Incidental Mutation 'R0486:Prag1'
| ID |
42285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| MMRRC Submission |
038685-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0486 (G1)
|
| Quality Score |
180 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
36561982-36614941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36613787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 1113
(E1113V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110492
AA Change: E1113V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: E1113V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
317 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
412 |
N/A |
INTRINSIC |
|
low complexity region
|
525 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
781 |
793 |
N/A |
INTRINSIC |
|
low complexity region
|
892 |
925 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
1060 |
1288 |
1.7e-7 |
PFAM |
|
Pfam:Pkinase
|
1061 |
1293 |
1.5e-13 |
PFAM |
|
low complexity region
|
1363 |
1373 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4413 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
98% (65/66) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the tyrosine protein kinase family. A similar protein in rat binds to Rho family GTPase 2 (Rnd2) and regulates neurite outgrowth via activation of Ras homolog gene family, member A (RhoA). [provided by RefSeq, Mar 2014]
PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco1 |
T |
C |
4: 40,177,783 (GRCm39) |
L268P |
probably damaging |
Het |
| Adam22 |
A |
T |
5: 8,380,048 (GRCm39) |
H83Q |
probably damaging |
Het |
| Anln |
T |
C |
9: 22,264,122 (GRCm39) |
D886G |
probably benign |
Het |
| Arhgef11 |
T |
A |
3: 87,596,159 (GRCm39) |
|
probably null |
Het |
| Ark2c |
T |
A |
18: 77,571,950 (GRCm39) |
Q91L |
probably damaging |
Het |
| Arl8b |
A |
T |
6: 108,792,287 (GRCm39) |
D116V |
possibly damaging |
Het |
| BC051665 |
C |
T |
13: 60,931,859 (GRCm39) |
G180D |
probably damaging |
Het |
| Bloc1s2 |
A |
G |
19: 44,131,589 (GRCm39) |
|
probably benign |
Het |
| Ccdc185 |
T |
G |
1: 182,575,424 (GRCm39) |
S422R |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,915,408 (GRCm39) |
K720E |
possibly damaging |
Het |
| Cdh23 |
C |
A |
10: 60,222,725 (GRCm39) |
A1236S |
probably damaging |
Het |
| Chd1 |
G |
A |
17: 15,954,604 (GRCm39) |
A491T |
probably damaging |
Het |
| Chdh |
T |
C |
14: 29,754,815 (GRCm39) |
V275A |
possibly damaging |
Het |
| Cmtm2b |
A |
T |
8: 105,057,047 (GRCm39) |
I136F |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,204,551 (GRCm39) |
V457A |
probably damaging |
Het |
| Cwf19l1 |
A |
G |
19: 44,103,129 (GRCm39) |
V362A |
probably benign |
Het |
| Cyp4f17 |
T |
C |
17: 32,743,797 (GRCm39) |
|
probably benign |
Het |
| Cyp4f18 |
C |
A |
8: 72,749,861 (GRCm39) |
V263L |
probably benign |
Het |
| Dclre1a |
A |
G |
19: 56,529,922 (GRCm39) |
|
probably benign |
Het |
| Dpp6 |
T |
C |
5: 27,866,640 (GRCm39) |
I446T |
probably benign |
Het |
| F11r |
T |
C |
1: 171,288,156 (GRCm39) |
W61R |
probably damaging |
Het |
| Fam120b |
C |
T |
17: 15,646,550 (GRCm39) |
|
probably benign |
Het |
| Fastkd2 |
T |
C |
1: 63,791,499 (GRCm39) |
V669A |
possibly damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,314 (GRCm39) |
|
probably benign |
Het |
| Foxo3 |
A |
G |
10: 42,073,477 (GRCm39) |
Y347H |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Gbp7 |
C |
A |
3: 142,252,078 (GRCm39) |
|
probably benign |
Het |
| Glipr1 |
T |
C |
10: 111,832,754 (GRCm39) |
|
probably benign |
Het |
| Gm11555 |
A |
G |
11: 99,540,986 (GRCm39) |
S8P |
unknown |
Het |
| H6pd |
G |
A |
4: 150,067,393 (GRCm39) |
|
probably benign |
Het |
| Haus8 |
C |
T |
8: 71,709,182 (GRCm39) |
M75I |
probably benign |
Het |
| Haus8 |
C |
A |
8: 71,709,181 (GRCm39) |
G76W |
probably damaging |
Het |
| Kcnj13 |
C |
A |
1: 87,314,752 (GRCm39) |
V157L |
probably damaging |
Het |
| Kcnt2 |
T |
A |
1: 140,437,218 (GRCm39) |
C550* |
probably null |
Het |
| Kdm5d |
A |
G |
Y: 927,107 (GRCm39) |
N615S |
probably damaging |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Ncapd2 |
G |
A |
6: 125,160,990 (GRCm39) |
R292* |
probably null |
Het |
| Ngef |
T |
A |
1: 87,406,848 (GRCm39) |
N640I |
probably damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,359,858 (GRCm39) |
Y335C |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,368,354 (GRCm39) |
|
probably benign |
Het |
| Nop2 |
A |
G |
6: 125,117,636 (GRCm39) |
K434R |
probably null |
Het |
| Nr4a3 |
T |
C |
4: 48,056,525 (GRCm39) |
|
probably benign |
Het |
| Or8b35 |
A |
G |
9: 37,903,998 (GRCm39) |
N70S |
possibly damaging |
Het |
| Piezo2 |
A |
C |
18: 63,162,132 (GRCm39) |
I2233R |
probably damaging |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Psmd1 |
T |
A |
1: 86,022,012 (GRCm39) |
N611K |
probably damaging |
Het |
| Ptpn7 |
C |
T |
1: 135,065,096 (GRCm39) |
T168I |
probably damaging |
Het |
| Pus1 |
A |
T |
5: 110,927,596 (GRCm39) |
V53E |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,093,028 (GRCm39) |
M415T |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,751,632 (GRCm39) |
T1490M |
probably benign |
Het |
| Rnf20 |
C |
A |
4: 49,645,907 (GRCm39) |
L332I |
possibly damaging |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spam1 |
A |
T |
6: 24,796,394 (GRCm39) |
Q115L |
probably damaging |
Het |
| Syce1l |
A |
T |
8: 114,381,395 (GRCm39) |
|
probably null |
Het |
| Synj1 |
T |
C |
16: 90,735,151 (GRCm39) |
|
probably benign |
Het |
| Tas2r126 |
A |
T |
6: 42,412,225 (GRCm39) |
I253F |
probably benign |
Het |
| Tecpr2 |
G |
A |
12: 110,862,803 (GRCm39) |
V72I |
probably benign |
Het |
| Tfap2a |
G |
T |
13: 40,882,170 (GRCm39) |
P45Q |
probably damaging |
Het |
| Trip12 |
C |
A |
1: 84,738,805 (GRCm39) |
G714* |
probably null |
Het |
| Wdr31 |
A |
G |
4: 62,372,130 (GRCm39) |
S330P |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,622,769 (GRCm39) |
|
probably benign |
Het |
| Yes1 |
T |
A |
5: 32,812,926 (GRCm39) |
Y343* |
probably null |
Het |
|
| Other mutations in Prag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01107:Prag1
|
APN |
8 |
36,567,085 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01132:Prag1
|
APN |
8 |
36,613,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01322:Prag1
|
APN |
8 |
36,571,088 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01343:Prag1
|
APN |
8 |
36,570,200 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01726:Prag1
|
APN |
8 |
36,570,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01739:Prag1
|
APN |
8 |
36,569,834 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02420:Prag1
|
APN |
8 |
36,614,580 (GRCm39) |
utr 3 prime |
probably benign |
|
|
IGL02433:Prag1
|
APN |
8 |
36,606,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02627:Prag1
|
APN |
8 |
36,606,593 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02797:Prag1
|
APN |
8 |
36,606,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03070:Prag1
|
APN |
8 |
36,570,703 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03323:Prag1
|
APN |
8 |
36,607,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4340:Prag1
|
UTSW |
8 |
36,571,040 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Prag1
|
UTSW |
8 |
36,571,039 (GRCm39) |
small insertion |
probably benign |
|
|
FR4589:Prag1
|
UTSW |
8 |
36,571,037 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Prag1
|
UTSW |
8 |
36,571,037 (GRCm39) |
small insertion |
probably benign |
|
|
R0325:Prag1
|
UTSW |
8 |
36,570,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0506:Prag1
|
UTSW |
8 |
36,570,854 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0507:Prag1
|
UTSW |
8 |
36,571,277 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0595:Prag1
|
UTSW |
8 |
36,614,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0618:Prag1
|
UTSW |
8 |
36,566,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0618:Prag1
|
UTSW |
8 |
36,566,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0885:Prag1
|
UTSW |
8 |
36,570,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1015:Prag1
|
UTSW |
8 |
36,613,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1168:Prag1
|
UTSW |
8 |
36,613,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1182:Prag1
|
UTSW |
8 |
36,614,413 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1227:Prag1
|
UTSW |
8 |
36,607,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1282:Prag1
|
UTSW |
8 |
36,567,068 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1469:Prag1
|
UTSW |
8 |
36,613,452 (GRCm39) |
splice site |
probably benign |
|
|
R1656:Prag1
|
UTSW |
8 |
36,571,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1660:Prag1
|
UTSW |
8 |
36,607,177 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1676:Prag1
|
UTSW |
8 |
36,570,052 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1820:Prag1
|
UTSW |
8 |
36,570,958 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1970:Prag1
|
UTSW |
8 |
36,596,314 (GRCm39) |
splice site |
probably null |
|
|
R1974:Prag1
|
UTSW |
8 |
36,570,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4398:Prag1
|
UTSW |
8 |
36,570,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Prag1
|
UTSW |
8 |
36,613,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4627:Prag1
|
UTSW |
8 |
36,570,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Prag1
|
UTSW |
8 |
36,606,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5131:Prag1
|
UTSW |
8 |
36,607,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Prag1
|
UTSW |
8 |
36,567,043 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5346:Prag1
|
UTSW |
8 |
36,570,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5414:Prag1
|
UTSW |
8 |
36,606,776 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5535:Prag1
|
UTSW |
8 |
36,571,168 (GRCm39) |
missense |
probably benign |
|
|
R5687:Prag1
|
UTSW |
8 |
36,613,967 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5785:Prag1
|
UTSW |
8 |
36,570,641 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5817:Prag1
|
UTSW |
8 |
36,570,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6002:Prag1
|
UTSW |
8 |
36,571,337 (GRCm39) |
missense |
probably benign |
0.31 |
|
R6127:Prag1
|
UTSW |
8 |
36,614,555 (GRCm39) |
missense |
unknown |
|
|
R6240:Prag1
|
UTSW |
8 |
36,570,506 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6277:Prag1
|
UTSW |
8 |
36,613,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Prag1
|
UTSW |
8 |
36,569,860 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6741:Prag1
|
UTSW |
8 |
36,614,434 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6925:Prag1
|
UTSW |
8 |
36,571,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7085:Prag1
|
UTSW |
8 |
36,571,391 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7095:Prag1
|
UTSW |
8 |
36,569,714 (GRCm39) |
missense |
probably benign |
|
|
R7204:Prag1
|
UTSW |
8 |
36,613,915 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7213:Prag1
|
UTSW |
8 |
36,613,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7567:Prag1
|
UTSW |
8 |
36,569,760 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R7577:Prag1
|
UTSW |
8 |
36,614,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7783:Prag1
|
UTSW |
8 |
36,570,409 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8146:Prag1
|
UTSW |
8 |
36,571,364 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8152:Prag1
|
UTSW |
8 |
36,567,079 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8157:Prag1
|
UTSW |
8 |
36,614,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8332:Prag1
|
UTSW |
8 |
36,613,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8821:Prag1
|
UTSW |
8 |
36,613,891 (GRCm39) |
missense |
probably benign |
|
|
R8831:Prag1
|
UTSW |
8 |
36,613,891 (GRCm39) |
missense |
probably benign |
|
|
R8927:Prag1
|
UTSW |
8 |
36,614,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Prag1
|
UTSW |
8 |
36,614,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Prag1
|
UTSW |
8 |
36,566,744 (GRCm39) |
start gained |
probably benign |
|
|
R9516:Prag1
|
UTSW |
8 |
36,607,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Prag1
|
UTSW |
8 |
36,570,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Prag1
|
UTSW |
8 |
36,571,069 (GRCm39) |
missense |
probably benign |
0.20 |
|
Z1177:Prag1
|
UTSW |
8 |
36,614,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTTTCACAGAACCACAGGTCCC -3'
(R):5'- TTCAGGAAGTTGCTGATGATGAGCC -3'
Sequencing Primer
(F):5'- CGGTGCATTTCAACATCCAG -3'
(R):5'- TGCTTCTCACCAGGCCC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation