Incidental Mutation 'R9039:Prkd3'
| ID |
687636 |
| 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: 0.124)
|
| Stock # |
R9039 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
79256834-79328245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 79280003 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 334
(V334E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003191]
[ENSMUST00000118768]
[ENSMUST00000118991]
[ENSMUST00000119284]
[ENSMUST00000168887]
|
| AlphaFold |
Q8K1Y2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003191
AA Change: V334E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: V334E
| 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: V239E
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: V239E
| 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 |
probably benign
Transcript: ENSMUST00000118991
AA Change: V230E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112775
Gene: ENSMUSG00000024070
AA Change: V230E
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
51 |
100 |
1.95e-13 |
SMART |
|
C1
|
168 |
217 |
1.26e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119284
AA Change: V334E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: V334E
| 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 |
probably benign
Transcript: ENSMUST00000168887
AA Change: V334E
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: V334E
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (68/68) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,213,849 (GRCm39) |
V692A |
possibly damaging |
Het |
| Aco2 |
C |
G |
15: 81,756,620 (GRCm39) |
|
probably benign |
Het |
| Adcy10 |
T |
C |
1: 165,345,914 (GRCm39) |
I321T |
probably damaging |
Het |
| Agbl2 |
C |
T |
2: 90,645,730 (GRCm39) |
T821I |
probably benign |
Het |
| Alpk1 |
A |
G |
3: 127,473,192 (GRCm39) |
L937P |
probably damaging |
Het |
| Atp5f1b |
A |
G |
10: 127,919,767 (GRCm39) |
D45G |
probably benign |
Het |
| C8a |
C |
T |
4: 104,679,200 (GRCm39) |
R530H |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,016,057 (GRCm39) |
S694P |
probably benign |
Het |
| Cdca7 |
T |
A |
2: 72,312,856 (GRCm39) |
D162E |
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,936,907 (GRCm39) |
Q600K |
probably benign |
Het |
| Cert1 |
C |
T |
13: 96,679,717 (GRCm39) |
P16S |
probably benign |
Het |
| Coq8b |
A |
C |
7: 26,950,011 (GRCm39) |
R363S |
probably benign |
Het |
| Cpne3 |
A |
T |
4: 19,540,770 (GRCm39) |
C202S |
probably damaging |
Het |
| Csmd3 |
G |
T |
15: 47,483,308 (GRCm39) |
|
probably benign |
Het |
| Cyp4a14 |
A |
T |
4: 115,344,461 (GRCm39) |
V468E |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,405,215 (GRCm39) |
D2442E |
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,163,553 (GRCm39) |
Y49C |
probably benign |
Het |
| Dop1a |
A |
G |
9: 86,382,870 (GRCm39) |
R268G |
probably damaging |
Het |
| Eid3 |
C |
T |
10: 82,703,565 (GRCm39) |
S342L |
possibly damaging |
Het |
| Ezh2 |
A |
G |
6: 47,528,671 (GRCm39) |
L296P |
possibly damaging |
Het |
| Fgfrl1 |
G |
C |
5: 108,853,439 (GRCm39) |
|
probably null |
Het |
| Flg2 |
A |
G |
3: 93,110,899 (GRCm39) |
R976G |
unknown |
Het |
| Fsip2 |
C |
A |
2: 82,828,545 (GRCm39) |
Q6781K |
probably benign |
Het |
| Golga3 |
C |
T |
5: 110,352,799 (GRCm39) |
H857Y |
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,244,646 (GRCm39) |
V701E |
probably damaging |
Het |
| Il21 |
A |
T |
3: 37,286,602 (GRCm39) |
I38N |
probably benign |
Het |
| Ip6k2 |
G |
T |
9: 108,681,807 (GRCm39) |
G246V |
probably damaging |
Het |
| Ipo13 |
T |
C |
4: 117,758,185 (GRCm39) |
Q726R |
probably damaging |
Het |
| Itsn1 |
A |
T |
16: 91,703,658 (GRCm39) |
N1521Y |
unknown |
Het |
| Kif2b |
A |
G |
11: 91,467,131 (GRCm39) |
V384A |
possibly damaging |
Het |
| L3mbtl1 |
G |
T |
2: 162,807,988 (GRCm39) |
R541L |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,614,120 (GRCm39) |
C1296* |
probably null |
Het |
| Lars1 |
T |
C |
18: 42,390,234 (GRCm39) |
D11G |
probably damaging |
Het |
| Ly6c1 |
C |
A |
15: 74,917,300 (GRCm39) |
G116V |
probably damaging |
Het |
| Mmp27 |
C |
A |
9: 7,581,250 (GRCm39) |
F478L |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,155,251 (GRCm39) |
|
probably benign |
Het |
| Naaa |
T |
A |
5: 92,420,300 (GRCm39) |
|
probably benign |
Het |
| Nav1 |
T |
A |
1: 135,371,487 (GRCm39) |
Q1746L |
unknown |
Het |
| Nedd9 |
T |
C |
13: 41,471,984 (GRCm39) |
Y165C |
probably damaging |
Het |
| Neurod1 |
T |
C |
2: 79,284,720 (GRCm39) |
Y221C |
probably damaging |
Het |
| Or2q1 |
A |
T |
6: 42,794,545 (GRCm39) |
I47F |
probably damaging |
Het |
| Or4c122 |
G |
T |
2: 89,079,545 (GRCm39) |
F152L |
probably benign |
Het |
| Or5al6 |
T |
C |
2: 85,976,625 (GRCm39) |
Y151C |
probably damaging |
Het |
| Or9m1 |
T |
C |
2: 87,733,907 (GRCm39) |
T38A |
probably damaging |
Het |
| Orm3 |
A |
G |
4: 63,274,533 (GRCm39) |
N33D |
possibly damaging |
Het |
| Ppp1r3a |
G |
A |
6: 14,754,525 (GRCm39) |
P241S |
probably damaging |
Het |
| Ppp1r9a |
A |
G |
6: 5,134,657 (GRCm39) |
T949A |
probably benign |
Het |
| Prdx6 |
A |
T |
1: 161,078,619 (GRCm39) |
I23N |
probably damaging |
Het |
| Prr12 |
A |
T |
7: 44,684,146 (GRCm39) |
D1631E |
probably damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,819,551 (GRCm39) |
|
probably benign |
Het |
| Pum2 |
T |
G |
12: 8,794,430 (GRCm39) |
D773E |
probably damaging |
Het |
| Sidt2 |
A |
G |
9: 45,856,648 (GRCm39) |
C451R |
probably benign |
Het |
| Slc37a2 |
A |
G |
9: 37,148,658 (GRCm39) |
S275P |
probably benign |
Het |
| Slmap |
G |
T |
14: 26,254,519 (GRCm39) |
N54K |
probably benign |
Het |
| Susd4 |
A |
G |
1: 182,681,597 (GRCm39) |
D146G |
probably benign |
Het |
| Tekt3 |
G |
A |
11: 62,972,169 (GRCm39) |
R275H |
possibly damaging |
Het |
| Tkfc |
A |
G |
19: 10,573,612 (GRCm39) |
L242P |
probably damaging |
Het |
| Tm9sf2 |
T |
A |
14: 122,363,576 (GRCm39) |
L99I |
probably benign |
Het |
| Triqk |
A |
T |
4: 12,980,490 (GRCm39) |
D78V |
probably damaging |
Het |
| Trmo |
T |
C |
4: 46,382,322 (GRCm39) |
D258G |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,826,489 (GRCm39) |
V920A |
probably benign |
Het |
| Tspan17 |
C |
T |
13: 54,943,991 (GRCm39) |
Q257* |
probably null |
Het |
| Tube1 |
T |
A |
10: 39,011,017 (GRCm39) |
F45I |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,822 (GRCm39) |
T109A |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,367,902 (GRCm39) |
Y363* |
probably null |
Het |
| Zfp324 |
G |
T |
7: 12,705,455 (GRCm39) |
G548V |
probably benign |
Het |
| Zpld2 |
C |
A |
4: 133,922,858 (GRCm39) |
V492F |
probably 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 |
|
R9110:Prkd3
|
UTSW |
17 |
79,292,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9139:Prkd3
|
UTSW |
17 |
79,269,969 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
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'- TCCTGAATGGAGCTCCTGAC -3'
(R):5'- TGGTAGAGCACTTGCCTAGAG -3'
Sequencing Primer
(F):5'- GCCTTTATTAGCAGCGTAATGC -3'
(R):5'- AGCACTTGCCTAGAGTTTGCAAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation