Incidental Mutation 'R0457:Prkd1'
ID |
41240 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkd1
|
Ensembl Gene |
ENSMUSG00000002688 |
Gene Name |
protein kinase D1 |
Synonyms |
PKD1, Prkcm, Pkcm |
MMRRC Submission |
038657-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0457 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 50413155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 672
(M672K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
AlphaFold |
Q62101 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002765
AA Change: M672K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002765 Gene: ENSMUSG00000002688 AA Change: M672K
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: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm1 |
A |
G |
3: 59,844,054 (GRCm39) |
I249M |
possibly damaging |
Het |
Adcy5 |
T |
C |
16: 35,094,915 (GRCm39) |
S691P |
probably benign |
Het |
Ajm1 |
G |
T |
2: 25,468,358 (GRCm39) |
R518S |
possibly damaging |
Het |
Aspscr1 |
A |
G |
11: 120,568,444 (GRCm39) |
E12G |
probably benign |
Het |
Atp2a2 |
T |
C |
5: 122,607,777 (GRCm39) |
Q244R |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,959,023 (GRCm39) |
M3818V |
probably benign |
Het |
Birc6 |
C |
T |
17: 74,969,620 (GRCm39) |
A4230V |
probably damaging |
Het |
Bub1b |
T |
C |
2: 118,440,340 (GRCm39) |
F148S |
probably damaging |
Het |
C1ra |
T |
C |
6: 124,499,712 (GRCm39) |
S633P |
probably benign |
Het |
Cacna2d1 |
A |
G |
5: 16,472,414 (GRCm39) |
T274A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,095 (GRCm39) |
W998R |
possibly damaging |
Het |
Crbn |
T |
C |
6: 106,758,018 (GRCm39) |
K404R |
probably benign |
Het |
Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
Csmd1 |
C |
A |
8: 16,551,407 (GRCm39) |
|
probably null |
Het |
Defa-ps1 |
A |
T |
8: 22,185,758 (GRCm39) |
|
noncoding transcript |
Het |
Dnajc10 |
T |
A |
2: 80,175,290 (GRCm39) |
V559D |
possibly damaging |
Het |
Dock1 |
A |
T |
7: 134,739,874 (GRCm39) |
E1423D |
possibly damaging |
Het |
Dpf3 |
A |
T |
12: 83,319,179 (GRCm39) |
S44T |
probably damaging |
Het |
Dyrk3 |
A |
T |
1: 131,064,094 (GRCm39) |
V31D |
possibly damaging |
Het |
F5 |
T |
C |
1: 164,021,769 (GRCm39) |
S1415P |
probably benign |
Het |
Fam186b |
A |
C |
15: 99,169,166 (GRCm39) |
I927S |
probably benign |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Fer1l6 |
G |
A |
15: 58,509,943 (GRCm39) |
|
probably null |
Het |
Fndc7 |
G |
T |
3: 108,783,861 (GRCm39) |
S249R |
probably benign |
Het |
Ganab |
A |
G |
19: 8,884,614 (GRCm39) |
E139G |
possibly damaging |
Het |
Gbp5 |
A |
G |
3: 142,213,518 (GRCm39) |
D478G |
probably damaging |
Het |
Gm17324 |
T |
A |
9: 78,355,580 (GRCm39) |
M1K |
probably null |
Het |
Gtpbp6 |
T |
A |
5: 110,254,608 (GRCm39) |
R126S |
probably damaging |
Het |
Hapln4 |
G |
A |
8: 70,541,122 (GRCm39) |
W385* |
probably null |
Het |
Hmcn2 |
T |
A |
2: 31,305,296 (GRCm39) |
|
probably null |
Het |
Hsp90ab1 |
A |
G |
17: 45,879,914 (GRCm39) |
V534A |
probably damaging |
Het |
Kat6b |
C |
A |
14: 21,720,598 (GRCm39) |
T1650K |
probably damaging |
Het |
Kpna1 |
T |
A |
16: 35,823,275 (GRCm39) |
D42E |
probably benign |
Het |
Lrrc14b |
A |
G |
13: 74,509,279 (GRCm39) |
M376T |
probably benign |
Het |
Lrrc40 |
A |
G |
3: 157,760,201 (GRCm39) |
|
probably null |
Het |
Ltv1 |
T |
C |
10: 13,067,887 (GRCm39) |
T34A |
probably benign |
Het |
Mga |
T |
A |
2: 119,746,969 (GRCm39) |
N373K |
probably damaging |
Het |
Msh3 |
A |
T |
13: 92,357,505 (GRCm39) |
M101K |
probably damaging |
Het |
Mthfd2l |
T |
C |
5: 91,168,065 (GRCm39) |
M320T |
possibly damaging |
Het |
Mug1 |
G |
A |
6: 121,838,514 (GRCm39) |
E506K |
probably benign |
Het |
Ngb |
T |
C |
12: 87,147,503 (GRCm39) |
D54G |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,699,014 (GRCm39) |
F84L |
probably benign |
Het |
Or1j18 |
A |
T |
2: 36,624,545 (GRCm39) |
I71F |
probably benign |
Het |
Or52n2b |
T |
A |
7: 104,566,180 (GRCm39) |
T108S |
probably benign |
Het |
Phf12 |
T |
A |
11: 77,908,994 (GRCm39) |
I358N |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,061,801 (GRCm39) |
F2577S |
probably damaging |
Het |
Polr1c |
T |
A |
17: 46,558,689 (GRCm39) |
Y36F |
probably benign |
Het |
Prob1 |
T |
C |
18: 35,785,539 (GRCm39) |
Y905C |
probably damaging |
Het |
Ptpn23 |
T |
A |
9: 110,215,361 (GRCm39) |
H1433L |
possibly damaging |
Het |
Rnf11 |
A |
T |
4: 109,314,149 (GRCm39) |
L80Q |
probably damaging |
Het |
Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
Scgb2b7 |
A |
T |
7: 31,403,437 (GRCm39) |
C90S |
possibly damaging |
Het |
Slc4a9 |
T |
C |
18: 36,668,471 (GRCm39) |
L710P |
probably damaging |
Het |
Spire1 |
T |
A |
18: 67,685,670 (GRCm39) |
I35F |
probably damaging |
Het |
Sptbn2 |
T |
C |
19: 4,795,966 (GRCm39) |
V1715A |
possibly damaging |
Het |
St7 |
T |
C |
6: 17,819,281 (GRCm39) |
F62L |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,118,136 (GRCm39) |
G862D |
probably damaging |
Het |
Syne1 |
A |
T |
10: 4,972,041 (GRCm39) |
M8789K |
probably damaging |
Het |
Synpo2 |
A |
G |
3: 122,906,421 (GRCm39) |
L965P |
probably damaging |
Het |
Trhde |
A |
T |
10: 114,284,167 (GRCm39) |
M772K |
probably benign |
Het |
Ttn |
T |
A |
2: 76,608,851 (GRCm39) |
K15976* |
probably null |
Het |
Unc13a |
A |
C |
8: 72,110,645 (GRCm39) |
|
probably null |
Het |
Vcan |
T |
C |
13: 89,851,318 (GRCm39) |
E1214G |
possibly damaging |
Het |
Vmn1r29 |
T |
C |
6: 58,285,072 (GRCm39) |
V264A |
probably benign |
Het |
Vmn1r60 |
T |
A |
7: 5,548,118 (GRCm39) |
|
probably benign |
Het |
Wdr90 |
C |
T |
17: 26,079,459 (GRCm39) |
R225H |
probably benign |
Het |
Wnk1 |
G |
A |
6: 119,946,293 (GRCm39) |
T620I |
probably damaging |
Het |
Zan |
C |
T |
5: 137,405,968 (GRCm39) |
|
probably benign |
Het |
Zfp37 |
A |
T |
4: 62,109,902 (GRCm39) |
C387* |
probably null |
Het |
Zfp521 |
T |
C |
18: 13,977,897 (GRCm39) |
T839A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTATGCTGGACTCCGCATGAC -3'
(R):5'- GCAGATCCTGCTTGAGATGTCCC -3'
Sequencing Primer
(F):5'- AGATGATATACTTCACCCTTGCAGTC -3'
(R):5'- GCAATTCACCATGCTAGAACTTAG -3'
|
Posted On |
2013-05-23 |