Incidental Mutation 'R7866:Ralgps2'
| ID |
607755 |
| 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 |
045918-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7866 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156631736-156767196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 156714738 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 104
(V104I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063872
(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 benign
Transcript: ENSMUST00000027886
AA Change: V104I
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000027886
Gene: ENSMUSG00000026594
AA Change: V104I
| 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: V104I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000063872
Gene: ENSMUSG00000026594
AA Change: V104I
| 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: V104I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000130581
Gene: ENSMUSG00000026594
AA Change: V104I
| 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: V69I
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000132533
Gene: ENSMUSG00000026594
AA Change: V69I
| 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: V104I
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000139618
Gene: ENSMUSG00000026594
AA Change: V104I
| 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
AA Change: V104I
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000140342
Gene: ENSMUSG00000026594
AA Change: V104I
| 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 benign
Transcript: ENSMUST00000189316
AA Change: V104I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000140230
Gene: ENSMUSG00000026594
AA Change: V104I
| 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: ENSMUST00000190648
AA Change: V104I
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000140055
Gene: ENSMUSG00000026594
AA Change: V104I
| 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 benign
Transcript: ENSMUST00000190762
AA Change: V104I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139822
Gene: ENSMUSG00000026594
AA Change: V104I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
37 |
N/A |
INTRINSIC |
|
Pfam:RasGEF
|
46 |
128 |
3e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191605
AA Change: V104I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000139645
Gene: ENSMUSG00000026594
AA Change: V104I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg1 |
C |
T |
17: 31,317,269 (GRCm39) |
R194* |
probably null |
Het |
| Actl6a |
A |
G |
3: 32,766,262 (GRCm39) |
T39A |
possibly damaging |
Het |
| Adamts6 |
T |
A |
13: 104,550,257 (GRCm39) |
C624* |
probably null |
Het |
| Adgrl1 |
T |
C |
8: 84,664,564 (GRCm39) |
|
probably null |
Het |
| Ap3m2 |
A |
G |
8: 23,289,674 (GRCm39) |
V143A |
probably benign |
Het |
| Ap5m1 |
T |
C |
14: 49,311,218 (GRCm39) |
V96A |
probably damaging |
Het |
| Aqp5 |
T |
A |
15: 99,489,424 (GRCm39) |
V91E |
probably damaging |
Het |
| Atp6v0b |
A |
T |
4: 117,742,350 (GRCm39) |
I181N |
probably damaging |
Het |
| Ccp110 |
T |
A |
7: 118,322,241 (GRCm39) |
M632K |
probably benign |
Het |
| Cd44 |
A |
T |
2: 102,672,604 (GRCm39) |
|
probably null |
Het |
| Cidea |
G |
A |
18: 67,491,854 (GRCm39) |
R38Q |
probably damaging |
Het |
| Cnn3 |
T |
C |
3: 121,245,042 (GRCm39) |
I86T |
probably benign |
Het |
| Col14a1 |
C |
A |
15: 55,252,016 (GRCm39) |
D557E |
unknown |
Het |
| Col6a6 |
T |
C |
9: 105,566,760 (GRCm39) |
Y2245C |
probably damaging |
Het |
| Dhrs4 |
A |
T |
14: 55,725,092 (GRCm39) |
N196Y |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 31,093,901 (GRCm39) |
V4665A |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,716,113 (GRCm39) |
T267A |
|
Het |
| Dtx3l |
T |
A |
16: 35,759,120 (GRCm39) |
Q43L |
probably benign |
Het |
| Ednrb |
A |
G |
14: 104,080,738 (GRCm39) |
S59P |
probably benign |
Het |
| Eml4 |
A |
G |
17: 83,758,126 (GRCm39) |
T435A |
probably benign |
Het |
| Fam135b |
A |
T |
15: 71,333,925 (GRCm39) |
F1090I |
probably benign |
Het |
| Filip1 |
A |
G |
9: 79,726,225 (GRCm39) |
V798A |
probably benign |
Het |
| Fnip1 |
T |
G |
11: 54,356,228 (GRCm39) |
|
probably benign |
Het |
| Gabrb2 |
C |
T |
11: 42,378,050 (GRCm39) |
Q89* |
probably null |
Het |
| Gtf2ird1 |
A |
T |
5: 134,392,063 (GRCm39) |
V882E |
probably benign |
Het |
| Gucy1a2 |
T |
A |
9: 3,532,804 (GRCm39) |
M1K |
probably null |
Het |
| Ift70b |
A |
G |
2: 75,766,963 (GRCm39) |
S597P |
possibly damaging |
Het |
| Igkv10-96 |
T |
A |
6: 68,609,025 (GRCm39) |
D90V |
possibly damaging |
Het |
| Igkv4-54 |
G |
A |
6: 69,608,740 (GRCm39) |
R60C |
probably benign |
Het |
| Igkv7-33 |
G |
T |
6: 70,035,847 (GRCm39) |
A45D |
probably damaging |
Het |
| Klk1b22 |
A |
T |
7: 43,762,168 (GRCm39) |
I15F |
possibly damaging |
Het |
| Lamp3 |
T |
A |
16: 19,518,490 (GRCm39) |
D249V |
probably benign |
Het |
| Lrrfip2 |
T |
C |
9: 111,022,149 (GRCm39) |
V125A |
possibly damaging |
Het |
| Mprip |
G |
A |
11: 59,643,756 (GRCm39) |
R638H |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,349,589 (GRCm39) |
M501V |
probably benign |
Het |
| Myo5a |
C |
T |
9: 75,111,034 (GRCm39) |
P1509S |
probably damaging |
Het |
| Ngdn |
A |
G |
14: 55,258,554 (GRCm39) |
Y63C |
probably damaging |
Het |
| Oit3 |
A |
G |
10: 59,259,852 (GRCm39) |
V517A |
probably benign |
Het |
| Or8g21 |
A |
T |
9: 38,906,027 (GRCm39) |
S235T |
not run |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,512 (GRCm39) |
F281I |
probably damaging |
Het |
| Pkd1 |
C |
A |
17: 24,809,881 (GRCm39) |
Q3520K |
probably benign |
Het |
| Plxnb1 |
T |
A |
9: 108,929,525 (GRCm39) |
I127N |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,655,390 (GRCm39) |
N319I |
probably damaging |
Het |
| Pxn |
T |
C |
5: 115,686,665 (GRCm39) |
S386P |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,417,924 (GRCm39) |
V1063I |
probably benign |
Het |
| Slc10a5 |
A |
T |
3: 10,399,532 (GRCm39) |
F376Y |
probably damaging |
Het |
| Snd1 |
T |
A |
6: 28,527,724 (GRCm39) |
I277N |
probably damaging |
Het |
| Spc25 |
A |
G |
2: 69,036,406 (GRCm39) |
|
probably null |
Het |
| Tex29 |
A |
G |
8: 11,894,055 (GRCm39) |
N6D |
unknown |
Het |
| Top6bl |
T |
A |
19: 4,748,514 (GRCm39) |
R61S |
unknown |
Het |
| Ttc6 |
G |
A |
12: 57,721,435 (GRCm39) |
A975T |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,320,560 (GRCm39) |
E13G |
probably damaging |
Het |
| Ugcg |
T |
G |
4: 59,211,927 (GRCm39) |
C98G |
possibly damaging |
Het |
| Ugt2b36 |
T |
A |
5: 87,240,190 (GRCm39) |
D65V |
probably damaging |
Het |
| Unc93b1 |
A |
T |
19: 3,985,243 (GRCm39) |
D17V |
not run |
Het |
| Usf1 |
G |
T |
1: 171,245,462 (GRCm39) |
W291C |
unknown |
Het |
| Vps29 |
T |
C |
5: 122,500,180 (GRCm39) |
W97R |
possibly damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,577 (GRCm39) |
E117G |
probably damaging |
Het |
| Zfp735 |
A |
C |
11: 73,601,629 (GRCm39) |
D191A |
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 |
|
|
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 |
|
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'- CGTTCAATGTACTCAACAGGC -3'
(R):5'- GGGCTTCATTGAATTCAAAGACATC -3'
Sequencing Primer
(F):5'- AACAGGCCTTATTTTCTAGGACC -3'
(R):5'- ATTGAACTCAGGTCCTCTGGAAG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation