Incidental Mutation 'IGL01457:Prkd1'
ID |
84807 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Prkd1
|
Ensembl Gene |
ENSMUSG00000002688 |
Gene Name |
protein kinase D1 |
Synonyms |
PKD1, Prkcm, Pkcm |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01457
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 50439693 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 378
(L378*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
AlphaFold |
Q62101 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002765
AA Change: L378*
|
SMART Domains |
Protein: ENSMUSP00000002765 Gene: ENSMUSG00000002688 AA Change: L378*
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 |
|
Coding Region Coverage |
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,382,908 (GRCm39) |
Y1019F |
probably benign |
Het |
4930455H04Rik |
T |
G |
3: 116,762,200 (GRCm39) |
|
probably benign |
Het |
9830107B12Rik |
A |
T |
17: 48,439,193 (GRCm39) |
|
probably benign |
Het |
Abcc8 |
A |
G |
7: 45,784,917 (GRCm39) |
V737A |
possibly damaging |
Het |
Adamts20 |
T |
A |
15: 94,229,329 (GRCm39) |
Y930F |
probably damaging |
Het |
Alkbh8 |
T |
A |
9: 3,369,825 (GRCm39) |
F365I |
probably damaging |
Het |
App |
G |
A |
16: 84,900,127 (GRCm39) |
H108Y |
probably damaging |
Het |
Bfsp1 |
T |
C |
2: 143,669,564 (GRCm39) |
|
probably benign |
Het |
Bltp3b |
T |
C |
10: 89,641,624 (GRCm39) |
S932P |
probably benign |
Het |
Cabin1 |
T |
C |
10: 75,578,263 (GRCm39) |
N478S |
probably damaging |
Het |
Camsap3 |
G |
A |
8: 3,654,795 (GRCm39) |
V796I |
probably damaging |
Het |
Carns1 |
A |
T |
19: 4,216,498 (GRCm39) |
|
probably null |
Het |
Ccdc121 |
A |
T |
5: 31,644,771 (GRCm39) |
I175L |
probably benign |
Het |
Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
Cltc |
C |
T |
11: 86,593,074 (GRCm39) |
M1600I |
probably benign |
Het |
Cnot1 |
T |
A |
8: 96,467,637 (GRCm39) |
N1499Y |
probably damaging |
Het |
Crebbp |
T |
A |
16: 3,942,632 (GRCm39) |
I196L |
probably damaging |
Het |
Drc3 |
C |
A |
11: 60,249,475 (GRCm39) |
|
probably benign |
Het |
Fam161a |
T |
A |
11: 22,970,702 (GRCm39) |
Y234* |
probably null |
Het |
Il1r1 |
C |
A |
1: 40,352,330 (GRCm39) |
P500Q |
probably damaging |
Het |
Katnal1 |
G |
T |
5: 148,830,607 (GRCm39) |
|
probably benign |
Het |
Klhdc2 |
A |
G |
12: 69,343,827 (GRCm39) |
N20S |
probably benign |
Het |
Kmt2e |
A |
T |
5: 23,707,017 (GRCm39) |
T1527S |
possibly damaging |
Het |
Magi1 |
C |
T |
6: 93,724,205 (GRCm39) |
G270D |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,715,922 (GRCm39) |
S2035T |
possibly damaging |
Het |
Mki67 |
A |
T |
7: 135,301,275 (GRCm39) |
M1253K |
probably benign |
Het |
Myh7 |
T |
C |
14: 55,226,336 (GRCm39) |
M435V |
possibly damaging |
Het |
Myh8 |
A |
G |
11: 67,183,505 (GRCm39) |
I739V |
probably benign |
Het |
Npnt |
T |
C |
3: 132,591,743 (GRCm39) |
K430R |
probably damaging |
Het |
Nrdc |
A |
G |
4: 108,904,857 (GRCm39) |
N696S |
probably benign |
Het |
Oit3 |
T |
C |
10: 59,261,306 (GRCm39) |
|
probably benign |
Het |
Or51a10 |
A |
G |
7: 103,699,376 (GRCm39) |
Y62H |
probably damaging |
Het |
Or51s1 |
A |
G |
7: 102,558,926 (GRCm39) |
I40T |
possibly damaging |
Het |
Or5bw2 |
A |
G |
7: 6,573,211 (GRCm39) |
T74A |
probably benign |
Het |
Or5p6 |
A |
T |
7: 107,631,328 (GRCm39) |
I74K |
possibly damaging |
Het |
Pkd1 |
G |
A |
17: 24,813,795 (GRCm39) |
|
probably null |
Het |
Plat |
A |
G |
8: 23,266,844 (GRCm39) |
M279V |
probably benign |
Het |
Rasgef1a |
C |
T |
6: 118,061,506 (GRCm39) |
T157I |
probably benign |
Het |
Rbm22 |
A |
G |
18: 60,693,929 (GRCm39) |
N11S |
probably damaging |
Het |
Ros1 |
T |
C |
10: 51,922,426 (GRCm39) |
|
probably benign |
Het |
Sema6d |
T |
A |
2: 124,495,562 (GRCm39) |
F3Y |
unknown |
Het |
Sis |
T |
C |
3: 72,868,354 (GRCm39) |
D112G |
probably benign |
Het |
Slit1 |
C |
A |
19: 41,599,483 (GRCm39) |
G1023C |
probably damaging |
Het |
Spata31h1 |
C |
A |
10: 82,120,568 (GRCm39) |
K4147N |
probably damaging |
Het |
Sptb |
T |
C |
12: 76,659,329 (GRCm39) |
|
probably benign |
Het |
Sspo |
T |
C |
6: 48,475,277 (GRCm39) |
I4881T |
probably benign |
Het |
Supt6 |
C |
A |
11: 78,111,969 (GRCm39) |
D1038Y |
probably damaging |
Het |
Tbc1d2b |
A |
T |
9: 90,087,144 (GRCm39) |
L945Q |
probably damaging |
Het |
Tgfbr3 |
G |
T |
5: 107,297,764 (GRCm39) |
A212E |
probably damaging |
Het |
Tipin |
A |
G |
9: 64,211,690 (GRCm39) |
T259A |
probably benign |
Het |
Traip |
T |
C |
9: 107,847,671 (GRCm39) |
S365P |
probably benign |
Het |
Tst |
T |
C |
15: 78,283,967 (GRCm39) |
T287A |
probably benign |
Het |
Tube1 |
C |
T |
10: 39,021,718 (GRCm39) |
|
probably benign |
Het |
Vmn1r37 |
T |
A |
6: 66,708,393 (GRCm39) |
N6K |
probably damaging |
Het |
Vmn2r111 |
C |
A |
17: 22,790,966 (GRCm39) |
E111* |
probably null |
Het |
Vmn2r17 |
C |
T |
5: 109,600,898 (GRCm39) |
T732I |
probably benign |
Het |
Vmn2r69 |
A |
T |
7: 85,055,836 (GRCm39) |
D767E |
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 |
|
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 |
R1668: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 |
|
Posted On |
2013-11-11 |