Incidental Mutation 'R8973:Prag1'
| ID |
683244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| MMRRC Submission |
068807-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8973 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
36561982-36614941 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
C to T
at 36566744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110492
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (77/77) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
T |
13: 70,886,959 (GRCm39) |
I975N |
probably benign |
Het |
| Adcy8 |
A |
G |
15: 64,570,984 (GRCm39) |
*1250Q |
probably null |
Het |
| Anapc1 |
A |
T |
2: 128,505,952 (GRCm39) |
I628N |
probably damaging |
Het |
| Ankrd39 |
C |
T |
1: 36,578,439 (GRCm39) |
|
probably benign |
Het |
| Ankub1 |
A |
T |
3: 57,572,932 (GRCm39) |
S263R |
possibly damaging |
Het |
| Aoah |
A |
G |
13: 21,024,325 (GRCm39) |
I94V |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,329,113 (GRCm39) |
D186G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,855,668 (GRCm39) |
C589* |
probably null |
Het |
| Armt1 |
T |
C |
10: 4,389,550 (GRCm39) |
L69P |
probably damaging |
Het |
| Atxn7l3 |
T |
A |
11: 102,183,598 (GRCm39) |
Y185F |
probably benign |
Het |
| Cacna2d4 |
A |
G |
6: 119,218,142 (GRCm39) |
D159G |
probably damaging |
Het |
| Camta2 |
C |
A |
11: 70,561,184 (GRCm39) |
R1184L |
probably benign |
Het |
| Ccdc192 |
T |
G |
18: 57,725,139 (GRCm39) |
L123V |
possibly damaging |
Het |
| Ccr7 |
G |
A |
11: 99,036,649 (GRCm39) |
T91I |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,831,131 (GRCm39) |
T323A |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Clec2e |
C |
A |
6: 129,070,374 (GRCm39) |
G216* |
probably null |
Het |
| Col25a1 |
T |
C |
3: 130,269,275 (GRCm39) |
S176P |
unknown |
Het |
| Col4a3 |
A |
C |
1: 82,693,052 (GRCm39) |
I1446L |
probably benign |
Het |
| Cplane1 |
T |
C |
15: 8,233,277 (GRCm39) |
W1201R |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,785,000 (GRCm39) |
E823G |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,456,293 (GRCm39) |
T780A |
|
Het |
| Dchs2 |
A |
G |
3: 83,261,763 (GRCm39) |
E2677G |
possibly damaging |
Het |
| Dis3l |
T |
C |
9: 64,246,824 (GRCm39) |
E77G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,121,734 (GRCm39) |
D1416G |
probably benign |
Het |
| Dpyd |
T |
C |
3: 119,108,582 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,267,936 (GRCm39) |
D3112G |
probably damaging |
Het |
| Dusp13b |
A |
C |
14: 21,784,974 (GRCm39) |
N128K |
probably benign |
Het |
| Emilin2 |
T |
G |
17: 71,582,079 (GRCm39) |
K216Q |
probably benign |
Het |
| Enam |
T |
C |
5: 88,641,947 (GRCm39) |
W254R |
possibly damaging |
Het |
| Esrrg |
A |
C |
1: 187,930,947 (GRCm39) |
N346T |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,286,928 (GRCm39) |
G244R |
probably damaging |
Het |
| Fbxw25 |
A |
G |
9: 109,479,132 (GRCm39) |
L373P |
|
Het |
| Gm21060 |
C |
A |
19: 61,285,366 (GRCm39) |
V48L |
possibly damaging |
Het |
| Gtpbp3 |
T |
C |
8: 71,943,806 (GRCm39) |
V254A |
possibly damaging |
Het |
| H2-DMb2 |
A |
G |
17: 34,367,699 (GRCm39) |
D171G |
probably damaging |
Het |
| Hrg |
A |
T |
16: 22,777,968 (GRCm39) |
T242S |
probably benign |
Het |
| Inf2 |
G |
T |
12: 112,573,949 (GRCm39) |
C751F |
unknown |
Het |
| Krt13 |
A |
T |
11: 100,010,264 (GRCm39) |
M239K |
possibly damaging |
Het |
| Lrrc72 |
A |
G |
12: 36,303,293 (GRCm39) |
S7P |
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,433,196 (GRCm39) |
I867V |
probably benign |
Het |
| Mdh2 |
C |
T |
5: 135,819,019 (GRCm39) |
A325V |
possibly damaging |
Het |
| Mki67 |
C |
A |
7: 135,297,364 (GRCm39) |
A2557S |
possibly damaging |
Het |
| Mrpl16 |
A |
T |
19: 11,750,307 (GRCm39) |
R64* |
probably null |
Het |
| Nav1 |
T |
C |
1: 135,512,463 (GRCm39) |
D199G |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,986,585 (GRCm39) |
V662A |
probably damaging |
Het |
| Nek10 |
G |
A |
14: 14,931,321 (GRCm38) |
|
probably null |
Het |
| Or14a257 |
A |
G |
7: 86,138,487 (GRCm39) |
S91P |
probably damaging |
Het |
| Or5t18 |
C |
A |
2: 86,637,200 (GRCm39) |
V48F |
probably benign |
Het |
| Or7g12 |
C |
A |
9: 18,899,974 (GRCm39) |
S230* |
probably null |
Het |
| Or8b37 |
T |
A |
9: 37,958,839 (GRCm39) |
V107D |
possibly damaging |
Het |
| Pcsk7 |
T |
G |
9: 45,838,940 (GRCm39) |
S617R |
probably benign |
Het |
| Pde10a |
C |
A |
17: 9,143,071 (GRCm39) |
Q6K |
probably benign |
Het |
| Pigq |
A |
C |
17: 26,151,141 (GRCm39) |
M396R |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,449,833 (GRCm39) |
D3865E |
probably damaging |
Het |
| Rbis |
C |
T |
3: 14,672,305 (GRCm39) |
V97I |
probably benign |
Het |
| Rint1 |
A |
G |
5: 24,016,728 (GRCm39) |
T498A |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,352,756 (GRCm39) |
F3921I |
|
Het |
| Rpp14 |
A |
G |
14: 8,088,768 (GRCm38) |
S95G |
probably benign |
Het |
| Ryk |
T |
G |
9: 102,739,120 (GRCm39) |
Y78D |
possibly damaging |
Het |
| Sez6 |
A |
T |
11: 77,865,397 (GRCm39) |
Q678L |
probably damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,402 (GRCm39) |
K141E |
probably damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,943,202 (GRCm39) |
I609K |
probably damaging |
Het |
| Slc44a4 |
T |
C |
17: 35,140,538 (GRCm39) |
F244L |
probably damaging |
Het |
| Spata31e1 |
A |
T |
13: 49,941,715 (GRCm39) |
D80E |
probably benign |
Het |
| Susd5 |
T |
C |
9: 113,911,572 (GRCm39) |
Y161H |
possibly damaging |
Het |
| Syne3 |
A |
G |
12: 104,925,654 (GRCm39) |
|
probably null |
Het |
| Tbcd |
G |
C |
11: 121,387,679 (GRCm39) |
|
probably benign |
Het |
| Tektip1 |
T |
C |
10: 81,199,849 (GRCm39) |
D129G |
unknown |
Het |
| Tmc1 |
A |
T |
19: 20,878,215 (GRCm39) |
N93K |
probably benign |
Het |
| Tmem100 |
T |
A |
11: 89,926,302 (GRCm39) |
M43K |
probably benign |
Het |
| Tmem131l |
A |
T |
3: 83,836,039 (GRCm39) |
V690D |
probably damaging |
Het |
| Trim8 |
A |
G |
19: 46,503,903 (GRCm39) |
Q485R |
possibly damaging |
Het |
| Vmn2r63 |
A |
T |
7: 42,577,919 (GRCm39) |
H206Q |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,452,150 (GRCm39) |
N443K |
possibly damaging |
Het |
| Zan |
T |
A |
5: 137,387,578 (GRCm39) |
I4878F |
unknown |
Het |
| Zfand4 |
A |
G |
6: 116,291,041 (GRCm39) |
D344G |
probably benign |
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 |
|
R0486:Prag1
|
UTSW |
8 |
36,613,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- GCTGCCCAAGGAATATCAAAGC -3'
(R):5'- TCACTTCGCAAGCAGAAGC -3'
Sequencing Primer
(F):5'- AGCTATCAAAGGGCTTCTGGC -3'
(R):5'- TTCGCAAGCAGAAGCAGTTCTTG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation