Incidental Mutation 'R0164:Ralgps2'
| ID |
24310 |
| 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 |
038440-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0164 (G1)
|
| Quality Score |
225 |
|
Status
|
Not 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 156714659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027886]
[ENSMUST00000063199]
[ENSMUST00000171292]
[ENSMUST00000171292]
[ENSMUST00000172057]
[ENSMUST00000185198]
[ENSMUST00000185198]
[ENSMUST00000188656]
[ENSMUST00000188656]
[ENSMUST00000189316]
[ENSMUST00000189316]
[ENSMUST00000190648]
[ENSMUST00000190648]
[ENSMUST00000190762]
[ENSMUST00000191605]
[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: 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: 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: 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: 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: 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 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 |
0.9478 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
69% (18/26) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,057,789 (GRCm39) |
|
probably benign |
Het |
| 4930522L14Rik |
T |
C |
5: 109,884,713 (GRCm39) |
K382E |
probably damaging |
Het |
| Adck1 |
A |
G |
12: 88,422,280 (GRCm39) |
E297G |
probably damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,139,714 (GRCm39) |
V473I |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,523,663 (GRCm39) |
I369K |
possibly damaging |
Het |
| Atp1b3 |
T |
C |
9: 96,220,762 (GRCm39) |
I178V |
possibly damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,205,956 (GRCm39) |
E520G |
possibly damaging |
Het |
| BB019430 |
A |
T |
10: 58,540,093 (GRCm39) |
|
noncoding transcript |
Het |
| Btbd1 |
T |
A |
7: 81,450,751 (GRCm39) |
Q343L |
probably benign |
Het |
| Catsper1 |
A |
G |
19: 5,389,503 (GRCm39) |
T473A |
possibly damaging |
Het |
| Ccn4 |
T |
C |
15: 66,791,059 (GRCm39) |
L287P |
probably damaging |
Het |
| Chmp6 |
G |
A |
11: 119,806,349 (GRCm39) |
|
probably null |
Het |
| Cstdc7 |
T |
A |
18: 42,306,608 (GRCm39) |
D58E |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,755,195 (GRCm39) |
V200A |
possibly damaging |
Het |
| D830013O20Rik |
C |
T |
12: 73,411,105 (GRCm39) |
|
noncoding transcript |
Het |
| Dcaf1 |
T |
A |
9: 106,721,344 (GRCm39) |
S379T |
possibly damaging |
Het |
| Dhx58 |
T |
C |
11: 100,586,150 (GRCm39) |
I624V |
probably benign |
Het |
| Disp3 |
T |
C |
4: 148,338,708 (GRCm39) |
E821G |
probably damaging |
Het |
| Dlc1 |
T |
A |
8: 37,066,594 (GRCm39) |
E464V |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,860,898 (GRCm39) |
V2151I |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 30,967,639 (GRCm39) |
G2617D |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,809,630 (GRCm39) |
E872* |
probably null |
Het |
| Dock9 |
T |
C |
14: 121,835,077 (GRCm39) |
Y99C |
probably damaging |
Het |
| Dpy19l3 |
T |
A |
7: 35,416,071 (GRCm39) |
I310F |
probably damaging |
Het |
| Fggy |
A |
T |
4: 95,725,891 (GRCm39) |
I137F |
probably damaging |
Het |
| Gm14012 |
C |
T |
2: 128,079,936 (GRCm39) |
|
noncoding transcript |
Het |
| Gm14421 |
A |
T |
2: 176,748,515 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2a |
A |
G |
16: 9,812,685 (GRCm39) |
|
probably null |
Het |
| Incenp |
A |
G |
19: 9,872,243 (GRCm39) |
S72P |
probably benign |
Het |
| Klc3 |
T |
A |
7: 19,128,851 (GRCm39) |
N469Y |
possibly damaging |
Het |
| Lrrc42 |
A |
G |
4: 107,104,702 (GRCm39) |
S88P |
probably benign |
Het |
| Lrrc49 |
G |
A |
9: 60,587,883 (GRCm39) |
T93I |
probably benign |
Het |
| Mlycd |
A |
T |
8: 120,134,380 (GRCm39) |
Q294L |
probably damaging |
Het |
| Mrpl22 |
T |
A |
11: 58,062,647 (GRCm39) |
I19N |
probably benign |
Het |
| Msh3 |
T |
A |
13: 92,485,717 (GRCm39) |
K202N |
probably damaging |
Het |
| Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
| Ncam1 |
C |
T |
9: 49,479,709 (GRCm39) |
D90N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,952,144 (GRCm39) |
D1405E |
possibly damaging |
Het |
| Ncoa2 |
A |
G |
1: 13,256,955 (GRCm39) |
|
probably null |
Het |
| Nlrp1b |
A |
T |
11: 71,054,925 (GRCm39) |
W844R |
probably damaging |
Het |
| Nmnat1 |
G |
T |
4: 149,553,607 (GRCm39) |
N168K |
possibly damaging |
Het |
| Or5b96 |
A |
G |
19: 12,867,809 (GRCm39) |
L44P |
probably damaging |
Het |
| Ost4 |
T |
C |
5: 31,064,803 (GRCm39) |
H26R |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,710,391 (GRCm39) |
I566N |
probably damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,289,004 (GRCm39) |
S282P |
probably damaging |
Het |
| Prkcg |
G |
A |
7: 3,377,635 (GRCm39) |
E581K |
probably damaging |
Het |
| Scmh1 |
T |
C |
4: 120,387,062 (GRCm39) |
|
probably benign |
Het |
| Sgo2b |
T |
C |
8: 64,391,417 (GRCm39) |
H150R |
possibly damaging |
Het |
| Sh2b3 |
T |
G |
5: 121,967,100 (GRCm39) |
T5P |
probably damaging |
Het |
| Tdp2 |
A |
G |
13: 25,022,222 (GRCm39) |
M214V |
probably damaging |
Het |
| Tmem204 |
A |
G |
17: 25,277,324 (GRCm39) |
I187T |
probably damaging |
Het |
| Tmem208 |
T |
G |
8: 106,061,326 (GRCm39) |
D117E |
probably benign |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,565 (GRCm39) |
P631S |
possibly damaging |
Het |
| Tomm70a |
T |
C |
16: 56,968,184 (GRCm39) |
V517A |
probably damaging |
Het |
| Ttc7 |
T |
C |
17: 87,687,323 (GRCm39) |
V801A |
probably damaging |
Het |
| Txndc5 |
A |
T |
13: 38,691,929 (GRCm39) |
C146S |
probably damaging |
Het |
| Ube4b |
G |
T |
4: 149,444,781 (GRCm39) |
T493K |
probably damaging |
Het |
| Ufl1 |
A |
T |
4: 25,256,008 (GRCm39) |
Y504N |
probably benign |
Het |
| Ulk3 |
T |
A |
9: 57,497,969 (GRCm39) |
I90N |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,602,174 (GRCm39) |
I1357M |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vmn2r91 |
A |
C |
17: 18,326,399 (GRCm39) |
N228T |
probably benign |
Het |
| Zbtb6 |
G |
T |
2: 37,319,600 (GRCm39) |
Y109* |
probably null |
Het |
| Zfp640 |
G |
T |
13: 66,819,062 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp640 |
C |
A |
13: 66,819,038 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp980 |
A |
G |
4: 145,428,567 (GRCm39) |
D432G |
probably benign |
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 |
|
|
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 |
|
|
R6777:Ralgps2
|
UTSW |
1 |
156,715,515 (GRCm39) |
critical splice donor 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 |
|
| Posted On |
2013-04-16 |
Incidental Mutation