Incidental Mutation 'R1666:Prkd1'
| ID |
187217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkd1
|
| Ensembl Gene |
ENSMUSG00000002688 |
| Gene Name |
protein kinase D1 |
| Synonyms |
PKD1, Prkcm, Pkcm |
| MMRRC Submission |
039702-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1666 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 50441709 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 277
(H277Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
| AlphaFold |
Q62101 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002765
AA Change: H277Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: H277Y
| 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 |
|
| Meta Mutation Damage Score |
0.9727 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
G |
A |
15: 101,035,458 (GRCm39) |
R328H |
probably damaging |
Het |
| Afp |
T |
C |
5: 90,652,927 (GRCm39) |
S466P |
probably damaging |
Het |
| Arhgap45 |
A |
G |
10: 79,864,584 (GRCm39) |
S879G |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,597,006 (GRCm39) |
D556G |
probably damaging |
Het |
| Atp2a3 |
T |
A |
11: 72,869,633 (GRCm39) |
|
probably null |
Het |
| Brinp2 |
C |
A |
1: 158,074,128 (GRCm39) |
E664D |
probably damaging |
Het |
| Cap2 |
C |
A |
13: 46,768,799 (GRCm39) |
H147N |
probably damaging |
Het |
| Cd209f |
G |
A |
8: 4,154,862 (GRCm39) |
Q79* |
probably null |
Het |
| Chrna7 |
T |
C |
7: 62,861,890 (GRCm39) |
Y54C |
possibly damaging |
Het |
| Clec1a |
T |
C |
6: 129,413,967 (GRCm39) |
D40G |
probably benign |
Het |
| Col11a1 |
A |
G |
3: 113,855,184 (GRCm39) |
E148G |
unknown |
Het |
| Comp |
A |
T |
8: 70,831,607 (GRCm39) |
|
probably null |
Het |
| Cpz |
A |
G |
5: 35,665,460 (GRCm39) |
|
probably null |
Het |
| Cyfip1 |
T |
A |
7: 55,521,646 (GRCm39) |
N13K |
probably damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,079,499 (GRCm39) |
M198L |
probably benign |
Het |
| Deup1 |
A |
T |
9: 15,486,487 (GRCm39) |
Y398N |
possibly damaging |
Het |
| Elapor1 |
A |
G |
3: 108,377,313 (GRCm39) |
S434P |
probably benign |
Het |
| Epb41l4a |
A |
G |
18: 34,054,962 (GRCm39) |
L42P |
probably damaging |
Het |
| Exo1 |
T |
C |
1: 175,736,052 (GRCm39) |
I812T |
possibly damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,692,060 (GRCm39) |
|
probably null |
Het |
| Fxn |
A |
G |
19: 24,239,377 (GRCm39) |
Y172H |
probably damaging |
Het |
| Gabra6 |
A |
G |
11: 42,208,461 (GRCm39) |
S124P |
probably damaging |
Het |
| Gje1 |
C |
A |
10: 14,592,551 (GRCm39) |
W77L |
possibly damaging |
Het |
| Glra1 |
A |
G |
11: 55,465,225 (GRCm39) |
S23P |
probably damaging |
Het |
| Gm6811 |
T |
C |
17: 21,314,529 (GRCm39) |
|
noncoding transcript |
Het |
| Greb1l |
T |
A |
18: 10,501,080 (GRCm39) |
|
probably null |
Het |
| Greb1l |
T |
C |
18: 10,529,708 (GRCm39) |
|
probably null |
Het |
| Grm6 |
A |
T |
11: 50,750,711 (GRCm39) |
I625F |
probably damaging |
Het |
| Guca1a |
A |
G |
17: 47,711,167 (GRCm39) |
F60L |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,800,607 (GRCm39) |
E2070D |
possibly damaging |
Het |
| Itga5 |
G |
A |
15: 103,256,329 (GRCm39) |
T910I |
probably benign |
Het |
| Kctd10 |
A |
G |
5: 114,507,051 (GRCm39) |
V142A |
probably benign |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Lmtk3 |
A |
T |
7: 45,443,588 (GRCm39) |
D757V |
probably benign |
Het |
| Lpcat1 |
T |
C |
13: 73,658,242 (GRCm39) |
|
probably null |
Het |
| Lrrc30 |
A |
T |
17: 67,939,200 (GRCm39) |
C127S |
probably benign |
Het |
| Mc4r |
A |
G |
18: 66,992,480 (GRCm39) |
L211P |
probably damaging |
Het |
| Mgat5b |
T |
A |
11: 116,874,474 (GRCm39) |
N635K |
probably benign |
Het |
| Mms19 |
A |
T |
19: 41,940,995 (GRCm39) |
M443K |
possibly damaging |
Het |
| Mroh5 |
T |
C |
15: 73,659,754 (GRCm39) |
N359S |
probably benign |
Het |
| Nlrc4 |
G |
A |
17: 74,752,901 (GRCm39) |
T494M |
probably damaging |
Het |
| Ntf3 |
T |
C |
6: 126,079,401 (GRCm39) |
D35G |
possibly damaging |
Het |
| Or5g25 |
A |
T |
2: 85,478,157 (GRCm39) |
C169* |
probably null |
Het |
| Osbpl5 |
T |
C |
7: 143,262,776 (GRCm39) |
H192R |
probably damaging |
Het |
| Parp4 |
A |
T |
14: 56,861,620 (GRCm39) |
K984N |
possibly damaging |
Het |
| Pdgfra |
G |
A |
5: 75,349,681 (GRCm39) |
G892D |
possibly damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,612,634 (GRCm39) |
|
probably benign |
Het |
| Ppcdc |
T |
A |
9: 57,321,998 (GRCm39) |
M181L |
possibly damaging |
Het |
| Pramel7 |
G |
A |
2: 87,322,747 (GRCm39) |
P6S |
probably damaging |
Het |
| Prkcz |
G |
T |
4: 155,374,208 (GRCm39) |
F69L |
probably damaging |
Het |
| Ptgs2 |
A |
G |
1: 149,977,021 (GRCm39) |
Y44C |
probably damaging |
Het |
| Rbck1 |
T |
A |
2: 152,158,819 (GRCm39) |
S488C |
probably damaging |
Het |
| Rbl1 |
T |
C |
2: 157,001,654 (GRCm39) |
Y878C |
probably damaging |
Het |
| Rbm6 |
G |
A |
9: 107,669,055 (GRCm39) |
T619I |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,420,086 (GRCm39) |
I342T |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,075 (GRCm39) |
T161M |
possibly damaging |
Het |
| Rufy4 |
G |
A |
1: 74,186,837 (GRCm39) |
V542I |
probably benign |
Het |
| Sema5b |
C |
T |
16: 35,478,852 (GRCm39) |
P559S |
probably benign |
Het |
| Serpinb3d |
A |
G |
1: 107,008,481 (GRCm39) |
V128A |
probably benign |
Het |
| Slc35f3 |
T |
A |
8: 127,115,960 (GRCm39) |
S296T |
probably damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,927,775 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
A |
G |
19: 26,624,434 (GRCm39) |
I365V |
possibly damaging |
Het |
| Spdya |
T |
A |
17: 71,885,235 (GRCm39) |
C230S |
probably damaging |
Het |
| Sv2b |
G |
A |
7: 74,856,089 (GRCm39) |
A67V |
probably benign |
Het |
| Tapbpl |
A |
G |
6: 125,207,164 (GRCm39) |
V175A |
probably benign |
Het |
| Tmt1a3 |
A |
G |
15: 100,233,099 (GRCm39) |
I97V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,642,095 (GRCm39) |
T13373A |
probably damaging |
Het |
| Tubb5 |
A |
T |
17: 36,147,530 (GRCm39) |
N52K |
probably benign |
Het |
| Tyr |
T |
A |
7: 87,142,149 (GRCm39) |
Y137F |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,808,565 (GRCm39) |
I217N |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,540 (GRCm39) |
D292E |
possibly damaging |
Het |
| Vmn1r22 |
A |
G |
6: 57,877,704 (GRCm39) |
M91T |
probably benign |
Het |
| Washc2 |
T |
A |
6: 116,200,215 (GRCm39) |
|
probably null |
Het |
| Zfp566 |
A |
T |
7: 29,777,901 (GRCm39) |
H93Q |
probably benign |
Het |
| Zfp740 |
A |
G |
15: 102,116,753 (GRCm39) |
D56G |
probably damaging |
Het |
| Zfp804b |
A |
C |
5: 6,821,323 (GRCm39) |
L580R |
possibly damaging |
Het |
| Zmiz2 |
T |
G |
11: 6,346,836 (GRCm39) |
S148R |
probably benign |
Het |
| Zmym6 |
T |
A |
4: 127,016,652 (GRCm39) |
I719N |
probably damaging |
Het |
| Zyx |
T |
A |
6: 42,332,966 (GRCm39) |
V372E |
possibly 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 |
|
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'- AGATGGCGATGACTTCTTCCCTACC -3'
(R):5'- TCAAGTGTATGACACGCATTCACCC -3'
Sequencing Primer
(F):5'- ATTGATGGTCACTTCACCCAAG -3'
(R):5'- GTATGACACGCATTCACCCATTATG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation