Incidental Mutation 'IGL01775:Prkd3'
| ID |
154086 |
| 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 # |
IGL01775
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
79256834-79328245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 79320189 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 51
(T51K)
|
| 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: T51K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: T51K
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
| 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: T51K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: T51K
| 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 |
noncoding transcript
Transcript: ENSMUST00000130070
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146917
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168887
AA Change: T51K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: T51K
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatf |
A |
T |
11: 84,361,963 (GRCm39) |
L333Q |
probably damaging |
Het |
| Ablim3 |
A |
T |
18: 61,949,989 (GRCm39) |
|
probably benign |
Het |
| Acsl6 |
T |
C |
11: 54,236,826 (GRCm39) |
|
probably benign |
Het |
| Adra1b |
T |
A |
11: 43,726,128 (GRCm39) |
D263V |
probably damaging |
Het |
| Aicda |
G |
A |
6: 122,538,012 (GRCm39) |
V57M |
probably damaging |
Het |
| C2cd3 |
T |
C |
7: 100,092,638 (GRCm39) |
W494R |
probably damaging |
Het |
| Ccnb1 |
T |
C |
13: 100,920,017 (GRCm39) |
S165G |
probably benign |
Het |
| Cnot4 |
A |
T |
6: 35,046,411 (GRCm39) |
|
probably benign |
Het |
| Dph6 |
A |
T |
2: 114,348,776 (GRCm39) |
|
probably benign |
Het |
| Emc3 |
A |
G |
6: 113,508,296 (GRCm39) |
S50P |
possibly damaging |
Het |
| Fbxo45 |
A |
C |
16: 32,052,093 (GRCm39) |
|
probably null |
Het |
| Gm14496 |
A |
T |
2: 181,642,125 (GRCm39) |
T599S |
probably benign |
Het |
| Gspt1 |
T |
C |
16: 11,041,159 (GRCm39) |
I535V |
possibly damaging |
Het |
| Hemk1 |
A |
G |
9: 107,207,995 (GRCm39) |
I215T |
possibly damaging |
Het |
| Ighm |
A |
T |
12: 113,386,087 (GRCm39) |
C88S |
unknown |
Het |
| Itih2 |
A |
C |
2: 10,134,097 (GRCm39) |
D38E |
probably benign |
Het |
| Lat |
C |
A |
7: 125,967,261 (GRCm39) |
V113L |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,981,269 (GRCm39) |
F480L |
possibly damaging |
Het |
| Mki67 |
A |
T |
7: 135,300,005 (GRCm39) |
S1676R |
possibly damaging |
Het |
| Msh2 |
A |
T |
17: 87,990,074 (GRCm39) |
N254I |
possibly damaging |
Het |
| Naglu |
T |
C |
11: 100,964,921 (GRCm39) |
M336T |
probably damaging |
Het |
| Nhsl1 |
C |
T |
10: 18,400,222 (GRCm39) |
R483C |
probably damaging |
Het |
| Nsmaf |
C |
T |
4: 6,396,791 (GRCm39) |
E899K |
possibly damaging |
Het |
| Nup85 |
T |
C |
11: 115,471,593 (GRCm39) |
Y181H |
probably damaging |
Het |
| Or52n2 |
A |
T |
7: 104,542,499 (GRCm39) |
M112K |
possibly damaging |
Het |
| Or5m5 |
T |
C |
2: 85,815,014 (GRCm39) |
S277P |
probably damaging |
Het |
| Or7g35 |
A |
T |
9: 19,496,001 (GRCm39) |
Q56L |
probably benign |
Het |
| Or8g23 |
C |
A |
9: 38,971,763 (GRCm39) |
L66F |
probably damaging |
Het |
| P2rx3 |
C |
T |
2: 84,854,501 (GRCm39) |
R91H |
probably benign |
Het |
| Plag1 |
T |
C |
4: 3,904,513 (GRCm39) |
D226G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,090,393 (GRCm39) |
F96I |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,865,112 (GRCm39) |
N399S |
probably benign |
Het |
| Ptprc |
T |
C |
1: 137,992,497 (GRCm39) |
Y1210C |
probably damaging |
Het |
| Rbm43 |
A |
T |
2: 51,815,460 (GRCm39) |
S254T |
probably damaging |
Het |
| Retsat |
G |
A |
6: 72,584,300 (GRCm39) |
R528Q |
probably damaging |
Het |
| Rlig1 |
A |
T |
10: 100,419,799 (GRCm39) |
L94Q |
probably benign |
Het |
| Rps8 |
C |
A |
4: 117,012,249 (GRCm39) |
R56L |
probably benign |
Het |
| Samhd1 |
A |
T |
2: 156,956,250 (GRCm39) |
|
probably benign |
Het |
| Sfxn1 |
T |
C |
13: 54,259,758 (GRCm39) |
|
probably benign |
Het |
| Stk33 |
T |
A |
7: 108,911,574 (GRCm39) |
E396D |
possibly damaging |
Het |
| Tcaim |
T |
C |
9: 122,647,890 (GRCm39) |
V135A |
probably damaging |
Het |
| Thsd7b |
A |
G |
1: 129,556,676 (GRCm39) |
D421G |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,640,215 (GRCm39) |
D1374G |
possibly damaging |
Het |
| Wnk2 |
C |
A |
13: 49,224,586 (GRCm39) |
D232Y |
probably damaging |
Het |
| Zfand1 |
T |
C |
3: 10,409,926 (GRCm39) |
T145A |
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 |
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation