Incidental Mutation 'R2187:Prkd3'
| ID |
237902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkd3
|
| Ensembl Gene |
ENSMUSG00000024070 |
| Gene Name |
protein kinase D3 |
| Synonyms |
4930557O20Rik, PKD3, 5730497N19Rik, Prkcn |
| MMRRC Submission |
040189-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.135)
|
| Stock # |
R2187 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
79256834-79328245 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79282983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 244
(Q244L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132004
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003191]
[ENSMUST00000118768]
[ENSMUST00000118991]
[ENSMUST00000119284]
[ENSMUST00000168887]
|
| AlphaFold |
Q8K1Y2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003191
AA Change: Q244L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000003191
Gene: ENSMUSG00000024070
AA Change: Q244L
| 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: Q149L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113232
Gene: ENSMUSG00000024070
AA Change: Q149L
| 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: ENSMUST00000118991
AA Change: Q140L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112775
Gene: ENSMUSG00000024070
AA Change: Q140L
| Domain | Start | End | E-Value | Type |
|---|
|
C1
|
51 |
100 |
1.95e-13 |
SMART |
|
C1
|
168 |
217 |
1.26e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119284
AA Change: Q244L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113395
Gene: ENSMUSG00000024070
AA Change: Q244L
| 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: ENSMUST00000124229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146917
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168887
AA Change: Q244L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132004
Gene: ENSMUSG00000024070
AA Change: Q244L
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
T |
A |
17: 31,324,491 (GRCm39) |
S245R |
probably damaging |
Het |
| AI597479 |
T |
A |
1: 43,139,983 (GRCm39) |
W70R |
probably damaging |
Het |
| Ankrd55 |
A |
G |
13: 112,520,039 (GRCm39) |
S575G |
probably benign |
Het |
| Bfsp2 |
T |
A |
9: 103,303,976 (GRCm39) |
K343* |
probably null |
Het |
| Cant1 |
A |
T |
11: 118,299,667 (GRCm39) |
Y227* |
probably null |
Het |
| Cd2bp2 |
T |
C |
7: 126,793,963 (GRCm39) |
N109D |
probably benign |
Het |
| Chmp6 |
A |
G |
11: 119,807,562 (GRCm39) |
E135G |
possibly damaging |
Het |
| Dsp |
T |
G |
13: 38,360,383 (GRCm39) |
S329R |
probably damaging |
Het |
| Epha5 |
A |
T |
5: 84,234,223 (GRCm39) |
F767L |
probably damaging |
Het |
| Epha7 |
A |
T |
4: 28,942,648 (GRCm39) |
T566S |
possibly damaging |
Het |
| Erap1 |
A |
T |
13: 74,810,524 (GRCm39) |
I288F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,537,266 (GRCm39) |
|
probably null |
Het |
| Fbxo10 |
A |
G |
4: 45,058,531 (GRCm39) |
V402A |
probably benign |
Het |
| Fndc1 |
T |
A |
17: 7,960,604 (GRCm39) |
I1604F |
probably damaging |
Het |
| Foxd4 |
T |
G |
19: 24,877,219 (GRCm39) |
Q327P |
probably damaging |
Het |
| Fxn |
T |
A |
19: 24,257,853 (GRCm39) |
N26I |
probably benign |
Het |
| Hsf5 |
G |
T |
11: 87,529,010 (GRCm39) |
G582C |
possibly damaging |
Het |
| Itga8 |
A |
G |
2: 12,199,231 (GRCm39) |
V522A |
possibly damaging |
Het |
| Kplce |
A |
G |
3: 92,775,922 (GRCm39) |
S254P |
probably damaging |
Het |
| Lyst |
C |
T |
13: 13,883,926 (GRCm39) |
T2938I |
possibly damaging |
Het |
| Mib2 |
T |
C |
4: 155,739,390 (GRCm39) |
E863G |
possibly damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,884,797 (GRCm39) |
F290S |
probably damaging |
Het |
| Mst1 |
T |
C |
9: 107,961,539 (GRCm39) |
Y599H |
possibly damaging |
Het |
| Mylk4 |
T |
C |
13: 32,905,996 (GRCm39) |
I165V |
probably damaging |
Het |
| Nipsnap2 |
T |
C |
5: 129,823,537 (GRCm39) |
|
probably null |
Het |
| Nol8 |
T |
C |
13: 49,815,475 (GRCm39) |
Y528H |
probably benign |
Het |
| Nup93 |
T |
A |
8: 95,027,478 (GRCm39) |
S295R |
probably damaging |
Het |
| Nutm2 |
A |
T |
13: 50,621,453 (GRCm39) |
Q6L |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,555 (GRCm39) |
I46N |
probably damaging |
Het |
| Or5ak20 |
T |
G |
2: 85,184,259 (GRCm39) |
S4R |
probably benign |
Het |
| Or5b12b |
T |
A |
19: 12,861,619 (GRCm39) |
C125S |
probably damaging |
Het |
| Or6c33 |
A |
G |
10: 129,853,557 (GRCm39) |
E109G |
probably damaging |
Het |
| Pip5k1a |
A |
T |
3: 94,979,229 (GRCm39) |
L189Q |
probably damaging |
Het |
| Plekha4 |
C |
T |
7: 45,198,698 (GRCm39) |
R574C |
probably damaging |
Het |
| Ppp2cb |
A |
G |
8: 34,100,705 (GRCm39) |
E42G |
possibly damaging |
Het |
| Ptpn14 |
C |
T |
1: 189,595,425 (GRCm39) |
R1023* |
probably null |
Het |
| Ptpra |
A |
G |
2: 130,346,219 (GRCm39) |
T127A |
probably benign |
Het |
| Rad54l2 |
ACCTCCTCCTCCTCCTCCTCCTCCTC |
ACCTCCTCCTCCTCCTCCTCCTC |
9: 106,631,191 (GRCm39) |
|
probably benign |
Het |
| Rasgrf1 |
T |
C |
9: 89,876,888 (GRCm39) |
I751T |
possibly damaging |
Het |
| Rbm27 |
A |
G |
18: 42,459,022 (GRCm39) |
K697R |
probably damaging |
Het |
| Rhoa |
C |
T |
9: 108,212,352 (GRCm39) |
T127M |
probably benign |
Het |
| Rnpepl1 |
A |
G |
1: 92,844,617 (GRCm39) |
S370G |
probably null |
Het |
| Sdk1 |
C |
T |
5: 142,100,329 (GRCm39) |
T1453I |
probably damaging |
Het |
| Sel1l2 |
A |
G |
2: 140,072,793 (GRCm39) |
L614S |
probably damaging |
Het |
| Slc6a20b |
T |
A |
9: 123,427,653 (GRCm39) |
I419F |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,982 (GRCm39) |
S352N |
possibly damaging |
Het |
| Spta1 |
A |
G |
1: 174,020,532 (GRCm39) |
D547G |
probably damaging |
Het |
| Tc2n |
G |
A |
12: 101,672,803 (GRCm39) |
T46I |
probably damaging |
Het |
| Terb1 |
T |
A |
8: 105,199,516 (GRCm39) |
Y476F |
probably benign |
Het |
| Trim12a |
T |
A |
7: 103,953,399 (GRCm39) |
E237D |
probably damaging |
Het |
| Usp47 |
T |
C |
7: 111,666,398 (GRCm39) |
L309P |
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 |
|
|
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'- TTACACTGCATCCCTTGGCG -3'
(R):5'- AAACTGCAATCTGCTGGTGG -3'
Sequencing Primer
(F):5'- CGGAAGAGGCCTTTCAGCAG -3'
(R):5'- CTCTTCGTACTTGTGTTAGGAATTAC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation