Incidental Mutation 'R1735:Prkd1'
| ID |
199659 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prkd1
|
| Ensembl Gene |
ENSMUSG00000002688 |
| Gene Name |
protein kinase D1 |
| Synonyms |
PKD1, Prkcm, Pkcm |
| MMRRC Submission |
039767-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1735 (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 50388822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 907
(E907G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
| AlphaFold |
Q62101 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002765
AA Change: E907G
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000002765
Gene: ENSMUSG00000002688
AA Change: E907G
| 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: 97.6%
- 3x: 97.0%
- 10x: 95.3%
- 20x: 92.1%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot5 |
A |
T |
12: 84,122,261 (GRCm39) |
I282F |
probably benign |
Het |
| Adam19 |
C |
A |
11: 46,029,744 (GRCm39) |
Q730K |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,636,066 (GRCm39) |
V3481A |
possibly damaging |
Het |
| Akr1c20 |
T |
C |
13: 4,537,207 (GRCm39) |
D316G |
probably benign |
Het |
| Ap3b1 |
G |
A |
13: 94,630,225 (GRCm39) |
V827I |
unknown |
Het |
| Aph1a |
T |
A |
3: 95,802,821 (GRCm39) |
D140E |
probably damaging |
Het |
| Arhgef19 |
G |
T |
4: 140,976,929 (GRCm39) |
V502L |
possibly damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,473 (GRCm39) |
F67S |
probably damaging |
Het |
| B430305J03Rik |
G |
A |
3: 61,271,361 (GRCm39) |
|
probably benign |
Het |
| B4galnt2 |
A |
G |
11: 95,781,809 (GRCm39) |
F119L |
probably damaging |
Het |
| Bcap29 |
T |
A |
12: 31,680,839 (GRCm39) |
N49I |
probably damaging |
Het |
| Capn11 |
T |
A |
17: 45,943,327 (GRCm39) |
K616* |
probably null |
Het |
| Cdh12 |
T |
A |
15: 21,520,452 (GRCm39) |
Y306N |
probably damaging |
Het |
| Cep350 |
T |
A |
1: 155,828,960 (GRCm39) |
N315Y |
probably damaging |
Het |
| Cfap300 |
A |
C |
9: 8,027,266 (GRCm39) |
S91A |
probably benign |
Het |
| Cited2 |
C |
A |
10: 17,599,794 (GRCm39) |
P34Q |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,226,297 (GRCm39) |
D2930E |
probably benign |
Het |
| Cog3 |
T |
A |
14: 75,966,761 (GRCm39) |
K470* |
probably null |
Het |
| Commd10 |
A |
G |
18: 47,123,552 (GRCm39) |
T136A |
probably benign |
Het |
| Csf2ra |
C |
A |
19: 61,214,782 (GRCm39) |
D181Y |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,982,610 (GRCm39) |
I2686F |
probably damaging |
Het |
| Dhx29 |
T |
C |
13: 113,081,620 (GRCm39) |
S415P |
probably benign |
Het |
| Dsel |
A |
T |
1: 111,788,645 (GRCm39) |
F630Y |
probably damaging |
Het |
| Ell |
T |
A |
8: 71,031,590 (GRCm39) |
I96N |
possibly damaging |
Het |
| Ephx2 |
T |
A |
14: 66,325,752 (GRCm39) |
I358L |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,463,307 (GRCm39) |
I120T |
probably damaging |
Het |
| Fam187a |
T |
C |
11: 102,776,606 (GRCm39) |
Y137H |
probably damaging |
Het |
| Fastk |
T |
C |
5: 24,646,801 (GRCm39) |
E403G |
probably damaging |
Het |
| Fcrlb |
C |
A |
1: 170,734,901 (GRCm39) |
V409F |
probably benign |
Het |
| Flot2 |
G |
T |
11: 77,948,831 (GRCm39) |
A269S |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,245,563 (GRCm39) |
N419K |
probably damaging |
Het |
| Hecw1 |
A |
T |
13: 14,552,350 (GRCm39) |
M61K |
probably null |
Het |
| Htr2a |
T |
C |
14: 74,943,568 (GRCm39) |
F383L |
probably damaging |
Het |
| Kctd6 |
C |
T |
14: 8,222,253 (GRCm38) |
R32C |
probably damaging |
Het |
| Khdc1a |
A |
G |
1: 21,421,189 (GRCm39) |
T125A |
probably benign |
Het |
| Klhl40 |
T |
C |
9: 121,609,004 (GRCm39) |
S390P |
probably benign |
Het |
| Lonp1 |
G |
A |
17: 56,921,956 (GRCm39) |
T808I |
probably damaging |
Het |
| Loxhd1 |
A |
C |
18: 77,492,585 (GRCm39) |
D1342A |
probably damaging |
Het |
| Lrat |
T |
C |
3: 82,804,417 (GRCm39) |
I187V |
probably benign |
Het |
| Lrif1 |
T |
C |
3: 106,643,162 (GRCm39) |
*238Q |
probably null |
Het |
| Lrp2bp |
T |
C |
8: 46,465,025 (GRCm39) |
F48S |
probably benign |
Het |
| Mafg |
A |
G |
11: 120,520,504 (GRCm39) |
M32T |
possibly damaging |
Het |
| Map4 |
C |
T |
9: 109,864,023 (GRCm39) |
T416I |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,659 (GRCm39) |
F1236S |
probably damaging |
Het |
| Nfatc3 |
A |
G |
8: 106,810,466 (GRCm39) |
D414G |
probably damaging |
Het |
| Nhsl3 |
G |
T |
4: 129,117,370 (GRCm39) |
S476R |
probably damaging |
Het |
| Nrip2 |
T |
G |
6: 128,382,037 (GRCm39) |
V50G |
probably damaging |
Het |
| Or10aa3 |
A |
T |
1: 173,878,365 (GRCm39) |
K142I |
probably benign |
Het |
| Or10j5 |
A |
G |
1: 172,784,374 (GRCm39) |
N4S |
probably benign |
Het |
| Or52ae7 |
T |
A |
7: 103,119,353 (GRCm39) |
F36I |
possibly damaging |
Het |
| Or5b24 |
T |
A |
19: 12,912,207 (GRCm39) |
I35N |
probably damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,822 (GRCm39) |
H384L |
probably benign |
Het |
| Pik3r1 |
A |
T |
13: 101,822,882 (GRCm39) |
Y607N |
probably damaging |
Het |
| Plagl2 |
G |
A |
2: 153,074,397 (GRCm39) |
T168I |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,633,222 (GRCm39) |
S912P |
probably damaging |
Het |
| Ppp1r16b |
A |
G |
2: 158,603,415 (GRCm39) |
K447E |
possibly damaging |
Het |
| Rabep2 |
A |
G |
7: 126,043,712 (GRCm39) |
R470G |
probably damaging |
Het |
| Rasal2 |
T |
C |
1: 157,001,730 (GRCm39) |
Y518C |
probably damaging |
Het |
| Rbmxl1 |
A |
G |
8: 79,232,711 (GRCm39) |
Y211H |
probably damaging |
Het |
| Rdh7 |
T |
C |
10: 127,720,454 (GRCm39) |
Y306C |
probably benign |
Het |
| Rtn3 |
T |
C |
19: 7,435,276 (GRCm39) |
I220V |
probably damaging |
Het |
| Scn8a |
A |
G |
15: 100,913,742 (GRCm39) |
N1045D |
possibly damaging |
Het |
| Scube1 |
T |
C |
15: 83,491,638 (GRCm39) |
H952R |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,039,811 (GRCm39) |
I690T |
probably damaging |
Het |
| Sharpin |
T |
C |
15: 76,232,136 (GRCm39) |
K240R |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,420,656 (GRCm39) |
I1108T |
unknown |
Het |
| Snip1 |
A |
G |
4: 124,964,994 (GRCm39) |
D133G |
probably benign |
Het |
| St3gal3 |
T |
C |
4: 117,871,971 (GRCm39) |
Y77C |
probably damaging |
Het |
| Sytl3 |
T |
C |
17: 6,982,880 (GRCm39) |
V112A |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,936,944 (GRCm39) |
P3718S |
probably damaging |
Het |
| Ttc24 |
A |
T |
3: 87,980,401 (GRCm39) |
|
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,839,473 (GRCm39) |
E1529V |
probably damaging |
Het |
| Utrn |
T |
A |
10: 12,585,882 (GRCm39) |
H965L |
probably benign |
Het |
| Xrn2 |
T |
A |
2: 146,903,343 (GRCm39) |
L781Q |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,811,045 (GRCm39) |
I401T |
probably benign |
Het |
| Zc3h14 |
C |
T |
12: 98,724,839 (GRCm39) |
P167L |
probably damaging |
Het |
| Zfp609 |
G |
T |
9: 65,610,374 (GRCm39) |
S863* |
probably null |
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 |
|
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'- GGCTCTCACCAAAATGAGGCTCTG -3'
(R):5'- ACCTTGGTTCTGATGCTGCCTG -3'
Sequencing Primer
(F):5'- GTCTTGGCAACTCAGATACATC -3'
(R):5'- GAACGTCAAGTTGCAGTGATCTC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation