Incidental Mutation 'R6033:Prkd2'
ID |
480504 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkd2
|
Ensembl Gene |
ENSMUSG00000041187 |
Gene Name |
protein kinase D2 |
Synonyms |
PKD2 |
MMRRC Submission |
044205-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6033 (G1)
|
Quality Score |
212.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
16576827-16604386 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 16599639 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 701
(R701C)
|
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: R701C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000083273 Gene: ENSMUSG00000041187 AA Change: R701C
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: R701C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131192 Gene: ENSMUSG00000041187 AA Change: R701C
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
|
Meta Mutation Damage Score |
0.9415 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 96.9%
- 20x: 89.0%
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrl1 |
T |
A |
8: 84,645,551 (GRCm39) |
V58E |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Alas1 |
A |
G |
9: 106,118,403 (GRCm39) |
S240P |
probably damaging |
Het |
Alox12e |
C |
T |
11: 70,206,839 (GRCm39) |
G616D |
probably benign |
Het |
Ash1l |
T |
C |
3: 88,892,326 (GRCm39) |
Y1402H |
probably damaging |
Het |
Ccdc150 |
G |
T |
1: 54,324,787 (GRCm39) |
|
probably null |
Het |
Chct1 |
A |
G |
11: 85,069,198 (GRCm39) |
E72G |
probably damaging |
Het |
Cmtm8 |
T |
C |
9: 114,625,141 (GRCm39) |
T97A |
probably damaging |
Het |
Cnmd |
T |
C |
14: 79,898,945 (GRCm39) |
S36G |
probably benign |
Het |
Dnah3 |
A |
C |
7: 119,670,870 (GRCm39) |
N609K |
probably benign |
Het |
Dph1 |
C |
T |
11: 75,082,023 (GRCm39) |
|
probably benign |
Het |
Drosha |
G |
A |
15: 12,926,085 (GRCm39) |
A1225T |
probably benign |
Het |
Eid3 |
T |
A |
10: 82,703,487 (GRCm39) |
I316K |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,530,622 (GRCm39) |
L449S |
probably benign |
Het |
Fhod1 |
T |
C |
8: 106,063,066 (GRCm39) |
|
probably benign |
Het |
Glra1 |
A |
G |
11: 55,418,245 (GRCm39) |
Y250H |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,310,583 (GRCm39) |
E941G |
probably benign |
Het |
Homer2 |
A |
C |
7: 81,268,427 (GRCm39) |
S78A |
possibly damaging |
Het |
Ica1 |
T |
A |
6: 8,630,799 (GRCm39) |
|
probably null |
Het |
Ifna12 |
T |
C |
4: 88,521,154 (GRCm39) |
E131G |
possibly damaging |
Het |
Igbp1b |
T |
C |
6: 138,635,207 (GRCm39) |
Y79C |
probably damaging |
Het |
Incenp |
C |
T |
19: 9,850,061 (GRCm39) |
V871I |
probably damaging |
Het |
Jaml |
G |
A |
9: 45,000,008 (GRCm39) |
G60D |
probably damaging |
Het |
Kcp |
C |
T |
6: 29,493,193 (GRCm39) |
C110Y |
probably damaging |
Het |
Manba |
T |
C |
3: 135,255,022 (GRCm39) |
V460A |
probably benign |
Het |
Myrfl |
A |
T |
10: 116,685,006 (GRCm39) |
C125S |
probably benign |
Het |
Ncan |
T |
C |
8: 70,565,240 (GRCm39) |
D229G |
probably damaging |
Het |
Ncoa4-ps |
A |
G |
12: 119,225,475 (GRCm39) |
|
noncoding transcript |
Het |
Nlrp10 |
A |
T |
7: 108,523,784 (GRCm39) |
D565E |
probably benign |
Het |
Npas2 |
T |
C |
1: 39,377,261 (GRCm39) |
V541A |
probably damaging |
Het |
Nsg2 |
G |
A |
11: 32,005,058 (GRCm39) |
V87M |
possibly damaging |
Het |
Or5al6 |
A |
T |
2: 85,976,613 (GRCm39) |
V155E |
probably damaging |
Het |
Prr5 |
A |
G |
15: 84,626,126 (GRCm39) |
E67G |
probably damaging |
Het |
Prss36 |
T |
C |
7: 127,533,739 (GRCm39) |
R22G |
probably benign |
Het |
Psmd1 |
T |
C |
1: 86,064,817 (GRCm39) |
Y950H |
probably damaging |
Het |
Slc45a4 |
G |
A |
15: 73,453,825 (GRCm39) |
A716V |
probably damaging |
Het |
Slc46a1 |
T |
C |
11: 78,356,833 (GRCm39) |
|
probably null |
Het |
Slc6a5 |
T |
C |
7: 49,609,099 (GRCm39) |
I768T |
probably benign |
Het |
Slco6c1 |
C |
T |
1: 97,009,041 (GRCm39) |
|
probably null |
Het |
Taar2 |
A |
T |
10: 23,816,874 (GRCm39) |
H138L |
probably benign |
Het |
Taf2 |
A |
C |
15: 54,922,297 (GRCm39) |
L330R |
probably damaging |
Het |
Tgm5 |
T |
C |
2: 120,901,210 (GRCm39) |
|
probably null |
Het |
Tmed4 |
A |
T |
11: 6,224,491 (GRCm39) |
Y56* |
probably null |
Het |
Tmem156 |
A |
T |
5: 65,232,964 (GRCm39) |
F135L |
probably benign |
Het |
Ttll6 |
T |
C |
11: 96,025,713 (GRCm39) |
S65P |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,557,171 (GRCm39) |
G28199R |
probably damaging |
Het |
Ubn2 |
T |
A |
6: 38,447,159 (GRCm39) |
|
probably null |
Het |
Unc80 |
A |
T |
1: 66,512,419 (GRCm39) |
T110S |
possibly damaging |
Het |
Vmn2r72 |
A |
T |
7: 85,387,137 (GRCm39) |
V809E |
probably damaging |
Het |
Zbtb2 |
A |
G |
10: 4,318,599 (GRCm39) |
F476L |
probably damaging |
Het |
Zbtb24 |
T |
C |
10: 41,340,397 (GRCm39) |
F498L |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,236,419 (GRCm39) |
L494Q |
probably damaging |
Het |
Zfp281 |
T |
C |
1: 136,554,464 (GRCm39) |
S481P |
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 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2017-06-26 |