Incidental Mutation 'R6368:Ralgps2'
| ID |
512771 |
| 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 |
044518-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6368 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156631736-156767196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156712144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 147
(L147I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027886]
[ENSMUST00000063199]
[ENSMUST00000171292]
[ENSMUST00000172057]
[ENSMUST00000185198]
[ENSMUST00000188656]
[ENSMUST00000189316]
[ENSMUST00000190648]
[ENSMUST00000191605]
[ENSMUST00000190762]
[ENSMUST00000192343]
|
| AlphaFold |
Q9ERD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027886
AA Change: L147I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000027886
Gene: ENSMUSG00000026594
AA Change: L147I
| 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: L147I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000063872
Gene: ENSMUSG00000026594
AA Change: L147I
| 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: L147I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130581
Gene: ENSMUSG00000026594
AA Change: L147I
| 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: L112I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132533
Gene: ENSMUSG00000026594
AA Change: L112I
| 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: L147I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139618
Gene: ENSMUSG00000026594
AA Change: L147I
| 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 damaging
Transcript: ENSMUST00000188656
AA Change: L147I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140342
Gene: ENSMUSG00000026594
AA Change: L147I
| 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: L147I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140230
Gene: ENSMUSG00000026594
AA Change: L147I
| 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 damaging
Transcript: ENSMUST00000190648
AA Change: L147I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000140055
Gene: ENSMUSG00000026594
AA Change: L147I
| 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: L147I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000139645
Gene: ENSMUSG00000026594
AA Change: L147I
| 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: 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 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: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
C |
A |
9: 55,897,416 (GRCm39) |
E272D |
possibly damaging |
Het |
| Abi2 |
A |
G |
1: 60,492,810 (GRCm39) |
T158A |
possibly damaging |
Het |
| Acacb |
T |
C |
5: 114,354,884 (GRCm39) |
S1221P |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,069,578 (GRCm39) |
D370G |
probably benign |
Het |
| Apeh |
A |
G |
9: 107,964,442 (GRCm39) |
I487T |
probably damaging |
Het |
| Arid1b |
C |
A |
17: 5,382,808 (GRCm39) |
N1297K |
possibly damaging |
Het |
| Ascc3 |
G |
A |
10: 50,576,081 (GRCm39) |
G779S |
probably damaging |
Het |
| Atp7b |
A |
C |
8: 22,510,771 (GRCm39) |
|
probably null |
Het |
| Bsn |
C |
T |
9: 107,988,513 (GRCm39) |
|
probably benign |
Het |
| Caps2 |
C |
T |
10: 112,030,873 (GRCm39) |
Q268* |
probably null |
Het |
| Cnfn |
C |
T |
7: 25,067,386 (GRCm39) |
|
probably null |
Het |
| Cr2 |
A |
G |
1: 194,850,780 (GRCm39) |
S229P |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,435,806 (GRCm39) |
Y1050C |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,480,934 (GRCm39) |
E307G |
probably damaging |
Het |
| Cyb5r3 |
A |
C |
15: 83,044,325 (GRCm39) |
Y182D |
possibly damaging |
Het |
| Dclre1a |
A |
T |
19: 56,535,223 (GRCm39) |
H120Q |
probably benign |
Het |
| Ddx6 |
T |
C |
9: 44,547,073 (GRCm39) |
I457T |
probably damaging |
Het |
| E2f1 |
A |
T |
2: 154,406,396 (GRCm39) |
H93Q |
possibly damaging |
Het |
| Fam186a |
T |
C |
15: 99,841,198 (GRCm39) |
K1682R |
possibly damaging |
Het |
| Farsb |
A |
G |
1: 78,443,602 (GRCm39) |
|
probably null |
Het |
| Flii |
A |
T |
11: 60,611,962 (GRCm39) |
L347Q |
probably damaging |
Het |
| Galntl6 |
T |
G |
8: 59,364,475 (GRCm39) |
T12P |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Gm21680 |
T |
C |
5: 26,174,034 (GRCm39) |
N190S |
probably damaging |
Het |
| Ifit1bl2 |
T |
C |
19: 34,596,525 (GRCm39) |
S364G |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,400,345 (GRCm39) |
I234T |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,526,945 (GRCm39) |
C356R |
probably damaging |
Het |
| Kel |
A |
T |
6: 41,665,785 (GRCm39) |
C174* |
probably null |
Het |
| Krt16 |
T |
A |
11: 100,137,502 (GRCm39) |
D401V |
probably damaging |
Het |
| Ltb4r1 |
A |
C |
14: 56,005,200 (GRCm39) |
I168L |
probably benign |
Het |
| Luzp1 |
T |
A |
4: 136,269,091 (GRCm39) |
M438K |
probably benign |
Het |
| Mtf1 |
C |
T |
4: 124,718,145 (GRCm39) |
T281M |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,832,231 (GRCm39) |
S2587T |
probably benign |
Het |
| Or13a21 |
G |
T |
7: 139,999,580 (GRCm39) |
Y35* |
probably null |
Het |
| Or1ad1 |
T |
A |
11: 50,875,613 (GRCm39) |
F28L |
probably benign |
Het |
| Or4f58 |
A |
T |
2: 111,851,896 (GRCm39) |
I101N |
probably damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,705 (GRCm39) |
D70G |
probably damaging |
Het |
| Pcm1 |
T |
A |
8: 41,746,581 (GRCm39) |
F1221Y |
probably benign |
Het |
| Pnldc1 |
A |
T |
17: 13,124,751 (GRCm39) |
N90K |
probably damaging |
Het |
| Prickle2 |
A |
T |
6: 92,397,218 (GRCm39) |
L169Q |
probably damaging |
Het |
| Rfx3 |
A |
T |
19: 27,746,009 (GRCm39) |
L674Q |
possibly damaging |
Het |
| Rpl3 |
C |
A |
15: 79,966,745 (GRCm39) |
L14F |
probably damaging |
Het |
| Rrbp1 |
C |
T |
2: 143,831,475 (GRCm39) |
G231R |
probably damaging |
Het |
| Sema3d |
C |
T |
5: 12,620,980 (GRCm39) |
L529F |
probably damaging |
Het |
| Slain1 |
A |
T |
14: 103,894,391 (GRCm39) |
T193S |
probably benign |
Het |
| Slc2a6 |
G |
T |
2: 26,914,599 (GRCm39) |
Q256K |
possibly damaging |
Het |
| Slk |
A |
G |
19: 47,608,622 (GRCm39) |
E525G |
possibly damaging |
Het |
| Spsb4 |
G |
T |
9: 96,826,698 (GRCm39) |
Q252K |
probably benign |
Het |
| Taf1b |
A |
G |
12: 24,608,256 (GRCm39) |
T552A |
possibly damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,802,945 (GRCm39) |
|
probably null |
Het |
| Tph2 |
T |
C |
10: 115,015,231 (GRCm39) |
H177R |
probably damaging |
Het |
| Ttll1 |
A |
G |
15: 83,373,818 (GRCm39) |
S332P |
probably damaging |
Het |
| Twf2 |
T |
G |
9: 106,090,032 (GRCm39) |
N128K |
probably benign |
Het |
| Vegfc |
T |
A |
8: 54,634,265 (GRCm39) |
C315S |
probably damaging |
Het |
| Vmn2r111 |
T |
A |
17: 22,790,889 (GRCm39) |
K136N |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,214,814 (GRCm39) |
E496G |
probably damaging |
Het |
| Zfp148 |
C |
A |
16: 33,317,568 (GRCm39) |
Q705K |
probably damaging |
Het |
| Zw10 |
C |
T |
9: 48,984,535 (GRCm39) |
A539V |
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 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- CATTCCCTCAAAAGCTCAGTGC -3'
(R):5'- GACAGTTTCCAAAAGTGACAGTAAC -3'
Sequencing Primer
(F):5'- TGTTGGTTTCAAAGAACAAAGTGC -3'
(R):5'- CCACTGCCTAAATTGTGC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation