Incidental Mutation 'IGL02406:Ralgps2'
| ID |
292072 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ralgps2
|
| Ensembl Gene |
ENSMUSG00000026594 |
| Gene Name |
Ral GEF with PH domain and SH3 binding motif 2 |
| Synonyms |
1810020P17Rik, 4921528G01Rik, 9130014M22Rik, 2210408F11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
156631736-156767196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 156655838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 362
(A362E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027886]
[ENSMUST00000063199]
[ENSMUST00000171292]
[ENSMUST00000172057]
[ENSMUST00000185198]
[ENSMUST00000188656]
[ENSMUST00000189316]
[ENSMUST00000191605]
[ENSMUST00000190648]
[ENSMUST00000192343]
|
| AlphaFold |
Q9ERD6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027886
AA Change: A362E
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027886
Gene: ENSMUSG00000026594
AA Change: A362E
| 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 |
possibly damaging
Transcript: ENSMUST00000063199
AA Change: A362E
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000063872
Gene: ENSMUSG00000026594
AA Change: A362E
| 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 |
possibly damaging
Transcript: ENSMUST00000171292
AA Change: A362E
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130581
Gene: ENSMUSG00000026594
AA Change: A362E
| 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: ENSMUST00000172057
AA Change: A327E
PolyPhen 2
Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000132533
Gene: ENSMUSG00000026594
AA Change: A327E
| 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 |
possibly damaging
Transcript: ENSMUST00000185198
AA Change: A362E
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139618
Gene: ENSMUSG00000026594
AA Change: A362E
| 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 |
noncoding transcript
Transcript: ENSMUST00000185970
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188656
AA Change: A362E
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140342
Gene: ENSMUSG00000026594
AA Change: A362E
| 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 |
possibly damaging
Transcript: ENSMUST00000189316
AA Change: A362E
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140230
Gene: ENSMUSG00000026594
AA Change: A362E
| 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 |
possibly damaging
Transcript: ENSMUST00000191605
AA Change: A362E
PolyPhen 2
Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139645
Gene: ENSMUSG00000026594
AA Change: A362E
| 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: ENSMUST00000190648
AA Change: A362E
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140055
Gene: ENSMUSG00000026594
AA Change: A362E
| 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 |
noncoding transcript
Transcript: ENSMUST00000191503
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
G |
T |
7: 120,139,825 (GRCm39) |
A1496S |
probably damaging |
Het |
| Abra |
A |
T |
15: 41,732,583 (GRCm39) |
V161E |
probably damaging |
Het |
| Adcy4 |
G |
A |
14: 56,007,504 (GRCm39) |
T942I |
possibly damaging |
Het |
| Atrip |
A |
G |
9: 108,894,487 (GRCm39) |
V480A |
probably damaging |
Het |
| Azin1 |
A |
T |
15: 38,491,809 (GRCm39) |
D382E |
probably benign |
Het |
| BC034090 |
G |
T |
1: 155,100,899 (GRCm39) |
A455E |
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,711,816 (GRCm39) |
Y121C |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,302,654 (GRCm39) |
N268K |
probably damaging |
Het |
| Cpsf7 |
A |
G |
19: 10,509,352 (GRCm39) |
S88G |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2j11 |
G |
A |
4: 96,236,776 (GRCm39) |
A10V |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,827,206 (GRCm39) |
V983A |
probably benign |
Het |
| Dspp |
G |
T |
5: 104,325,232 (GRCm39) |
E532* |
probably null |
Het |
| Ercc4 |
G |
T |
16: 12,941,400 (GRCm39) |
D243Y |
probably damaging |
Het |
| Fars2 |
C |
A |
13: 36,594,145 (GRCm39) |
D383E |
probably benign |
Het |
| Fip1l1 |
A |
G |
5: 74,725,205 (GRCm39) |
T280A |
probably benign |
Het |
| Gcgr |
T |
G |
11: 120,428,010 (GRCm39) |
N292K |
probably damaging |
Het |
| Gtpbp4 |
T |
A |
13: 9,041,786 (GRCm39) |
K85M |
possibly damaging |
Het |
| Jhy |
A |
G |
9: 40,822,285 (GRCm39) |
Y618H |
probably damaging |
Het |
| Mbd4 |
A |
T |
6: 115,825,986 (GRCm39) |
I314N |
possibly damaging |
Het |
| Mbtd1 |
C |
T |
11: 93,799,684 (GRCm39) |
T70M |
probably damaging |
Het |
| Mki67 |
T |
C |
7: 135,300,522 (GRCm39) |
H1504R |
probably benign |
Het |
| Mks1 |
T |
C |
11: 87,753,611 (GRCm39) |
V515A |
probably benign |
Het |
| Msantd2 |
G |
T |
9: 37,434,755 (GRCm39) |
V332L |
probably damaging |
Het |
| Myrip |
A |
T |
9: 120,296,598 (GRCm39) |
T836S |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,993,687 (GRCm39) |
I238V |
probably benign |
Het |
| Plekhh1 |
T |
C |
12: 79,115,783 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,488,399 (GRCm39) |
N507S |
probably benign |
Het |
| Prss12 |
G |
A |
3: 123,299,123 (GRCm39) |
V632I |
possibly damaging |
Het |
| Puf60 |
A |
G |
15: 75,946,458 (GRCm39) |
S121P |
probably damaging |
Het |
| Raet1e |
G |
A |
10: 22,056,535 (GRCm39) |
C37Y |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,156,380 (GRCm39) |
S510P |
possibly damaging |
Het |
| Skap2 |
A |
C |
6: 51,851,453 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
G |
A |
2: 62,021,113 (GRCm39) |
V54M |
probably benign |
Het |
| Spata17 |
A |
G |
1: 186,849,458 (GRCm39) |
|
probably null |
Het |
| Stoml3 |
T |
A |
3: 53,410,671 (GRCm39) |
N128K |
probably damaging |
Het |
| Tatdn2 |
T |
A |
6: 113,681,174 (GRCm39) |
S402R |
probably benign |
Het |
| Tmprss11f |
A |
G |
5: 86,681,525 (GRCm39) |
W243R |
probably damaging |
Het |
| Vmn2r32 |
A |
G |
7: 7,479,709 (GRCm39) |
Y155H |
probably benign |
Het |
| Vmn2r86 |
T |
A |
10: 130,284,508 (GRCm39) |
T528S |
possibly damaging |
Het |
| Zfhx3 |
C |
T |
8: 109,682,374 (GRCm39) |
A3271V |
unknown |
Het |
| Zkscan3 |
T |
C |
13: 21,572,348 (GRCm39) |
N428S |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,375,818 (GRCm39) |
S765G |
probably benign |
Het |
|
| Other mutations in Ralgps2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation