Incidental Mutation 'R9466:Prkd2'
ID |
715161 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkd2
|
Ensembl Gene |
ENSMUSG00000041187 |
Gene Name |
protein kinase D2 |
Synonyms |
PKD2 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9466 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
16576827-16604386 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 16589696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 466
(H466L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000083273
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086104]
[ENSMUST00000168093]
|
AlphaFold |
Q8BZ03 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000086104
AA Change: H466L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000083273 Gene: ENSMUSG00000041187 AA Change: H466L
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: H466L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131192 Gene: ENSMUSG00000041187 AA Change: H466L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acox2 |
A |
G |
14: 8,248,092 (GRCm38) |
S397P |
probably benign |
Het |
Arhgef28 |
T |
A |
13: 98,124,825 (GRCm39) |
S486C |
|
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Atp8b2 |
A |
T |
3: 89,851,484 (GRCm39) |
Y928N |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,048,584 (GRCm39) |
T253A |
possibly damaging |
Het |
Brsk2 |
A |
T |
7: 141,536,800 (GRCm39) |
Y91F |
probably benign |
Het |
C7 |
C |
T |
15: 5,044,884 (GRCm39) |
V385I |
probably benign |
Het |
Cdk5rap1 |
C |
A |
2: 154,192,756 (GRCm39) |
V414F |
possibly damaging |
Het |
Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
Cyp2d26 |
A |
T |
15: 82,674,424 (GRCm39) |
M486K |
probably benign |
Het |
Dchs2 |
G |
T |
3: 83,176,564 (GRCm39) |
A841S |
probably damaging |
Het |
Dnajb1 |
T |
G |
8: 84,337,384 (GRCm39) |
V320G |
probably damaging |
Het |
Dusp10 |
T |
C |
1: 183,769,234 (GRCm39) |
S67P |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,662,414 (GRCm39) |
T548A |
probably benign |
Het |
Grhl3 |
A |
T |
4: 135,283,412 (GRCm39) |
S276T |
probably benign |
Het |
Hspd1 |
A |
T |
1: 55,119,483 (GRCm39) |
N331K |
probably benign |
Het |
Ikbke |
T |
A |
1: 131,193,445 (GRCm39) |
Q519L |
probably damaging |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Kdm4b |
A |
C |
17: 56,696,548 (GRCm39) |
E421D |
probably benign |
Het |
Krt6b |
A |
T |
15: 101,586,027 (GRCm39) |
Y349N |
probably damaging |
Het |
Larp1 |
T |
C |
11: 57,943,461 (GRCm39) |
S845P |
possibly damaging |
Het |
Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
Nup98 |
G |
A |
7: 101,818,611 (GRCm39) |
S473L |
probably benign |
Het |
Or10w1 |
T |
A |
19: 13,631,796 (GRCm39) |
M1K |
probably null |
Het |
Or14c45 |
C |
G |
7: 86,176,080 (GRCm39) |
F38L |
probably benign |
Het |
Or8g28 |
T |
A |
9: 39,169,491 (GRCm39) |
H159L |
possibly damaging |
Het |
Ovgp1 |
G |
A |
3: 105,887,484 (GRCm39) |
R265H |
|
Het |
Pgap3 |
C |
T |
11: 98,289,796 (GRCm39) |
R65Q |
probably benign |
Het |
Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
Plcg1 |
C |
A |
2: 160,596,520 (GRCm39) |
H680N |
probably benign |
Het |
Pnliprp1 |
A |
T |
19: 58,723,081 (GRCm39) |
D194V |
probably damaging |
Het |
Pramel1 |
A |
G |
4: 143,123,799 (GRCm39) |
D158G |
probably benign |
Het |
Prkd3 |
T |
C |
17: 79,264,049 (GRCm39) |
I683V |
probably damaging |
Het |
Prrc2c |
A |
T |
1: 162,503,258 (GRCm39) |
H2734Q |
possibly damaging |
Het |
Scnn1b |
A |
T |
7: 121,502,013 (GRCm39) |
I224F |
probably damaging |
Het |
Sis |
A |
T |
3: 72,872,910 (GRCm39) |
|
probably null |
Het |
Syt15 |
C |
T |
14: 33,942,991 (GRCm39) |
L17F |
probably damaging |
Het |
Tenm4 |
T |
C |
7: 96,199,252 (GRCm39) |
F15S |
possibly damaging |
Het |
Thsd7b |
A |
G |
1: 130,122,866 (GRCm39) |
K1495R |
probably benign |
Het |
Ttc28 |
T |
C |
5: 111,330,895 (GRCm39) |
S372P |
probably damaging |
Het |
Vmn1r68 |
A |
T |
7: 10,261,317 (GRCm39) |
Y260* |
probably null |
Het |
Vmn1r68 |
A |
G |
7: 10,261,417 (GRCm39) |
V227A |
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 |
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 |
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 |
PCR Primer
(F):5'- TCATGGTTAGCATGGGTACG -3'
(R):5'- CAGGTAGGGACTTACTGTGC -3'
Sequencing Primer
(F):5'- ACCTGTCCACGTAGACCAGG -3'
(R):5'- TACTGTGCGGTGTGTGCCC -3'
|
Posted On |
2022-06-15 |