Incidental Mutation 'R7213:Prag1'
| ID |
561213 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| MMRRC Submission |
045341-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7213 (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 36613769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1107
(Q1107L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110492
AA Change: Q1107L
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: Q1107L
| 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 |
0.3418 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
99% (80/81) |
| 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 |
|---|
| 2010315B03Rik |
G |
T |
9: 124,056,530 (GRCm39) |
Y131* |
probably null |
Het |
| 2310009B15Rik |
A |
T |
1: 138,781,367 (GRCm39) |
V94D |
probably damaging |
Het |
| Actr1b |
T |
A |
1: 36,741,221 (GRCm39) |
N120I |
probably damaging |
Het |
| Adam17 |
A |
T |
12: 21,386,679 (GRCm39) |
Y452* |
probably null |
Het |
| Adam19 |
A |
T |
11: 46,012,298 (GRCm39) |
T265S |
probably benign |
Het |
| Adgrb1 |
A |
G |
15: 74,441,733 (GRCm39) |
T945A |
probably benign |
Het |
| Bpifa5 |
G |
A |
2: 154,007,903 (GRCm39) |
V182M |
possibly damaging |
Het |
| Celsr3 |
C |
T |
9: 108,726,239 (GRCm39) |
T3156I |
probably damaging |
Het |
| Cntrl |
A |
G |
2: 35,025,692 (GRCm39) |
M674V |
possibly damaging |
Het |
| Cry2 |
C |
T |
2: 92,244,004 (GRCm39) |
V390I |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,454,475 (GRCm39) |
F174I |
|
Het |
| Cwc25 |
G |
T |
11: 97,644,855 (GRCm39) |
Q168K |
probably benign |
Het |
| Dcbld2 |
C |
T |
16: 58,271,126 (GRCm39) |
A301V |
probably benign |
Het |
| Dclre1a |
T |
C |
19: 56,518,067 (GRCm39) |
Y1004C |
probably damaging |
Het |
| Ddhd1 |
A |
C |
14: 45,895,210 (GRCm39) |
S87A |
probably benign |
Het |
| Ear1 |
A |
G |
14: 44,056,611 (GRCm39) |
C86R |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,381,782 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
T |
11: 55,171,871 (GRCm39) |
Y2947* |
probably null |
Het |
| Fat4 |
G |
A |
3: 39,053,236 (GRCm39) |
V4077M |
possibly damaging |
Het |
| Fbxl12 |
A |
T |
9: 20,550,304 (GRCm39) |
V140E |
probably damaging |
Het |
| Fbxo16 |
A |
G |
14: 65,536,868 (GRCm39) |
|
probably null |
Het |
| Fto |
A |
T |
8: 92,118,135 (GRCm39) |
Q29L |
probably benign |
Het |
| Gk5 |
C |
T |
9: 96,027,765 (GRCm39) |
T200M |
probably damaging |
Het |
| Gm5916 |
C |
T |
9: 36,039,946 (GRCm39) |
G14E |
possibly damaging |
Het |
| Gm9972 |
A |
T |
11: 42,927,235 (GRCm39) |
|
probably benign |
Het |
| Gpr139 |
T |
A |
7: 118,744,322 (GRCm39) |
M88L |
probably benign |
Het |
| Gpr26 |
T |
C |
7: 131,569,219 (GRCm39) |
L188P |
probably damaging |
Het |
| H2ac4 |
G |
T |
13: 23,935,146 (GRCm39) |
A11S |
unknown |
Het |
| Hbp1 |
A |
T |
12: 31,987,196 (GRCm39) |
S219T |
probably benign |
Het |
| Hr |
A |
T |
14: 70,795,790 (GRCm39) |
E445V |
probably damaging |
Het |
| Il12rb1 |
A |
G |
8: 71,269,097 (GRCm39) |
K426E |
probably benign |
Het |
| Itgbl1 |
G |
A |
14: 124,210,709 (GRCm39) |
C469Y |
probably damaging |
Het |
| Kdm2b |
A |
T |
5: 123,059,532 (GRCm39) |
N523K |
probably damaging |
Het |
| Kptn |
A |
G |
7: 15,854,704 (GRCm39) |
N125S |
possibly damaging |
Het |
| Krt17 |
T |
C |
11: 100,149,356 (GRCm39) |
N238S |
probably benign |
Het |
| Lemd3 |
G |
A |
10: 120,814,145 (GRCm39) |
R363* |
probably null |
Het |
| Mmrn1 |
G |
A |
6: 60,921,527 (GRCm39) |
|
probably benign |
Het |
| Mtus1 |
T |
C |
8: 41,537,524 (GRCm39) |
D64G |
probably damaging |
Het |
| Muc16 |
A |
G |
9: 18,552,712 (GRCm39) |
V4527A |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,323,991 (GRCm39) |
D193V |
probably damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,360,645 (GRCm39) |
H1462R |
probably benign |
Het |
| Or2n1b |
T |
C |
17: 38,459,965 (GRCm39) |
V162A |
probably benign |
Het |
| Or5ak20 |
A |
T |
2: 85,183,900 (GRCm39) |
Y123* |
probably null |
Het |
| Pappa2 |
T |
A |
1: 158,764,456 (GRCm39) |
T352S |
possibly damaging |
Het |
| Pcnt |
A |
G |
10: 76,244,738 (GRCm39) |
L1114P |
probably damaging |
Het |
| Pde6b |
T |
C |
5: 108,551,956 (GRCm39) |
Y212H |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,805,990 (GRCm39) |
I604F |
|
Het |
| Pld2 |
A |
G |
11: 70,444,198 (GRCm39) |
D498G |
probably benign |
Het |
| Pwp1 |
A |
T |
10: 85,712,173 (GRCm39) |
I110F |
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,981 (GRCm39) |
V218I |
probably benign |
Het |
| Rnf10 |
C |
T |
5: 115,380,532 (GRCm39) |
S754N |
probably damaging |
Het |
| Rnf10 |
T |
C |
5: 115,380,533 (GRCm39) |
S754G |
probably damaging |
Het |
| Sel1l2 |
A |
T |
2: 140,086,055 (GRCm39) |
V512E |
probably damaging |
Het |
| Shank2 |
T |
A |
7: 143,585,146 (GRCm39) |
M49K |
probably benign |
Het |
| Sipa1 |
T |
C |
19: 5,710,551 (GRCm39) |
D153G |
probably damaging |
Het |
| Slc46a2 |
C |
T |
4: 59,914,279 (GRCm39) |
V215I |
possibly damaging |
Het |
| Slco6c1 |
G |
A |
1: 97,055,671 (GRCm39) |
L77F |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,624,531 (GRCm39) |
L397P |
possibly damaging |
Het |
| Spg7 |
C |
T |
8: 123,816,971 (GRCm39) |
A554V |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,865,630 (GRCm39) |
M1753L |
probably benign |
Het |
| Stk11 |
A |
G |
10: 79,952,452 (GRCm39) |
M1V |
probably null |
Het |
| Supt6 |
C |
A |
11: 78,122,976 (GRCm39) |
G136C |
probably damaging |
Het |
| Svil |
G |
T |
18: 5,094,574 (GRCm39) |
R1418L |
probably damaging |
Het |
| Tfg |
A |
G |
16: 56,521,516 (GRCm39) |
S167P |
probably benign |
Het |
| Timeless |
T |
C |
10: 128,079,158 (GRCm39) |
V335A |
probably benign |
Het |
| Tll2 |
C |
A |
19: 41,108,666 (GRCm39) |
R328L |
probably damaging |
Het |
| Tomm7 |
T |
C |
5: 24,049,059 (GRCm39) |
S5G |
possibly damaging |
Het |
| Ttc39c |
G |
A |
18: 12,820,138 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,556,105 (GRCm39) |
E30300G |
probably benign |
Het |
| Tuba4a |
A |
T |
1: 75,192,341 (GRCm39) |
D452E |
possibly damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,587,927 (GRCm39) |
I233V |
probably benign |
Het |
| Tubgcp5 |
T |
A |
7: 55,455,860 (GRCm39) |
V296E |
probably damaging |
Het |
| Vmn2r53 |
T |
C |
7: 12,334,983 (GRCm39) |
S226G |
probably benign |
Het |
| Xrcc6 |
T |
C |
15: 81,901,027 (GRCm39) |
|
probably benign |
Het |
| Zfhx4 |
C |
A |
3: 5,461,704 (GRCm39) |
D1192E |
probably benign |
Het |
| Zfp180 |
G |
T |
7: 23,803,938 (GRCm39) |
W119L |
possibly damaging |
Het |
| Zfp3 |
A |
G |
11: 70,663,351 (GRCm39) |
I437V |
probably benign |
Het |
| Zfp616 |
A |
T |
11: 73,976,689 (GRCm39) |
Q986L |
probably benign |
Het |
| Zfp937 |
T |
A |
2: 150,081,385 (GRCm39) |
C472S |
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 |
|
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 |
|
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'- AAGACTGCGGCCACTTTGTG -3'
(R):5'- GGAAGTTGCTGATGATGAGCC -3'
Sequencing Primer
(F):5'- GTGCCCTCCAGCATGCTTG -3'
(R):5'- CTGATGATGAGCCTGGGCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation