probably benign |
Het |
| Ankk1 |
C |
A |
9: 49,327,068 (GRCm39) |
A704S |
possibly damaging |
Het |
| Aph1c |
G |
A |
9: 66,740,619 (GRCm39) |
|
probably benign |
Het |
| Arglu1 |
T |
A |
8: 8,733,960 (GRCm39) |
I119L |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,818,877 (GRCm39) |
S1318R |
possibly damaging |
Het |
| Calhm4 |
C |
T |
10: 33,917,552 (GRCm39) |
V300I |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,239,741 (GRCm39) |
|
probably benign |
Het |
| Colq |
T |
C |
14: 31,246,377 (GRCm39) |
Y445C |
probably damaging |
Het |
| Cyp2a4 |
A |
T |
7: 26,012,975 (GRCm39) |
|
probably benign |
Het |
| Cyp2j7 |
C |
T |
4: 96,118,274 (GRCm39) |
M106I |
probably benign |
Het |
| Erfe |
T |
G |
1: 91,299,164 (GRCm39) |
N302K |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,815,046 (GRCm39) |
|
probably benign |
Het |
| Gata3 |
A |
G |
2: 9,873,625 (GRCm39) |
Y290H |
probably damaging |
Het |
| Grik4 |
T |
C |
9: 42,582,539 (GRCm39) |
T136A |
probably damaging |
Het |
| Hc |
G |
T |
2: 34,914,210 (GRCm39) |
N832K |
probably benign |
Het |
| Jhy |
A |
T |
9: 40,828,848 (GRCm39) |
S353T |
possibly damaging |
Het |
| Krt40 |
T |
A |
11: 99,433,854 (GRCm39) |
Q44L |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,886,846 (GRCm39) |
F794S |
probably damaging |
Het |
| Or2l13 |
A |
T |
16: 19,305,969 (GRCm39) |
H127L |
probably benign |
Het |
| Or2n1e |
A |
C |
17: 38,585,682 (GRCm39) |
S7R |
probably damaging |
Het |
| Or4p7 |
A |
G |
2: 88,221,938 (GRCm39) |
M116V |
probably damaging |
Het |
| Or5ac16 |
A |
G |
16: 59,022,610 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,607 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or8b1c |
A |
G |
9: 38,384,315 (GRCm39) |
T91A |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,825 (GRCm39) |
E205G |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,256,177 (GRCm39) |
I17K |
possibly damaging |
Het |
| Prkdc |
A |
G |
16: 15,652,030 (GRCm39) |
I3806V |
probably benign |
Het |
| Qpct |
C |
A |
17: 79,359,753 (GRCm39) |
A20E |
unknown |
Het |
| Rap1a |
A |
G |
3: 105,657,587 (GRCm39) |
S11P |
probably damaging |
Het |
| Rnf145 |
C |
A |
11: 44,445,985 (GRCm39) |
T273K |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,364,831 (GRCm39) |
I298T |
probably damaging |
Het |
| Syt6 |
G |
A |
3: 103,494,943 (GRCm39) |
V303M |
probably damaging |
Het |
| Tpr |
A |
G |
1: 150,284,508 (GRCm39) |
I324M |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,315,080 (GRCm39) |
F330L |
probably damaging |
Het |
| Unc45a |
A |
T |
7: 79,982,881 (GRCm39) |
L348Q |
probably damaging |
Het |
| Vmn1r17 |
T |
A |
6: 57,337,583 (GRCm39) |
I212F |
probably benign |
Het |
| Vmn2r68 |
A |
C |
7: 84,870,972 (GRCm39) |
N770K |
probably damaging |
Het |
| Zfhx3 |
T |
C |
8: 109,673,132 (GRCm39) |
V1394A |
probably 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 |
|
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 |
2016-08-02 |
Incidental Mutation