Incidental Mutation 'IGL01875:Prkd3'
| ID |
178858 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prkd3
|
| Ensembl Gene |
ENSMUSG00000024070 |
| Gene Name |
protein kinase D3 |
| Synonyms |
4930557O20Rik, PKD3, 5730497N19Rik, Prkcn |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
IGL01875
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
79256834-79328245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 79264635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 660
(E660G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003191]
[ENSMUST00000118768]
[ENSMUST00000119284]
[ENSMUST00000168887]
|
| AlphaFold |
Q8K1Y2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003191
AA Change: E660G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: E660G
| 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 |
possibly damaging
Transcript: ENSMUST00000118768
AA Change: E566G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: E566G
| 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: E661G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: E661G
| 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: E660G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: E660G
| 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 |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam11 |
A |
G |
11: 102,663,682 (GRCm39) |
T287A |
probably damaging |
Het |
| Afm |
G |
T |
5: 90,696,742 (GRCm39) |
|
probably benign |
Het |
| Ankrd24 |
A |
G |
10: 81,465,571 (GRCm39) |
|
probably benign |
Het |
| Ankrd53 |
G |
T |
6: 83,740,031 (GRCm39) |
E62* |
probably null |
Het |
| Atg4b |
A |
G |
1: 93,706,032 (GRCm39) |
S162G |
probably damaging |
Het |
| B530045E10Rik |
A |
T |
10: 99,258,177 (GRCm39) |
|
noncoding transcript |
Het |
| Ccng1 |
A |
G |
11: 40,643,183 (GRCm39) |
V88A |
probably benign |
Het |
| Ces1e |
T |
A |
8: 93,950,524 (GRCm39) |
M86L |
probably benign |
Het |
| Chrne |
A |
T |
11: 70,509,498 (GRCm39) |
|
probably null |
Het |
| Ctsh |
T |
C |
9: 89,946,260 (GRCm39) |
S109P |
probably damaging |
Het |
| Eif4g1 |
A |
C |
16: 20,499,790 (GRCm39) |
I420L |
probably damaging |
Het |
| Ep300 |
T |
A |
15: 81,524,224 (GRCm39) |
S1351T |
unknown |
Het |
| Fgfr1 |
A |
G |
8: 26,063,569 (GRCm39) |
M732V |
possibly damaging |
Het |
| Gata5 |
T |
G |
2: 179,969,138 (GRCm39) |
|
probably benign |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm3633 |
A |
T |
14: 42,461,234 (GRCm39) |
M18K |
probably damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,657,595 (GRCm39) |
L211P |
probably damaging |
Het |
| Hemgn |
T |
C |
4: 46,396,994 (GRCm39) |
N81D |
possibly damaging |
Het |
| Irs2 |
A |
T |
8: 11,056,221 (GRCm39) |
M737K |
probably damaging |
Het |
| Itgb7 |
C |
A |
15: 102,126,430 (GRCm39) |
C502F |
probably damaging |
Het |
| Jakmip1 |
G |
T |
5: 37,278,324 (GRCm39) |
A534S |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,107,728 (GRCm39) |
H1636R |
probably benign |
Het |
| Kirrel1 |
T |
A |
3: 87,003,037 (GRCm39) |
I119F |
probably damaging |
Het |
| Lrba |
T |
C |
3: 86,217,354 (GRCm39) |
V527A |
probably damaging |
Het |
| Mitf |
A |
G |
6: 97,994,856 (GRCm39) |
E409G |
probably benign |
Het |
| Mtrr |
T |
G |
13: 68,720,728 (GRCm39) |
K289T |
probably damaging |
Het |
| Muc2 |
A |
T |
7: 141,306,477 (GRCm39) |
I739F |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,142,934 (GRCm39) |
T612A |
unknown |
Het |
| Or12e7 |
T |
A |
2: 87,287,654 (GRCm39) |
N48K |
probably damaging |
Het |
| Or1x2 |
A |
T |
11: 50,918,202 (GRCm39) |
R124S |
probably damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,791 (GRCm39) |
|
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,341,594 (GRCm39) |
N5K |
probably damaging |
Het |
| P4ha3 |
T |
A |
7: 99,949,859 (GRCm39) |
C109S |
probably damaging |
Het |
| Rbm4b |
G |
A |
19: 4,812,219 (GRCm39) |
M209I |
probably benign |
Het |
| Reln |
T |
A |
5: 22,109,715 (GRCm39) |
T3132S |
probably benign |
Het |
| Selenbp2 |
T |
A |
3: 94,605,451 (GRCm39) |
D92E |
possibly damaging |
Het |
| Slfn8 |
G |
T |
11: 82,894,905 (GRCm39) |
Q634K |
probably benign |
Het |
| Sumo3 |
A |
T |
10: 77,449,832 (GRCm39) |
I57F |
probably benign |
Het |
| Tacr1 |
A |
G |
6: 82,533,997 (GRCm39) |
Y341C |
probably benign |
Het |
| Tlr4 |
T |
A |
4: 66,757,726 (GRCm39) |
L173Q |
probably damaging |
Het |
| Tshz3 |
C |
T |
7: 36,469,385 (GRCm39) |
T458M |
probably damaging |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,859 (GRCm39) |
C259* |
probably null |
Het |
| Vmn2r16 |
T |
C |
5: 109,478,277 (GRCm39) |
F11L |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,484,302 (GRCm39) |
M633L |
probably benign |
Het |
| Vmn2r35 |
T |
C |
7: 7,819,772 (GRCm39) |
|
probably benign |
Het |
| Vwc2l |
G |
T |
1: 70,768,172 (GRCm39) |
A79S |
probably benign |
Het |
| Zfhx2 |
G |
A |
14: 55,301,372 (GRCm39) |
S2204F |
unknown |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation