Incidental Mutation 'IGL01538:Prkd1'
| ID |
90073 |
| 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 # |
IGL01538
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50388925 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 873
(S873P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
| AlphaFold |
Q62101 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002765
AA Change: S873P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: S873P
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533K18Rik |
A |
G |
10: 70,708,032 (GRCm39) |
|
noncoding transcript |
Het |
| Abca3 |
G |
T |
17: 24,595,447 (GRCm39) |
C328F |
possibly damaging |
Het |
| Aldh5a1 |
T |
C |
13: 25,102,495 (GRCm39) |
N323D |
possibly damaging |
Het |
| Atp5f1c |
T |
C |
2: 10,073,477 (GRCm39) |
Y32C |
probably damaging |
Het |
| Capn3 |
T |
G |
2: 120,332,667 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
C |
A |
8: 96,277,866 (GRCm39) |
D275E |
probably benign |
Het |
| Ccdc40 |
T |
A |
11: 119,133,545 (GRCm39) |
F562I |
possibly damaging |
Het |
| Ccn6 |
A |
G |
10: 39,034,306 (GRCm39) |
Y99H |
probably damaging |
Het |
| Cd96 |
T |
C |
16: 45,929,490 (GRCm39) |
T152A |
possibly damaging |
Het |
| Cdh20 |
T |
A |
1: 109,988,870 (GRCm39) |
D257E |
probably damaging |
Het |
| Cilp2 |
T |
C |
8: 70,333,854 (GRCm39) |
D1048G |
probably benign |
Het |
| Clrn2 |
T |
G |
5: 45,617,408 (GRCm39) |
L93R |
probably damaging |
Het |
| Crat |
C |
A |
2: 30,299,978 (GRCm39) |
G134V |
probably damaging |
Het |
| Dis3 |
A |
T |
14: 99,335,181 (GRCm39) |
N140K |
probably benign |
Het |
| Dmxl2 |
T |
A |
9: 54,352,660 (GRCm39) |
|
probably benign |
Het |
| Dus1l |
T |
A |
11: 120,683,905 (GRCm39) |
Q181L |
probably damaging |
Het |
| Ece1 |
A |
G |
4: 137,675,855 (GRCm39) |
T410A |
probably benign |
Het |
| Gcc1 |
T |
A |
6: 28,421,047 (GRCm39) |
H90L |
probably damaging |
Het |
| Gpr152 |
T |
A |
19: 4,192,951 (GRCm39) |
V164E |
probably damaging |
Het |
| Grik3 |
A |
C |
4: 125,587,829 (GRCm39) |
I650L |
possibly damaging |
Het |
| Gvin3 |
T |
C |
7: 106,201,744 (GRCm39) |
D500G |
probably damaging |
Het |
| Gzmm |
A |
T |
10: 79,530,896 (GRCm39) |
T233S |
probably benign |
Het |
| H2-Q4 |
T |
A |
17: 35,602,288 (GRCm39) |
V341D |
probably benign |
Het |
| Igsf21 |
A |
G |
4: 139,755,029 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
T |
C |
15: 98,758,538 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
T |
G |
5: 123,919,721 (GRCm39) |
V864G |
probably damaging |
Het |
| Lnx1 |
T |
C |
5: 74,780,816 (GRCm39) |
E235G |
possibly damaging |
Het |
| Man2b1 |
G |
T |
8: 85,824,059 (GRCm39) |
K985N |
probably benign |
Het |
| Map4k1 |
C |
A |
7: 28,701,044 (GRCm39) |
P670Q |
probably damaging |
Het |
| Mapk8ip1 |
C |
A |
2: 92,219,319 (GRCm39) |
|
probably null |
Het |
| Mettl16 |
T |
A |
11: 74,683,093 (GRCm39) |
Y178* |
probably null |
Het |
| Mrpl11 |
T |
A |
19: 5,013,449 (GRCm39) |
|
probably null |
Het |
| Nup85 |
T |
C |
11: 115,460,540 (GRCm39) |
S140P |
possibly damaging |
Het |
| Or14c44 |
T |
C |
7: 86,062,167 (GRCm39) |
L199P |
possibly damaging |
Het |
| Or1j20 |
T |
C |
2: 36,760,532 (GRCm39) |
|
probably benign |
Het |
| Or4k51 |
T |
A |
2: 111,585,350 (GRCm39) |
V252E |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,576,942 (GRCm39) |
V134A |
probably benign |
Het |
| Pcdhb2 |
T |
A |
18: 37,428,375 (GRCm39) |
L116* |
probably null |
Het |
| Pdcd7 |
C |
A |
9: 65,253,985 (GRCm39) |
R188S |
probably damaging |
Het |
| Pdk2 |
T |
C |
11: 94,918,111 (GRCm39) |
Y374C |
probably damaging |
Het |
| Ppp1r12a |
G |
T |
10: 108,069,882 (GRCm39) |
D224Y |
probably damaging |
Het |
| Ppp2r2d |
T |
A |
7: 138,478,364 (GRCm39) |
Y169N |
probably damaging |
Het |
| Prcp |
A |
C |
7: 92,559,421 (GRCm39) |
T162P |
probably benign |
Het |
| Ptpn2 |
T |
C |
18: 67,814,623 (GRCm39) |
T129A |
probably benign |
Het |
| Rtkn |
G |
A |
6: 83,123,042 (GRCm39) |
R68H |
probably damaging |
Het |
| Sall4 |
C |
T |
2: 168,597,776 (GRCm39) |
D355N |
probably damaging |
Het |
| Scn7a |
A |
G |
2: 66,534,196 (GRCm39) |
V493A |
probably benign |
Het |
| Sema4b |
G |
A |
7: 79,865,444 (GRCm39) |
A140T |
probably damaging |
Het |
| Shisa6 |
C |
A |
11: 66,108,654 (GRCm39) |
G408C |
possibly damaging |
Het |
| Slc7a9 |
G |
T |
7: 35,153,589 (GRCm39) |
V197F |
probably damaging |
Het |
| Spata2 |
A |
T |
2: 167,326,071 (GRCm39) |
D249E |
probably damaging |
Het |
| Stk36 |
T |
A |
1: 74,672,797 (GRCm39) |
V1013E |
probably benign |
Het |
| Tcp10a |
T |
C |
17: 7,610,899 (GRCm39) |
V336A |
probably damaging |
Het |
| Tfb2m |
A |
T |
1: 179,365,409 (GRCm39) |
V185D |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,937,396 (GRCm39) |
Y76F |
probably benign |
Het |
| Tph1 |
T |
C |
7: 46,303,177 (GRCm39) |
Y267C |
probably damaging |
Het |
| Trgv1 |
G |
A |
13: 19,520,740 (GRCm39) |
|
probably benign |
Het |
| Ube2d1 |
A |
G |
10: 71,091,656 (GRCm39) |
|
probably benign |
Het |
| Vmn2r12 |
C |
A |
5: 109,239,716 (GRCm39) |
R282S |
probably damaging |
Het |
| Vps4a |
A |
G |
8: 107,763,556 (GRCm39) |
D72G |
probably benign |
Het |
| Wipf2 |
T |
A |
11: 98,781,629 (GRCm39) |
V56D |
possibly damaging |
Het |
| Zfp750 |
C |
A |
11: 121,402,991 (GRCm39) |
V586L |
probably benign |
Het |
| Zfp831 |
A |
G |
2: 174,486,399 (GRCm39) |
E358G |
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 |
|
|
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 |
2013-12-03 |
Incidental Mutation