Incidental Mutation 'R1364:Prkd3'
| ID |
162866 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkd3
|
| Ensembl Gene |
ENSMUSG00000024070 |
| Gene Name |
protein kinase D3 |
| Synonyms |
4930557O20Rik, PKD3, 5730497N19Rik, Prkcn |
| MMRRC Submission |
039429-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R1364 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
79256834-79328245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79264687 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 643
(T643A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003191]
[ENSMUST00000118768]
[ENSMUST00000119284]
[ENSMUST00000168887]
|
| AlphaFold |
Q8K1Y2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003191
AA Change: T643A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: T643A
| 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 damaging
Transcript: ENSMUST00000118768
AA Change: T549A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: T549A
| 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 damaging
Transcript: ENSMUST00000119284
AA Change: T644A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: T644A
| 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 damaging
Transcript: ENSMUST00000168887
AA Change: T643A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: T643A
| 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 |
|
| Meta Mutation Damage Score |
0.3429 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.8%
|
| Validation Efficiency |
100% (38/38) |
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
T |
A |
10: 20,848,055 (GRCm39) |
L488I |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,179 (GRCm39) |
F2519S |
probably damaging |
Het |
| Cobll1 |
A |
G |
2: 64,956,654 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
T |
C |
5: 87,825,443 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 103,985,363 (GRCm39) |
S1920T |
possibly damaging |
Het |
| Dnah17 |
T |
A |
11: 118,016,432 (GRCm39) |
|
probably benign |
Het |
| Fanca |
G |
A |
8: 124,031,020 (GRCm39) |
|
probably benign |
Het |
| Fnbp1 |
T |
C |
2: 30,949,043 (GRCm39) |
|
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,307,375 (GRCm39) |
L1023Q |
probably damaging |
Het |
| Hjurp |
T |
TN |
1: 88,194,247 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,170,351 (GRCm39) |
T333A |
probably benign |
Het |
| Kcnt1 |
A |
G |
2: 25,798,106 (GRCm39) |
M906V |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,354,943 (GRCm39) |
T40I |
probably benign |
Het |
| Mid1 |
A |
C |
X: 168,769,090 (GRCm39) |
N215H |
probably damaging |
Het |
| Mug1 |
T |
A |
6: 121,858,672 (GRCm39) |
L1130Q |
probably damaging |
Het |
| Nebl |
A |
T |
2: 17,397,848 (GRCm39) |
|
probably benign |
Het |
| Or10q1b |
T |
C |
19: 13,682,809 (GRCm39) |
V206A |
probably benign |
Het |
| Otud7b |
A |
G |
3: 96,058,768 (GRCm39) |
D320G |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,225,310 (GRCm39) |
E563G |
possibly damaging |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rasl10b |
G |
A |
11: 83,308,665 (GRCm39) |
|
probably null |
Het |
| Ripk3 |
A |
C |
14: 56,022,717 (GRCm39) |
|
probably null |
Het |
| Sgsm3 |
T |
C |
15: 80,892,143 (GRCm39) |
F237S |
probably damaging |
Het |
| Slit3 |
G |
A |
11: 35,560,934 (GRCm39) |
V960I |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,782,693 (GRCm39) |
L543P |
probably damaging |
Het |
| Tll2 |
G |
A |
19: 41,108,667 (GRCm39) |
R328C |
probably damaging |
Het |
| Unkl |
A |
G |
17: 25,408,597 (GRCm39) |
I54V |
probably benign |
Het |
| Wdr75 |
A |
G |
1: 45,838,222 (GRCm39) |
T44A |
probably benign |
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 |
|
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 |
|
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'- GTCCCCAGTCCACACAAGATAGTTG -3'
(R):5'- TATGTCGGTCAGTGTCACGTACCC -3'
Sequencing Primer
(F):5'- ttcttctgacctacactgacac -3'
(R):5'- CTTTGTCTAATACAAAAGGAAGGGTG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation