Incidental Mutation 'R1168:Prag1'
| ID |
101328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| MMRRC Submission |
039241-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1168 (G1)
|
| Quality Score |
158 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
36561982-36614941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36613799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1117
(E1117G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110492
AA Change: E1117G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: E1117G
| 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: 99.1%
- 3x: 98.1%
- 10x: 95.2%
- 20x: 88.8%
|
| Validation Efficiency |
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,773,661 (GRCm39) |
V950A |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,865,280 (GRCm39) |
S188T |
probably benign |
Het |
| Ahr |
A |
T |
12: 35,554,531 (GRCm39) |
N529K |
possibly damaging |
Het |
| Akr1c21 |
A |
G |
13: 4,633,836 (GRCm39) |
N302D |
probably benign |
Het |
| Aldh8a1 |
T |
A |
10: 21,260,530 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
A |
T |
7: 80,753,105 (GRCm39) |
K1554M |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,250,330 (GRCm39) |
H360Q |
probably benign |
Het |
| Cacna1a |
A |
G |
8: 85,306,130 (GRCm39) |
I1293V |
probably damaging |
Het |
| Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
| Cd200r4 |
T |
A |
16: 44,653,307 (GRCm39) |
W72R |
probably damaging |
Het |
| Ces2e |
A |
T |
8: 105,653,646 (GRCm39) |
D28V |
possibly damaging |
Het |
| Cfap20dc |
T |
C |
14: 8,442,939 (GRCm38) |
N610S |
probably benign |
Het |
| Cfap45 |
T |
C |
1: 172,373,264 (GRCm39) |
Y534H |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,773,782 (GRCm39) |
C87S |
probably damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Chrna4 |
T |
A |
2: 180,675,931 (GRCm39) |
M67L |
possibly damaging |
Het |
| Cplx3 |
G |
A |
9: 57,515,595 (GRCm39) |
R427C |
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,501,631 (GRCm39) |
N290Y |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,483,489 (GRCm39) |
M94L |
probably damaging |
Het |
| Fam83d |
C |
T |
2: 158,610,443 (GRCm39) |
A137V |
probably benign |
Het |
| Foxd2 |
C |
T |
4: 114,764,875 (GRCm39) |
A382T |
possibly damaging |
Het |
| Galnt11 |
T |
G |
5: 25,455,244 (GRCm39) |
S193R |
probably damaging |
Het |
| Gapvd1 |
A |
T |
2: 34,594,481 (GRCm39) |
D856E |
probably damaging |
Het |
| Gclm |
T |
A |
3: 122,056,337 (GRCm39) |
H86Q |
possibly damaging |
Het |
| Gipc2 |
T |
C |
3: 151,813,634 (GRCm39) |
T220A |
probably benign |
Het |
| Gm12185 |
G |
T |
11: 48,806,182 (GRCm39) |
N336K |
possibly damaging |
Het |
| Gm5431 |
A |
T |
11: 48,786,191 (GRCm39) |
S61R |
probably benign |
Het |
| Gorasp2 |
C |
T |
2: 70,518,744 (GRCm39) |
P260S |
probably damaging |
Het |
| H2-M10.6 |
A |
G |
17: 37,124,052 (GRCm39) |
Q172R |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,450,018 (GRCm39) |
I6V |
probably damaging |
Het |
| Iqsec1 |
T |
C |
6: 90,666,658 (GRCm39) |
Y593C |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,495,138 (GRCm39) |
K429R |
probably damaging |
Het |
| Itln1 |
G |
T |
1: 171,359,119 (GRCm39) |
Y61* |
probably null |
Het |
| Kif21a |
G |
A |
15: 90,877,956 (GRCm39) |
T284I |
probably damaging |
Het |
| Kif3a |
G |
A |
11: 53,489,139 (GRCm39) |
G621R |
probably damaging |
Het |
| Klb |
A |
G |
5: 65,536,317 (GRCm39) |
Y549C |
probably damaging |
Het |
| Lrrc37 |
T |
C |
11: 103,509,776 (GRCm39) |
|
probably benign |
Het |
| Map4 |
T |
C |
9: 109,864,032 (GRCm39) |
V419A |
probably benign |
Het |
| Mastl |
A |
T |
2: 23,023,144 (GRCm39) |
D526E |
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,486,914 (GRCm39) |
D308G |
probably benign |
Het |
| Ncald |
A |
G |
15: 37,397,578 (GRCm39) |
F34S |
probably damaging |
Het |
| Ndc1 |
A |
G |
4: 107,253,009 (GRCm39) |
T593A |
probably benign |
Het |
| Ndst3 |
C |
T |
3: 123,400,617 (GRCm39) |
V15I |
probably benign |
Het |
| Nup214 |
A |
G |
2: 31,915,313 (GRCm39) |
N1166D |
probably benign |
Het |
| Or1a1 |
A |
G |
11: 74,087,247 (GRCm39) |
H306R |
probably benign |
Het |
| Or2ad1 |
A |
G |
13: 21,326,787 (GRCm39) |
S147P |
probably benign |
Het |
| Or4a68 |
G |
A |
2: 89,270,213 (GRCm39) |
Q137* |
probably null |
Het |
| Or5m8 |
A |
T |
2: 85,823,028 (GRCm39) |
Y289F |
probably damaging |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,780 (GRCm39) |
I486T |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,152 (GRCm39) |
Y768F |
probably benign |
Het |
| Pgf |
A |
G |
12: 85,218,541 (GRCm39) |
S70P |
probably benign |
Het |
| Plcl2 |
G |
A |
17: 50,914,100 (GRCm39) |
A370T |
possibly damaging |
Het |
| Pnkp |
T |
A |
7: 44,511,961 (GRCm39) |
W115R |
probably benign |
Het |
| Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
| Prr12 |
T |
A |
7: 44,678,471 (GRCm39) |
Q1919L |
unknown |
Het |
| Ret |
G |
T |
6: 118,150,519 (GRCm39) |
H666N |
possibly damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,745,184 (GRCm39) |
G864S |
probably damaging |
Het |
| Rpa2 |
T |
G |
4: 132,499,171 (GRCm39) |
I80S |
probably damaging |
Het |
| Ryk |
A |
T |
9: 102,775,674 (GRCm39) |
D428V |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,901,204 (GRCm39) |
N30K |
probably damaging |
Het |
| Stbd1 |
A |
G |
5: 92,752,795 (GRCm39) |
N95S |
probably benign |
Het |
| Tbc1d22a |
A |
G |
15: 86,176,335 (GRCm39) |
E212G |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,427,568 (GRCm39) |
T7A |
probably benign |
Het |
| Tmc8 |
T |
C |
11: 117,683,389 (GRCm39) |
V648A |
possibly damaging |
Het |
| Tmem132b |
G |
T |
5: 125,864,083 (GRCm39) |
V730F |
probably damaging |
Het |
| Tmub2 |
G |
A |
11: 102,178,196 (GRCm39) |
G33D |
possibly damaging |
Het |
| Trak1 |
G |
A |
9: 121,269,745 (GRCm39) |
D124N |
probably damaging |
Het |
| Ttc28 |
A |
T |
5: 111,378,977 (GRCm39) |
Y1154F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,739,713 (GRCm39) |
T3609A |
probably benign |
Het |
| Tulp2 |
A |
G |
7: 45,167,266 (GRCm39) |
T99A |
probably benign |
Het |
| Ugt2a2 |
A |
T |
5: 87,613,427 (GRCm39) |
|
probably null |
Het |
| Ush2a |
G |
A |
1: 188,410,608 (GRCm39) |
V2419I |
probably benign |
Het |
| Vill |
C |
A |
9: 118,899,389 (GRCm39) |
P343Q |
probably damaging |
Het |
| Vmn2r66 |
T |
A |
7: 84,656,062 (GRCm39) |
H318L |
possibly damaging |
Het |
| Wdr3 |
A |
C |
3: 100,049,535 (GRCm39) |
N800K |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,398,922 (GRCm39) |
K19E |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,806,436 (GRCm39) |
S333P |
probably damaging |
Het |
| Zfp418 |
T |
C |
7: 7,185,500 (GRCm39) |
S488P |
possibly damaging |
Het |
| Zfp804a |
A |
G |
2: 82,087,041 (GRCm39) |
E290G |
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation