Incidental Mutation 'R6127:Prag1'
ID |
487450 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prag1
|
Ensembl Gene |
ENSMUSG00000050271 |
Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
Synonyms |
D8Ertd82e, NACK |
MMRRC Submission |
044274-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6127 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
36561982-36614941 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 36614555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 1369
(L1369P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
AlphaFold |
Q571I4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000110492
AA Change: L1369P
|
SMART Domains |
Protein: ENSMUSP00000106118 Gene: ENSMUSG00000050271 AA Change: L1369P
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 |
0.2150 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (49/50) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700003F12Rik |
A |
G |
2: 154,391,509 (GRCm39) |
E92G |
probably damaging |
Het |
4931429L15Rik |
T |
A |
9: 46,220,220 (GRCm39) |
D104V |
probably damaging |
Het |
Actl9 |
T |
C |
17: 33,652,354 (GRCm39) |
V138A |
probably benign |
Het |
Agl |
T |
A |
3: 116,551,978 (GRCm39) |
I1204F |
probably damaging |
Het |
Akna |
G |
T |
4: 63,286,356 (GRCm39) |
T1381N |
possibly damaging |
Het |
Atm |
A |
C |
9: 53,435,809 (GRCm39) |
L167W |
probably damaging |
Het |
Atp2b2 |
C |
T |
6: 113,790,838 (GRCm39) |
E189K |
probably damaging |
Het |
Bend7 |
A |
G |
2: 4,768,088 (GRCm39) |
D348G |
probably damaging |
Het |
Cactin |
G |
A |
10: 81,160,143 (GRCm39) |
R412H |
possibly damaging |
Het |
Carmil1 |
T |
C |
13: 24,220,335 (GRCm39) |
T726A |
probably benign |
Het |
Csmd3 |
T |
A |
15: 47,513,624 (GRCm39) |
I2829F |
probably damaging |
Het |
Ddx50 |
A |
T |
10: 62,457,342 (GRCm39) |
|
probably null |
Het |
Epha5 |
T |
G |
5: 84,218,953 (GRCm39) |
K937N |
probably damaging |
Het |
Fblim1 |
G |
A |
4: 141,312,033 (GRCm39) |
R231C |
probably damaging |
Het |
Fuca1 |
T |
A |
4: 135,662,122 (GRCm39) |
I350N |
probably damaging |
Het |
Hagh |
G |
T |
17: 25,079,978 (GRCm39) |
M152I |
probably damaging |
Het |
Hexd |
T |
C |
11: 121,107,825 (GRCm39) |
V185A |
possibly damaging |
Het |
Ireb2 |
A |
G |
9: 54,789,652 (GRCm39) |
T109A |
probably benign |
Het |
Kcnh2 |
A |
G |
5: 24,530,001 (GRCm39) |
Y702H |
probably damaging |
Het |
Leng1 |
G |
A |
7: 3,665,866 (GRCm39) |
P157L |
probably damaging |
Het |
Maea |
C |
T |
5: 33,492,862 (GRCm39) |
|
probably benign |
Het |
Mertk |
G |
T |
2: 128,580,211 (GRCm39) |
V222F |
probably damaging |
Het |
Mroh2a |
T |
C |
1: 88,162,334 (GRCm39) |
|
probably null |
Het |
Muc13 |
G |
A |
16: 33,619,317 (GRCm39) |
A22T |
unknown |
Het |
Muc16 |
T |
A |
9: 18,569,174 (GRCm39) |
H1115L |
unknown |
Het |
Or2y1d |
C |
A |
11: 49,321,633 (GRCm39) |
T110K |
probably damaging |
Het |
Or5ae2 |
T |
A |
7: 84,506,410 (GRCm39) |
L278M |
probably damaging |
Het |
Or5l13 |
T |
A |
2: 87,779,705 (GRCm39) |
S291C |
probably damaging |
Het |
Or6c69 |
A |
G |
10: 129,747,284 (GRCm39) |
Y288H |
probably damaging |
Het |
Pak5 |
G |
A |
2: 135,929,326 (GRCm39) |
P619L |
probably damaging |
Het |
Pcdh17 |
A |
G |
14: 84,770,500 (GRCm39) |
K993E |
probably damaging |
Het |
Pcdhga3 |
A |
T |
18: 37,807,757 (GRCm39) |
Q70L |
probably damaging |
Het |
Pcdhgb5 |
C |
A |
18: 37,865,932 (GRCm39) |
R576S |
probably damaging |
Het |
Pold1 |
T |
C |
7: 44,191,545 (GRCm39) |
Y147C |
probably damaging |
Het |
Psg29 |
T |
A |
7: 16,945,671 (GRCm39) |
F414I |
probably benign |
Het |
Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,419,534 (GRCm39) |
S526I |
possibly damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Setd7 |
G |
A |
3: 51,437,502 (GRCm39) |
T251I |
probably damaging |
Het |
Slc25a41 |
T |
A |
17: 57,341,914 (GRCm39) |
Y145F |
probably damaging |
Het |
Stag1 |
T |
C |
9: 100,833,750 (GRCm39) |
V1121A |
probably benign |
Het |
Svip |
T |
C |
7: 51,653,201 (GRCm39) |
T38A |
probably benign |
Het |
Tacc2 |
A |
T |
7: 130,227,845 (GRCm39) |
H1510L |
possibly damaging |
Het |
Trav19 |
A |
G |
14: 54,082,999 (GRCm39) |
T25A |
probably benign |
Het |
Trip4 |
A |
T |
9: 65,773,752 (GRCm39) |
|
probably null |
Het |
Tulp1 |
T |
A |
17: 28,575,124 (GRCm39) |
H447L |
probably benign |
Het |
Vmn1r200 |
A |
T |
13: 22,579,373 (GRCm39) |
T59S |
probably benign |
Het |
Vmn2r51 |
A |
T |
7: 9,839,558 (GRCm39) |
L10H |
probably damaging |
Het |
Wee2 |
T |
C |
6: 40,426,701 (GRCm39) |
Y157H |
probably damaging |
Het |
Xrn1 |
T |
C |
9: 95,851,542 (GRCm39) |
S187P |
probably damaging |
Het |
Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
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 |
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'- GGTACTGTGTAACACTCTGCAC -3'
(R):5'- GTACATAATCACAGGGGTGGCG -3'
Sequencing Primer
(F):5'- TGTGTAACACTCTGCACAACTGG -3'
(R):5'- CTGGCGTGTGTGAAATGACATCC -3'
|
Posted On |
2017-10-10 |