Incidental Mutation 'R6777:Ralgps2'
ID |
531324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ralgps2
|
Ensembl Gene |
ENSMUSG00000026594 |
Gene Name |
Ral GEF with PH domain and SH3 binding motif 2 |
Synonyms |
1810020P17Rik, 4921528G01Rik, 9130014M22Rik, 2210408F11Rik |
MMRRC Submission |
044893-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6777 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
156631736-156767196 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 156715515 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027886]
[ENSMUST00000063199]
[ENSMUST00000171292]
[ENSMUST00000172057]
[ENSMUST00000185198]
[ENSMUST00000188656]
[ENSMUST00000189316]
[ENSMUST00000190648]
[ENSMUST00000190762]
[ENSMUST00000191605]
[ENSMUST00000192343]
|
AlphaFold |
Q9ERD6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000027886
|
SMART Domains |
Protein: ENSMUSP00000027886 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
PH
|
439 |
552 |
1.01e-9 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000063199
|
SMART Domains |
Protein: ENSMUSP00000063872 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
PH
|
465 |
578 |
1.01e-9 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000171292
|
SMART Domains |
Protein: ENSMUSP00000130581 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
PH
|
465 |
578 |
1.01e-9 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000172057
|
SMART Domains |
Protein: ENSMUSP00000132533 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
RasGEF
|
5 |
253 |
1.35e-83 |
SMART |
low complexity region
|
359 |
382 |
N/A |
INTRINSIC |
PH
|
430 |
543 |
1.01e-9 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000185198
|
SMART Domains |
Protein: ENSMUSP00000139618 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
Blast:PH
|
465 |
562 |
3e-55 |
BLAST |
PDB:2DTC|B
|
466 |
551 |
9e-34 |
PDB |
SCOP:d1btn__
|
467 |
546 |
2e-8 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000188656
|
SMART Domains |
Protein: ENSMUSP00000140342 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
RasGEF
|
45 |
288 |
1.4e-93 |
SMART |
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000189316
|
SMART Domains |
Protein: ENSMUSP00000140230 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
PDB:2DTC|B
|
466 |
520 |
6e-16 |
PDB |
SCOP:d1btn__
|
467 |
519 |
1e-6 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000190648
|
SMART Domains |
Protein: ENSMUSP00000140055 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
RasGEF
|
45 |
288 |
1.4e-93 |
SMART |
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000190762
|
SMART Domains |
Protein: ENSMUSP00000139822 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
Pfam:RasGEF
|
46 |
128 |
3e-20 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000191605
|
SMART Domains |
Protein: ENSMUSP00000139645 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
RasGEF
|
45 |
288 |
2.31e-91 |
SMART |
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
PH
|
465 |
578 |
1.01e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192343
|
SMART Domains |
Protein: ENSMUSP00000142004 Gene: ENSMUSG00000026594
Domain | Start | End | E-Value | Type |
SCOP:d1bkds_
|
1 |
70 |
3e-5 |
SMART |
PDB:3QXL|B
|
38 |
71 |
3e-14 |
PDB |
Blast:RasGEF
|
45 |
74 |
1e-11 |
BLAST |
|
Meta Mutation Damage Score |
0.9495 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
A |
T |
7: 12,246,756 (GRCm39) |
L45F |
probably benign |
Het |
Adam7 |
T |
C |
14: 68,762,784 (GRCm39) |
Y147C |
probably damaging |
Het |
Adss2 |
A |
T |
1: 177,603,902 (GRCm39) |
|
probably null |
Het |
Atp2c1 |
T |
A |
9: 105,295,799 (GRCm39) |
I812L |
possibly damaging |
Het |
Capn2 |
A |
G |
1: 182,297,742 (GRCm39) |
|
probably null |
Het |
Crybg3 |
A |
G |
16: 59,378,678 (GRCm39) |
|
probably benign |
Het |
Cux1 |
C |
G |
5: 136,594,422 (GRCm39) |
|
probably benign |
Het |
Dkk2 |
T |
A |
3: 131,879,572 (GRCm39) |
C84S |
probably damaging |
Het |
Eml3 |
T |
C |
19: 8,914,086 (GRCm39) |
V128A |
probably benign |
Het |
Fzr1 |
A |
G |
10: 81,206,327 (GRCm39) |
Y148H |
probably damaging |
Het |
Galnt9 |
G |
A |
5: 110,768,465 (GRCm39) |
R587H |
probably damaging |
Het |
Ganc |
A |
G |
2: 120,274,630 (GRCm39) |
T584A |
probably damaging |
Het |
Gldc |
T |
C |
19: 30,110,912 (GRCm39) |
T564A |
probably damaging |
Het |
Gm49359 |
A |
T |
13: 62,603,006 (GRCm39) |
C65S |
probably benign |
Het |
Hspa12a |
A |
G |
19: 58,810,519 (GRCm39) |
Y175H |
probably benign |
Het |
Ly6g |
A |
G |
15: 75,030,431 (GRCm39) |
D60G |
probably benign |
Het |
Or11j4 |
A |
T |
14: 50,631,115 (GRCm39) |
M301L |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,672,358 (GRCm39) |
C694S |
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,353,446 (GRCm39) |
F676L |
probably benign |
Het |
Pla2g2c |
T |
C |
4: 138,470,976 (GRCm39) |
V119A |
probably benign |
Het |
Rbp3 |
C |
A |
14: 33,676,230 (GRCm39) |
H59Q |
probably benign |
Het |
Serpina3c |
T |
C |
12: 104,118,069 (GRCm39) |
K90E |
probably benign |
Het |
Slc24a3 |
A |
G |
2: 145,482,202 (GRCm39) |
Y620C |
probably damaging |
Het |
Smg1 |
C |
A |
7: 117,788,340 (GRCm39) |
|
probably benign |
Het |
Srp68 |
A |
T |
11: 116,153,730 (GRCm39) |
V198E |
probably damaging |
Het |
Ssx2ip |
C |
T |
3: 146,144,476 (GRCm39) |
T580M |
possibly damaging |
Het |
Terf2 |
A |
G |
8: 107,797,169 (GRCm39) |
V434A |
possibly damaging |
Het |
Tmem242 |
G |
A |
17: 5,483,830 (GRCm39) |
P71S |
probably damaging |
Het |
Tmprss13 |
C |
T |
9: 45,247,399 (GRCm39) |
R254* |
probably null |
Het |
Trgv3 |
A |
G |
13: 19,427,450 (GRCm39) |
Y111C |
probably damaging |
Het |
|
Other mutations in Ralgps2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02406:Ralgps2
|
APN |
1 |
156,655,838 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02669:Ralgps2
|
APN |
1 |
156,660,268 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02898:Ralgps2
|
APN |
1 |
156,645,314 (GRCm39) |
missense |
probably benign |
0.13 |
R0164:Ralgps2
|
UTSW |
1 |
156,714,659 (GRCm39) |
critical splice donor site |
probably null |
|
R0164:Ralgps2
|
UTSW |
1 |
156,714,659 (GRCm39) |
critical splice donor site |
probably null |
|
R0295:Ralgps2
|
UTSW |
1 |
156,651,555 (GRCm39) |
splice site |
probably benign |
|
R0551:Ralgps2
|
UTSW |
1 |
156,660,233 (GRCm39) |
critical splice donor site |
probably null |
|
R1179:Ralgps2
|
UTSW |
1 |
156,729,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R1573:Ralgps2
|
UTSW |
1 |
156,660,500 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2112:Ralgps2
|
UTSW |
1 |
156,660,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R4832:Ralgps2
|
UTSW |
1 |
156,684,637 (GRCm39) |
intron |
probably benign |
|
R5316:Ralgps2
|
UTSW |
1 |
156,641,067 (GRCm39) |
missense |
probably damaging |
0.99 |
R5762:Ralgps2
|
UTSW |
1 |
156,660,234 (GRCm39) |
critical splice donor site |
probably null |
|
R6368:Ralgps2
|
UTSW |
1 |
156,712,144 (GRCm39) |
missense |
probably damaging |
1.00 |
R6572:Ralgps2
|
UTSW |
1 |
156,651,620 (GRCm39) |
splice site |
probably null |
|
R7165:Ralgps2
|
UTSW |
1 |
156,655,818 (GRCm39) |
missense |
probably benign |
0.05 |
R7866:Ralgps2
|
UTSW |
1 |
156,714,738 (GRCm39) |
missense |
probably benign |
0.00 |
R7879:Ralgps2
|
UTSW |
1 |
156,656,636 (GRCm39) |
missense |
probably benign |
|
R8284:Ralgps2
|
UTSW |
1 |
156,655,718 (GRCm39) |
missense |
probably benign |
0.03 |
R8329:Ralgps2
|
UTSW |
1 |
156,712,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R8339:Ralgps2
|
UTSW |
1 |
156,649,008 (GRCm39) |
missense |
probably null |
0.08 |
R8448:Ralgps2
|
UTSW |
1 |
156,651,744 (GRCm39) |
splice site |
probably null |
|
R9334:Ralgps2
|
UTSW |
1 |
156,715,599 (GRCm39) |
missense |
probably damaging |
1.00 |
X0020:Ralgps2
|
UTSW |
1 |
156,647,462 (GRCm39) |
missense |
possibly damaging |
0.64 |
Z1176:Ralgps2
|
UTSW |
1 |
156,656,645 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGATGTCTTTGAATTCAATGAAGCCC -3'
(R):5'- TGTTCCAGAAAAGAACATACGC -3'
Sequencing Primer
(F):5'- CCCGAGATTGATCCCAAGAAGTTTG -3'
(R):5'- AGAAAAGAACATACGCAGTCTTTAC -3'
|
Posted On |
2018-08-29 |