Incidental Mutation 'R8923:Prkd2'
| ID |
679394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkd2
|
| Ensembl Gene |
ENSMUSG00000041187 |
| Gene Name |
protein kinase D2 |
| Synonyms |
PKD2 |
| MMRRC Submission |
068768-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8923 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16576827-16604386 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 16599682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Arginine
at position 715
(T715R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083273
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086104]
[ENSMUST00000168093]
|
| AlphaFold |
Q8BZ03 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086104
AA Change: T715R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000083273
Gene: ENSMUSG00000041187
AA Change: T715R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
C1
|
139 |
188 |
2.87e-11 |
SMART |
|
C1
|
266 |
315 |
1.28e-17 |
SMART |
|
low complexity region
|
353 |
373 |
N/A |
INTRINSIC |
|
PH
|
399 |
512 |
2.07e-6 |
SMART |
|
S_TKc
|
552 |
808 |
6.12e-92 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168093
AA Change: T715R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131192
Gene: ENSMUSG00000041187
AA Change: T715R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
43 |
N/A |
INTRINSIC |
|
C1
|
139 |
188 |
2.87e-11 |
SMART |
|
C1
|
266 |
315 |
1.28e-17 |
SMART |
|
low complexity region
|
353 |
373 |
N/A |
INTRINSIC |
|
PH
|
399 |
512 |
2.07e-6 |
SMART |
|
S_TKc
|
552 |
808 |
6.12e-92 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (53/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-in allele exhibit impaired IgM and IgG1 antigen responses and CD4+ and CD8+ T cell production of IL2 and IFN-gamma in response to TCR stimulation. Mice homozygous for a gene trap allele exhibit normal T lymphocyte maturation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ano1 |
A |
G |
7: 144,204,288 (GRCm39) |
Y308H |
possibly damaging |
Het |
| Ano6 |
T |
C |
15: 95,811,428 (GRCm39) |
I176T |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,126,931 (GRCm39) |
E273G |
probably benign |
Het |
| Arid1a |
A |
G |
4: 133,412,304 (GRCm39) |
I1245T |
unknown |
Het |
| Ash1l |
T |
C |
3: 88,892,974 (GRCm39) |
S1618P |
possibly damaging |
Het |
| Atp5f1e |
G |
T |
2: 174,304,309 (GRCm39) |
S49* |
probably null |
Het |
| Bsdc1 |
C |
T |
4: 129,355,405 (GRCm39) |
|
probably benign |
Het |
| Ccni |
T |
C |
5: 93,335,943 (GRCm39) |
H152R |
probably damaging |
Het |
| Cdk5 |
A |
G |
5: 24,625,284 (GRCm39) |
V208A |
possibly damaging |
Het |
| Cmtm5 |
G |
A |
14: 55,176,345 (GRCm39) |
D137N |
probably damaging |
Het |
| Cyp3a41b |
A |
G |
5: 145,521,448 (GRCm39) |
M1T |
probably null |
Het |
| Cyp3a44 |
A |
T |
5: 145,736,171 (GRCm39) |
V93E |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,478,309 (GRCm39) |
I241F |
probably benign |
Het |
| Dip2c |
A |
G |
13: 9,673,901 (GRCm39) |
T1114A |
probably damaging |
Het |
| Dsel |
T |
C |
1: 111,788,284 (GRCm39) |
I750M |
possibly damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,168,515 (GRCm39) |
K398E |
probably benign |
Het |
| Efcab12 |
G |
C |
6: 115,787,982 (GRCm39) |
T660S |
possibly damaging |
Het |
| Ep400 |
A |
G |
5: 110,831,864 (GRCm39) |
L2126P |
unknown |
Het |
| Ercc1 |
T |
A |
7: 19,081,062 (GRCm39) |
|
probably benign |
Het |
| Flnc |
G |
T |
6: 29,452,236 (GRCm39) |
D1687Y |
probably damaging |
Het |
| Frrs1 |
A |
T |
3: 116,696,070 (GRCm39) |
I530F |
possibly damaging |
Het |
| Gp5 |
G |
T |
16: 30,128,222 (GRCm39) |
L151I |
probably damaging |
Het |
| H2-Q5 |
A |
G |
17: 35,613,982 (GRCm39) |
D177G |
|
Het |
| Itgal |
A |
T |
7: 126,895,533 (GRCm39) |
|
probably benign |
Het |
| Klhl33 |
A |
T |
14: 51,129,882 (GRCm39) |
C277* |
probably null |
Het |
| Lefty1 |
T |
A |
1: 180,765,318 (GRCm39) |
C295* |
probably null |
Het |
| Lmo7 |
A |
T |
14: 102,137,679 (GRCm39) |
T794S |
probably benign |
Het |
| Mss51 |
A |
G |
14: 20,537,177 (GRCm39) |
M97T |
possibly damaging |
Het |
| Mtmr11 |
C |
T |
3: 96,072,188 (GRCm39) |
P262S |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,562,212 (GRCm39) |
N216I |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,549,972 (GRCm39) |
D5440E |
probably benign |
Het |
| Myt1l |
A |
G |
12: 29,960,800 (GRCm39) |
K1038E |
unknown |
Het |
| Naa15 |
G |
A |
3: 51,367,443 (GRCm39) |
V539M |
probably damaging |
Het |
| Or10al2 |
A |
T |
17: 37,983,702 (GRCm39) |
I263F |
probably benign |
Het |
| Or1e26 |
T |
C |
11: 73,480,076 (GRCm39) |
I163V |
probably benign |
Het |
| Or5ac20 |
G |
C |
16: 59,104,399 (GRCm39) |
L154V |
probably benign |
Het |
| Parpbp |
C |
T |
10: 87,947,474 (GRCm39) |
V387I |
probably benign |
Het |
| Pbxip1 |
T |
C |
3: 89,352,921 (GRCm39) |
I189T |
possibly damaging |
Het |
| Prkci |
T |
A |
3: 31,095,250 (GRCm39) |
Y111* |
probably null |
Het |
| Rab40c |
A |
C |
17: 26,102,664 (GRCm39) |
S262A |
probably benign |
Het |
| Rad51d |
A |
G |
11: 82,773,798 (GRCm39) |
L164P |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,093,106 (GRCm39) |
K513I |
probably damaging |
Het |
| Rubcn |
G |
T |
16: 32,646,049 (GRCm39) |
T828K |
probably damaging |
Het |
| Sdha |
G |
A |
13: 74,487,179 (GRCm39) |
T203M |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,217,562 (GRCm39) |
|
probably null |
Het |
| Spag8 |
T |
A |
4: 43,651,471 (GRCm39) |
T468S |
probably damaging |
Het |
| Spdl1 |
T |
C |
11: 34,704,478 (GRCm39) |
K452E |
possibly damaging |
Het |
| Stat5a |
T |
C |
11: 100,771,308 (GRCm39) |
F597S |
|
Het |
| Sult1b1 |
A |
C |
5: 87,662,893 (GRCm39) |
F269C |
probably damaging |
Het |
| Ubap1 |
A |
G |
4: 41,379,170 (GRCm39) |
N128S |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,627,604 (GRCm39) |
Q954* |
probably null |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,768 (GRCm39) |
M1K |
probably null |
Het |
| Wdfy1 |
A |
G |
1: 79,684,017 (GRCm39) |
S373P |
probably benign |
Het |
|
| Other mutations in Prkd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Prkd2
|
APN |
7 |
16,599,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01138:Prkd2
|
APN |
7 |
16,582,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01714:Prkd2
|
APN |
7 |
16,597,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01968:Prkd2
|
APN |
7 |
16,603,501 (GRCm39) |
splice site |
probably null |
|
|
IGL01969:Prkd2
|
APN |
7 |
16,599,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02354:Prkd2
|
APN |
7 |
16,581,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02361:Prkd2
|
APN |
7 |
16,581,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02504:Prkd2
|
APN |
7 |
16,591,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02804:Prkd2
|
APN |
7 |
16,589,815 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02834:Prkd2
|
APN |
7 |
16,579,859 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02962:Prkd2
|
APN |
7 |
16,603,757 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03053:Prkd2
|
APN |
7 |
16,584,188 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03168:Prkd2
|
APN |
7 |
16,584,188 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
alila
|
UTSW |
7 |
16,581,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Beaches
|
UTSW |
7 |
16,583,128 (GRCm39) |
nonsense |
probably null |
|
|
Purnama
|
UTSW |
7 |
16,603,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Sandals
|
UTSW |
7 |
16,599,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0024:Prkd2
|
UTSW |
7 |
16,581,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0173:Prkd2
|
UTSW |
7 |
16,582,969 (GRCm39) |
missense |
probably benign |
|
|
R0190:Prkd2
|
UTSW |
7 |
16,603,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0834:Prkd2
|
UTSW |
7 |
16,599,602 (GRCm39) |
splice site |
probably benign |
|
|
R1418:Prkd2
|
UTSW |
7 |
16,603,470 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1488:Prkd2
|
UTSW |
7 |
16,592,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Prkd2
|
UTSW |
7 |
16,591,732 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2015:Prkd2
|
UTSW |
7 |
16,581,602 (GRCm39) |
nonsense |
probably null |
|
|
R2042:Prkd2
|
UTSW |
7 |
16,590,193 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2101:Prkd2
|
UTSW |
7 |
16,603,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3884:Prkd2
|
UTSW |
7 |
16,587,180 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4601:Prkd2
|
UTSW |
7 |
16,577,573 (GRCm39) |
unclassified |
probably benign |
|
|
R4979:Prkd2
|
UTSW |
7 |
16,582,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Prkd2
|
UTSW |
7 |
16,589,711 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5643:Prkd2
|
UTSW |
7 |
16,577,717 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5994:Prkd2
|
UTSW |
7 |
16,584,261 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6033:Prkd2
|
UTSW |
7 |
16,599,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Prkd2
|
UTSW |
7 |
16,599,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6361:Prkd2
|
UTSW |
7 |
16,581,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6738:Prkd2
|
UTSW |
7 |
16,599,830 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R6798:Prkd2
|
UTSW |
7 |
16,583,128 (GRCm39) |
nonsense |
probably null |
|
|
R6815:Prkd2
|
UTSW |
7 |
16,577,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7241:Prkd2
|
UTSW |
7 |
16,591,730 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7293:Prkd2
|
UTSW |
7 |
16,579,865 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7323:Prkd2
|
UTSW |
7 |
16,581,547 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7900:Prkd2
|
UTSW |
7 |
16,587,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7943:Prkd2
|
UTSW |
7 |
16,584,244 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8723:Prkd2
|
UTSW |
7 |
16,591,702 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8729:Prkd2
|
UTSW |
7 |
16,583,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9111:Prkd2
|
UTSW |
7 |
16,584,131 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9222:Prkd2
|
UTSW |
7 |
16,577,699 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9466:Prkd2
|
UTSW |
7 |
16,589,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9564:Prkd2
|
UTSW |
7 |
16,591,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
X0062:Prkd2
|
UTSW |
7 |
16,589,716 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGAGACGTCTTCATACCGGG -3'
(R):5'- AGATGAGATGTGGCTCCAGG -3'
Sequencing Primer
(F):5'- CCGCTAGTGAGTGACAAATCCTG -3'
(R):5'- ATGTGGCTCCAGGGGCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation