Incidental Mutation 'IGL02086:Prkd1'
ID |
285478 |
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 # |
IGL02086
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 50434046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 566
(I566V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
AlphaFold |
Q62101 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002765
AA Change: I566V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000002765 Gene: ENSMUSG00000002688 AA Change: I566V
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930426L09Rik |
T |
C |
2: 19,003,623 (GRCm39) |
|
probably benign |
Het |
Abi3bp |
A |
G |
16: 56,462,930 (GRCm39) |
|
probably benign |
Het |
Asb4 |
T |
C |
6: 5,398,386 (GRCm39) |
I117T |
probably benign |
Het |
Birc6 |
T |
G |
17: 74,946,822 (GRCm39) |
L2847R |
probably damaging |
Het |
C2cd2 |
A |
G |
16: 97,691,208 (GRCm39) |
|
probably benign |
Het |
Ccdc77 |
C |
A |
6: 120,316,119 (GRCm39) |
C186F |
possibly damaging |
Het |
Cd300ld2 |
T |
A |
11: 114,903,384 (GRCm39) |
|
probably benign |
Het |
Cd55b |
A |
T |
1: 130,345,919 (GRCm39) |
D166E |
probably benign |
Het |
Cfap100 |
A |
G |
6: 90,390,954 (GRCm39) |
F8L |
probably damaging |
Het |
Col2a1 |
C |
T |
15: 97,884,618 (GRCm39) |
|
probably null |
Het |
Dbf4 |
A |
G |
5: 8,453,189 (GRCm39) |
I270T |
probably benign |
Het |
Dkk3 |
T |
C |
7: 111,748,236 (GRCm39) |
S123G |
probably benign |
Het |
Ep400 |
A |
G |
5: 110,824,809 (GRCm39) |
|
probably benign |
Het |
Fam184a |
A |
G |
10: 53,575,351 (GRCm39) |
I30T |
probably damaging |
Het |
Fam20a |
T |
C |
11: 109,564,239 (GRCm39) |
I505V |
probably benign |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Fcho1 |
T |
C |
8: 72,169,444 (GRCm39) |
E154G |
probably damaging |
Het |
Klhdc1 |
A |
G |
12: 69,329,958 (GRCm39) |
I362M |
probably benign |
Het |
Knl1 |
A |
T |
2: 118,931,255 (GRCm39) |
E1990D |
probably benign |
Het |
Lancl2 |
A |
G |
6: 57,711,024 (GRCm39) |
Y394C |
probably damaging |
Het |
Lgi2 |
G |
A |
5: 52,723,299 (GRCm39) |
S50F |
probably damaging |
Het |
Map2k7 |
A |
G |
8: 4,288,950 (GRCm39) |
E14G |
probably damaging |
Het |
Mga |
A |
G |
2: 119,754,517 (GRCm39) |
I1009V |
probably damaging |
Het |
Nat9 |
C |
A |
11: 115,074,234 (GRCm39) |
|
probably null |
Het |
Nek2 |
G |
A |
1: 191,563,401 (GRCm39) |
A422T |
probably benign |
Het |
Nfkbiz |
A |
T |
16: 55,636,034 (GRCm39) |
L509Q |
probably damaging |
Het |
Or56b2 |
A |
T |
7: 104,337,634 (GRCm39) |
R137S |
probably benign |
Het |
Pgap1 |
T |
A |
1: 54,587,147 (GRCm39) |
Q143L |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,392,217 (GRCm39) |
T1937I |
probably damaging |
Het |
Pou1f1 |
A |
G |
16: 65,326,784 (GRCm39) |
E128G |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 44,989,996 (GRCm39) |
|
probably benign |
Het |
Psd2 |
A |
G |
18: 36,138,959 (GRCm39) |
R528G |
probably damaging |
Het |
Ptprg |
G |
T |
14: 12,110,080 (GRCm38) |
E263* |
probably null |
Het |
Radil |
T |
C |
5: 142,529,576 (GRCm39) |
D40G |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,750,442 (GRCm39) |
Y1943F |
probably damaging |
Het |
Slc30a4 |
C |
T |
2: 122,543,947 (GRCm39) |
|
probably benign |
Het |
Slc31a1 |
A |
T |
4: 62,306,241 (GRCm39) |
T120S |
possibly damaging |
Het |
Snrpe |
A |
G |
1: 133,537,487 (GRCm39) |
|
probably benign |
Het |
Stx3 |
G |
T |
19: 11,796,046 (GRCm39) |
|
probably benign |
Het |
Thoc2l |
A |
G |
5: 104,666,867 (GRCm39) |
E463G |
possibly damaging |
Het |
Ufsp1 |
T |
A |
5: 137,293,178 (GRCm39) |
C43S |
probably damaging |
Het |
Vac14 |
T |
A |
8: 111,379,950 (GRCm39) |
M416K |
possibly damaging |
Het |
Vmn1r81 |
A |
C |
7: 11,993,792 (GRCm39) |
V272G |
possibly damaging |
Het |
Vmn2r107 |
T |
A |
17: 20,578,062 (GRCm39) |
I457K |
probably benign |
Het |
Vmn2r72 |
A |
T |
7: 85,387,374 (GRCm39) |
V730E |
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,995,433 (GRCm39) |
Y405C |
probably damaging |
Het |
Zcchc17 |
T |
C |
4: 130,210,440 (GRCm39) |
*242W |
probably null |
Het |
Zfp503 |
T |
C |
14: 22,037,354 (GRCm39) |
K83R |
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 |
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 |
2015-04-16 |