Incidental Mutation 'R1645:Prkd3'
| ID |
173845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkd3
|
| Ensembl Gene |
ENSMUSG00000024070 |
| Gene Name |
protein kinase D3 |
| Synonyms |
4930557O20Rik, PKD3, 5730497N19Rik, Prkcn |
| MMRRC Submission |
039681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R1645 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
79256834-79328245 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 79263949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003191]
[ENSMUST00000118768]
[ENSMUST00000119284]
[ENSMUST00000168887]
|
| AlphaFold |
Q8K1Y2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003191
|
| SMART Domains |
Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
| 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 null
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 null
Transcript: ENSMUST00000119284
|
| SMART Domains |
Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
| 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 null
Transcript: ENSMUST00000168887
|
| SMART Domains |
Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.2%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,948,926 (GRCm39) |
M1732V |
probably benign |
Het |
| Acvr1 |
A |
T |
2: 58,352,911 (GRCm39) |
C350S |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,571,244 (GRCm39) |
V130D |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,500,166 (GRCm39) |
|
probably null |
Het |
| Asap1 |
A |
T |
15: 63,961,324 (GRCm39) |
V1116E |
probably damaging |
Het |
| Bcas1 |
T |
A |
2: 170,229,087 (GRCm39) |
D308V |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,400,879 (GRCm39) |
H1468Y |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 142,995,852 (GRCm39) |
C421R |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,959,571 (GRCm39) |
S363P |
probably damaging |
Het |
| Camk2b |
A |
T |
11: 5,922,719 (GRCm39) |
C484S |
probably damaging |
Het |
| Cby2 |
C |
A |
14: 75,821,089 (GRCm39) |
R212L |
probably benign |
Het |
| Ccny |
T |
C |
18: 9,345,199 (GRCm39) |
T192A |
probably damaging |
Het |
| Chl1 |
G |
T |
6: 103,660,141 (GRCm39) |
A356S |
probably benign |
Het |
| Dst |
T |
A |
1: 34,264,803 (GRCm39) |
Y4850N |
probably damaging |
Het |
| Dyrk4 |
C |
A |
6: 126,871,756 (GRCm39) |
E171* |
probably null |
Het |
| Entrep3 |
C |
A |
3: 89,094,154 (GRCm39) |
D322E |
possibly damaging |
Het |
| Ephb1 |
A |
G |
9: 101,804,758 (GRCm39) |
Y928H |
probably damaging |
Het |
| Fam114a2 |
A |
T |
11: 57,390,621 (GRCm39) |
N304K |
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,848,445 (GRCm39) |
D1820V |
possibly damaging |
Het |
| Gabbr2 |
A |
T |
4: 46,664,963 (GRCm39) |
|
probably null |
Het |
| Gm6358 |
T |
C |
16: 88,937,967 (GRCm39) |
W69R |
unknown |
Het |
| Ikbkb |
C |
A |
8: 23,181,082 (GRCm39) |
S127I |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,393,501 (GRCm39) |
M48K |
possibly damaging |
Het |
| Klra2 |
A |
T |
6: 131,220,857 (GRCm39) |
|
probably null |
Het |
| Lama1 |
A |
T |
17: 68,044,677 (GRCm39) |
Y192F |
probably benign |
Het |
| Lama2 |
T |
A |
10: 27,244,981 (GRCm39) |
T267S |
probably damaging |
Het |
| Mroh7 |
G |
A |
4: 106,577,865 (GRCm39) |
T271I |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,775,622 (GRCm39) |
E348G |
probably damaging |
Het |
| Nrp2 |
C |
T |
1: 62,824,283 (GRCm39) |
P796L |
probably damaging |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Or10al4 |
A |
T |
17: 38,037,229 (GRCm39) |
T114S |
probably benign |
Het |
| Or51i1 |
A |
G |
7: 103,671,210 (GRCm39) |
F105S |
probably damaging |
Het |
| Or9k7 |
T |
A |
10: 130,046,081 (GRCm39) |
D306V |
probably damaging |
Het |
| P3h2 |
T |
A |
16: 25,815,982 (GRCm39) |
H177L |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,423 (GRCm39) |
I461T |
probably benign |
Het |
| Pdlim3 |
A |
G |
8: 46,349,785 (GRCm39) |
I32V |
probably benign |
Het |
| Pigu |
A |
C |
2: 155,170,598 (GRCm39) |
Y143* |
probably null |
Het |
| Psrc1 |
C |
T |
3: 108,292,554 (GRCm39) |
R116W |
probably damaging |
Het |
| Rab5b |
A |
G |
10: 128,522,695 (GRCm39) |
S29P |
possibly damaging |
Het |
| Rbm26 |
A |
G |
14: 105,388,253 (GRCm39) |
V403A |
probably damaging |
Het |
| Rbm47 |
G |
T |
5: 66,184,481 (GRCm39) |
R41S |
probably benign |
Het |
| Rngtt |
A |
G |
4: 33,362,939 (GRCm39) |
I364M |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,733,368 (GRCm39) |
C2271* |
probably null |
Het |
| Shcbp1 |
T |
A |
8: 4,799,645 (GRCm39) |
Q277L |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,874,155 (GRCm39) |
T5A |
probably benign |
Het |
| Snx24 |
T |
C |
18: 53,522,634 (GRCm39) |
F163S |
probably benign |
Het |
| Srp72 |
T |
C |
5: 77,146,125 (GRCm39) |
V581A |
probably benign |
Het |
| Srrt |
T |
A |
5: 137,300,401 (GRCm39) |
K59* |
probably null |
Het |
| Tnrc6b |
A |
G |
15: 80,767,159 (GRCm39) |
T975A |
probably damaging |
Het |
| Vmn1r174 |
G |
A |
7: 23,453,777 (GRCm39) |
V148I |
possibly damaging |
Het |
| Vmn2r115 |
T |
A |
17: 23,565,192 (GRCm39) |
C360S |
possibly damaging |
Het |
| Vwa8 |
A |
T |
14: 79,420,427 (GRCm39) |
Q1709H |
probably damaging |
Het |
| Wdr11 |
A |
G |
7: 129,215,613 (GRCm39) |
T526A |
probably benign |
Het |
| Zfp532 |
C |
A |
18: 65,820,335 (GRCm39) |
N973K |
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 |
|
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 |
|
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'- ACAGTGCAGACAACTGCTAGAGAAC -3'
(R):5'- CCAGGTTGTAGGTCAGCATGGAAAG -3'
Sequencing Primer
(F):5'- GCATATTCAAAGGCTGCTTGC -3'
(R):5'- CATGGAAAGTCAGGGGTTCAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation