Incidental Mutation 'R8839:Prkd1'
| ID |
700861 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkd1
|
| Ensembl Gene |
ENSMUSG00000002688 |
| Gene Name |
protein kinase D1 |
| Synonyms |
PKD1, Prkcm, Pkcm |
| MMRRC Submission |
068667-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8839 (G1)
|
| Quality Score |
57.0073 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 50389616 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 benign
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (51/51) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,889,194 (GRCm39) |
Y475H |
probably damaging |
Het |
| Ankfy1 |
T |
C |
11: 72,621,392 (GRCm39) |
I226T |
probably benign |
Het |
| Anln |
G |
A |
9: 22,267,468 (GRCm39) |
S825L |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,974 (GRCm39) |
Y325H |
probably damaging |
Het |
| Arb2a |
A |
T |
13: 78,147,781 (GRCm39) |
H283L |
probably benign |
Het |
| B3galt4 |
A |
G |
17: 34,169,867 (GRCm39) |
S124P |
possibly damaging |
Het |
| Cabin1 |
T |
C |
10: 75,492,650 (GRCm39) |
I1882V |
probably benign |
Het |
| Caprin2 |
A |
T |
6: 148,774,525 (GRCm39) |
S262R |
probably benign |
Het |
| Csmd2 |
A |
C |
4: 128,336,681 (GRCm39) |
I1420L |
|
Het |
| Cyp2b9 |
T |
G |
7: 25,900,185 (GRCm39) |
V331G |
probably damaging |
Het |
| Cyp3a59 |
A |
T |
5: 146,045,896 (GRCm39) |
M433L |
probably benign |
Het |
| Edrf1 |
A |
G |
7: 133,255,644 (GRCm39) |
D597G |
probably benign |
Het |
| Emc3 |
G |
A |
6: 113,496,931 (GRCm39) |
R147C |
possibly damaging |
Het |
| Fkbp7 |
T |
C |
2: 76,497,581 (GRCm39) |
|
probably benign |
Het |
| Flii |
T |
C |
11: 60,609,433 (GRCm39) |
T665A |
possibly damaging |
Het |
| Fxr1 |
A |
G |
3: 34,100,831 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
T |
G |
6: 25,669,369 (GRCm39) |
I492L |
probably benign |
Het |
| Hmg20b |
A |
C |
10: 81,184,749 (GRCm39) |
W108G |
probably damaging |
Het |
| Ighv9-3 |
G |
A |
12: 114,104,385 (GRCm39) |
T93I |
possibly damaging |
Het |
| Inpp5a |
T |
C |
7: 138,969,349 (GRCm39) |
V15A |
probably benign |
Het |
| Inpp5d |
T |
A |
1: 87,619,433 (GRCm39) |
Y376N |
probably damaging |
Het |
| Ints6 |
A |
G |
14: 62,931,122 (GRCm39) |
F854L |
probably benign |
Het |
| Ipo7 |
A |
T |
7: 109,641,223 (GRCm39) |
K314N |
probably damaging |
Het |
| Ltn1 |
C |
A |
16: 87,215,390 (GRCm39) |
C415F |
probably damaging |
Het |
| Mfsd9 |
T |
C |
1: 40,813,554 (GRCm39) |
T254A |
probably benign |
Het |
| Musk |
A |
G |
4: 58,286,151 (GRCm39) |
T14A |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 27,005,730 (GRCm39) |
V1438A |
|
Het |
| Nnt |
A |
T |
13: 119,494,173 (GRCm39) |
V636D |
unknown |
Het |
| Or10ak14 |
A |
G |
4: 118,611,411 (GRCm39) |
L110P |
probably damaging |
Het |
| Or11h23 |
A |
T |
14: 50,947,957 (GRCm39) |
T57S |
possibly damaging |
Het |
| Or52ae9 |
A |
G |
7: 103,390,021 (GRCm39) |
I142T |
probably benign |
Het |
| Ost4 |
T |
C |
5: 31,064,935 (GRCm39) |
|
probably benign |
Het |
| Pdzph1 |
T |
C |
17: 59,257,237 (GRCm39) |
T934A |
probably benign |
Het |
| Plekhn1 |
T |
A |
4: 156,307,046 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
A |
T |
13: 63,689,038 (GRCm39) |
L413Q |
probably damaging |
Het |
| S100pbp |
A |
G |
4: 129,076,000 (GRCm39) |
|
probably null |
Het |
| Sec23a |
T |
C |
12: 59,037,781 (GRCm39) |
K361E |
possibly damaging |
Het |
| Sema3b |
C |
T |
9: 107,478,552 (GRCm39) |
|
probably benign |
Het |
| Serpina3g |
A |
G |
12: 104,204,038 (GRCm39) |
|
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,943,392 (GRCm39) |
|
silent |
Het |
| Smug1 |
T |
C |
15: 103,064,247 (GRCm39) |
R225G |
possibly damaging |
Het |
| Srbd1 |
T |
A |
17: 86,295,849 (GRCm39) |
I854L |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,047,474 (GRCm39) |
R417C |
probably damaging |
Het |
| Tiam1 |
A |
G |
16: 89,681,827 (GRCm39) |
Y384H |
probably damaging |
Het |
| Trappc9 |
T |
A |
15: 72,930,087 (GRCm39) |
K90* |
probably null |
Het |
| Tubgcp6 |
A |
T |
15: 88,987,681 (GRCm39) |
H1097Q |
possibly damaging |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,415 (GRCm39) |
L72P |
probably damaging |
Het |
| Vmn2r20 |
A |
T |
6: 123,373,515 (GRCm39) |
H442Q |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,595,489 (GRCm39) |
Y398* |
probably null |
Het |
| Zfhx4 |
A |
G |
3: 5,466,915 (GRCm39) |
T2383A |
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 |
|
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 |
|
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'- AGCTTCCAAATGAGACCAGC -3'
(R):5'- TGAGTCACCCTTGGCTACAG -3'
Sequencing Primer
(F):5'- CAAATGGGCAGATGGGCATCTATTG -3'
(R):5'- CCTTGGCTACAGGTAAAAATCATCTG -3'
|
| Posted On |
2022-02-11 |
Incidental Mutation