Incidental Mutation 'R1820:Prag1'
| ID |
204789 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prag1
|
| Ensembl Gene |
ENSMUSG00000050271 |
| Gene Name |
PEAK1 related kinase activating pseudokinase 1 |
| Synonyms |
D8Ertd82e, NACK |
| MMRRC Submission |
039848-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1820 (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 G
at 36570958 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 514
(T514A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106118
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110492]
|
| AlphaFold |
Q571I4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110492
AA Change: T514A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000106118
Gene: ENSMUSG00000050271
AA Change: T514A
| 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: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
C |
12: 71,197,018 (GRCm39) |
V197A |
possibly damaging |
Het |
| 9230109A22Rik |
T |
C |
15: 25,139,176 (GRCm39) |
|
noncoding transcript |
Het |
| Acbd3 |
A |
G |
1: 180,572,703 (GRCm39) |
N321S |
probably benign |
Het |
| Actr3b |
T |
C |
5: 26,054,156 (GRCm39) |
|
probably null |
Het |
| Aldh5a1 |
T |
C |
13: 25,111,555 (GRCm39) |
D124G |
probably benign |
Het |
| Arhgap35 |
G |
A |
7: 16,295,874 (GRCm39) |
R1064W |
possibly damaging |
Het |
| Arhgef9 |
T |
A |
X: 94,125,142 (GRCm39) |
I225F |
probably damaging |
Het |
| Arl16 |
T |
C |
11: 120,357,587 (GRCm39) |
T43A |
probably damaging |
Het |
| Camsap3 |
T |
C |
8: 3,653,485 (GRCm39) |
W409R |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,885,655 (GRCm39) |
H320L |
probably damaging |
Het |
| Chac2 |
T |
A |
11: 30,927,496 (GRCm39) |
N141I |
probably damaging |
Het |
| Chtf18 |
C |
A |
17: 25,944,913 (GRCm39) |
G211C |
probably damaging |
Het |
| Cplane1 |
A |
G |
15: 8,299,129 (GRCm39) |
K3106E |
unknown |
Het |
| Cwf19l1 |
T |
A |
19: 44,115,826 (GRCm39) |
Y201F |
probably benign |
Het |
| Dcun1d1 |
A |
T |
3: 35,973,153 (GRCm39) |
L114* |
probably null |
Het |
| Fdps |
A |
T |
3: 89,002,350 (GRCm39) |
H249Q |
probably benign |
Het |
| Fhip1a |
T |
A |
3: 85,573,136 (GRCm39) |
T938S |
probably damaging |
Het |
| Gabrg1 |
T |
A |
5: 70,931,756 (GRCm39) |
Y329F |
probably damaging |
Het |
| Kctd8 |
T |
A |
5: 69,497,684 (GRCm39) |
I321F |
probably damaging |
Het |
| Kdm5b |
G |
T |
1: 134,525,408 (GRCm39) |
R299L |
possibly damaging |
Het |
| Kif23 |
T |
C |
9: 61,833,720 (GRCm39) |
T494A |
possibly damaging |
Het |
| Kmt2e |
A |
G |
5: 23,678,545 (GRCm39) |
H208R |
probably damaging |
Het |
| Lipo5 |
A |
T |
19: 33,441,995 (GRCm39) |
|
probably null |
Het |
| Lrrc28 |
G |
T |
7: 67,290,859 (GRCm39) |
T54K |
probably damaging |
Het |
| Luc7l2 |
G |
A |
6: 38,575,754 (GRCm39) |
|
probably null |
Het |
| Man2a2 |
A |
G |
7: 80,008,681 (GRCm39) |
F899L |
probably benign |
Het |
| Myo9b |
T |
C |
8: 71,786,002 (GRCm39) |
I633T |
probably damaging |
Het |
| Nynrin |
A |
T |
14: 56,107,835 (GRCm39) |
I981F |
possibly damaging |
Het |
| Or5an1c |
A |
T |
19: 12,218,612 (GRCm39) |
S138T |
probably damaging |
Het |
| Or8g28 |
A |
G |
9: 39,169,695 (GRCm39) |
I91T |
possibly damaging |
Het |
| Pank1 |
A |
G |
19: 34,855,084 (GRCm39) |
|
probably null |
Het |
| Phc2 |
C |
T |
4: 128,637,336 (GRCm39) |
A47V |
probably damaging |
Het |
| Plekhs1 |
A |
G |
19: 56,466,954 (GRCm39) |
R262G |
possibly damaging |
Het |
| Pnp2 |
C |
A |
14: 51,201,914 (GRCm39) |
P300Q |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,849,780 (GRCm39) |
S345T |
possibly damaging |
Het |
| Psmd5 |
T |
C |
2: 34,760,758 (GRCm39) |
|
probably null |
Het |
| Rfx6 |
T |
G |
10: 51,599,221 (GRCm39) |
|
probably null |
Het |
| Rhbdd2 |
G |
A |
5: 135,664,903 (GRCm39) |
C78Y |
probably damaging |
Het |
| Rnf157 |
G |
T |
11: 116,245,477 (GRCm39) |
P313T |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,602,202 (GRCm39) |
L4560P |
probably damaging |
Het |
| Scai |
A |
T |
2: 38,996,990 (GRCm39) |
M268K |
possibly damaging |
Het |
| Scd3 |
A |
T |
19: 44,230,245 (GRCm39) |
T343S |
probably benign |
Het |
| Scimp |
A |
T |
11: 70,682,423 (GRCm39) |
S98T |
probably benign |
Het |
| Sfrp2 |
A |
G |
3: 83,680,461 (GRCm39) |
N207S |
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,475 (GRCm39) |
Y1200C |
probably damaging |
Het |
| Sp1 |
T |
A |
15: 102,317,511 (GRCm39) |
S343R |
possibly damaging |
Het |
| Spata31d1a |
A |
T |
13: 59,849,069 (GRCm39) |
C1020S |
possibly damaging |
Het |
| Spink5 |
A |
G |
18: 44,122,486 (GRCm39) |
N317S |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,776,624 (GRCm39) |
D224G |
probably damaging |
Het |
| St8sia3 |
T |
C |
18: 64,402,703 (GRCm39) |
I114T |
probably damaging |
Het |
| Zscan5b |
C |
A |
7: 6,242,162 (GRCm39) |
H460Q |
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 |
|
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'- CACCATCACTGTCATCGCTG -3'
(R):5'- ACACTTGGCAGAGTCACCAG -3'
Sequencing Primer
(F):5'- TGCTCACCCGGAAGAGGAC -3'
(R):5'- GCAACGCCATTGGTGTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation