Incidental Mutation 'R1660:Prag1'
| ID |
186669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| MMRRC Submission |
039696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1660 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
36561982-36614941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 36607177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 973
(T973S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110492
AA Change: T973S
PolyPhen 2
Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: T973S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
A |
19: 31,870,507 (GRCm39) |
S3* |
probably null |
Het |
| Adgrv1 |
C |
T |
13: 81,624,750 (GRCm39) |
V3740I |
probably benign |
Het |
| Aida |
T |
C |
1: 183,079,127 (GRCm39) |
F22S |
probably damaging |
Het |
| Ankrd65 |
A |
T |
4: 155,876,528 (GRCm39) |
D220V |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,123,209 (GRCm39) |
C279* |
probably null |
Het |
| Ap3b1 |
T |
C |
13: 94,545,320 (GRCm39) |
V191A |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,117,884 (GRCm39) |
K595E |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,608,305 (GRCm39) |
T98A |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,014,427 (GRCm39) |
S116T |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,656,582 (GRCm39) |
F429S |
possibly damaging |
Het |
| Ckap5 |
C |
A |
2: 91,393,303 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Cntn4 |
T |
A |
6: 106,656,258 (GRCm39) |
I853K |
probably benign |
Het |
| Cyp2g1 |
G |
A |
7: 26,509,107 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
C |
T |
17: 80,553,157 (GRCm39) |
V1257I |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,306 (GRCm39) |
V1038D |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,358,314 (GRCm39) |
S462T |
possibly damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,177,183 (GRCm39) |
E180D |
probably benign |
Het |
| Exoc3l |
A |
G |
8: 106,019,692 (GRCm39) |
|
probably null |
Het |
| Fam210a |
T |
C |
18: 68,409,167 (GRCm39) |
T48A |
probably benign |
Het |
| Fbxw5 |
G |
A |
2: 25,393,286 (GRCm39) |
|
probably null |
Het |
| Fkbp9 |
T |
C |
6: 56,850,434 (GRCm39) |
C437R |
probably damaging |
Het |
| Gpc5 |
A |
G |
14: 115,636,691 (GRCm39) |
K458R |
probably benign |
Het |
| Grik2 |
C |
A |
10: 49,120,439 (GRCm39) |
G56* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,238,706 (GRCm39) |
T492A |
probably damaging |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Lrrc51 |
T |
C |
7: 101,562,645 (GRCm39) |
Y145C |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,849,029 (GRCm39) |
I682F |
possibly damaging |
Het |
| Mttp |
A |
T |
3: 137,808,954 (GRCm39) |
V718D |
probably damaging |
Het |
| Myt1l |
T |
A |
12: 29,945,272 (GRCm39) |
D1012E |
unknown |
Het |
| Nbn |
G |
A |
4: 15,971,771 (GRCm39) |
G301D |
probably benign |
Het |
| Ncstn |
T |
A |
1: 171,894,339 (GRCm39) |
S677C |
possibly damaging |
Het |
| Nod1 |
C |
A |
6: 54,921,218 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
A |
G |
1: 170,342,206 (GRCm39) |
V52A |
possibly damaging |
Het |
| Or51f2 |
T |
G |
7: 102,526,863 (GRCm39) |
Y179D |
probably damaging |
Het |
| Or52z14 |
T |
A |
7: 103,252,882 (GRCm39) |
L7* |
probably null |
Het |
| Or5b98 |
T |
A |
19: 12,931,055 (GRCm39) |
I34N |
probably damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
| Phf13 |
T |
C |
4: 152,076,962 (GRCm39) |
I77V |
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,207,825 (GRCm39) |
K230E |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,642,535 (GRCm39) |
L469P |
probably damaging |
Het |
| Prpf40b |
C |
A |
15: 99,203,442 (GRCm39) |
H101Q |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,691,557 (GRCm39) |
V287A |
possibly damaging |
Het |
| Rbm25 |
C |
T |
12: 83,714,924 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
T |
C |
19: 7,246,337 (GRCm39) |
V4A |
probably damaging |
Het |
| Rnf180 |
T |
C |
13: 105,407,499 (GRCm39) |
T17A |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,340,440 (GRCm39) |
V179E |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,446,458 (GRCm39) |
S2835T |
probably damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,199,432 (GRCm39) |
H363L |
probably damaging |
Het |
| Setd1a |
T |
C |
7: 127,395,841 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
A |
C |
15: 9,125,201 (GRCm39) |
V126G |
probably benign |
Het |
| Snph |
G |
A |
2: 151,436,398 (GRCm39) |
Q108* |
probably null |
Het |
| Snrpa1 |
T |
A |
7: 65,719,246 (GRCm39) |
V144E |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,248 (GRCm39) |
E65G |
probably damaging |
Het |
| Tmem201 |
A |
T |
4: 149,804,032 (GRCm39) |
Y468N |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,687,580 (GRCm39) |
N388S |
possibly damaging |
Het |
| Tssk4 |
A |
G |
14: 55,888,029 (GRCm39) |
Q75R |
probably null |
Het |
| Tuba4a |
T |
C |
1: 75,192,547 (GRCm39) |
N356D |
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,477 (GRCm39) |
D230V |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,648,261 (GRCm39) |
V4622A |
probably benign |
Het |
| Vmn2r11 |
T |
G |
5: 109,201,724 (GRCm39) |
Y260S |
possibly damaging |
Het |
| Vmn2r89 |
C |
A |
14: 51,693,693 (GRCm39) |
H348N |
possibly damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,988 (GRCm39) |
M714L |
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,275,329 (GRCm39) |
S221P |
probably benign |
Het |
| Zfp418 |
A |
G |
7: 7,184,789 (GRCm39) |
T251A |
probably benign |
Het |
| Zmynd15 |
A |
G |
11: 70,354,328 (GRCm39) |
Y267C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTTTGTGCCCATGACGAGCC -3'
(R):5'- AGTAGCCCGCCAAAACTTGGAG -3'
Sequencing Primer
(F):5'- GTTCCTTGAACTCTGGAAACCG -3'
(R):5'- CCAAAACTTGGAGAGGTGGG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation