Incidental Mutation 'R8290:Prkd1'
| ID |
638655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkd1
|
| Ensembl Gene |
ENSMUSG00000002688 |
| Gene Name |
protein kinase D1 |
| Synonyms |
PKD1, Prkcm, Pkcm |
| MMRRC Submission |
067712-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8290 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50388799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 915
(V915I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
| AlphaFold |
Q62101 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002765
AA Change: V915I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: V915I
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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 |
|---|
| Abcc12 |
A |
T |
8: 87,238,911 (GRCm39) |
Y1100N |
probably damaging |
Het |
| Abcf2 |
CAT |
CATAAT |
5: 24,781,589 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,630,002 (GRCm39) |
T3576A |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,185,948 (GRCm39) |
N8K |
probably damaging |
Het |
| Aftph |
A |
T |
11: 20,675,712 (GRCm39) |
H632Q |
probably benign |
Het |
| Arhgef11 |
A |
T |
3: 87,633,275 (GRCm39) |
I710F |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,338,153 (GRCm39) |
N341S |
possibly damaging |
Het |
| Ccsap |
T |
G |
8: 124,585,986 (GRCm39) |
D55A |
probably benign |
Het |
| Cdh17 |
A |
G |
4: 11,817,037 (GRCm39) |
N816S |
probably benign |
Het |
| Celf3 |
A |
G |
3: 94,386,489 (GRCm39) |
I26V |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Chek2 |
A |
G |
5: 111,008,766 (GRCm39) |
E299G |
possibly damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,793,719 (GRCm39) |
V312A |
possibly damaging |
Het |
| Cnn1 |
A |
G |
9: 22,012,447 (GRCm39) |
K25R |
probably benign |
Het |
| Cry1 |
A |
T |
10: 84,978,977 (GRCm39) |
Y516* |
probably null |
Het |
| Dcaf4 |
T |
C |
12: 83,588,333 (GRCm39) |
S498P |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,843,244 (GRCm39) |
V360A |
probably benign |
Het |
| Dnajc18 |
G |
A |
18: 35,816,324 (GRCm39) |
R205* |
probably null |
Het |
| Eif4a2 |
G |
T |
16: 22,927,372 (GRCm39) |
G22C |
probably damaging |
Het |
| Elmo2 |
A |
G |
2: 165,150,923 (GRCm39) |
I196T |
probably damaging |
Het |
| Epha3 |
A |
G |
16: 63,472,859 (GRCm39) |
I342T |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Etf1 |
G |
A |
18: 35,064,891 (GRCm39) |
P35L |
unknown |
Het |
| Etnk2 |
A |
C |
1: 133,307,127 (GRCm39) |
*386C |
probably null |
Het |
| Fgg |
A |
T |
3: 82,920,141 (GRCm39) |
I307F |
probably benign |
Het |
| Flg2 |
A |
G |
3: 93,110,069 (GRCm39) |
Q699R |
unknown |
Het |
| Foxp4 |
T |
A |
17: 48,191,778 (GRCm39) |
T120S |
unknown |
Het |
| Fzd1 |
A |
G |
5: 4,807,060 (GRCm39) |
V174A |
possibly damaging |
Het |
| Gad1 |
A |
C |
2: 70,404,610 (GRCm39) |
I167L |
probably benign |
Het |
| Gfm2 |
T |
A |
13: 97,282,171 (GRCm39) |
D55E |
probably benign |
Het |
| Grb14 |
G |
T |
2: 64,805,929 (GRCm39) |
A12E |
probably benign |
Het |
| Hnmt |
A |
C |
2: 23,893,896 (GRCm39) |
Y199* |
probably null |
Het |
| Kit |
A |
G |
5: 75,801,829 (GRCm39) |
I615V |
probably benign |
Het |
| Kpna6 |
A |
G |
4: 129,555,097 (GRCm39) |
|
probably null |
Het |
| Lpxn |
C |
T |
19: 12,810,052 (GRCm39) |
R275C |
probably damaging |
Het |
| Magi1 |
C |
T |
6: 94,260,066 (GRCm39) |
G80S |
probably damaging |
Het |
| Men1 |
A |
G |
19: 6,388,316 (GRCm39) |
I312V |
probably benign |
Het |
| Msx2 |
A |
G |
13: 53,622,528 (GRCm39) |
F161L |
probably damaging |
Het |
| Mtr |
T |
C |
13: 12,205,139 (GRCm39) |
D1107G |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,575,434 (GRCm39) |
M1397L |
probably benign |
Het |
| Mybpc3 |
A |
G |
2: 90,951,473 (GRCm39) |
N259S |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,196,178 (GRCm39) |
K1242R |
probably benign |
Het |
| Myoc |
T |
C |
1: 162,476,601 (GRCm39) |
V435A |
possibly damaging |
Het |
| Nbea |
G |
A |
3: 55,966,056 (GRCm39) |
Q469* |
probably null |
Het |
| Ndufa10 |
A |
C |
1: 92,390,869 (GRCm39) |
M227R |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,953,536 (GRCm39) |
D3831N |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,015,400 (GRCm39) |
E1024G |
probably damaging |
Het |
| Oma1 |
T |
C |
4: 103,176,671 (GRCm39) |
L145P |
probably damaging |
Het |
| Phf11 |
T |
C |
14: 59,485,418 (GRCm39) |
Y114C |
probably damaging |
Het |
| Phf12 |
C |
A |
11: 77,920,465 (GRCm39) |
N1000K |
probably benign |
Het |
| Plxnb1 |
G |
T |
9: 108,938,687 (GRCm39) |
A1350S |
probably benign |
Het |
| Prkra |
T |
A |
2: 76,463,982 (GRCm39) |
N227Y |
probably damaging |
Het |
| Prtg |
A |
T |
9: 72,798,077 (GRCm39) |
H681L |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,193 (GRCm39) |
K251R |
probably benign |
Het |
| Sema6b |
A |
T |
17: 56,431,803 (GRCm39) |
V620E |
possibly damaging |
Het |
| Senp7 |
T |
A |
16: 55,974,000 (GRCm39) |
L407* |
probably null |
Het |
| Sh3pxd2a |
A |
T |
19: 47,302,575 (GRCm39) |
L168Q |
probably damaging |
Het |
| Shtn1 |
A |
G |
19: 58,988,326 (GRCm39) |
L453P |
probably damaging |
Het |
| Slc26a6 |
G |
A |
9: 108,733,230 (GRCm39) |
R43H |
probably benign |
Het |
| Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
| Taf2 |
A |
G |
15: 54,926,416 (GRCm39) |
F178S |
probably damaging |
Het |
| Tcp10a |
G |
A |
17: 7,601,716 (GRCm39) |
E239K |
probably benign |
Het |
| Ubox5 |
A |
G |
2: 130,442,333 (GRCm39) |
V118A |
probably damaging |
Het |
| Unc13d |
C |
A |
11: 115,958,973 (GRCm39) |
L729F |
probably damaging |
Het |
| Vmn1r228 |
T |
C |
17: 20,996,724 (GRCm39) |
T265A |
probably benign |
Het |
| Vmn2r100 |
G |
A |
17: 19,751,612 (GRCm39) |
V615I |
probably damaging |
Het |
| Vmn2r60 |
T |
G |
7: 41,791,690 (GRCm39) |
C538G |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,524,291 (GRCm39) |
N95I |
probably damaging |
Het |
| Vsig2 |
A |
G |
9: 37,451,264 (GRCm39) |
N55S |
probably benign |
Het |
| Zfp472 |
A |
G |
17: 33,197,088 (GRCm39) |
T388A |
probably benign |
Het |
| Zfp853 |
G |
A |
5: 143,274,826 (GRCm39) |
Q214* |
probably null |
Het |
| Zfp949 |
A |
G |
9: 88,451,293 (GRCm39) |
R288G |
probably 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 |
|
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 |
|
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'- TGTCTTGGCAACTCAGATACATC -3'
(R):5'- GAACGTCAAGTTGCAGTGATC -3'
Sequencing Primer
(F):5'- TTGGCAACTCAGATACATCAACAGTG -3'
(R):5'- GAACGTCAAGTTGCAGTGATCTCTAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation