Incidental Mutation 'R7815:Prkd1'
| ID |
601481 |
| 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 # |
R7815 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 50472300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 204
(N204K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
| AlphaFold |
Q62101 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002765
AA Change: N204K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: N204K
| 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: 99.7%
- 20x: 99.1%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,818,866 (GRCm39) |
D1285G |
probably benign |
Het |
| Abcc9 |
A |
G |
6: 142,598,331 (GRCm39) |
V669A |
probably damaging |
Het |
| Ajap1 |
C |
A |
4: 153,517,288 (GRCm39) |
G18C |
probably damaging |
Het |
| Alms1 |
G |
T |
6: 85,592,340 (GRCm39) |
M397I |
probably benign |
Het |
| Ampd2 |
A |
T |
3: 107,982,247 (GRCm39) |
M794K |
probably benign |
Het |
| Ankrd35 |
A |
T |
3: 96,592,117 (GRCm39) |
Q801L |
probably damaging |
Het |
| Casz1 |
A |
T |
4: 149,013,762 (GRCm39) |
I109F |
possibly damaging |
Het |
| Ces5a |
G |
A |
8: 94,247,623 (GRCm39) |
S297F |
possibly damaging |
Het |
| Col7a1 |
A |
G |
9: 108,798,633 (GRCm39) |
D1762G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,375,446 (GRCm39) |
Y1077F |
probably benign |
Het |
| Eef2k |
A |
G |
7: 120,457,793 (GRCm39) |
N51D |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,081,885 (GRCm39) |
Y1050H |
probably damaging |
Het |
| Fpgt |
A |
T |
3: 154,792,289 (GRCm39) |
S579R |
probably benign |
Het |
| Gabra4 |
T |
A |
5: 71,815,152 (GRCm39) |
M1L |
possibly damaging |
Het |
| Galk2 |
G |
A |
2: 125,817,321 (GRCm39) |
S370N |
probably damaging |
Het |
| Gpr155 |
T |
A |
2: 73,192,904 (GRCm39) |
T516S |
probably benign |
Het |
| Homez |
T |
C |
14: 55,095,675 (GRCm39) |
N11S |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,239,775 (GRCm39) |
G494D |
probably damaging |
Het |
| Htr3b |
C |
T |
9: 48,856,833 (GRCm39) |
R215Q |
probably benign |
Het |
| Igfbp4 |
A |
G |
11: 98,932,654 (GRCm39) |
E111G |
probably benign |
Het |
| Igkv8-19 |
T |
C |
6: 70,318,420 (GRCm39) |
T5A |
probably benign |
Het |
| Insrr |
A |
G |
3: 87,716,002 (GRCm39) |
K566E |
probably damaging |
Het |
| Iqsec3 |
A |
G |
6: 121,450,317 (GRCm39) |
V69A |
probably benign |
Het |
| Kdm5d |
T |
C |
Y: 940,702 (GRCm39) |
V1071A |
probably damaging |
Het |
| Kif28 |
A |
G |
1: 179,563,548 (GRCm39) |
C143R |
probably damaging |
Het |
| Kpna6 |
T |
C |
4: 129,551,590 (GRCm39) |
M65V |
probably benign |
Het |
| L3mbtl3 |
T |
C |
10: 26,156,276 (GRCm39) |
S669G |
unknown |
Het |
| Man1a2 |
A |
T |
3: 100,563,495 (GRCm39) |
I50N |
probably damaging |
Het |
| Map3k11 |
A |
T |
19: 5,745,667 (GRCm39) |
M356L |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,566,414 (GRCm39) |
N677Y |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,528,674 (GRCm39) |
K1108M |
possibly damaging |
Het |
| Nav1 |
C |
T |
1: 135,512,377 (GRCm39) |
E228K |
possibly damaging |
Het |
| Ncapd3 |
G |
A |
9: 26,974,736 (GRCm39) |
W736* |
probably null |
Het |
| Nfkb1 |
T |
C |
3: 135,309,552 (GRCm39) |
D514G |
probably damaging |
Het |
| Nnt |
T |
A |
13: 119,494,111 (GRCm39) |
T657S |
possibly damaging |
Het |
| Or4k5 |
A |
G |
14: 50,386,253 (GRCm39) |
F26S |
probably benign |
Het |
| Or51b4 |
A |
G |
7: 103,530,992 (GRCm39) |
S153P |
probably benign |
Het |
| Oser1 |
A |
T |
2: 163,253,336 (GRCm39) |
S58T |
possibly damaging |
Het |
| Pcdha5 |
T |
A |
18: 37,094,556 (GRCm39) |
I355N |
possibly damaging |
Het |
| Pllp |
C |
G |
8: 95,402,804 (GRCm39) |
G99A |
probably damaging |
Het |
| Pram1 |
A |
G |
17: 33,861,106 (GRCm39) |
N509S |
probably benign |
Het |
| Prss23 |
G |
A |
7: 89,159,253 (GRCm39) |
P272L |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,055,824 (GRCm39) |
F1057L |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,719,702 (GRCm39) |
S777R |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Rfx3 |
A |
T |
19: 27,803,448 (GRCm39) |
M265K |
probably benign |
Het |
| S100a7a |
C |
A |
3: 90,565,119 (GRCm39) |
H105N |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,084,625 (GRCm39) |
D132G |
probably damaging |
Het |
| Sp7 |
T |
A |
15: 102,274,822 (GRCm39) |
|
probably benign |
Het |
| Tacstd2 |
A |
G |
6: 67,512,140 (GRCm39) |
F184S |
possibly damaging |
Het |
| Trdc |
C |
A |
14: 54,381,259 (GRCm39) |
|
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,974,486 (GRCm39) |
H232L |
probably benign |
Het |
| Trpc3 |
G |
T |
3: 36,709,294 (GRCm39) |
T394K |
probably benign |
Het |
| Tuba3b |
G |
A |
6: 145,566,847 (GRCm39) |
V363I |
possibly damaging |
Het |
| Tubb2a |
C |
A |
13: 34,258,962 (GRCm39) |
R276L |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,951,071 (GRCm39) |
L72* |
probably null |
Het |
| Vps13a |
A |
T |
19: 16,702,936 (GRCm39) |
D672E |
probably damaging |
Het |
| Wdr26 |
A |
G |
1: 181,036,638 (GRCm39) |
V166A |
probably benign |
Het |
| Wwox |
T |
C |
8: 115,438,776 (GRCm39) |
S281P |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,339,756 (GRCm39) |
G666R |
probably damaging |
Het |
| Zfp131 |
T |
C |
13: 120,237,516 (GRCm39) |
K247E |
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 |
|
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'- GACACAGTCATTAACACGGGG -3'
(R):5'- CCATGTTTAAATAAGGAACAGACTCAG -3'
Sequencing Primer
(F):5'- GGCTGTGTCTCCCTCCCAG -3'
(R):5'- AAAACACAGAGGGAAATTTGTATTTC -3'
|
| Posted On |
2019-12-03 |
Incidental Mutation