Incidental Mutation 'R8157:Prag1'
| ID |
633072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| MMRRC Submission |
067583-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8157 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
36561982-36614941 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 36614393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 1315
(C1315Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110492
AA Change: C1315Y
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: C1315Y
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310011J03Rik |
T |
A |
10: 80,155,361 (GRCm39) |
R51W |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,197,453 (GRCm39) |
I326T |
probably benign |
Het |
| Alpk3 |
A |
G |
7: 80,743,470 (GRCm39) |
K1096E |
probably benign |
Het |
| Aph1a |
T |
C |
3: 95,802,150 (GRCm39) |
V44A |
possibly damaging |
Het |
| Ash1l |
T |
A |
3: 88,971,014 (GRCm39) |
|
probably null |
Het |
| Atg2b |
A |
G |
12: 105,629,199 (GRCm39) |
M410T |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,165,936 (GRCm39) |
F228S |
possibly damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,226,753 (GRCm39) |
G407D |
probably benign |
Het |
| Cd200r4 |
T |
A |
16: 44,653,504 (GRCm39) |
N137K |
probably damaging |
Het |
| Clec18a |
A |
G |
8: 111,798,683 (GRCm39) |
L438P |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,768,782 (GRCm39) |
S606P |
probably benign |
Het |
| Col11a2 |
G |
A |
17: 34,280,230 (GRCm39) |
G1193E |
unknown |
Het |
| Col6a4 |
A |
G |
9: 105,945,097 (GRCm39) |
S1006P |
possibly damaging |
Het |
| Ctsc |
A |
T |
7: 87,951,416 (GRCm39) |
D221V |
probably benign |
Het |
| Ctse |
T |
C |
1: 131,600,249 (GRCm39) |
Y333H |
probably damaging |
Het |
| Cyp2c23 |
T |
C |
19: 44,010,066 (GRCm39) |
N93S |
probably benign |
Het |
| Daam1 |
A |
T |
12: 71,999,263 (GRCm39) |
D633V |
probably damaging |
Het |
| Dlg2 |
G |
A |
7: 92,036,140 (GRCm39) |
R607H |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,713,606 (GRCm39) |
D192E |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,001,473 (GRCm39) |
N3838K |
possibly damaging |
Het |
| Ephx2 |
A |
C |
14: 66,345,506 (GRCm39) |
S153A |
probably damaging |
Het |
| Eprs1 |
C |
A |
1: 185,130,591 (GRCm39) |
H651N |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,142,910 (GRCm39) |
D4313G |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,702,714 (GRCm39) |
K252R |
probably benign |
Het |
| Galt |
A |
T |
4: 41,757,226 (GRCm39) |
Q193L |
probably benign |
Het |
| Gm7356 |
T |
C |
17: 14,221,583 (GRCm39) |
K149E |
probably damaging |
Het |
| Gmcl1 |
G |
T |
6: 86,698,408 (GRCm39) |
A163E |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,838,073 (GRCm39) |
R696S |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,178,668 (GRCm39) |
I1088V |
probably benign |
Het |
| Igkv4-68 |
A |
T |
6: 69,282,306 (GRCm39) |
S14R |
probably benign |
Het |
| Lamb2 |
C |
T |
9: 108,357,845 (GRCm39) |
R123W |
probably damaging |
Het |
| Ldlrad4 |
C |
T |
18: 68,387,293 (GRCm39) |
R202* |
probably null |
Het |
| Lrit3 |
T |
C |
3: 129,594,284 (GRCm39) |
T98A |
probably benign |
Het |
| Macc1 |
A |
G |
12: 119,409,728 (GRCm39) |
I165M |
probably benign |
Het |
| Mapre2 |
T |
A |
18: 23,991,218 (GRCm39) |
M162K |
probably benign |
Het |
| Mzf1 |
T |
A |
7: 12,778,279 (GRCm39) |
H454L |
probably damaging |
Het |
| Naa30 |
T |
A |
14: 49,410,865 (GRCm39) |
N264K |
probably benign |
Het |
| Or5ac17 |
A |
G |
16: 59,036,352 (GRCm39) |
V208A |
probably benign |
Het |
| Or8d2 |
T |
A |
9: 38,759,762 (GRCm39) |
Y117* |
probably null |
Het |
| Osr2 |
T |
C |
15: 35,302,063 (GRCm39) |
I221T |
probably benign |
Het |
| Pcdh12 |
A |
T |
18: 38,415,850 (GRCm39) |
I425K |
probably benign |
Het |
| Pcdhb3 |
T |
G |
18: 37,436,292 (GRCm39) |
Y753D |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,208 (GRCm39) |
V734E |
probably damaging |
Het |
| Pibf1 |
T |
A |
14: 99,433,831 (GRCm39) |
L593I |
probably benign |
Het |
| Prl3c1 |
T |
C |
13: 27,383,330 (GRCm39) |
S19P |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,002,539 (GRCm39) |
D1543V |
probably damaging |
Het |
| Ripor2 |
A |
G |
13: 24,879,600 (GRCm39) |
N356S |
probably benign |
Het |
| Rmc1 |
T |
C |
18: 12,321,690 (GRCm39) |
V497A |
possibly damaging |
Het |
| Saxo4 |
A |
T |
19: 10,455,629 (GRCm39) |
F207I |
probably damaging |
Het |
| Scrib |
T |
C |
15: 75,931,037 (GRCm39) |
H914R |
possibly damaging |
Het |
| Sema6b |
G |
A |
17: 56,435,448 (GRCm39) |
A265V |
probably damaging |
Het |
| Tdrd9 |
C |
G |
12: 111,951,500 (GRCm39) |
L97V |
probably benign |
Het |
| Tle7 |
A |
G |
8: 110,835,493 (GRCm39) |
M24V |
probably benign |
Het |
| Trabd |
T |
A |
15: 88,970,024 (GRCm39) |
L340H |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,849,017 (GRCm39) |
W88R |
probably damaging |
Het |
| Txndc12 |
G |
T |
4: 108,710,419 (GRCm39) |
|
probably null |
Het |
| Vmn1r175 |
T |
C |
7: 23,508,523 (GRCm39) |
I35V |
probably benign |
Het |
| Vmn1r48 |
A |
T |
6: 90,012,994 (GRCm39) |
V277E |
probably damaging |
Het |
| Vmn2r72 |
G |
A |
7: 85,400,441 (GRCm39) |
H203Y |
probably benign |
Het |
| Zbtb7c |
A |
G |
18: 76,270,398 (GRCm39) |
E162G |
probably benign |
Het |
| Zfp93 |
T |
A |
7: 23,975,885 (GRCm39) |
C623* |
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,155,285 (GRCm39) |
I645V |
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 |
|
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 |
|
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 |
|
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'- TCTATGAGCTGCTCCACCAG -3'
(R):5'- AAGTTGTAGGAGCTTCAGGGAC -3'
Sequencing Primer
(F):5'- AACCCATTCGAGGTGCG -3'
(R):5'- ACTGCAAGAGGGCCCCTG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation