Incidental Mutation 'R1668:Prkd1'
ID |
187393 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkd1
|
Ensembl Gene |
ENSMUSG00000002688 |
Gene Name |
protein kinase D1 |
Synonyms |
PKD1, Prkcm, Pkcm |
MMRRC Submission |
039704-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1668 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 50441709 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 277
(H277Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
AlphaFold |
Q62101 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002765
AA Change: H277Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000002765 Gene: ENSMUSG00000002688 AA Change: H277Y
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
46 |
N/A |
INTRINSIC |
C1
|
138 |
194 |
1.36e-12 |
SMART |
C1
|
277 |
326 |
5.95e-18 |
SMART |
PH
|
429 |
549 |
5.33e-9 |
SMART |
S_TKc
|
589 |
845 |
1.24e-92 |
SMART |
|
Meta Mutation Damage Score |
0.9727 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a serine/threonine protein kinase involved in many cellular processes, including Golgi body membrane integrity and transport, cell migration and differentiation, MAPK8/JNK1 and Ras pathway signaling, MAPK1/3 (ERK1/2) pathway signaling, cell survival, and regulation of cell shape and adhesion. [provided by RefSeq, Jan 2017] PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial embryonic lethality. Mice homozygous for a knock-in allele display partial embryonic and perinatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adra2c |
T |
C |
5: 35,437,641 (GRCm39) |
S138P |
probably damaging |
Het |
Appl1 |
A |
C |
14: 26,645,811 (GRCm39) |
S666R |
probably damaging |
Het |
Arhgap45 |
A |
G |
10: 79,864,584 (GRCm39) |
S879G |
possibly damaging |
Het |
Calcoco2 |
T |
C |
11: 95,993,563 (GRCm39) |
M140V |
probably benign |
Het |
Cap2 |
C |
A |
13: 46,768,799 (GRCm39) |
H147N |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,767,814 (GRCm39) |
H2437L |
probably damaging |
Het |
Col5a3 |
A |
G |
9: 20,682,392 (GRCm39) |
I1684T |
unknown |
Het |
Comp |
A |
T |
8: 70,831,607 (GRCm39) |
|
probably null |
Het |
Cyp2c50 |
A |
T |
19: 40,079,499 (GRCm39) |
M198L |
probably benign |
Het |
Dnaaf2 |
A |
G |
12: 69,243,465 (GRCm39) |
V532A |
probably benign |
Het |
Dnah10 |
A |
T |
5: 124,842,626 (GRCm39) |
Q1358L |
probably benign |
Het |
Dop1b |
T |
A |
16: 93,562,404 (GRCm39) |
S832T |
probably damaging |
Het |
Dus3l |
T |
G |
17: 57,073,912 (GRCm39) |
F162C |
possibly damaging |
Het |
Epb41l4a |
A |
G |
18: 34,054,962 (GRCm39) |
L42P |
probably damaging |
Het |
Ercc5 |
T |
A |
1: 44,206,193 (GRCm39) |
S369T |
probably benign |
Het |
Fbxl2 |
C |
T |
9: 113,818,214 (GRCm39) |
V211M |
probably benign |
Het |
Fermt3 |
A |
G |
19: 6,996,060 (GRCm39) |
V45A |
probably damaging |
Het |
Frs3 |
C |
A |
17: 48,014,147 (GRCm39) |
P280Q |
possibly damaging |
Het |
Fxn |
A |
G |
19: 24,239,377 (GRCm39) |
Y172H |
probably damaging |
Het |
Gabpa |
T |
C |
16: 84,643,069 (GRCm39) |
V122A |
probably damaging |
Het |
Gsta4 |
A |
G |
9: 78,111,570 (GRCm39) |
T66A |
probably benign |
Het |
Hsdl2 |
C |
T |
4: 59,612,697 (GRCm39) |
T296M |
probably damaging |
Het |
Kank4 |
T |
C |
4: 98,667,133 (GRCm39) |
N438S |
probably damaging |
Het |
Krt24 |
A |
G |
11: 99,175,444 (GRCm39) |
I197T |
probably benign |
Het |
Lct |
T |
C |
1: 128,215,459 (GRCm39) |
|
probably null |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Mc4r |
A |
G |
18: 66,992,480 (GRCm39) |
L211P |
probably damaging |
Het |
Mfsd4b5 |
T |
C |
10: 39,849,687 (GRCm39) |
T111A |
probably damaging |
Het |
Mgat5b |
T |
A |
11: 116,874,474 (GRCm39) |
N635K |
probably benign |
Het |
Mms19 |
A |
T |
19: 41,940,995 (GRCm39) |
M443K |
possibly damaging |
Het |
Morc2a |
G |
A |
11: 3,625,885 (GRCm39) |
V162M |
probably benign |
Het |
Mroh5 |
T |
C |
15: 73,659,754 (GRCm39) |
N359S |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,852,161 (GRCm39) |
I843V |
possibly damaging |
Het |
Nbeal2 |
T |
C |
9: 110,467,961 (GRCm39) |
D436G |
probably damaging |
Het |
Nbr1 |
A |
G |
11: 101,460,592 (GRCm39) |
D502G |
probably benign |
Het |
Ngfr |
C |
T |
11: 95,478,371 (GRCm39) |
G5D |
probably damaging |
Het |
Nlrc4 |
G |
A |
17: 74,752,901 (GRCm39) |
T494M |
probably damaging |
Het |
Notch3 |
T |
A |
17: 32,377,563 (GRCm39) |
H171L |
probably damaging |
Het |
Nsmaf |
A |
G |
4: 6,398,880 (GRCm39) |
L795P |
probably damaging |
Het |
Nup210 |
T |
C |
6: 91,005,787 (GRCm39) |
T616A |
possibly damaging |
Het |
Or10d5 |
C |
A |
9: 39,861,465 (GRCm39) |
V201L |
possibly damaging |
Het |
Or1j18 |
T |
A |
2: 36,625,204 (GRCm39) |
Y290* |
probably null |
Het |
Or5ak25 |
T |
A |
2: 85,269,220 (GRCm39) |
Y94F |
probably benign |
Het |
Or5b113 |
A |
C |
19: 13,342,234 (GRCm39) |
M81L |
probably benign |
Het |
Osbpl5 |
T |
C |
7: 143,262,776 (GRCm39) |
H192R |
probably damaging |
Het |
Parp2 |
G |
A |
14: 51,058,313 (GRCm39) |
R486Q |
probably benign |
Het |
Pcgf6 |
G |
A |
19: 47,028,544 (GRCm39) |
A286V |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,258,990 (GRCm39) |
T1133A |
probably damaging |
Het |
Plekha2 |
T |
C |
8: 25,562,070 (GRCm39) |
N48S |
probably damaging |
Het |
Pole |
T |
G |
5: 110,445,235 (GRCm39) |
S461A |
probably damaging |
Het |
Ppfibp2 |
T |
C |
7: 107,329,099 (GRCm39) |
L536P |
probably damaging |
Het |
Prkcz |
G |
T |
4: 155,374,208 (GRCm39) |
F69L |
probably damaging |
Het |
Rab23 |
A |
T |
1: 33,773,935 (GRCm39) |
K132* |
probably null |
Het |
Rbck1 |
T |
A |
2: 152,158,819 (GRCm39) |
S488C |
probably damaging |
Het |
Rbl1 |
T |
C |
2: 157,001,654 (GRCm39) |
Y878C |
probably damaging |
Het |
Rpn2 |
C |
T |
2: 157,136,075 (GRCm39) |
T161M |
possibly damaging |
Het |
Rufy4 |
G |
A |
1: 74,186,837 (GRCm39) |
V542I |
probably benign |
Het |
Serpinb3d |
A |
G |
1: 107,008,481 (GRCm39) |
V128A |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,624,434 (GRCm39) |
I365V |
possibly damaging |
Het |
Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,667,943 (GRCm39) |
V718A |
probably benign |
Het |
Susd4 |
A |
G |
1: 182,686,128 (GRCm39) |
H226R |
probably benign |
Het |
Tmem151b |
T |
C |
17: 45,856,831 (GRCm39) |
Y203C |
probably damaging |
Het |
Tmppe |
T |
C |
9: 114,233,968 (GRCm39) |
V89A |
possibly damaging |
Het |
Trappc6b |
A |
T |
12: 59,094,907 (GRCm39) |
|
probably null |
Het |
Ube4b |
A |
T |
4: 149,445,751 (GRCm39) |
M433K |
probably benign |
Het |
Vmn1r202 |
A |
T |
13: 22,685,540 (GRCm39) |
D292E |
possibly damaging |
Het |
Vmn1r22 |
A |
G |
6: 57,877,704 (GRCm39) |
M91T |
probably benign |
Het |
Vmn1r43 |
T |
C |
6: 89,846,683 (GRCm39) |
I268V |
probably benign |
Het |
Vmn1r49 |
T |
A |
6: 90,049,764 (GRCm39) |
R79S |
probably benign |
Het |
Vmn2r14 |
T |
A |
5: 109,366,913 (GRCm39) |
K436* |
probably null |
Het |
Wdr72 |
A |
G |
9: 74,117,444 (GRCm39) |
S719G |
probably damaging |
Het |
Zfp526 |
T |
C |
7: 24,924,967 (GRCm39) |
F409L |
probably benign |
Het |
Zfp804b |
A |
C |
5: 6,821,323 (GRCm39) |
L580R |
possibly damaging |
Het |
Zfp977 |
T |
C |
7: 42,230,070 (GRCm39) |
T152A |
probably benign |
Het |
Zyx |
T |
A |
6: 42,332,966 (GRCm39) |
V372E |
possibly damaging |
Het |
|
Other mutations in Prkd1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00497:Prkd1
|
APN |
12 |
50,430,264 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00727:Prkd1
|
APN |
12 |
50,411,444 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00772:Prkd1
|
APN |
12 |
50,430,199 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01092:Prkd1
|
APN |
12 |
50,430,298 (GRCm39) |
splice site |
probably benign |
|
IGL01457:Prkd1
|
APN |
12 |
50,439,693 (GRCm39) |
nonsense |
probably null |
|
IGL01538:Prkd1
|
APN |
12 |
50,388,925 (GRCm39) |
missense |
probably benign |
|
IGL01762:Prkd1
|
APN |
12 |
50,434,013 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01876:Prkd1
|
APN |
12 |
50,413,131 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01973:Prkd1
|
APN |
12 |
50,413,162 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02086:Prkd1
|
APN |
12 |
50,434,046 (GRCm39) |
missense |
probably benign |
|
IGL02293:Prkd1
|
APN |
12 |
50,536,761 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02454:Prkd1
|
APN |
12 |
50,411,456 (GRCm39) |
missense |
probably benign |
0.09 |
IGL03309:Prkd1
|
APN |
12 |
50,435,207 (GRCm39) |
missense |
probably damaging |
1.00 |
R0349:Prkd1
|
UTSW |
12 |
50,413,139 (GRCm39) |
missense |
probably damaging |
1.00 |
R0457:Prkd1
|
UTSW |
12 |
50,413,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R0627:Prkd1
|
UTSW |
12 |
50,536,824 (GRCm39) |
missense |
probably benign |
0.00 |
R0899:Prkd1
|
UTSW |
12 |
50,431,976 (GRCm39) |
missense |
probably damaging |
0.98 |
R1219:Prkd1
|
UTSW |
12 |
50,435,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R1495:Prkd1
|
UTSW |
12 |
50,413,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R1584:Prkd1
|
UTSW |
12 |
50,472,298 (GRCm39) |
missense |
probably damaging |
1.00 |
R1665:Prkd1
|
UTSW |
12 |
50,441,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R1666:Prkd1
|
UTSW |
12 |
50,441,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R1669:Prkd1
|
UTSW |
12 |
50,441,709 (GRCm39) |
missense |
probably damaging |
1.00 |
R1735:Prkd1
|
UTSW |
12 |
50,388,822 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1939:Prkd1
|
UTSW |
12 |
50,441,777 (GRCm39) |
missense |
probably benign |
0.00 |
R2143:Prkd1
|
UTSW |
12 |
50,536,694 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2145:Prkd1
|
UTSW |
12 |
50,536,694 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3404:Prkd1
|
UTSW |
12 |
50,695,687 (GRCm39) |
missense |
unknown |
|
R3801:Prkd1
|
UTSW |
12 |
50,430,205 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3818:Prkd1
|
UTSW |
12 |
50,466,667 (GRCm39) |
splice site |
probably benign |
|
R3906:Prkd1
|
UTSW |
12 |
50,435,209 (GRCm39) |
missense |
possibly damaging |
0.91 |
R3966:Prkd1
|
UTSW |
12 |
50,439,724 (GRCm39) |
missense |
probably benign |
0.44 |
R4179:Prkd1
|
UTSW |
12 |
50,413,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R4510:Prkd1
|
UTSW |
12 |
50,439,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4511:Prkd1
|
UTSW |
12 |
50,439,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4663:Prkd1
|
UTSW |
12 |
50,466,631 (GRCm39) |
splice site |
probably null |
|
R4896:Prkd1
|
UTSW |
12 |
50,436,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R5070:Prkd1
|
UTSW |
12 |
50,441,405 (GRCm39) |
nonsense |
probably null |
|
R5263:Prkd1
|
UTSW |
12 |
50,435,089 (GRCm39) |
missense |
probably damaging |
1.00 |
R5389:Prkd1
|
UTSW |
12 |
50,389,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R5395:Prkd1
|
UTSW |
12 |
50,438,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R5855:Prkd1
|
UTSW |
12 |
50,439,699 (GRCm39) |
missense |
probably benign |
0.03 |
R5967:Prkd1
|
UTSW |
12 |
50,411,333 (GRCm39) |
missense |
probably damaging |
0.99 |
R5973:Prkd1
|
UTSW |
12 |
50,435,038 (GRCm39) |
missense |
probably damaging |
0.99 |
R6052:Prkd1
|
UTSW |
12 |
50,413,083 (GRCm39) |
critical splice donor site |
probably null |
|
R6063:Prkd1
|
UTSW |
12 |
50,388,826 (GRCm39) |
missense |
probably benign |
0.02 |
R6309:Prkd1
|
UTSW |
12 |
50,441,443 (GRCm39) |
nonsense |
probably null |
|
R6518:Prkd1
|
UTSW |
12 |
50,472,278 (GRCm39) |
missense |
probably benign |
0.08 |
R6868:Prkd1
|
UTSW |
12 |
50,472,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R7256:Prkd1
|
UTSW |
12 |
50,435,125 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7346:Prkd1
|
UTSW |
12 |
50,695,617 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7815:Prkd1
|
UTSW |
12 |
50,472,300 (GRCm39) |
missense |
probably damaging |
1.00 |
R8290:Prkd1
|
UTSW |
12 |
50,388,799 (GRCm39) |
missense |
probably damaging |
1.00 |
R8397:Prkd1
|
UTSW |
12 |
50,439,675 (GRCm39) |
missense |
probably benign |
|
R8671:Prkd1
|
UTSW |
12 |
50,435,191 (GRCm39) |
missense |
probably benign |
0.00 |
R8805:Prkd1
|
UTSW |
12 |
50,435,156 (GRCm39) |
missense |
probably damaging |
0.99 |
R8805:Prkd1
|
UTSW |
12 |
50,435,155 (GRCm39) |
missense |
probably benign |
0.45 |
R8839:Prkd1
|
UTSW |
12 |
50,389,616 (GRCm39) |
intron |
probably benign |
|
R9005:Prkd1
|
UTSW |
12 |
50,430,185 (GRCm39) |
nonsense |
probably null |
|
R9273:Prkd1
|
UTSW |
12 |
50,472,232 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9281:Prkd1
|
UTSW |
12 |
50,536,758 (GRCm39) |
missense |
probably benign |
0.31 |
R9480:Prkd1
|
UTSW |
12 |
50,435,283 (GRCm39) |
missense |
probably benign |
0.19 |
R9497:Prkd1
|
UTSW |
12 |
50,438,107 (GRCm39) |
critical splice donor site |
probably null |
|
X0024:Prkd1
|
UTSW |
12 |
50,536,757 (GRCm39) |
missense |
probably benign |
0.31 |
X0062:Prkd1
|
UTSW |
12 |
50,441,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCAGCGTTTGTGACAGTTGAATC -3'
(R):5'- TCAAGTGTATGACACGCATTCACCC -3'
Sequencing Primer
(F):5'- TGTGACAGTTGAATCTGCAATC -3'
(R):5'- GTATGACACGCATTCACCCATTATG -3'
|
Posted On |
2014-05-09 |