Incidental Mutation 'R5973:Prkd1'
ID |
501686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkd1
|
Ensembl Gene |
ENSMUSG00000002688 |
Gene Name |
protein kinase D1 |
Synonyms |
PKD1, Prkcm, Pkcm |
MMRRC Submission |
044156-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5973 (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 50435038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 563
(H563R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002765
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002765]
|
AlphaFold |
Q62101 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002765
AA Change: H563R
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002765 Gene: ENSMUSG00000002688 AA Change: H563R
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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.3%
|
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
T |
A |
5: 114,364,928 (GRCm39) |
I1536N |
probably damaging |
Het |
Actr1b |
A |
G |
1: 36,741,162 (GRCm39) |
S140P |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Anapc7 |
A |
T |
5: 122,566,366 (GRCm39) |
T92S |
probably benign |
Het |
Ash2l |
G |
A |
8: 26,307,642 (GRCm39) |
T585M |
possibly damaging |
Het |
Asxl1 |
T |
C |
2: 153,243,931 (GRCm39) |
F1495L |
probably damaging |
Het |
Atp5pf |
T |
C |
16: 84,625,328 (GRCm39) |
|
probably null |
Het |
Bcl2a1c |
A |
G |
9: 114,159,465 (GRCm39) |
N81S |
probably benign |
Het |
Bfsp2 |
A |
C |
9: 103,309,856 (GRCm39) |
|
probably null |
Het |
Casq1 |
A |
G |
1: 172,047,068 (GRCm39) |
Y64H |
probably damaging |
Het |
Ceacam16 |
A |
G |
7: 19,590,262 (GRCm39) |
V227A |
probably damaging |
Het |
Cers6 |
T |
A |
2: 68,898,969 (GRCm39) |
|
probably null |
Het |
Chrnb1 |
A |
G |
11: 69,686,671 (GRCm39) |
|
probably benign |
Het |
Clpb |
G |
A |
7: 101,313,204 (GRCm39) |
V63I |
probably benign |
Het |
Dnah11 |
G |
T |
12: 118,074,687 (GRCm39) |
D1388E |
probably benign |
Het |
Dst |
T |
C |
1: 34,195,938 (GRCm39) |
L405P |
probably damaging |
Het |
Dstyk |
A |
G |
1: 132,362,149 (GRCm39) |
E193G |
probably damaging |
Het |
Dusp2 |
A |
T |
2: 127,179,208 (GRCm39) |
S188C |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,877,697 (GRCm39) |
I810V |
unknown |
Het |
Faim2 |
C |
T |
15: 99,419,132 (GRCm39) |
G79D |
probably benign |
Het |
Fpgt |
A |
T |
3: 154,793,040 (GRCm39) |
I329K |
probably damaging |
Het |
Fut8 |
A |
G |
12: 77,411,771 (GRCm39) |
T78A |
probably benign |
Het |
Gm15130 |
A |
G |
2: 110,965,714 (GRCm39) |
|
probably benign |
Het |
Gm17087 |
A |
C |
17: 8,785,529 (GRCm39) |
I58R |
probably benign |
Het |
Grk2 |
T |
C |
19: 4,337,925 (GRCm39) |
D485G |
possibly damaging |
Het |
Hax1 |
GTCATCATCATCATCATC |
GTCATCATCATCATCATCATC |
3: 89,905,247 (GRCm39) |
|
probably benign |
Het |
Hmcn1 |
A |
G |
1: 150,439,568 (GRCm39) |
S5539P |
probably damaging |
Het |
Hmcn2 |
G |
A |
2: 31,310,335 (GRCm39) |
V3310M |
probably damaging |
Het |
Impdh1 |
A |
T |
6: 29,207,161 (GRCm39) |
L61Q |
probably damaging |
Het |
Inhbb |
A |
T |
1: 119,345,806 (GRCm39) |
V161D |
possibly damaging |
Het |
Kansl2 |
C |
T |
15: 98,427,306 (GRCm39) |
V192M |
probably damaging |
Het |
Krt1c |
T |
C |
15: 101,724,747 (GRCm39) |
K288E |
probably damaging |
Het |
Lyar |
A |
G |
5: 38,385,290 (GRCm39) |
K110R |
probably damaging |
Het |
Lyrm9 |
C |
A |
11: 78,726,961 (GRCm39) |
H35N |
probably damaging |
Het |
Mab21l1 |
A |
G |
3: 55,690,533 (GRCm39) |
D40G |
probably benign |
Het |
Maml2 |
A |
C |
9: 13,532,915 (GRCm39) |
|
probably benign |
Het |
Mbd5 |
A |
G |
2: 49,162,401 (GRCm39) |
H69R |
probably benign |
Het |
Morc2b |
G |
T |
17: 33,356,446 (GRCm39) |
A442E |
probably damaging |
Het |
Moxd2 |
A |
T |
6: 40,855,744 (GRCm39) |
L615Q |
probably damaging |
Het |
Msh2 |
G |
A |
17: 88,016,011 (GRCm39) |
G548S |
probably damaging |
Het |
Napg |
G |
A |
18: 63,128,054 (GRCm39) |
S279N |
possibly damaging |
Het |
Ncor1 |
A |
T |
11: 62,240,136 (GRCm39) |
|
probably null |
Het |
Nkiras2 |
G |
T |
11: 100,516,866 (GRCm39) |
R128L |
probably damaging |
Het |
Npy4r |
T |
C |
14: 33,868,664 (GRCm39) |
D208G |
probably benign |
Het |
Or10ak11 |
C |
T |
4: 118,687,413 (GRCm39) |
V75I |
probably benign |
Het |
Or52e2 |
A |
G |
7: 102,804,081 (GRCm39) |
V291A |
possibly damaging |
Het |
Or8b42 |
G |
T |
9: 38,341,627 (GRCm39) |
L16F |
probably damaging |
Het |
Pcdhgb2 |
A |
G |
18: 37,823,560 (GRCm39) |
T184A |
probably benign |
Het |
Plxna4 |
T |
C |
6: 32,228,000 (GRCm39) |
|
probably null |
Het |
Pnldc1 |
C |
T |
17: 13,113,260 (GRCm39) |
E328K |
probably benign |
Het |
Pon1 |
T |
A |
6: 5,185,334 (GRCm39) |
L55F |
probably damaging |
Het |
Pramel51 |
T |
C |
12: 88,142,683 (GRCm39) |
I312V |
probably benign |
Het |
Prkci |
G |
T |
3: 31,092,605 (GRCm39) |
D296Y |
probably damaging |
Het |
Ptpru |
T |
C |
4: 131,546,236 (GRCm39) |
N266S |
probably benign |
Het |
Rapgef6 |
A |
T |
11: 54,530,609 (GRCm39) |
I589F |
probably damaging |
Het |
Rcan3 |
A |
T |
4: 135,145,853 (GRCm39) |
S127T |
probably benign |
Het |
Sh3tc2 |
A |
G |
18: 62,110,975 (GRCm39) |
D277G |
probably benign |
Het |
Sipa1l3 |
G |
A |
7: 29,098,949 (GRCm39) |
A440V |
probably benign |
Het |
Slc13a2 |
A |
C |
11: 78,291,358 (GRCm39) |
I372S |
probably damaging |
Het |
Slco1a7 |
T |
A |
6: 141,700,182 (GRCm39) |
T117S |
probably benign |
Het |
Spns1 |
A |
T |
7: 125,969,495 (GRCm39) |
I528N |
probably damaging |
Het |
Sult6b2 |
T |
C |
6: 142,736,021 (GRCm39) |
K191R |
probably benign |
Het |
Swt1 |
A |
G |
1: 151,278,700 (GRCm39) |
|
probably null |
Het |
Tcn2 |
A |
T |
11: 3,877,546 (GRCm39) |
L34* |
probably null |
Het |
Tmem131l |
C |
T |
3: 83,829,553 (GRCm39) |
A1035T |
possibly damaging |
Het |
Trpc4 |
A |
G |
3: 54,223,263 (GRCm39) |
E733G |
probably damaging |
Het |
Uap1l1 |
A |
T |
2: 25,254,642 (GRCm39) |
H184Q |
possibly damaging |
Het |
Vil1 |
T |
G |
1: 74,455,192 (GRCm39) |
V48G |
possibly damaging |
Het |
Vps39 |
A |
T |
2: 120,159,186 (GRCm39) |
H367Q |
probably damaging |
Het |
Wars2 |
A |
G |
3: 99,094,962 (GRCm39) |
T86A |
probably benign |
Het |
Wdr90 |
A |
G |
17: 26,064,107 (GRCm39) |
S1872P |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,065,381 (GRCm39) |
L1625P |
probably damaging |
Het |
Xaf1 |
A |
T |
11: 72,194,256 (GRCm39) |
M46L |
probably damaging |
Het |
Zfp1005 |
A |
G |
2: 150,109,855 (GRCm39) |
T182A |
unknown |
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 |
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'- TTAGGAACAATAGCTGTGGGC -3'
(R):5'- ACAGCGAATGTAGTGTATTATGTGG -3'
Sequencing Primer
(F):5'- GCACCTGTGGTCGTATAGTATATAG -3'
(R):5'- TTATGTGGGAGAAAACGTGGTTAACC -3'
|
Posted On |
2017-12-01 |