Incidental Mutation 'IGL02354:Prkd2'
ID |
289595 |
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 # |
IGL02354
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
16576827-16604386 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 16581583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 146
(Y146C)
|
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: Y146C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083273 Gene: ENSMUSG00000041187 AA Change: Y146C
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: Y146C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131192 Gene: ENSMUSG00000041187 AA Change: Y146C
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqp1 |
A |
C |
6: 55,322,498 (GRCm39) |
L164F |
possibly damaging |
Het |
Bfsp1 |
T |
C |
2: 143,673,907 (GRCm39) |
E261G |
probably damaging |
Het |
Brinp2 |
A |
G |
1: 158,074,748 (GRCm39) |
C458R |
probably damaging |
Het |
Cacng3 |
T |
G |
7: 122,271,169 (GRCm39) |
M58R |
possibly damaging |
Het |
Cfap43 |
A |
T |
19: 47,885,852 (GRCm39) |
C254* |
probably null |
Het |
Cnga1 |
T |
C |
5: 72,774,061 (GRCm39) |
|
probably null |
Het |
Dis3 |
A |
T |
14: 99,317,148 (GRCm39) |
Y765* |
probably null |
Het |
Dpep1 |
T |
A |
8: 123,926,957 (GRCm39) |
S260R |
probably benign |
Het |
Elmod1 |
A |
G |
9: 53,838,842 (GRCm39) |
L106P |
probably damaging |
Het |
Fut10 |
A |
G |
8: 31,691,398 (GRCm39) |
Y81C |
probably damaging |
Het |
Fzd10 |
T |
A |
5: 128,678,932 (GRCm39) |
D217E |
possibly damaging |
Het |
Gap43 |
T |
C |
16: 42,160,871 (GRCm39) |
|
probably benign |
Het |
Gigyf1 |
T |
C |
5: 137,517,989 (GRCm39) |
|
probably benign |
Het |
Gpc5 |
C |
T |
14: 115,370,699 (GRCm39) |
R175* |
probably null |
Het |
Gpi-ps |
T |
C |
8: 5,690,896 (GRCm39) |
|
noncoding transcript |
Het |
Gpr61 |
A |
G |
3: 108,057,534 (GRCm39) |
S376P |
probably damaging |
Het |
Kcna1 |
C |
A |
6: 126,619,869 (GRCm39) |
Q150H |
probably damaging |
Het |
Lama5 |
A |
T |
2: 179,835,677 (GRCm39) |
C1225* |
probably null |
Het |
Lrrc25 |
A |
T |
8: 71,070,477 (GRCm39) |
D86V |
probably benign |
Het |
Madd |
A |
T |
2: 90,992,543 (GRCm39) |
V1043E |
probably benign |
Het |
Mov10 |
A |
T |
3: 104,711,437 (GRCm39) |
|
probably benign |
Het |
Mzb1 |
T |
A |
18: 35,782,250 (GRCm39) |
H46L |
possibly damaging |
Het |
Nos3 |
A |
T |
5: 24,572,621 (GRCm39) |
I187F |
probably damaging |
Het |
Or4c1 |
T |
A |
2: 89,133,526 (GRCm39) |
M137L |
probably benign |
Het |
Or5p53 |
T |
A |
7: 107,533,484 (GRCm39) |
Y252* |
probably null |
Het |
Or6c69c |
A |
G |
10: 129,911,143 (GRCm39) |
Y288C |
probably damaging |
Het |
Pgap1 |
T |
C |
1: 54,551,975 (GRCm39) |
T486A |
probably benign |
Het |
Prdm9 |
C |
T |
17: 15,783,109 (GRCm39) |
V58M |
probably damaging |
Het |
Psmd9 |
G |
T |
5: 123,386,379 (GRCm39) |
R175I |
probably damaging |
Het |
Pxdn |
A |
G |
12: 30,049,188 (GRCm39) |
D618G |
probably damaging |
Het |
Rgs6 |
A |
T |
12: 82,665,393 (GRCm39) |
|
probably benign |
Het |
Rrm2 |
G |
T |
12: 24,761,438 (GRCm39) |
|
probably benign |
Het |
Sall1 |
G |
T |
8: 89,759,677 (GRCm39) |
S142R |
probably benign |
Het |
Shank3 |
T |
C |
15: 89,388,536 (GRCm39) |
V376A |
probably damaging |
Het |
Slc5a10 |
A |
G |
11: 61,610,666 (GRCm39) |
|
probably null |
Het |
Slfn3 |
A |
T |
11: 83,104,068 (GRCm39) |
Q313L |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,257,319 (GRCm39) |
|
probably benign |
Het |
Sptbn1 |
A |
T |
11: 30,060,783 (GRCm39) |
F2062L |
probably damaging |
Het |
Tbc1d10a |
T |
C |
11: 4,165,047 (GRCm39) |
V500A |
probably benign |
Het |
Tcea1 |
T |
C |
1: 4,966,570 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
T |
C |
6: 12,348,192 (GRCm39) |
|
probably benign |
Het |
Tm9sf4 |
C |
T |
2: 153,029,570 (GRCm39) |
T173M |
probably benign |
Het |
Tmtc2 |
T |
C |
10: 105,107,387 (GRCm39) |
T709A |
probably benign |
Het |
Zfp385b |
T |
C |
2: 77,280,647 (GRCm39) |
E97G |
probably damaging |
Het |
Zim1 |
A |
T |
7: 6,685,873 (GRCm39) |
|
probably null |
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 |
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 |