Incidental Mutation 'R8821:Prag1'
| ID |
673046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| MMRRC Submission |
068654-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8821 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
36561982-36614941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36613891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 1148
(T1148S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110492
AA Change: T1148S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: T1148S
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A230072I06Rik |
A |
T |
8: 12,329,688 (GRCm39) |
I48L |
unknown |
Het |
| Abca8a |
A |
T |
11: 109,949,362 (GRCm39) |
I927K |
probably damaging |
Het |
| Abcc3 |
A |
C |
11: 94,241,787 (GRCm39) |
C1415G |
probably damaging |
Het |
| Abcf3 |
C |
T |
16: 20,369,214 (GRCm39) |
R205C |
probably damaging |
Het |
| Aldh3a1 |
A |
G |
11: 61,107,142 (GRCm39) |
Y282C |
probably damaging |
Het |
| Alyref |
CCCGCGCGGCGGCCTGCACTGCGCCGCCGCGGCCGCCCTGGGAGCCGGCCCTGCCGCG |
CCCGCG |
11: 120,489,023 (GRCm39) |
|
probably null |
Het |
| Arfgef3 |
A |
G |
10: 18,528,491 (GRCm39) |
S299P |
possibly damaging |
Het |
| Asic2 |
A |
T |
11: 81,858,726 (GRCm39) |
N95K |
probably damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,476,033 (GRCm39) |
|
probably null |
Het |
| Btbd18 |
A |
G |
2: 84,497,601 (GRCm39) |
D413G |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,647,874 (GRCm39) |
Y355C |
probably damaging |
Het |
| Carm1 |
A |
G |
9: 21,491,663 (GRCm39) |
E244G |
probably damaging |
Het |
| Castor2 |
T |
A |
5: 134,164,092 (GRCm39) |
V96E |
possibly damaging |
Het |
| Catsperg1 |
A |
T |
7: 28,904,361 (GRCm39) |
|
probably benign |
Het |
| Cish |
T |
A |
9: 107,177,671 (GRCm39) |
F116I |
probably damaging |
Het |
| Ckmt1 |
G |
A |
2: 121,191,302 (GRCm39) |
|
probably benign |
Het |
| Clasrp |
C |
T |
7: 19,320,362 (GRCm39) |
R432H |
unknown |
Het |
| Clstn1 |
G |
A |
4: 149,730,780 (GRCm39) |
R837Q |
probably benign |
Het |
| Col27a1 |
A |
G |
4: 63,143,148 (GRCm39) |
T279A |
probably benign |
Het |
| Cox10 |
A |
G |
11: 63,855,306 (GRCm39) |
F325S |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,430,668 (GRCm39) |
I81V |
probably benign |
Het |
| Ctps1 |
A |
T |
4: 120,424,507 (GRCm39) |
S36T |
possibly damaging |
Het |
| Dchs2 |
T |
C |
3: 83,192,670 (GRCm39) |
L1705P |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,618,185 (GRCm39) |
H198R |
probably benign |
Het |
| Dhx58 |
T |
A |
11: 100,594,806 (GRCm39) |
K30M |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,018,455 (GRCm39) |
A1392T |
probably benign |
Het |
| Dnah14 |
C |
A |
1: 181,619,569 (GRCm39) |
Y3964* |
probably null |
Het |
| Dnah8 |
T |
C |
17: 31,013,712 (GRCm39) |
S3818P |
probably damaging |
Het |
| Dnmt3b |
T |
A |
2: 153,518,734 (GRCm39) |
N632K |
probably benign |
Het |
| Drc7 |
G |
A |
8: 95,788,845 (GRCm39) |
R301Q |
probably damaging |
Het |
| Dsg1a |
T |
C |
18: 20,453,365 (GRCm39) |
V21A |
probably damaging |
Het |
| Dtd1 |
T |
C |
2: 144,459,261 (GRCm39) |
L95P |
probably benign |
Het |
| Efhb |
A |
T |
17: 53,707,772 (GRCm39) |
|
probably benign |
Het |
| Fam186b |
T |
A |
15: 99,178,733 (GRCm39) |
M198L |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,616,374 (GRCm39) |
T850A |
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,004,249 (GRCm39) |
P739L |
probably damaging |
Het |
| Flii |
A |
T |
11: 60,616,074 (GRCm39) |
N28K |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,796,407 (GRCm39) |
Y55C |
probably damaging |
Het |
| Gfi1 |
G |
A |
5: 107,868,138 (GRCm39) |
R377C |
probably damaging |
Het |
| Gm9195 |
C |
T |
14: 72,717,536 (GRCm39) |
E266K |
possibly damaging |
Het |
| Hdac1-ps |
T |
A |
17: 78,799,969 (GRCm39) |
L320Q |
probably damaging |
Het |
| Helz |
A |
T |
11: 107,525,919 (GRCm39) |
M825L |
probably damaging |
Het |
| Hsd3b9 |
A |
T |
3: 98,354,047 (GRCm39) |
W151R |
probably benign |
Het |
| Ift80 |
G |
A |
3: 68,869,583 (GRCm39) |
A236V |
probably damaging |
Het |
| Il1rn |
A |
T |
2: 24,239,505 (GRCm39) |
T134S |
possibly damaging |
Het |
| Imp4 |
T |
C |
1: 34,483,445 (GRCm39) |
M257T |
probably benign |
Het |
| Impdh2 |
T |
C |
9: 108,441,957 (GRCm39) |
L377S |
probably damaging |
Het |
| Kcnrg |
T |
C |
14: 61,844,981 (GRCm39) |
V7A |
possibly damaging |
Het |
| Kdm1b |
C |
A |
13: 47,217,617 (GRCm39) |
L359I |
possibly damaging |
Het |
| Lima1 |
T |
A |
15: 99,704,306 (GRCm39) |
T288S |
probably benign |
Het |
| Lrrc37 |
A |
T |
11: 103,510,470 (GRCm39) |
D499E |
unknown |
Het |
| Lrrc4c |
A |
T |
2: 97,460,040 (GRCm39) |
D222V |
possibly damaging |
Het |
| Mybpc3 |
T |
A |
2: 90,948,524 (GRCm39) |
V4E |
probably null |
Het |
| Ncor1 |
A |
T |
11: 62,260,234 (GRCm39) |
D505E |
probably benign |
Het |
| Nell1 |
A |
G |
7: 50,476,097 (GRCm39) |
S579G |
probably damaging |
Het |
| Npc1 |
T |
A |
18: 12,333,877 (GRCm39) |
M735L |
probably benign |
Het |
| Or1j13 |
G |
A |
2: 36,369,794 (GRCm39) |
T116I |
possibly damaging |
Het |
| Or2at4 |
A |
G |
7: 99,384,893 (GRCm39) |
H181R |
possibly damaging |
Het |
| Or4a73 |
A |
G |
2: 89,420,880 (GRCm39) |
I193T |
probably damaging |
Het |
| Pcdhb12 |
A |
G |
18: 37,570,386 (GRCm39) |
M511V |
probably benign |
Het |
| Peli2 |
G |
A |
14: 48,490,130 (GRCm39) |
E201K |
possibly damaging |
Het |
| Phf3 |
T |
A |
1: 30,860,347 (GRCm39) |
K828* |
probably null |
Het |
| Pih1d1 |
A |
G |
7: 44,806,196 (GRCm39) |
D44G |
possibly damaging |
Het |
| Ptpn18 |
A |
T |
1: 34,511,271 (GRCm39) |
R338W |
probably null |
Het |
| Slc7a6os |
A |
T |
8: 106,937,189 (GRCm39) |
D90E |
probably benign |
Het |
| Sp7 |
T |
A |
15: 102,267,227 (GRCm39) |
H211L |
possibly damaging |
Het |
| Ssh3 |
A |
G |
19: 4,319,053 (GRCm39) |
V19A |
possibly damaging |
Het |
| Tcp11l2 |
A |
G |
10: 84,449,522 (GRCm39) |
I496V |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,729,417 (GRCm39) |
A1530T |
|
Het |
| Tmem232 |
A |
G |
17: 65,743,367 (GRCm39) |
L308P |
probably damaging |
Het |
| Tulp4 |
A |
G |
17: 6,189,409 (GRCm39) |
N77S |
probably damaging |
Het |
| Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
| Usp48 |
A |
T |
4: 137,341,080 (GRCm39) |
D360V |
probably damaging |
Het |
| Vmn2r84 |
G |
A |
10: 130,226,968 (GRCm39) |
A290V |
probably benign |
Het |
| Zfp1007 |
A |
T |
5: 109,824,174 (GRCm39) |
S425R |
probably benign |
Het |
| Zfp512b |
T |
C |
2: 181,228,525 (GRCm39) |
N738S |
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 |
|
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'- ACTTTGTGCGGGACTCTATG -3'
(R):5'- AAACTTGCGGTACTGGGAGG -3'
Sequencing Primer
(F):5'- TTCTGCAGCTCTGCAAC -3'
(R):5'- TGGGAGGCAGACACGATCTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation