Incidental Mutation 'R4663:Prkd1'
ID |
353034 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkd1
|
Ensembl Gene |
ENSMUSG00000002688 |
Gene Name |
protein kinase D1 |
Synonyms |
PKD1, Prkcm, Pkcm |
MMRRC Submission |
041921-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4663 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
C to T
at 50466631 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
AlphaFold |
Q62101 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002765
|
SMART Domains |
Protein: ENSMUSP00000002765 Gene: ENSMUSG00000002688
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aqr |
A |
T |
2: 113,992,147 (GRCm39) |
Y76* |
probably null |
Het |
Armc5 |
C |
A |
7: 127,837,717 (GRCm39) |
A140E |
probably benign |
Het |
Auts2 |
T |
C |
5: 131,468,476 (GRCm39) |
H947R |
probably damaging |
Het |
Bag2 |
T |
C |
1: 33,786,074 (GRCm39) |
T83A |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bean1 |
A |
G |
8: 104,937,799 (GRCm39) |
Y126C |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,129,697 (GRCm39) |
E330G |
probably damaging |
Het |
Ccdc40 |
A |
G |
11: 119,122,332 (GRCm39) |
I45V |
probably benign |
Het |
Cd320 |
G |
A |
17: 34,067,152 (GRCm39) |
G214R |
probably null |
Het |
Ckm |
G |
A |
7: 19,153,419 (GRCm39) |
V237M |
probably damaging |
Het |
Cplane1 |
T |
C |
15: 8,247,939 (GRCm39) |
V1496A |
probably benign |
Het |
Cspg4 |
T |
C |
9: 56,793,960 (GRCm39) |
V565A |
possibly damaging |
Het |
Dnaaf10 |
T |
C |
11: 17,182,853 (GRCm39) |
V338A |
probably benign |
Het |
Eddm13 |
T |
G |
7: 6,261,624 (GRCm39) |
I35S |
possibly damaging |
Het |
Ephb6 |
A |
G |
6: 41,594,799 (GRCm39) |
Y638C |
probably damaging |
Het |
Fat2 |
G |
C |
11: 55,187,039 (GRCm39) |
S1269* |
probably null |
Het |
Fbxo3 |
T |
C |
2: 103,883,820 (GRCm39) |
V348A |
probably damaging |
Het |
Gas6 |
G |
A |
8: 13,520,254 (GRCm39) |
P478L |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,340,660 (GRCm39) |
S1670P |
probably damaging |
Het |
Hnrnpk |
C |
A |
13: 58,542,331 (GRCm39) |
R281L |
probably damaging |
Het |
Ifih1 |
C |
A |
2: 62,439,563 (GRCm39) |
C488F |
probably benign |
Het |
Ift172 |
T |
C |
5: 31,441,559 (GRCm39) |
K192E |
probably benign |
Het |
Ighv5-9 |
T |
A |
12: 113,625,440 (GRCm39) |
Q101L |
probably benign |
Het |
Igkv3-2 |
G |
T |
6: 70,675,863 (GRCm39) |
M57I |
probably benign |
Het |
Insyn2a |
A |
T |
7: 134,500,877 (GRCm39) |
Y409* |
probably null |
Het |
Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
L3mbtl3 |
T |
C |
10: 26,213,715 (GRCm39) |
Y237C |
unknown |
Het |
Lats1 |
G |
A |
10: 7,588,347 (GRCm39) |
C988Y |
probably damaging |
Het |
Lgals3 |
T |
A |
14: 47,619,079 (GRCm39) |
|
probably null |
Het |
Lrrc3b |
G |
T |
14: 15,358,220 (GRCm38) |
H129N |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 102,899,273 (GRCm39) |
H1656R |
possibly damaging |
Het |
Lypd6 |
T |
G |
2: 50,063,623 (GRCm39) |
Y43* |
probably null |
Het |
Mettl25b |
A |
G |
3: 87,835,055 (GRCm39) |
S82P |
probably damaging |
Het |
Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
Msi1 |
G |
A |
5: 115,588,334 (GRCm39) |
R284Q |
probably damaging |
Het |
Mybpc2 |
T |
C |
7: 44,155,066 (GRCm39) |
E947G |
probably damaging |
Het |
Nat14 |
T |
A |
7: 4,927,446 (GRCm39) |
L206Q |
probably damaging |
Het |
Nup88 |
A |
T |
11: 70,856,672 (GRCm39) |
|
probably null |
Het |
Or11g27 |
A |
T |
14: 50,771,061 (GRCm39) |
Y64F |
probably damaging |
Het |
Or4k15 |
A |
G |
14: 50,364,939 (GRCm39) |
R302G |
probably benign |
Het |
Or8g19 |
A |
T |
9: 39,056,145 (GRCm39) |
I250F |
probably damaging |
Het |
Pdcl |
T |
C |
2: 37,245,778 (GRCm39) |
E75G |
probably damaging |
Het |
Phf14 |
A |
G |
6: 11,953,421 (GRCm39) |
I387V |
possibly damaging |
Het |
Phf3 |
G |
A |
1: 30,860,296 (GRCm39) |
R845W |
probably damaging |
Het |
Pm20d1 |
T |
C |
1: 131,726,340 (GRCm39) |
I59T |
probably damaging |
Het |
Psmb2 |
T |
C |
4: 126,571,558 (GRCm39) |
L4P |
probably damaging |
Het |
Pttg1 |
T |
A |
11: 43,315,677 (GRCm39) |
K46* |
probably null |
Het |
Ryr2 |
T |
C |
13: 11,764,395 (GRCm39) |
H1401R |
possibly damaging |
Het |
Septin4 |
T |
A |
11: 87,458,429 (GRCm39) |
Y268N |
probably damaging |
Het |
Sh3d19 |
G |
A |
3: 86,030,570 (GRCm39) |
D696N |
probably benign |
Het |
Slc16a2 |
T |
C |
X: 102,751,585 (GRCm39) |
T274A |
probably benign |
Het |
Slc26a6 |
G |
A |
9: 108,735,106 (GRCm39) |
A335T |
probably damaging |
Het |
Slc49a3 |
T |
C |
5: 108,590,011 (GRCm39) |
M464V |
probably benign |
Het |
Slc6a5 |
C |
A |
7: 49,588,146 (GRCm39) |
Y493* |
probably null |
Het |
Slf1 |
A |
T |
13: 77,274,723 (GRCm39) |
S37R |
probably damaging |
Het |
Smoc1 |
G |
A |
12: 81,214,376 (GRCm39) |
G264S |
probably damaging |
Het |
Snapc4 |
T |
C |
2: 26,264,193 (GRCm39) |
E280G |
possibly damaging |
Het |
Snx25 |
G |
A |
8: 46,488,616 (GRCm39) |
T913M |
probably damaging |
Het |
Snx7 |
T |
C |
3: 117,594,528 (GRCm39) |
T408A |
probably benign |
Het |
Spdya |
T |
A |
17: 71,885,339 (GRCm39) |
S264R |
probably benign |
Het |
Spg11 |
A |
T |
2: 121,928,580 (GRCm39) |
|
probably null |
Het |
Suz12 |
T |
A |
11: 79,904,350 (GRCm39) |
L230Q |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,234,881 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
C |
A |
8: 48,689,005 (GRCm39) |
R2194L |
probably damaging |
Het |
Tmed8 |
T |
A |
12: 87,221,005 (GRCm39) |
I194F |
probably damaging |
Het |
Tmem79 |
T |
A |
3: 88,240,751 (GRCm39) |
T66S |
probably damaging |
Het |
Trappc1 |
T |
A |
11: 69,216,337 (GRCm39) |
S118T |
probably benign |
Het |
Ttn |
C |
T |
2: 76,569,225 (GRCm39) |
V27223I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,606,839 (GRCm39) |
T18024A |
probably damaging |
Het |
Vmn2r15 |
C |
T |
5: 109,441,940 (GRCm39) |
M164I |
probably benign |
Het |
Vmn2r53 |
T |
A |
7: 12,334,901 (GRCm39) |
Y253F |
probably benign |
Het |
Zfand6 |
C |
T |
7: 84,267,093 (GRCm39) |
R163H |
probably benign |
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 |
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 |
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'- GACAACTTGAGGATTATGGGAATTC -3'
(R):5'- GGTGTGTCCACAAAGCTGAC -3'
Sequencing Primer
(F):5'- TGAGGATTATGGGAATTCAAATAGTG -3'
(R):5'- GTGTCCACAAAGCTGACTAGTATAGC -3'
|
Posted On |
2015-10-08 |