Incidental Mutation 'R6063:Prkd1'
| ID |
483929 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6063 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50388826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 906
(R906G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
| AlphaFold |
Q62101 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002765
AA Change: R906G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: R906G
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
A |
17: 24,483,318 (GRCm39) |
R1713C |
unknown |
Het |
| Ano6 |
C |
T |
15: 95,846,298 (GRCm39) |
T512I |
probably damaging |
Het |
| Ap3s1 |
T |
C |
18: 46,887,505 (GRCm39) |
V46A |
probably benign |
Het |
| Art2a |
C |
A |
7: 101,204,413 (GRCm39) |
V42F |
probably damaging |
Het |
| Asph |
C |
T |
4: 9,531,960 (GRCm39) |
V386M |
probably benign |
Het |
| B4galnt4 |
T |
A |
7: 140,644,643 (GRCm39) |
D179E |
probably benign |
Het |
| Bbx |
T |
C |
16: 50,071,730 (GRCm39) |
I232V |
probably benign |
Het |
| C1ql2 |
A |
G |
1: 120,269,321 (GRCm39) |
I159V |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,612,496 (GRCm39) |
V223A |
possibly damaging |
Het |
| Cd2ap |
A |
T |
17: 43,136,802 (GRCm39) |
L277I |
probably benign |
Het |
| Cfap44 |
G |
A |
16: 44,250,255 (GRCm39) |
E778K |
probably benign |
Het |
| Chd3 |
A |
T |
11: 69,240,063 (GRCm39) |
D1626E |
probably benign |
Het |
| Crocc |
C |
T |
4: 140,769,032 (GRCm39) |
G505S |
probably benign |
Het |
| Crocc |
T |
A |
4: 140,773,851 (GRCm39) |
Q72L |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,834,156 (GRCm39) |
|
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,474,296 (GRCm39) |
S256T |
possibly damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,316,310 (GRCm39) |
V133A |
probably damaging |
Het |
| Fermt2 |
A |
T |
14: 45,697,338 (GRCm39) |
M671K |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,353,336 (GRCm39) |
L630F |
probably benign |
Het |
| Gon4l |
T |
C |
3: 88,807,306 (GRCm39) |
S1667P |
probably damaging |
Het |
| Greb1l |
A |
C |
18: 10,557,340 (GRCm39) |
K1780T |
probably damaging |
Het |
| H2-Q10 |
C |
T |
17: 35,781,026 (GRCm39) |
T8M |
probably benign |
Het |
| Hmcn2 |
A |
T |
2: 31,324,725 (GRCm39) |
T4215S |
probably benign |
Het |
| I0C0044D17Rik |
G |
A |
4: 98,708,576 (GRCm39) |
|
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,579,223 (GRCm39) |
F541L |
probably benign |
Het |
| Igkv6-17 |
C |
T |
6: 70,348,764 (GRCm39) |
A45V |
probably damaging |
Het |
| Intu |
G |
A |
3: 40,608,524 (GRCm39) |
A161T |
probably damaging |
Het |
| Kcnmb2 |
A |
G |
3: 32,233,141 (GRCm39) |
Y73C |
probably damaging |
Het |
| Lrit1 |
T |
C |
14: 36,776,945 (GRCm39) |
F22L |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,174,156 (GRCm39) |
C699* |
probably null |
Het |
| Lrrc8d |
A |
G |
5: 105,959,992 (GRCm39) |
D134G |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,645 (GRCm39) |
D1692G |
unknown |
Het |
| Met |
C |
T |
6: 17,491,967 (GRCm39) |
S243F |
probably damaging |
Het |
| Mlph |
C |
A |
1: 90,855,882 (GRCm39) |
H96Q |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,372,582 (GRCm39) |
V4088D |
probably damaging |
Het |
| Nampt |
T |
A |
12: 32,898,658 (GRCm39) |
S425T |
probably damaging |
Het |
| Nts |
G |
A |
10: 102,320,856 (GRCm39) |
H78Y |
probably benign |
Het |
| Nxf1 |
A |
G |
19: 8,745,151 (GRCm39) |
E467G |
possibly damaging |
Het |
| Olfml2a |
C |
A |
2: 38,841,155 (GRCm39) |
D230E |
probably benign |
Het |
| Or4b13 |
C |
A |
2: 90,082,771 (GRCm39) |
C187F |
probably benign |
Het |
| Or52n2c |
C |
T |
7: 104,574,599 (GRCm39) |
R124H |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,432,045 (GRCm39) |
|
probably null |
Het |
| Pde5a |
C |
A |
3: 122,618,574 (GRCm39) |
T629K |
probably benign |
Het |
| Plcb3 |
G |
T |
19: 6,940,202 (GRCm39) |
R462S |
possibly damaging |
Het |
| Pnpla6 |
T |
A |
8: 3,574,156 (GRCm39) |
M469K |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,386 (GRCm39) |
K318* |
probably null |
Het |
| Ptprh |
T |
A |
7: 4,576,361 (GRCm39) |
T300S |
possibly damaging |
Het |
| Rdh16f2 |
A |
G |
10: 127,712,743 (GRCm39) |
Y247C |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,028,781 (GRCm39) |
E735G |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,017,470 (GRCm39) |
P153S |
possibly damaging |
Het |
| Samd4b |
T |
A |
7: 28,123,056 (GRCm39) |
M1L |
possibly damaging |
Het |
| Septin12 |
T |
C |
16: 4,810,127 (GRCm39) |
E136G |
probably damaging |
Het |
| Shpk |
A |
T |
11: 73,104,270 (GRCm39) |
K140* |
probably null |
Het |
| Sidt1 |
G |
T |
16: 44,079,829 (GRCm39) |
F608L |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,347,842 (GRCm39) |
Y1300H |
probably benign |
Het |
| Slc22a28 |
G |
A |
19: 8,094,386 (GRCm39) |
P212S |
probably benign |
Het |
| Slc22a5 |
A |
T |
11: 53,758,359 (GRCm39) |
F480L |
possibly damaging |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc3a1 |
C |
T |
17: 85,335,951 (GRCm39) |
P31L |
probably benign |
Het |
| Slc4a7 |
T |
C |
14: 14,793,964 (GRCm38) |
V1074A |
possibly damaging |
Het |
| Snx2 |
C |
T |
18: 53,342,697 (GRCm39) |
Q254* |
probably null |
Het |
| Sox30 |
G |
A |
11: 45,882,769 (GRCm39) |
V600I |
probably benign |
Het |
| Svil |
T |
G |
18: 5,106,724 (GRCm39) |
V1855G |
probably damaging |
Het |
| Tdpoz9 |
A |
G |
3: 93,957,408 (GRCm39) |
F7L |
probably benign |
Het |
| Tdrd7 |
A |
G |
4: 46,005,486 (GRCm39) |
T431A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,054,544 (GRCm39) |
|
probably null |
Het |
| Tigar |
A |
G |
6: 127,068,164 (GRCm39) |
S85P |
probably benign |
Het |
| Tnr |
A |
C |
1: 159,740,254 (GRCm39) |
M1143L |
probably benign |
Het |
| Trio |
G |
T |
15: 27,891,465 (GRCm39) |
Q429K |
possibly damaging |
Het |
| Urb1 |
T |
C |
16: 90,585,985 (GRCm39) |
I452M |
probably benign |
Het |
| Uroc1 |
A |
T |
6: 90,324,910 (GRCm39) |
E461V |
probably benign |
Het |
| Vax1 |
C |
A |
19: 59,157,036 (GRCm39) |
R99L |
unknown |
Het |
| Xab2 |
A |
T |
8: 3,663,051 (GRCm39) |
I510N |
possibly damaging |
Het |
| Zbtb34 |
A |
T |
2: 33,301,842 (GRCm39) |
I233K |
possibly damaging |
Het |
| Zbtb47 |
A |
G |
9: 121,592,598 (GRCm39) |
E306G |
probably benign |
Het |
| Zfp27 |
A |
G |
7: 29,593,727 (GRCm39) |
F746S |
probably damaging |
Het |
| Zfp719 |
C |
T |
7: 43,239,050 (GRCm39) |
Q213* |
probably null |
Het |
| Zswim6 |
T |
C |
13: 107,865,112 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- ACAGTGCTAACAGTTTAACAGC -3'
(R):5'- ACGTCAAGTTGCAGTGATCTC -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation