Incidental Mutation 'R5316:Ralgps2'
| ID |
405819 |
| 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 |
042899-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
156631736-156767196 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 156641067 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 496
(V496E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027886]
[ENSMUST00000063199]
[ENSMUST00000171292]
[ENSMUST00000172057]
[ENSMUST00000185198]
[ENSMUST00000189316]
[ENSMUST00000191605]
[ENSMUST00000192343]
|
| AlphaFold |
Q9ERD6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027886
AA Change: V505E
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027886
Gene: ENSMUSG00000026594
AA Change: V505E
| 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: V531E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000063872
Gene: ENSMUSG00000026594
AA Change: V531E
| 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: V531E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130581
Gene: ENSMUSG00000026594
AA Change: V531E
| 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: V496E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132533
Gene: ENSMUSG00000026594
AA Change: V496E
| 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: V531E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139618
Gene: ENSMUSG00000026594
AA Change: V531E
| 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: ENSMUST00000189208
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189316
|
| SMART Domains |
Protein: ENSMUSP00000140230
Gene: ENSMUSG00000026594
| 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: ENSMUST00000191605
AA Change: V531E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139645
Gene: ENSMUSG00000026594
AA Change: V531E
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
| Agap2 |
G |
A |
10: 126,918,296 (GRCm39) |
|
probably null |
Het |
| Apol10a |
A |
G |
15: 77,372,729 (GRCm39) |
T122A |
probably damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,895,750 (GRCm39) |
A458D |
possibly damaging |
Het |
| Cd80 |
C |
T |
16: 38,294,239 (GRCm39) |
Q41* |
probably null |
Het |
| Cmss1 |
T |
G |
16: 57,122,638 (GRCm39) |
K252T |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,255,779 (GRCm39) |
D122G |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,096,598 (GRCm39) |
D841V |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,262,929 (GRCm39) |
Q4549K |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,967,286 (GRCm39) |
I5275M |
possibly damaging |
Het |
| Epha6 |
A |
G |
16: 59,775,083 (GRCm39) |
L711P |
probably damaging |
Het |
| Gabrg2 |
T |
A |
11: 41,867,385 (GRCm39) |
N78I |
probably damaging |
Het |
| H1f1 |
C |
T |
13: 23,948,085 (GRCm39) |
|
probably benign |
Het |
| Htra3 |
T |
C |
5: 35,821,420 (GRCm39) |
D319G |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,161,750 (GRCm39) |
Y304C |
probably damaging |
Het |
| Kat2a |
G |
T |
11: 100,602,996 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Klhl7 |
C |
T |
5: 24,332,748 (GRCm39) |
A102V |
probably benign |
Het |
| Lamb3 |
A |
G |
1: 193,012,501 (GRCm39) |
H426R |
probably benign |
Het |
| Lemd3 |
C |
A |
10: 120,788,161 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
A |
C |
10: 76,306,760 (GRCm39) |
D291A |
possibly damaging |
Het |
| Micos13 |
G |
A |
17: 56,916,649 (GRCm39) |
S7L |
possibly damaging |
Het |
| Mme |
C |
G |
3: 63,276,375 (GRCm39) |
F717L |
probably damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,169,806 (GRCm39) |
K171* |
probably null |
Het |
| Naip6 |
T |
C |
13: 100,420,290 (GRCm39) |
N1327D |
probably benign |
Het |
| Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,981 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,383,670 (GRCm39) |
M480K |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,110,984 (GRCm39) |
L33Q |
probably damaging |
Het |
| Rbms2 |
G |
A |
10: 127,981,606 (GRCm39) |
P81L |
probably damaging |
Het |
| Scara5 |
T |
C |
14: 65,927,264 (GRCm39) |
S54P |
possibly damaging |
Het |
| Slc18a3 |
T |
C |
14: 32,184,814 (GRCm39) |
D523G |
probably benign |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Srrt |
C |
A |
5: 137,294,813 (GRCm39) |
A747S |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,998,296 (GRCm39) |
D1075N |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,193,992 (GRCm39) |
D1064G |
possibly damaging |
Het |
| Vat1l |
G |
A |
8: 115,011,088 (GRCm39) |
V279I |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,617,410 (GRCm39) |
K156E |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGATCTGGACTACTTGGGC -3'
(R):5'- CCAGTCACACAGCTTATCTCG -3'
Sequencing Primer
(F):5'- GGACTACTTGGGCTTTTAATTCAAGC -3'
(R):5'- AGTCACACAGCTTATCTCGTGTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation