Incidental Mutation 'IGL02898:Ralgps2'
ID |
363490 |
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 # |
IGL02898
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
156631736-156767196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 156645314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 514
(K514N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140230
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027886]
[ENSMUST00000063199]
[ENSMUST00000171292]
[ENSMUST00000172057]
[ENSMUST00000185198]
[ENSMUST00000188656]
[ENSMUST00000191605]
[ENSMUST00000189316]
[ENSMUST00000192343]
[ENSMUST00000190648]
|
AlphaFold |
Q9ERD6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027886
AA Change: K488N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000027886 Gene: ENSMUSG00000026594 AA Change: K488N
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 benign
Transcript: ENSMUST00000063199
AA Change: K514N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000063872 Gene: ENSMUSG00000026594 AA Change: K514N
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: ENSMUST00000171292
AA Change: K514N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000130581 Gene: ENSMUSG00000026594 AA Change: K514N
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: K479N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000132533 Gene: ENSMUSG00000026594 AA Change: K479N
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 benign
Transcript: ENSMUST00000185198
AA Change: K514N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000139618 Gene: ENSMUSG00000026594 AA Change: K514N
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000189208
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191605
AA Change: K514N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000139645 Gene: ENSMUSG00000026594 AA Change: K514N
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: ENSMUST00000189316
AA Change: K514N
PolyPhen 2
Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000140230 Gene: ENSMUSG00000026594 AA Change: K514N
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 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 |
|
Predicted Effect |
probably benign
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl5 |
A |
G |
10: 80,178,065 (GRCm39) |
|
probably benign |
Het |
Brd3 |
A |
G |
2: 27,349,753 (GRCm39) |
S267P |
possibly damaging |
Het |
Btaf1 |
A |
G |
19: 36,946,468 (GRCm39) |
T425A |
probably benign |
Het |
Caskin1 |
A |
T |
17: 24,721,383 (GRCm39) |
E544D |
probably benign |
Het |
Col20a1 |
C |
T |
2: 180,630,905 (GRCm39) |
Q58* |
probably null |
Het |
Eif2ak1 |
G |
A |
5: 143,826,270 (GRCm39) |
V428I |
probably damaging |
Het |
Fez2 |
A |
G |
17: 78,692,184 (GRCm39) |
I345T |
probably benign |
Het |
Focad |
A |
T |
4: 88,310,234 (GRCm39) |
M1388L |
probably benign |
Het |
Gfer |
T |
C |
17: 24,914,921 (GRCm39) |
R41G |
probably benign |
Het |
Gm9956 |
C |
T |
10: 56,621,350 (GRCm39) |
S4L |
unknown |
Het |
Krtap6-1 |
G |
A |
16: 88,828,643 (GRCm39) |
G13D |
unknown |
Het |
Megf8 |
A |
G |
7: 25,045,933 (GRCm39) |
E1492G |
possibly damaging |
Het |
Myh7 |
T |
C |
14: 55,221,197 (GRCm39) |
I909V |
probably damaging |
Het |
Or11g25 |
T |
A |
14: 50,723,643 (GRCm39) |
S243T |
probably damaging |
Het |
Or1e21 |
T |
A |
11: 73,344,561 (GRCm39) |
H159L |
probably damaging |
Het |
Otog |
A |
G |
7: 45,959,562 (GRCm39) |
E717G |
probably damaging |
Het |
Pik3r4 |
A |
G |
9: 105,527,605 (GRCm39) |
I319M |
probably benign |
Het |
Piwil4 |
A |
T |
9: 14,617,583 (GRCm39) |
|
probably benign |
Het |
Plekho1 |
T |
A |
3: 95,899,493 (GRCm39) |
H100L |
probably damaging |
Het |
Prr30 |
T |
G |
14: 101,435,917 (GRCm39) |
D215A |
probably benign |
Het |
Prss52 |
C |
T |
14: 64,351,115 (GRCm39) |
A300V |
possibly damaging |
Het |
Robo4 |
T |
C |
9: 37,319,472 (GRCm39) |
I463T |
probably damaging |
Het |
Sars1 |
A |
T |
3: 108,336,579 (GRCm39) |
F268Y |
probably damaging |
Het |
Sidt1 |
C |
T |
16: 44,102,858 (GRCm39) |
R289Q |
possibly damaging |
Het |
Slco1a8 |
T |
A |
6: 141,940,023 (GRCm39) |
Y140F |
probably benign |
Het |
Slco2a1 |
T |
C |
9: 102,956,805 (GRCm39) |
V539A |
probably damaging |
Het |
Snrnp200 |
A |
G |
2: 127,058,676 (GRCm39) |
|
probably benign |
Het |
Spag17 |
A |
G |
3: 100,008,702 (GRCm39) |
D1944G |
probably benign |
Het |
Spata1 |
C |
T |
3: 146,181,094 (GRCm39) |
R288Q |
possibly damaging |
Het |
Tatdn3 |
T |
C |
1: 190,778,507 (GRCm39) |
*233W |
probably null |
Het |
Ttc3 |
T |
A |
16: 94,220,285 (GRCm39) |
V536E |
probably damaging |
Het |
V1rd19 |
A |
C |
7: 23,702,854 (GRCm39) |
T107P |
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 |
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 |
2015-12-18 |