Incidental Mutation 'IGL01726:Prag1'
| ID |
105282 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01726
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
36561982-36614941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36570146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 243
(D243G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110492
AA Change: D243G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: D243G
| 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 |
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
C |
3: 89,638,147 (GRCm39) |
|
probably null |
Het |
| Arpc2 |
A |
G |
1: 74,287,338 (GRCm39) |
T53A |
probably benign |
Het |
| Ccdc170 |
C |
A |
10: 4,499,713 (GRCm39) |
L545M |
probably benign |
Het |
| Ccm2l |
T |
C |
2: 152,922,821 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
T |
C |
15: 85,810,391 (GRCm39) |
N2166D |
probably benign |
Het |
| Clca4b |
T |
G |
3: 144,634,103 (GRCm39) |
D104A |
probably damaging |
Het |
| Clcnka |
C |
T |
4: 141,120,051 (GRCm39) |
|
probably null |
Het |
| Clip2 |
A |
T |
5: 134,551,518 (GRCm39) |
N201K |
probably damaging |
Het |
| Cyp1a2 |
G |
A |
9: 57,589,485 (GRCm39) |
L110F |
possibly damaging |
Het |
| Dhtkd1 |
T |
C |
2: 5,947,467 (GRCm39) |
T6A |
unknown |
Het |
| Enthd1 |
A |
C |
15: 80,336,652 (GRCm39) |
L594R |
probably damaging |
Het |
| Espnl |
A |
G |
1: 91,272,626 (GRCm39) |
D618G |
probably benign |
Het |
| Gm6096 |
A |
T |
7: 33,950,904 (GRCm39) |
I148F |
probably damaging |
Het |
| Hsf5 |
C |
T |
11: 87,526,951 (GRCm39) |
T541I |
probably benign |
Het |
| Il18r1 |
A |
G |
1: 40,537,563 (GRCm39) |
S443G |
possibly damaging |
Het |
| Il1a |
T |
C |
2: 129,146,640 (GRCm39) |
D151G |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,754,166 (GRCm39) |
|
probably benign |
Het |
| Kcnh1 |
A |
C |
1: 192,188,164 (GRCm39) |
D875A |
possibly damaging |
Het |
| Naip6 |
T |
A |
13: 100,439,760 (GRCm39) |
I336F |
probably benign |
Het |
| Napepld |
A |
G |
5: 21,880,657 (GRCm39) |
F246S |
possibly damaging |
Het |
| Nova1 |
C |
T |
12: 46,760,280 (GRCm39) |
|
probably null |
Het |
| Nsa2 |
C |
A |
13: 97,268,525 (GRCm39) |
A181S |
probably damaging |
Het |
| Ntn5 |
C |
A |
7: 45,343,671 (GRCm39) |
R337S |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,101,611 (GRCm39) |
S427P |
probably benign |
Het |
| Or52e5 |
A |
G |
7: 104,718,836 (GRCm39) |
E54G |
probably damaging |
Het |
| Pcgf1 |
T |
A |
6: 83,055,867 (GRCm39) |
|
probably null |
Het |
| Pfn4 |
T |
A |
12: 4,824,446 (GRCm39) |
L58I |
probably benign |
Het |
| Plekha1 |
C |
A |
7: 130,499,059 (GRCm39) |
P116Q |
probably damaging |
Het |
| Pou5f2 |
T |
C |
13: 78,173,300 (GRCm39) |
S81P |
possibly damaging |
Het |
| Rbm26 |
G |
A |
14: 105,389,943 (GRCm39) |
P227L |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,394,904 (GRCm39) |
N756K |
probably damaging |
Het |
| Rhou |
A |
T |
8: 124,380,880 (GRCm39) |
T66S |
possibly damaging |
Het |
| Rspo3 |
A |
T |
10: 29,380,704 (GRCm39) |
D103E |
probably benign |
Het |
| Rundc3b |
T |
C |
5: 8,570,902 (GRCm39) |
K306E |
probably benign |
Het |
| Slc25a32 |
A |
G |
15: 38,965,466 (GRCm39) |
|
probably benign |
Het |
| St6galnac2 |
C |
T |
11: 116,575,945 (GRCm39) |
D169N |
probably damaging |
Het |
| Tars3 |
A |
G |
7: 65,332,566 (GRCm39) |
T556A |
possibly damaging |
Het |
| Tmem266 |
A |
G |
9: 55,342,486 (GRCm39) |
K324E |
probably benign |
Het |
| Tnrc6c |
T |
C |
11: 117,640,161 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
A |
T |
15: 72,817,971 (GRCm39) |
S452T |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,717,121 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
T |
G |
12: 85,965,708 (GRCm39) |
I571S |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,797,433 (GRCm39) |
T544A |
probably benign |
Het |
| Ubn1 |
T |
C |
16: 4,891,334 (GRCm39) |
|
probably null |
Het |
| Ubr2 |
C |
A |
17: 47,303,907 (GRCm39) |
|
probably benign |
Het |
| Usp21 |
A |
T |
1: 171,111,574 (GRCm39) |
W360R |
probably damaging |
Het |
| Vmn2r62 |
A |
T |
7: 42,414,526 (GRCm39) |
L639H |
probably damaging |
Het |
| Zc3h7b |
T |
A |
15: 81,656,000 (GRCm39) |
I116N |
possibly damaging |
Het |
| Zfp618 |
C |
T |
4: 63,050,872 (GRCm39) |
T551I |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 7,230,707 (GRCm39) |
|
probably benign |
Het |
| Zkscan8 |
T |
C |
13: 21,704,973 (GRCm39) |
H322R |
probably benign |
Het |
| Zwint |
T |
G |
10: 72,493,019 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation