Incidental Mutation 'R9139:Prkd3'
| ID |
694245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkd3
|
| Ensembl Gene |
ENSMUSG00000024070 |
| Gene Name |
protein kinase D3 |
| Synonyms |
4930557O20Rik, PKD3, 5730497N19Rik, Prkcn |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R9139 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
79256834-79328245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 79269969 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 564
(V564G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003191]
[ENSMUST00000118768]
[ENSMUST00000119284]
[ENSMUST00000168887]
|
| AlphaFold |
Q8K1Y2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003191
AA Change: V563G
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: V563G
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
155 |
204 |
1.95e-13 |
SMART |
|
C1
|
272 |
321 |
1.26e-16 |
SMART |
|
PH
|
417 |
534 |
1.18e-10 |
SMART |
|
S_TKc
|
575 |
831 |
4.5e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118768
AA Change: V469G
PolyPhen 2
Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: V469G
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
60 |
109 |
1.95e-13 |
SMART |
|
C1
|
177 |
226 |
1.26e-16 |
SMART |
|
PH
|
322 |
439 |
1.18e-10 |
SMART |
|
S_TKc
|
481 |
737 |
4.5e-90 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119284
AA Change: V564G
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: V564G
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
155 |
204 |
1.95e-13 |
SMART |
|
C1
|
272 |
321 |
1.26e-16 |
SMART |
|
PH
|
417 |
534 |
1.18e-10 |
SMART |
|
S_TKc
|
576 |
832 |
4.5e-90 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168887
AA Change: V563G
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: V563G
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
155 |
204 |
1.95e-13 |
SMART |
|
C1
|
272 |
321 |
1.26e-16 |
SMART |
|
PH
|
417 |
534 |
1.18e-10 |
SMART |
|
S_TKc
|
575 |
831 |
4.5e-90 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the multigene protein kinase D family of serine/threonine kinases, which bind diacylglycerol and phorbol esters. Members of this family are characterized by an N-terminal regulatory domain comprised of a tandem repeat of cysteine-rich zinc-finger motifs and a pleckstrin domain. The C-terminal region contains the catalytic domain and is distantly related to calcium-regulated kinases. Catalytic activity of this enzyme promotes its nuclear localization. This protein has been implicated in a variety of functions including negative regulation of human airway epithelial barrier formation, growth regulation of breast and prostate cancer cells, and vesicle trafficking. [provided by RefSeq, Jan 2015]
PHENOTYPE: Homozygous mutation of this gene results in abnormal vertebral trabecular bone morphology and abnormal femur morphology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,320,705 (GRCm39) |
V288A |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,711,810 (GRCm39) |
S135R |
|
Het |
| Axl |
G |
A |
7: 25,460,846 (GRCm39) |
T721I |
probably damaging |
Het |
| Blnk |
G |
A |
19: 40,922,962 (GRCm39) |
A388V |
probably benign |
Het |
| C8b |
T |
C |
4: 104,641,631 (GRCm39) |
V189A |
probably damaging |
Het |
| Ccdc33 |
G |
C |
9: 57,983,842 (GRCm39) |
I452M |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,412,048 (GRCm39) |
T1199A |
probably benign |
Het |
| Chga |
G |
A |
12: 102,528,144 (GRCm39) |
V212M |
probably benign |
Het |
| Cspp1 |
T |
A |
1: 10,186,875 (GRCm39) |
M887K |
probably damaging |
Het |
| Cyp3a16 |
G |
C |
5: 145,406,434 (GRCm39) |
A6G |
unknown |
Het |
| Cyp4f17 |
G |
T |
17: 32,743,868 (GRCm39) |
E349* |
probably null |
Het |
| Dnajc13 |
A |
T |
9: 104,085,039 (GRCm39) |
D791E |
probably benign |
Het |
| Dpysl5 |
T |
C |
5: 30,935,397 (GRCm39) |
Y167H |
probably benign |
Het |
| Dqx1 |
G |
T |
6: 83,036,759 (GRCm39) |
Q254H |
possibly damaging |
Het |
| Eef1g |
A |
G |
19: 8,955,383 (GRCm39) |
T411A |
probably benign |
Het |
| Fancl |
C |
A |
11: 26,337,231 (GRCm39) |
A6E |
probably benign |
Het |
| Gabrr3 |
A |
G |
16: 59,227,830 (GRCm39) |
Q29R |
probably benign |
Het |
| Gtf2h2 |
A |
C |
13: 100,617,778 (GRCm39) |
L168R |
probably damaging |
Het |
| Hacl1 |
T |
A |
14: 31,338,338 (GRCm39) |
Q413L |
probably benign |
Het |
| Hdc |
A |
T |
2: 126,439,837 (GRCm39) |
V372E |
probably damaging |
Het |
| Hr |
A |
T |
14: 70,795,079 (GRCm39) |
H208L |
possibly damaging |
Het |
| Htr6 |
T |
C |
4: 138,789,501 (GRCm39) |
R255G |
possibly damaging |
Het |
| Jup |
C |
T |
11: 100,270,391 (GRCm39) |
C372Y |
probably damaging |
Het |
| Kank2 |
A |
G |
9: 21,681,370 (GRCm39) |
V747A |
probably damaging |
Het |
| Kif5c |
A |
G |
2: 49,620,291 (GRCm39) |
T508A |
probably benign |
Het |
| Klhdc8b |
A |
G |
9: 108,326,927 (GRCm39) |
V145A |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,754,924 (GRCm39) |
V73D |
probably damaging |
Het |
| Ksr1 |
T |
A |
11: 78,911,572 (GRCm39) |
M737L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,328,564 (GRCm39) |
Y4723C |
probably damaging |
Het |
| Mcm7 |
T |
C |
5: 138,167,397 (GRCm39) |
Y182C |
probably damaging |
Het |
| Mtf2 |
T |
C |
5: 108,252,398 (GRCm39) |
|
probably null |
Het |
| Nrxn2 |
A |
T |
19: 6,498,299 (GRCm39) |
T255S |
probably benign |
Het |
| Or10v9 |
A |
G |
19: 11,832,666 (GRCm39) |
L217P |
probably damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,649 (GRCm39) |
T5S |
probably damaging |
Het |
| Or11g25 |
T |
C |
14: 50,723,707 (GRCm39) |
L264P |
probably damaging |
Het |
| Or2z2 |
T |
A |
11: 58,345,999 (GRCm39) |
T259S |
possibly damaging |
Het |
| Or52k2 |
T |
A |
7: 102,254,185 (GRCm39) |
I208N |
probably damaging |
Het |
| Or9m1 |
A |
T |
2: 87,733,108 (GRCm39) |
M304K |
probably benign |
Het |
| Pamr1 |
T |
A |
2: 102,464,766 (GRCm39) |
V305E |
probably benign |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
C |
T |
6: 4,757,128 (GRCm39) |
T568M |
unknown |
Het |
| Polr3a |
A |
G |
14: 24,519,416 (GRCm39) |
F664S |
probably damaging |
Het |
| Prb1a |
T |
A |
6: 132,185,306 (GRCm39) |
N109I |
unknown |
Het |
| Prdm2 |
T |
C |
4: 142,858,752 (GRCm39) |
I1513V |
probably benign |
Het |
| Prss16 |
A |
G |
13: 22,192,513 (GRCm39) |
S151P |
probably damaging |
Het |
| Rnf150 |
C |
T |
8: 83,590,588 (GRCm39) |
|
probably benign |
Het |
| Rttn |
A |
G |
18: 89,038,261 (GRCm39) |
T786A |
probably benign |
Het |
| Scin |
A |
G |
12: 40,113,236 (GRCm39) |
V645A |
possibly damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,557,398 (GRCm39) |
M177K |
probably benign |
Het |
| Slc2a6 |
G |
A |
2: 26,914,334 (GRCm39) |
S261L |
possibly damaging |
Het |
| Slc4a7 |
A |
T |
14: 14,796,115 (GRCm38) |
D1118V |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,358,709 (GRCm39) |
W351R |
probably damaging |
Het |
| Sp8 |
G |
A |
12: 118,812,174 (GRCm39) |
G10S |
probably damaging |
Het |
| St8sia2 |
A |
G |
7: 73,616,513 (GRCm39) |
I175T |
probably damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,688,779 (GRCm39) |
N38I |
probably benign |
Het |
| Trim31 |
C |
T |
17: 37,209,382 (GRCm39) |
T46M |
possibly damaging |
Het |
| Trim31 |
A |
G |
17: 37,220,145 (GRCm39) |
K354E |
probably benign |
Het |
| Trio |
G |
A |
15: 27,749,922 (GRCm39) |
Q2260* |
probably null |
Het |
| Trpm1 |
T |
C |
7: 63,848,943 (GRCm39) |
I63T |
probably benign |
Het |
| Ugt2b37 |
T |
C |
5: 87,399,636 (GRCm39) |
K291E |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,627,162 (GRCm39) |
T499A |
probably benign |
Het |
| Vmn1r35 |
T |
C |
6: 66,655,933 (GRCm39) |
I246V |
probably benign |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,277 (GRCm39) |
S186P |
probably benign |
Het |
| Vmn2r76 |
T |
A |
7: 85,879,170 (GRCm39) |
M377L |
probably benign |
Het |
| Zeb2 |
A |
C |
2: 44,878,637 (GRCm39) |
M1243R |
possibly damaging |
Het |
|
| Other mutations in Prkd3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00990:Prkd3
|
APN |
17 |
79,261,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01775:Prkd3
|
APN |
17 |
79,320,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01875:Prkd3
|
APN |
17 |
79,264,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01892:Prkd3
|
APN |
17 |
79,279,930 (GRCm39) |
missense |
probably benign |
0.13 |
|
FR4304:Prkd3
|
UTSW |
17 |
79,283,249 (GRCm39) |
splice site |
probably null |
|
|
R0070:Prkd3
|
UTSW |
17 |
79,261,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0070:Prkd3
|
UTSW |
17 |
79,261,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0374:Prkd3
|
UTSW |
17 |
79,264,644 (GRCm39) |
missense |
probably null |
1.00 |
|
R0688:Prkd3
|
UTSW |
17 |
79,264,662 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1112:Prkd3
|
UTSW |
17 |
79,273,837 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1364:Prkd3
|
UTSW |
17 |
79,264,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1382:Prkd3
|
UTSW |
17 |
79,264,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Prkd3
|
UTSW |
17 |
79,278,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Prkd3
|
UTSW |
17 |
79,260,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1645:Prkd3
|
UTSW |
17 |
79,263,949 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2035:Prkd3
|
UTSW |
17 |
79,282,802 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2187:Prkd3
|
UTSW |
17 |
79,282,983 (GRCm39) |
missense |
probably benign |
|
|
R2250:Prkd3
|
UTSW |
17 |
79,275,507 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2850:Prkd3
|
UTSW |
17 |
79,262,025 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3625:Prkd3
|
UTSW |
17 |
79,292,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3773:Prkd3
|
UTSW |
17 |
79,266,535 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3973:Prkd3
|
UTSW |
17 |
79,266,570 (GRCm39) |
splice site |
probably benign |
|
|
R4089:Prkd3
|
UTSW |
17 |
79,278,817 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4407:Prkd3
|
UTSW |
17 |
79,290,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4453:Prkd3
|
UTSW |
17 |
79,290,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4697:Prkd3
|
UTSW |
17 |
79,268,600 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4715:Prkd3
|
UTSW |
17 |
79,259,366 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4754:Prkd3
|
UTSW |
17 |
79,264,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4955:Prkd3
|
UTSW |
17 |
79,260,156 (GRCm39) |
missense |
probably null |
0.95 |
|
R5412:Prkd3
|
UTSW |
17 |
79,262,140 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6163:Prkd3
|
UTSW |
17 |
79,273,784 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6280:Prkd3
|
UTSW |
17 |
79,289,360 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7074:Prkd3
|
UTSW |
17 |
79,282,236 (GRCm39) |
nonsense |
probably null |
|
|
R7153:Prkd3
|
UTSW |
17 |
79,273,784 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7335:Prkd3
|
UTSW |
17 |
79,261,995 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7492:Prkd3
|
UTSW |
17 |
79,269,974 (GRCm39) |
nonsense |
probably null |
|
|
R7819:Prkd3
|
UTSW |
17 |
79,279,930 (GRCm39) |
missense |
probably benign |
0.13 |
|
R7962:Prkd3
|
UTSW |
17 |
79,315,691 (GRCm39) |
start codon destroyed |
not run |
|
|
R8884:Prkd3
|
UTSW |
17 |
79,282,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8956:Prkd3
|
UTSW |
17 |
79,278,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9039:Prkd3
|
UTSW |
17 |
79,280,003 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9110:Prkd3
|
UTSW |
17 |
79,292,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9219:Prkd3
|
UTSW |
17 |
79,273,628 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9399:Prkd3
|
UTSW |
17 |
79,264,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9466:Prkd3
|
UTSW |
17 |
79,264,049 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9566:Prkd3
|
UTSW |
17 |
79,292,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Prkd3
|
UTSW |
17 |
79,264,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Prkd3
|
UTSW |
17 |
79,268,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGCTGCTCTCCAGAGTC -3'
(R):5'- TGAGCCCTTAGTAGGACATTATGTC -3'
Sequencing Primer
(F):5'- AGAGTCTGACTCCCAGGATTC -3'
(R):5'- GACATTATGTCACAGATCTATGCTG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation