Incidental Mutation 'R1495:Prkd1'
| ID |
168801 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkd1
|
| Ensembl Gene |
ENSMUSG00000002688 |
| Gene Name |
protein kinase D1 |
| Synonyms |
PKD1, Prkcm, Pkcm |
| MMRRC Submission |
039546-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1495 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
50388014-50695881 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50413135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 679
(S679G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
| AlphaFold |
Q62101 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002765
AA Change: S679G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: S679G
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,614,356 (GRCm39) |
N488S |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,593 (GRCm39) |
R383C |
probably damaging |
Het |
| Acsm2 |
A |
G |
7: 119,177,349 (GRCm39) |
D263G |
probably damaging |
Het |
| Adcy2 |
G |
T |
13: 68,944,654 (GRCm39) |
Q243K |
probably benign |
Het |
| Aggf1 |
G |
A |
13: 95,492,921 (GRCm39) |
R563* |
probably null |
Het |
| Agt |
A |
G |
8: 125,286,194 (GRCm39) |
F296S |
probably damaging |
Het |
| Akap14 |
T |
C |
X: 36,427,618 (GRCm39) |
D39G |
possibly damaging |
Het |
| Akt3 |
T |
C |
1: 176,930,608 (GRCm39) |
M117V |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,682,450 (GRCm39) |
T1154A |
probably benign |
Het |
| Arvcf |
T |
A |
16: 18,207,251 (GRCm39) |
L70Q |
probably damaging |
Het |
| Ccdc171 |
A |
T |
4: 83,599,332 (GRCm39) |
K724* |
probably null |
Het |
| Ccdc91 |
A |
G |
6: 147,435,670 (GRCm39) |
T85A |
possibly damaging |
Het |
| Ccdc9b |
T |
G |
2: 118,591,013 (GRCm39) |
K173N |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,265,629 (GRCm39) |
T224I |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,426,876 (GRCm39) |
I482V |
probably benign |
Het |
| Cnot9 |
A |
G |
1: 74,562,759 (GRCm39) |
E176G |
probably damaging |
Het |
| Cntnap4 |
T |
G |
8: 113,608,395 (GRCm39) |
L1272V |
possibly damaging |
Het |
| Cyb5a |
T |
A |
18: 84,869,605 (GRCm39) |
M1K |
probably null |
Het |
| Cyp2c23 |
A |
G |
19: 43,993,947 (GRCm39) |
I473T |
probably benign |
Het |
| Dbil5 |
T |
A |
11: 76,109,276 (GRCm39) |
M60K |
probably benign |
Het |
| Defa38 |
T |
A |
8: 21,585,217 (GRCm39) |
Q75L |
probably benign |
Het |
| Dgkg |
A |
T |
16: 22,319,129 (GRCm39) |
L644Q |
probably damaging |
Het |
| Disp3 |
T |
C |
4: 148,334,282 (GRCm39) |
I1004V |
probably benign |
Het |
| Egf |
T |
A |
3: 129,506,655 (GRCm39) |
I599F |
probably damaging |
Het |
| Epc2 |
A |
G |
2: 49,426,675 (GRCm39) |
T145A |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
A |
T |
14: 65,313,316 (GRCm39) |
V622E |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,510,446 (GRCm39) |
V403I |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,153,499 (GRCm39) |
D3571V |
probably benign |
Het |
| Fcho2 |
A |
G |
13: 98,886,358 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
G |
5: 96,676,445 (GRCm39) |
N64S |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,366,832 (GRCm39) |
N352S |
possibly damaging |
Het |
| Gabra1 |
T |
C |
11: 42,045,771 (GRCm39) |
N113S |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,924,307 (GRCm39) |
Y227C |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,084 (GRCm39) |
C362S |
probably damaging |
Het |
| Gprc6a |
T |
A |
10: 51,504,533 (GRCm39) |
T104S |
probably benign |
Het |
| Jph1 |
A |
C |
1: 17,161,876 (GRCm39) |
V262G |
probably benign |
Het |
| Kank1 |
C |
G |
19: 25,387,713 (GRCm39) |
T434R |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,704,325 (GRCm39) |
S1173G |
possibly damaging |
Het |
| Krt75 |
G |
A |
15: 101,482,308 (GRCm39) |
|
probably benign |
Het |
| Lyzl1 |
G |
T |
18: 4,181,192 (GRCm39) |
W77L |
probably null |
Het |
| Nipbl |
T |
G |
15: 8,380,764 (GRCm39) |
N676T |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,970,986 (GRCm39) |
S2300N |
probably damaging |
Het |
| Or9a2 |
T |
G |
6: 41,748,837 (GRCm39) |
Y132S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,891,896 (GRCm39) |
M350L |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,579,682 (GRCm39) |
D460G |
probably damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,987,300 (GRCm39) |
K540N |
probably benign |
Het |
| Prdm12 |
T |
A |
2: 31,530,205 (GRCm39) |
I32N |
probably damaging |
Het |
| Psen2 |
C |
T |
1: 180,056,419 (GRCm39) |
A393T |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,583,888 (GRCm39) |
T235S |
probably benign |
Het |
| Ranbp3 |
C |
T |
17: 57,012,527 (GRCm39) |
P182L |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,379,390 (GRCm39) |
K266* |
probably null |
Het |
| Sesn3 |
T |
C |
9: 14,219,817 (GRCm39) |
S69P |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,184,535 (GRCm39) |
M818T |
probably damaging |
Het |
| Slc25a53 |
C |
A |
X: 135,916,084 (GRCm39) |
C4F |
unknown |
Het |
| Snx1 |
T |
A |
9: 66,003,879 (GRCm39) |
L255F |
probably benign |
Het |
| Sptbn2 |
T |
G |
19: 4,769,004 (GRCm39) |
S46A |
possibly damaging |
Het |
| Taf4 |
A |
G |
2: 179,574,820 (GRCm39) |
F595S |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,944,098 (GRCm39) |
V103E |
probably damaging |
Het |
| Tmco5b |
T |
C |
2: 113,121,136 (GRCm39) |
S147P |
possibly damaging |
Het |
| Uchl5 |
C |
T |
1: 143,675,675 (GRCm39) |
T93I |
possibly damaging |
Het |
| Usp14 |
A |
T |
18: 10,004,994 (GRCm39) |
S225T |
probably benign |
Het |
| Usp45 |
C |
A |
4: 21,797,385 (GRCm39) |
Q238K |
possibly damaging |
Het |
| Vmn1r6 |
T |
A |
6: 56,980,058 (GRCm39) |
M218K |
possibly damaging |
Het |
| Zfp84 |
T |
A |
7: 29,476,728 (GRCm39) |
Y473* |
probably null |
Het |
| Zyg11b |
G |
A |
4: 108,123,410 (GRCm39) |
P186S |
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 |
|
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 |
|
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'- GGTATGCTGGACTCCGCATGAC -3'
(R):5'- GCAGATCCTGCTTGAGATGTCCC -3'
Sequencing Primer
(F):5'- AGATGATATACTTCACCCTTGCAGTC -3'
(R):5'- GCAATTCACCATGCTAGAACTTAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation