Incidental Mutation 'R9219:Prkd3'
| ID |
699386 |
| 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 # |
R9219 (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 G
at 79273628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 543
(S543P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113395
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003191]
[ENSMUST00000118768]
[ENSMUST00000119284]
[ENSMUST00000168887]
|
| AlphaFold |
Q8K1Y2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003191
AA Change: S543P
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: S543P
| 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: S448P
PolyPhen 2
Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: S448P
| 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: ENSMUST00000119284
AA Change: S543P
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: S543P
| 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: S543P
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: S543P
| 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: 99.7%
- 20x: 99.0%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alx1 |
A |
T |
10: 102,858,121 (GRCm39) |
Y193N |
probably damaging |
Het |
| Cmtm2a |
A |
G |
8: 105,008,101 (GRCm39) |
F116S |
probably damaging |
Het |
| Dennd4a |
A |
T |
9: 64,796,376 (GRCm39) |
M801L |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,334,317 (GRCm39) |
V992A |
possibly damaging |
Het |
| Dop1b |
C |
A |
16: 93,567,184 (GRCm39) |
R1322S |
probably damaging |
Het |
| Dusp7 |
T |
C |
9: 106,248,212 (GRCm39) |
V280A |
probably damaging |
Het |
| Efcab3 |
A |
C |
11: 104,836,691 (GRCm39) |
S3560R |
unknown |
Het |
| Flg |
A |
G |
3: 93,198,406 (GRCm39) |
E245G |
possibly damaging |
Het |
| Garnl3 |
A |
G |
2: 32,975,898 (GRCm39) |
S68P |
probably damaging |
Het |
| Grin1 |
T |
C |
2: 25,187,678 (GRCm39) |
T582A |
possibly damaging |
Het |
| Hectd1 |
A |
G |
12: 51,800,612 (GRCm39) |
C2069R |
probably damaging |
Het |
| Herc3 |
T |
A |
6: 58,871,552 (GRCm39) |
I867K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,594,844 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
T |
A |
6: 69,608,689 (GRCm39) |
M77L |
probably benign |
Het |
| Kcnmb4 |
G |
C |
10: 116,309,372 (GRCm39) |
R19G |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,010,232 (GRCm39) |
T282A |
probably damaging |
Het |
| Lrrc58 |
T |
A |
16: 37,689,180 (GRCm39) |
L108Q |
probably damaging |
Het |
| Macf1 |
C |
A |
4: 123,301,554 (GRCm39) |
A983S |
possibly damaging |
Het |
| Mcf2l |
A |
T |
8: 13,061,383 (GRCm39) |
N794I |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,119,377 (GRCm39) |
F469L |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,370,800 (GRCm39) |
C3244* |
probably null |
Het |
| Myo16 |
G |
T |
8: 10,492,236 (GRCm39) |
R726L |
unknown |
Het |
| Naaa |
A |
G |
5: 92,425,864 (GRCm39) |
V43A |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,297,213 (GRCm39) |
V941A |
probably benign |
Het |
| Nbea |
AC |
A |
3: 55,998,393 (GRCm39) |
|
probably null |
Het |
| Nlrp4e |
T |
C |
7: 23,020,941 (GRCm39) |
V476A |
possibly damaging |
Het |
| Or1e23 |
A |
C |
11: 73,407,801 (GRCm39) |
S75A |
probably damaging |
Het |
| Pcdh20 |
T |
G |
14: 88,706,255 (GRCm39) |
R348S |
probably benign |
Het |
| Pom121l12 |
C |
A |
11: 14,549,809 (GRCm39) |
P172T |
probably damaging |
Het |
| Pramel26 |
G |
A |
4: 143,537,303 (GRCm39) |
R343C |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,745,632 (GRCm39) |
Q2446R |
probably benign |
Het |
| Qrich2 |
A |
C |
11: 116,335,900 (GRCm39) |
S345A |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,742,584 (GRCm39) |
E498G |
possibly damaging |
Het |
| Sh3d19 |
A |
G |
3: 86,030,507 (GRCm39) |
T675A |
possibly damaging |
Het |
| Tasor |
T |
A |
14: 27,186,344 (GRCm39) |
Y848N |
possibly damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,531 (GRCm39) |
D109G |
probably damaging |
Het |
| Ubl3 |
T |
C |
5: 148,443,270 (GRCm39) |
E96G |
probably damaging |
Het |
| Zfp780b |
T |
C |
7: 27,663,806 (GRCm39) |
T250A |
probably benign |
Het |
| Zfp871 |
A |
T |
17: 32,993,914 (GRCm39) |
N420K |
probably benign |
Het |
| Zfp949 |
C |
T |
9: 88,451,723 (GRCm39) |
T431M |
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 |
|
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 |
|
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'- CACCTCAGATCTGACAGCAG -3'
(R):5'- AAATCATCACCGATACCGTGG -3'
Sequencing Primer
(F):5'- GCTGTGAATATATATATCCTGGAGCC -3'
(R):5'- ACCGATACCGTGGTATACTTTG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation