Incidental Mutation 'R1974:Prag1'
| ID |
221417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| MMRRC Submission |
039987-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1974 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
36561982-36614941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36570081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 221
(D221E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110492
AA Change: D221E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: D221E
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145386
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150295
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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 |
A |
3: 137,773,028 (GRCm39) |
L739Q |
probably damaging |
Het |
| 4933436I01Rik |
A |
T |
X: 66,963,655 (GRCm39) |
Y401* |
probably null |
Het |
| Abcg3 |
A |
G |
5: 105,111,504 (GRCm39) |
V321A |
probably benign |
Het |
| Acad10 |
C |
A |
5: 121,764,248 (GRCm39) |
V894L |
possibly damaging |
Het |
| Adam9 |
A |
G |
8: 25,482,240 (GRCm39) |
I255T |
probably damaging |
Het |
| Ago3 |
T |
C |
4: 126,240,544 (GRCm39) |
Y785C |
probably damaging |
Het |
| Aif1 |
G |
A |
17: 35,391,127 (GRCm39) |
P44L |
probably benign |
Het |
| Akap4 |
A |
G |
X: 6,943,595 (GRCm39) |
S633G |
probably benign |
Het |
| Alox15 |
T |
A |
11: 70,240,799 (GRCm39) |
T194S |
probably benign |
Het |
| Amh |
T |
C |
10: 80,642,250 (GRCm39) |
S207P |
probably benign |
Het |
| Apc |
T |
A |
18: 34,433,057 (GRCm39) |
C415S |
possibly damaging |
Het |
| Atg14 |
G |
A |
14: 47,783,298 (GRCm39) |
R346C |
probably damaging |
Het |
| Atp5mf |
A |
T |
5: 145,121,389 (GRCm39) |
L64Q |
probably damaging |
Het |
| Barhl2 |
C |
G |
5: 106,605,179 (GRCm39) |
E177Q |
probably benign |
Het |
| C1qtnf5 |
T |
C |
9: 44,020,072 (GRCm39) |
V232A |
probably damaging |
Het |
| Calr |
T |
C |
8: 85,570,786 (GRCm39) |
I290V |
probably benign |
Het |
| Cdh19 |
G |
C |
1: 110,817,889 (GRCm39) |
Q618E |
possibly damaging |
Het |
| Celsr2 |
G |
T |
3: 108,321,530 (GRCm39) |
D427E |
probably damaging |
Het |
| Cep250 |
T |
C |
2: 155,831,424 (GRCm39) |
S1294P |
probably damaging |
Het |
| Chrna7 |
T |
A |
7: 62,749,034 (GRCm39) |
T483S |
probably damaging |
Het |
| Clmn |
A |
T |
12: 104,758,121 (GRCm39) |
W132R |
probably damaging |
Het |
| Cpsf2 |
G |
A |
12: 101,956,306 (GRCm39) |
D370N |
probably benign |
Het |
| Crnn |
T |
C |
3: 93,056,594 (GRCm39) |
V460A |
probably benign |
Het |
| Daam1 |
T |
A |
12: 72,035,703 (GRCm39) |
I957N |
probably damaging |
Het |
| Defb9 |
T |
C |
8: 22,371,905 (GRCm39) |
K36R |
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,488,143 (GRCm39) |
I2007F |
possibly damaging |
Het |
| Dpm1 |
A |
T |
2: 168,059,667 (GRCm39) |
V143D |
probably damaging |
Het |
| Dync1h1 |
T |
C |
12: 110,592,166 (GRCm39) |
V1110A |
possibly damaging |
Het |
| Erlec1 |
T |
G |
11: 30,889,604 (GRCm39) |
K373N |
possibly damaging |
Het |
| Fbxo40 |
C |
T |
16: 36,790,303 (GRCm39) |
G269E |
probably benign |
Het |
| Fbxw7 |
T |
A |
3: 84,862,242 (GRCm39) |
C70S |
possibly damaging |
Het |
| Fhip2a |
T |
C |
19: 57,373,809 (GRCm39) |
F690L |
probably damaging |
Het |
| Fnbp1 |
G |
T |
2: 30,943,059 (GRCm39) |
R280S |
probably null |
Het |
| Gapvd1 |
G |
A |
2: 34,590,853 (GRCm39) |
R940C |
probably damaging |
Het |
| Gfod2 |
T |
C |
8: 106,444,142 (GRCm39) |
K134E |
possibly damaging |
Het |
| Gpi1 |
A |
T |
7: 33,920,228 (GRCm39) |
|
probably null |
Het |
| Grik2 |
A |
T |
10: 49,008,923 (GRCm39) |
N721K |
possibly damaging |
Het |
| Gsn |
G |
T |
2: 35,191,483 (GRCm39) |
G455V |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Hpse |
A |
G |
5: 100,840,104 (GRCm39) |
S338P |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,449,371 (GRCm39) |
C376R |
probably damaging |
Het |
| Inf2 |
A |
G |
12: 112,574,771 (GRCm39) |
T781A |
unknown |
Het |
| Iscu |
A |
G |
5: 113,915,079 (GRCm39) |
|
probably benign |
Het |
| Kcna4 |
G |
A |
2: 107,126,565 (GRCm39) |
G433D |
possibly damaging |
Het |
| Kir3dl2 |
T |
A |
X: 135,357,024 (GRCm39) |
N146I |
probably benign |
Het |
| Klrg1 |
T |
A |
6: 122,259,721 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Krt82 |
T |
G |
15: 101,453,597 (GRCm39) |
Q263P |
probably benign |
Het |
| Mfrp |
T |
C |
9: 44,017,669 (GRCm39) |
C554R |
probably damaging |
Het |
| Minar1 |
T |
G |
9: 89,483,256 (GRCm39) |
T714P |
probably damaging |
Het |
| Mst1r |
T |
C |
9: 107,791,962 (GRCm39) |
Y833H |
probably damaging |
Het |
| Mst1r |
T |
A |
9: 107,793,132 (GRCm39) |
|
probably null |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nipal4 |
T |
C |
11: 46,042,210 (GRCm39) |
N157S |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 97,980,071 (GRCm39) |
G195D |
probably damaging |
Het |
| Nrcam |
A |
T |
12: 44,610,776 (GRCm39) |
H492L |
probably benign |
Het |
| Or10aa1 |
A |
T |
1: 173,870,154 (GRCm39) |
I213F |
probably damaging |
Het |
| Or4p21 |
A |
T |
2: 88,276,853 (GRCm39) |
I143N |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,828,811 (GRCm39) |
R817H |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,614,110 (GRCm39) |
E447G |
probably benign |
Het |
| Pdp2 |
T |
C |
8: 105,320,538 (GRCm39) |
V129A |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,069,410 (GRCm39) |
F1072S |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 31,563,095 (GRCm39) |
D102G |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,769,011 (GRCm39) |
D662E |
probably benign |
Het |
| Ptprn |
T |
C |
1: 75,231,464 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
G |
6: 22,986,310 (GRCm39) |
D370G |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,590,886 (GRCm39) |
S1637P |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,403,696 (GRCm39) |
H642L |
probably benign |
Het |
| Slc30a5 |
A |
T |
13: 100,950,461 (GRCm39) |
F209I |
probably benign |
Het |
| Slc4a3 |
G |
T |
1: 75,528,835 (GRCm39) |
E508* |
probably null |
Het |
| Stpg2 |
C |
T |
3: 139,014,944 (GRCm39) |
R370* |
probably null |
Het |
| Tas2r113 |
T |
A |
6: 132,870,796 (GRCm39) |
F275I |
probably benign |
Het |
| Tmem132d |
T |
G |
5: 128,346,263 (GRCm39) |
K86N |
probably damaging |
Het |
| Tpgs2 |
A |
T |
18: 25,273,593 (GRCm39) |
F189L |
probably damaging |
Het |
| Trmt6 |
A |
G |
2: 132,652,968 (GRCm39) |
S104P |
probably damaging |
Het |
| Trpv3 |
T |
C |
11: 73,174,514 (GRCm39) |
S294P |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,228,727 (GRCm39) |
|
probably null |
Het |
| Vmn1r170 |
A |
T |
7: 23,305,906 (GRCm39) |
M103L |
probably benign |
Het |
| Vmn2r107 |
T |
A |
17: 20,575,879 (GRCm39) |
|
probably null |
Het |
| Vmn2r5 |
C |
T |
3: 64,411,642 (GRCm39) |
E309K |
probably damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,449,964 (GRCm39) |
V70A |
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 |
|
|
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 |
PCR Primer
(F):5'- AACCAGTGAGCTTCCAGGAAG -3'
(R):5'- CCTCAGAGTTAAGGGATGGC -3'
Sequencing Primer
(F):5'- CTTCCAGGAAGAGAAGGCTG -3'
(R):5'- GGGAAGCTCAGACCCTGTTTTTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation