Incidental Mutation 'R1665:Prkd1'
ID |
187130 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prkd1
|
Ensembl Gene |
ENSMUSG00000002688 |
Gene Name |
protein kinase D1 |
Synonyms |
PKD1, Prkcm, Pkcm |
MMRRC Submission |
039701-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1665 (G1)
|
Quality Score |
225 |
Status
|
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: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.0%
|
Validation Efficiency |
100% (87/87) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
G |
A |
17: 24,596,816 (GRCm39) |
G423E |
probably damaging |
Het |
Acox3 |
A |
T |
5: 35,760,371 (GRCm39) |
H429L |
probably damaging |
Het |
Afg1l |
T |
A |
10: 42,302,573 (GRCm39) |
K142N |
probably damaging |
Het |
Aldh1a7 |
T |
C |
19: 20,704,825 (GRCm39) |
I18V |
probably benign |
Het |
Angel2 |
T |
C |
1: 190,669,664 (GRCm39) |
Y115H |
probably damaging |
Het |
Bsg |
T |
G |
10: 79,547,352 (GRCm39) |
N261K |
probably damaging |
Het |
C2cd2l |
A |
T |
9: 44,228,072 (GRCm39) |
V83E |
probably benign |
Het |
Caml |
C |
A |
13: 55,779,784 (GRCm39) |
L286I |
probably benign |
Het |
Ccdc125 |
A |
G |
13: 100,830,081 (GRCm39) |
I284V |
probably benign |
Het |
Ces2a |
G |
A |
8: 105,464,187 (GRCm39) |
|
probably benign |
Het |
Cfap61 |
T |
C |
2: 145,877,239 (GRCm39) |
|
probably null |
Het |
Creg2 |
C |
T |
1: 39,662,372 (GRCm39) |
W253* |
probably null |
Het |
Csmd3 |
T |
C |
15: 47,560,185 (GRCm39) |
T2293A |
probably damaging |
Het |
Cttnbp2 |
A |
T |
6: 18,434,982 (GRCm39) |
I292K |
probably benign |
Het |
Dab2ip |
T |
A |
2: 35,610,290 (GRCm39) |
M770K |
probably damaging |
Het |
Dct |
T |
A |
14: 118,271,663 (GRCm39) |
D389V |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 118,012,321 (GRCm39) |
|
probably benign |
Het |
Dnah6 |
T |
C |
6: 73,101,761 (GRCm39) |
E1921G |
probably benign |
Het |
Efcab3 |
A |
G |
11: 104,611,940 (GRCm39) |
K594R |
probably benign |
Het |
Ehmt1 |
A |
G |
2: 24,767,476 (GRCm39) |
S272P |
probably damaging |
Het |
Ero1b |
T |
C |
13: 12,594,142 (GRCm39) |
|
probably null |
Het |
Fnip2 |
A |
G |
3: 79,422,456 (GRCm39) |
F108S |
probably benign |
Het |
Foxb1 |
G |
A |
9: 69,667,104 (GRCm39) |
A142V |
probably damaging |
Het |
Fras1 |
A |
T |
5: 96,746,768 (GRCm39) |
S613C |
probably damaging |
Het |
Gm7276 |
C |
A |
18: 77,273,266 (GRCm39) |
|
probably benign |
Het |
Gnb4 |
A |
C |
3: 32,644,188 (GRCm39) |
L152* |
probably null |
Het |
H1f7 |
G |
T |
15: 98,154,796 (GRCm39) |
Q118K |
probably benign |
Het |
Hdac7 |
A |
G |
15: 97,704,406 (GRCm39) |
L119P |
probably damaging |
Het |
Hsd17b4 |
G |
A |
18: 50,293,282 (GRCm39) |
E274K |
probably benign |
Het |
Htr4 |
T |
C |
18: 62,545,305 (GRCm39) |
I30T |
probably damaging |
Het |
Ikzf2 |
T |
A |
1: 69,577,973 (GRCm39) |
Y512F |
probably damaging |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Klhl22 |
C |
A |
16: 17,594,352 (GRCm39) |
D160E |
probably benign |
Het |
Kpna6 |
T |
A |
4: 129,551,264 (GRCm39) |
R80S |
probably benign |
Het |
Lclat1 |
A |
G |
17: 73,494,999 (GRCm39) |
E142G |
probably damaging |
Het |
Lrig3 |
T |
C |
10: 125,833,570 (GRCm39) |
Y349H |
probably benign |
Het |
Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
Map1b |
T |
A |
13: 99,568,437 (GRCm39) |
N1428I |
unknown |
Het |
Map3k19 |
T |
A |
1: 127,745,393 (GRCm39) |
T1354S |
possibly damaging |
Het |
Med13l |
T |
A |
5: 118,887,813 (GRCm39) |
W1696R |
probably damaging |
Het |
Mfn1 |
T |
G |
3: 32,588,471 (GRCm39) |
V66G |
probably benign |
Het |
Mllt10 |
A |
T |
2: 18,213,601 (GRCm39) |
Q459L |
possibly damaging |
Het |
Morc2a |
G |
A |
11: 3,625,885 (GRCm39) |
V162M |
probably benign |
Het |
Muc15 |
C |
T |
2: 110,564,243 (GRCm39) |
Q260* |
probably null |
Het |
Nfkb1 |
T |
C |
3: 135,300,718 (GRCm39) |
H616R |
probably damaging |
Het |
Nr2c1 |
T |
A |
10: 94,024,045 (GRCm39) |
W417R |
probably damaging |
Het |
Or10a2 |
T |
C |
7: 106,673,481 (GRCm39) |
S149P |
probably damaging |
Het |
Or13a26 |
G |
T |
7: 140,284,707 (GRCm39) |
C181F |
probably damaging |
Het |
Or4g16 |
T |
C |
2: 111,137,116 (GRCm39) |
C189R |
probably damaging |
Het |
Or4k39 |
T |
C |
2: 111,239,098 (GRCm39) |
Y113H |
probably damaging |
Het |
Or5b121 |
A |
T |
19: 13,507,202 (GRCm39) |
H99L |
probably damaging |
Het |
Or8c10 |
C |
T |
9: 38,278,862 (GRCm39) |
H7Y |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,117,702 (GRCm39) |
D26G |
probably damaging |
Het |
Pi15 |
G |
T |
1: 17,691,726 (GRCm39) |
C176F |
probably damaging |
Het |
Pou2f2 |
T |
A |
7: 24,792,149 (GRCm39) |
T569S |
possibly damaging |
Het |
Prf1 |
A |
C |
10: 61,138,666 (GRCm39) |
E208A |
probably benign |
Het |
Rc3h1 |
T |
A |
1: 160,786,993 (GRCm39) |
V796E |
probably benign |
Het |
Rgl1 |
T |
C |
1: 152,409,326 (GRCm39) |
Y503C |
probably damaging |
Het |
Ripk3 |
T |
A |
14: 56,023,808 (GRCm39) |
H1L |
probably benign |
Het |
Ryr1 |
C |
T |
7: 28,735,503 (GRCm39) |
D4064N |
probably damaging |
Het |
Sec63 |
T |
A |
10: 42,674,724 (GRCm39) |
|
probably null |
Het |
Slco1a4 |
T |
G |
6: 141,785,303 (GRCm39) |
M96L |
possibly damaging |
Het |
Slit3 |
A |
T |
11: 35,125,733 (GRCm39) |
R137S |
possibly damaging |
Het |
Smad1 |
T |
C |
8: 80,098,658 (GRCm39) |
E52G |
probably damaging |
Het |
Srd5a2 |
A |
T |
17: 74,328,476 (GRCm39) |
W201R |
probably damaging |
Het |
Steap1 |
A |
T |
5: 5,786,498 (GRCm39) |
L313Q |
probably damaging |
Het |
Syt2 |
C |
A |
1: 134,675,358 (GRCm39) |
A403D |
probably damaging |
Het |
Tax1bp1 |
T |
A |
6: 52,713,897 (GRCm39) |
S225R |
probably benign |
Het |
Thap3 |
C |
T |
4: 152,070,161 (GRCm39) |
V78M |
probably damaging |
Het |
Thoc5 |
A |
G |
11: 4,869,792 (GRCm39) |
K446R |
probably benign |
Het |
Timmdc1 |
A |
C |
16: 38,331,079 (GRCm39) |
|
probably null |
Het |
Tm6sf2 |
G |
T |
8: 70,531,580 (GRCm39) |
|
probably benign |
Het |
Tmem126b |
G |
T |
7: 90,125,179 (GRCm39) |
A2E |
probably damaging |
Het |
Trim9 |
T |
A |
12: 70,301,887 (GRCm39) |
R584W |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,661,200 (GRCm39) |
|
probably benign |
Het |
Vmn1r25 |
A |
T |
6: 57,955,446 (GRCm39) |
I281N |
probably damaging |
Het |
Wdr59 |
A |
G |
8: 112,205,994 (GRCm39) |
F553S |
probably damaging |
Het |
Zc3h4 |
A |
G |
7: 16,163,505 (GRCm39) |
M575V |
unknown |
Het |
Zfp53 |
A |
G |
17: 21,729,766 (GRCm39) |
T600A |
probably damaging |
Het |
Zic5 |
A |
G |
14: 122,696,939 (GRCm39) |
S559P |
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 |
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'- CGCAGCGTTTGTGACAGTTGAATC -3'
(R):5'- TCAAGTGTATGACACGCATTCACCC -3'
Sequencing Primer
(F):5'- TGTGACAGTTGAATCTGCAATC -3'
(R):5'- GTATGACACGCATTCACCCATTATG -3'
|
Posted On |
2014-05-09 |