Incidental Mutation 'IGL02669:Ralgps2'
ID |
302852 |
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 # |
IGL02669
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
156631736-156767196 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 156660268 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 268
(E268G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139645
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027886]
[ENSMUST00000063199]
[ENSMUST00000171292]
[ENSMUST00000172057]
[ENSMUST00000185198]
[ENSMUST00000188656]
[ENSMUST00000191605]
[ENSMUST00000190648]
[ENSMUST00000189316]
[ENSMUST00000192343]
|
AlphaFold |
Q9ERD6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027886
AA Change: E268G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000027886 Gene: ENSMUSG00000026594 AA Change: E268G
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 damaging
Transcript: ENSMUST00000063199
AA Change: E268G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000063872 Gene: ENSMUSG00000026594 AA Change: E268G
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 damaging
Transcript: ENSMUST00000171292
AA Change: E268G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000130581 Gene: ENSMUSG00000026594 AA Change: E268G
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 damaging
Transcript: ENSMUST00000172057
AA Change: E233G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132533 Gene: ENSMUSG00000026594 AA Change: E233G
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 damaging
Transcript: ENSMUST00000185198
AA Change: E268G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139618 Gene: ENSMUSG00000026594 AA Change: E268G
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 damaging
Transcript: ENSMUST00000188656
AA Change: E268G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140342 Gene: ENSMUSG00000026594 AA Change: E268G
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 damaging
Transcript: ENSMUST00000191605
AA Change: E268G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139645 Gene: ENSMUSG00000026594 AA Change: E268G
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 damaging
Transcript: ENSMUST00000190648
AA Change: E268G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140055 Gene: ENSMUSG00000026594 AA Change: E268G
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 damaging
Transcript: ENSMUST00000189316
AA Change: E268G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140230 Gene: ENSMUSG00000026594 AA Change: E268G
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 |
noncoding transcript
Transcript: ENSMUST00000190758
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191503
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189622
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930003A15Rik |
T |
A |
16: 19,702,505 (GRCm39) |
|
noncoding transcript |
Het |
Acap1 |
G |
A |
11: 69,785,421 (GRCm39) |
|
probably benign |
Het |
Adam7 |
T |
C |
14: 68,745,343 (GRCm39) |
Y627C |
probably damaging |
Het |
Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
Aoc1l2 |
A |
G |
6: 48,908,407 (GRCm39) |
Y469C |
probably damaging |
Het |
Bace2 |
T |
C |
16: 97,238,093 (GRCm39) |
*515R |
probably null |
Het |
Baiap3 |
C |
T |
17: 25,463,322 (GRCm39) |
V958M |
probably damaging |
Het |
Brms1l |
A |
T |
12: 55,888,401 (GRCm39) |
D63V |
probably damaging |
Het |
Cnksr1 |
A |
T |
4: 133,957,774 (GRCm39) |
I435N |
probably damaging |
Het |
Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
Cpne6 |
A |
G |
14: 55,751,283 (GRCm39) |
N201S |
probably benign |
Het |
Dnajc12 |
A |
G |
10: 63,233,071 (GRCm39) |
S71G |
probably damaging |
Het |
Dpp3 |
A |
T |
19: 4,973,710 (GRCm39) |
|
probably null |
Het |
E2f3 |
A |
G |
13: 30,100,974 (GRCm39) |
S239P |
probably benign |
Het |
Eif3e |
T |
A |
15: 43,146,088 (GRCm39) |
M1L |
probably benign |
Het |
Erap1 |
A |
G |
13: 74,823,987 (GRCm39) |
T867A |
probably benign |
Het |
Erlin1 |
G |
T |
19: 44,027,658 (GRCm39) |
A260E |
probably damaging |
Het |
Esrp1 |
A |
G |
4: 11,386,324 (GRCm39) |
V38A |
possibly damaging |
Het |
Foxn1 |
T |
C |
11: 78,261,986 (GRCm39) |
R128G |
probably damaging |
Het |
Gnb3 |
A |
G |
6: 124,814,688 (GRCm39) |
L70P |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,802,806 (GRCm39) |
V1139A |
probably damaging |
Het |
Gpt2 |
G |
T |
8: 86,249,908 (GRCm39) |
M463I |
probably benign |
Het |
Gtpbp3 |
C |
A |
8: 71,943,546 (GRCm39) |
A201D |
probably damaging |
Het |
Jaml |
A |
C |
9: 45,015,489 (GRCm39) |
K331T |
possibly damaging |
Het |
Kntc1 |
G |
A |
5: 123,893,727 (GRCm39) |
|
probably benign |
Het |
Ksr2 |
A |
G |
5: 117,693,446 (GRCm39) |
K298R |
probably damaging |
Het |
Mfge8 |
T |
C |
7: 78,795,429 (GRCm39) |
D46G |
probably benign |
Het |
Ncam2 |
T |
A |
16: 81,314,429 (GRCm39) |
N468K |
probably benign |
Het |
Nup88 |
A |
G |
11: 70,847,110 (GRCm39) |
M300T |
probably damaging |
Het |
Or4c118 |
T |
A |
2: 88,974,564 (GRCm39) |
K268* |
probably null |
Het |
Or4k48 |
A |
T |
2: 111,476,236 (GRCm39) |
Y35* |
probably null |
Het |
Or52b4 |
A |
G |
7: 102,184,868 (GRCm39) |
M305V |
probably benign |
Het |
Prdm1 |
A |
T |
10: 44,315,880 (GRCm39) |
M752K |
probably benign |
Het |
Prl3b1 |
A |
T |
13: 27,429,795 (GRCm39) |
M78L |
probably benign |
Het |
Rgs11 |
G |
A |
17: 26,426,605 (GRCm39) |
V279I |
probably benign |
Het |
Slc4a5 |
A |
G |
6: 83,240,525 (GRCm39) |
D279G |
possibly damaging |
Het |
Tanc1 |
T |
A |
2: 59,630,330 (GRCm39) |
I770K |
probably damaging |
Het |
Tbl2 |
G |
A |
5: 135,181,852 (GRCm39) |
R64H |
probably damaging |
Het |
Tg |
T |
A |
15: 66,620,575 (GRCm39) |
|
probably benign |
Het |
Tmprss13 |
A |
T |
9: 45,243,824 (GRCm39) |
I187F |
probably benign |
Het |
Tubb3 |
T |
C |
8: 124,147,856 (GRCm39) |
L263P |
probably damaging |
Het |
Vmn2r109 |
T |
G |
17: 20,774,518 (GRCm39) |
D279A |
possibly damaging |
Het |
Vps33b |
A |
G |
7: 79,925,786 (GRCm39) |
|
probably benign |
Het |
Yeats2 |
A |
G |
16: 20,005,033 (GRCm39) |
S338G |
probably benign |
Het |
Zfp142 |
T |
C |
1: 74,610,432 (GRCm39) |
Q1121R |
probably benign |
Het |
Zic1 |
G |
T |
9: 91,246,486 (GRCm39) |
H195Q |
possibly 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 |
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 |