Incidental Mutation 'R6738:Prkd2'
ID |
530305 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkd2
|
Ensembl Gene |
ENSMUSG00000041187 |
Gene Name |
protein kinase D2 |
Synonyms |
PKD2 |
MMRRC Submission |
044856-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6738 (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 A
at 16599830 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 764
(N764K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131192
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086104]
[ENSMUST00000168093]
|
AlphaFold |
Q8BZ03 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086104
AA Change: N764K
PolyPhen 2
Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000083273 Gene: ENSMUSG00000041187 AA Change: N764K
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 |
possibly damaging
Transcript: ENSMUST00000168093
AA Change: N764K
PolyPhen 2
Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000131192 Gene: ENSMUSG00000041187 AA Change: N764K
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 |
noncoding transcript
Transcript: ENSMUST00000205798
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206510
|
Meta Mutation Damage Score |
0.4238 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
100% (55/55) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
C |
T |
16: 8,420,300 (GRCm39) |
|
probably benign |
Het |
Abl1 |
T |
C |
2: 31,684,586 (GRCm39) |
Y454H |
probably damaging |
Het |
Ambp |
A |
T |
4: 63,067,711 (GRCm39) |
D166E |
probably benign |
Het |
Amigo2 |
A |
G |
15: 97,143,345 (GRCm39) |
V359A |
possibly damaging |
Het |
Ankrd11 |
A |
T |
8: 123,618,660 (GRCm39) |
S1710T |
probably damaging |
Het |
Ankrd31 |
T |
C |
13: 97,040,635 (GRCm39) |
S1713P |
possibly damaging |
Het |
Arhgap45 |
A |
T |
10: 79,863,431 (GRCm39) |
K758M |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,199,515 (GRCm39) |
I304T |
possibly damaging |
Het |
C1ra |
A |
G |
6: 124,494,718 (GRCm39) |
Y327C |
probably damaging |
Het |
Ccdc73 |
C |
T |
2: 104,822,433 (GRCm39) |
S794L |
probably benign |
Het |
Cd24a |
A |
G |
10: 43,458,672 (GRCm39) |
N48D |
possibly damaging |
Het |
Col11a1 |
A |
G |
3: 113,906,116 (GRCm39) |
|
probably benign |
Het |
Cyp11b2 |
G |
A |
15: 74,725,363 (GRCm39) |
T252I |
possibly damaging |
Het |
Dlx2 |
A |
G |
2: 71,376,406 (GRCm39) |
Y111H |
probably benign |
Het |
Dsp |
T |
C |
13: 38,376,186 (GRCm39) |
S1324P |
possibly damaging |
Het |
Esyt3 |
A |
T |
9: 99,202,346 (GRCm39) |
F522I |
probably damaging |
Het |
Fam193b |
C |
T |
13: 55,698,174 (GRCm39) |
A45T |
probably benign |
Het |
Flnb |
A |
G |
14: 7,904,536 (GRCm38) |
T980A |
probably benign |
Het |
Gabrb2 |
G |
T |
11: 42,484,758 (GRCm39) |
A272S |
possibly damaging |
Het |
H2al2a |
G |
T |
2: 18,001,429 (GRCm39) |
Q86K |
possibly damaging |
Het |
Ikbkb |
T |
G |
8: 23,165,052 (GRCm39) |
I243L |
probably damaging |
Het |
Il18r1 |
A |
G |
1: 40,537,816 (GRCm39) |
E527G |
probably benign |
Het |
Krt35 |
A |
T |
11: 99,984,535 (GRCm39) |
V320D |
probably damaging |
Het |
Krt76 |
C |
T |
15: 101,795,913 (GRCm39) |
R419H |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,288,832 (GRCm39) |
Y3678F |
probably damaging |
Het |
Mab21l4 |
G |
A |
1: 93,087,707 (GRCm39) |
L49F |
probably benign |
Het |
Mnat1 |
T |
G |
12: 73,319,246 (GRCm39) |
S290A |
probably benign |
Het |
Mptx2 |
T |
C |
1: 173,102,422 (GRCm39) |
E89G |
probably benign |
Het |
Myom1 |
T |
A |
17: 71,407,393 (GRCm39) |
|
probably null |
Het |
Naaladl2 |
A |
G |
3: 24,225,806 (GRCm39) |
V541A |
probably benign |
Het |
Nbeal2 |
T |
C |
9: 110,465,973 (GRCm39) |
T851A |
possibly damaging |
Het |
Ncoa4 |
A |
G |
14: 31,892,750 (GRCm39) |
Y11C |
probably benign |
Het |
Ntn5 |
T |
A |
7: 45,343,780 (GRCm39) |
|
probably null |
Het |
Or10d4c |
A |
G |
9: 39,557,957 (GRCm39) |
|
probably benign |
Het |
Or1j18 |
C |
T |
2: 36,624,444 (GRCm39) |
T37I |
probably benign |
Het |
Otop2 |
A |
G |
11: 115,220,318 (GRCm39) |
Y386C |
probably damaging |
Het |
Ppp2r1a |
T |
A |
17: 21,174,979 (GRCm39) |
|
probably null |
Het |
Ralgapa1 |
A |
G |
12: 55,809,512 (GRCm39) |
L421S |
probably damaging |
Het |
Ric3 |
G |
A |
7: 108,647,269 (GRCm39) |
R184* |
probably null |
Het |
Sfswap |
A |
G |
5: 129,618,505 (GRCm39) |
K480E |
probably damaging |
Het |
Siah2 |
A |
G |
3: 58,598,974 (GRCm39) |
V88A |
probably benign |
Het |
Slc22a16 |
T |
C |
10: 40,461,298 (GRCm39) |
F367L |
probably damaging |
Het |
Slc23a2 |
T |
C |
2: 131,920,356 (GRCm39) |
D183G |
probably benign |
Het |
Svep1 |
T |
C |
4: 58,123,180 (GRCm39) |
N712S |
possibly damaging |
Het |
Tex21 |
A |
G |
12: 76,286,283 (GRCm39) |
V72A |
probably benign |
Het |
Tfap4 |
A |
G |
16: 4,367,311 (GRCm39) |
Y184H |
probably damaging |
Het |
Timeless |
T |
C |
10: 128,076,504 (GRCm39) |
Y138H |
probably damaging |
Het |
Tln2 |
A |
T |
9: 67,293,946 (GRCm39) |
N227K |
possibly damaging |
Het |
Trip10 |
C |
T |
17: 57,563,899 (GRCm39) |
P342S |
probably benign |
Het |
Ttc6 |
A |
T |
12: 57,735,426 (GRCm39) |
E1156V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,728,472 (GRCm39) |
|
probably benign |
Het |
Vmn2r109 |
G |
A |
17: 20,774,785 (GRCm39) |
S190L |
possibly damaging |
Het |
Wdr54 |
A |
G |
6: 83,132,109 (GRCm39) |
S99P |
probably damaging |
Het |
Ythdf2 |
A |
C |
4: 131,932,272 (GRCm39) |
I296R |
probably benign |
Het |
Zfp445 |
A |
G |
9: 122,691,123 (GRCm39) |
V24A |
probably damaging |
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 |
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 |
R8923:Prkd2
|
UTSW |
7 |
16,599,682 (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'- AAGCTCTGTGACTTTGGCTTC -3'
(R):5'- CCTTACAGCCTCACCTACTAGG -3'
Sequencing Primer
(F):5'- ATCATCGGCGAGAAGTCCTTC -3'
(R):5'- GTCCCCACACTTACTAATCC -3'
|
Posted On |
2018-08-01 |