Incidental Mutation 'IGL02504:Prkd2'
| ID |
296228 |
| 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 # |
IGL02504
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16576827-16604386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 16591757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 596
(L596P)
|
| 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: L596P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: L596P
| 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: L596P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: L596P
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ago4 |
T |
A |
4: 126,411,232 (GRCm39) |
N142I |
probably benign |
Het |
| Asf1b |
A |
G |
8: 84,682,458 (GRCm39) |
M1V |
probably null |
Het |
| Astn1 |
T |
C |
1: 158,329,978 (GRCm39) |
C278R |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,428,384 (GRCm39) |
L692Q |
probably damaging |
Het |
| Cd207 |
T |
A |
6: 83,654,788 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
T |
A |
4: 152,447,779 (GRCm39) |
N548K |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,809,743 (GRCm39) |
G2659D |
unknown |
Het |
| Cpa6 |
A |
T |
1: 10,559,144 (GRCm39) |
Y75N |
probably benign |
Het |
| Cspg4 |
G |
T |
9: 56,793,056 (GRCm39) |
V264L |
probably benign |
Het |
| Cyp3a25 |
T |
A |
5: 145,930,141 (GRCm39) |
I155L |
probably benign |
Het |
| Dock6 |
A |
G |
9: 21,757,951 (GRCm39) |
I51T |
probably benign |
Het |
| Dse |
G |
T |
10: 34,028,796 (GRCm39) |
Q765K |
probably benign |
Het |
| Fam219b |
A |
T |
9: 57,445,351 (GRCm39) |
M87L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,871,094 (GRCm39) |
R3766C |
probably damaging |
Het |
| Fcnb |
A |
C |
2: 27,966,606 (GRCm39) |
M309R |
probably damaging |
Het |
| Fnbp4 |
C |
A |
2: 90,598,887 (GRCm39) |
N670K |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,809,199 (GRCm39) |
N1839K |
possibly damaging |
Het |
| G6pc2 |
A |
G |
2: 69,056,939 (GRCm39) |
H195R |
probably damaging |
Het |
| Gm14179 |
A |
T |
11: 99,634,003 (GRCm39) |
|
|
Het |
| Grm5 |
A |
G |
7: 87,779,980 (GRCm39) |
N1172S |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,205,799 (GRCm39) |
T64A |
possibly damaging |
Het |
| Hspb7 |
G |
T |
4: 141,149,131 (GRCm39) |
E12D |
probably benign |
Het |
| Kdm2a |
T |
C |
19: 4,406,799 (GRCm39) |
N155D |
possibly damaging |
Het |
| Klhl24 |
A |
T |
16: 19,934,693 (GRCm39) |
R389* |
probably null |
Het |
| Kmt2b |
A |
G |
7: 30,285,968 (GRCm39) |
|
probably benign |
Het |
| Krt4 |
T |
A |
15: 101,827,727 (GRCm39) |
I469F |
unknown |
Het |
| Mto1 |
A |
T |
9: 78,368,209 (GRCm39) |
D451V |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,400,177 (GRCm39) |
D477V |
unknown |
Het |
| Pcsk5 |
A |
G |
19: 17,455,236 (GRCm39) |
|
probably null |
Het |
| Ppil4 |
T |
A |
10: 7,696,748 (GRCm39) |
Y420* |
probably null |
Het |
| Ppp2r5d |
A |
T |
17: 47,011,019 (GRCm39) |
D27E |
probably benign |
Het |
| Prr30 |
T |
C |
14: 101,436,056 (GRCm39) |
I169V |
probably benign |
Het |
| Rtl9 |
A |
T |
X: 141,885,287 (GRCm39) |
T900S |
probably benign |
Het |
| Sash1 |
A |
G |
10: 8,605,676 (GRCm39) |
S905P |
probably benign |
Het |
| Scn2a |
G |
A |
2: 65,514,228 (GRCm39) |
G304D |
probably benign |
Het |
| Scp2d1 |
T |
C |
2: 144,665,877 (GRCm39) |
L72P |
probably damaging |
Het |
| Septin2 |
T |
A |
1: 93,428,203 (GRCm39) |
H166Q |
probably benign |
Het |
| Sgcb |
A |
G |
5: 73,801,718 (GRCm39) |
I49T |
probably damaging |
Het |
| Smyd4 |
T |
A |
11: 75,281,507 (GRCm39) |
W327R |
probably damaging |
Het |
| Sptbn1 |
C |
T |
11: 30,092,293 (GRCm39) |
E491K |
probably damaging |
Het |
| Tcaf1 |
A |
T |
6: 42,656,213 (GRCm39) |
H254Q |
probably benign |
Het |
| Tll1 |
A |
C |
8: 64,523,271 (GRCm39) |
D480E |
possibly damaging |
Het |
| Tlr3 |
G |
A |
8: 45,850,944 (GRCm39) |
T127M |
probably damaging |
Het |
| Trio |
A |
T |
15: 27,847,476 (GRCm39) |
C929* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,628,494 (GRCm39) |
W12809* |
probably null |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,400 (GRCm39) |
M217K |
possibly damaging |
Het |
| Unc13b |
T |
C |
4: 43,263,031 (GRCm39) |
V4261A |
probably damaging |
Het |
| Uqcrc2 |
T |
C |
7: 120,242,254 (GRCm39) |
I82T |
probably benign |
Het |
| Usp21 |
A |
G |
1: 171,112,596 (GRCm39) |
I266T |
probably benign |
Het |
| Veph1 |
A |
T |
3: 66,079,551 (GRCm39) |
H321Q |
probably damaging |
Het |
| Vmn1r29 |
A |
C |
6: 58,284,655 (GRCm39) |
Y125S |
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 |
|
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