Incidental Mutation 'R5319:Rgl2'
| ID |
406016 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgl2
|
| Ensembl Gene |
ENSMUSG00000041354 |
| Gene Name |
ral guanine nucleotide dissociation stimulator-like 2 |
| Synonyms |
Rlf, Rgt2, Rab2l, KE1.5 |
| MMRRC Submission |
042902-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R5319 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34152529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 380
(V380A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025161]
[ENSMUST00000047503]
|
| AlphaFold |
Q61193 |
| PDB Structure |
STRUCTURE DETERMINATION OF THE RAS-BINDING DOMAIN OF THE RAL-SPECIFIC GUANINE NUCLEOTIDE EXCHANGE FACTOR RLF, NMR, 10 STRUCTURES [SOLUTION NMR]
The conformation of a docking site for SH3 domains is pre-selected in the Guanine Nucleotide Exchange Factor Rlf [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025161
|
| SMART Domains |
Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
48 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
152 |
N/A |
INTRINSIC |
|
IG
|
168 |
292 |
3.45e0 |
SMART |
|
IG_like
|
302 |
406 |
4.78e1 |
SMART |
|
transmembrane domain
|
416 |
438 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047503
AA Change: V380A
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: V380A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
63 |
N/A |
INTRINSIC |
|
RasGEFN
|
87 |
212 |
9.54e-30 |
SMART |
|
RasGEF
|
239 |
514 |
7.15e-106 |
SMART |
|
low complexity region
|
578 |
592 |
N/A |
INTRINSIC |
|
low complexity region
|
602 |
619 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
648 |
N/A |
INTRINSIC |
|
RA
|
649 |
736 |
2.05e-19 |
SMART |
|
low complexity region
|
737 |
762 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173266
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173284
|
| SMART Domains |
Protein: ENSMUSP00000134312
Gene: ENSMUSG00000041354
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:RasGEF
|
2 |
67 |
1e-35 |
BLAST |
|
PDB:4JGW|B
|
2 |
67 |
1e-35 |
PDB |
|
SCOP:d1bkds_
|
2 |
94 |
3e-16 |
SMART |
|
low complexity region
|
131 |
145 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
RA
|
202 |
289 |
2.05e-19 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174676
|
| Meta Mutation Damage Score |
0.1614 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (69/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930449I24Rik |
T |
C |
5: 146,441,506 (GRCm39) |
S218P |
probably benign |
Het |
| Ahctf1 |
A |
C |
1: 179,596,615 (GRCm39) |
S121A |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,491,479 (GRCm39) |
R174H |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,435,010 (GRCm39) |
|
probably null |
Het |
| Becn1 |
A |
G |
11: 101,179,629 (GRCm39) |
|
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,561,549 (GRCm39) |
Y984C |
probably damaging |
Het |
| Cacna2d4 |
G |
T |
6: 119,324,213 (GRCm39) |
|
probably null |
Het |
| Ccdc14 |
T |
G |
16: 34,543,542 (GRCm39) |
N633K |
probably damaging |
Het |
| Cdk5rap1 |
T |
A |
2: 154,177,489 (GRCm39) |
T577S |
possibly damaging |
Het |
| Clca4b |
T |
C |
3: 144,630,940 (GRCm39) |
R307G |
possibly damaging |
Het |
| Colgalt2 |
A |
G |
1: 152,360,620 (GRCm39) |
Q219R |
possibly damaging |
Het |
| Cops3 |
A |
T |
11: 59,718,762 (GRCm39) |
D177E |
possibly damaging |
Het |
| Cyp2d9 |
T |
C |
15: 82,338,256 (GRCm39) |
Y127H |
probably damaging |
Het |
| Dnajc11 |
A |
G |
4: 152,052,983 (GRCm39) |
T98A |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,265,058 (GRCm39) |
S4757P |
possibly damaging |
Het |
| Dvl2 |
C |
T |
11: 69,898,957 (GRCm39) |
T448I |
possibly damaging |
Het |
| E230016K23Rik |
T |
G |
11: 83,512,496 (GRCm39) |
|
noncoding transcript |
Het |
| Efl1 |
G |
T |
7: 82,323,714 (GRCm39) |
D219Y |
probably damaging |
Het |
| Epha10 |
T |
A |
4: 124,807,793 (GRCm39) |
|
probably benign |
Het |
| Fbxw22 |
T |
A |
9: 109,213,015 (GRCm39) |
T311S |
possibly damaging |
Het |
| Folr1 |
T |
A |
7: 101,513,184 (GRCm39) |
D37V |
probably damaging |
Het |
| Fshb |
T |
A |
2: 106,889,224 (GRCm39) |
I27F |
probably damaging |
Het |
| Gm8521 |
A |
T |
Y: 3,859,335 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr45 |
T |
C |
1: 43,071,998 (GRCm39) |
S214P |
probably damaging |
Het |
| Hgf |
G |
A |
5: 16,771,860 (GRCm39) |
|
probably null |
Het |
| Hs6st1 |
T |
C |
1: 36,143,259 (GRCm39) |
V398A |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,321,646 (GRCm39) |
V371A |
probably damaging |
Het |
| Kif18a |
T |
A |
2: 109,148,370 (GRCm39) |
N621K |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,822,911 (GRCm39) |
F2785S |
probably damaging |
Het |
| Lcor |
G |
A |
19: 41,574,791 (GRCm39) |
G1182D |
probably damaging |
Het |
| Lrriq3 |
T |
C |
3: 154,835,108 (GRCm39) |
I281T |
possibly damaging |
Het |
| Macf1 |
C |
T |
4: 123,367,229 (GRCm39) |
A2511T |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,170,886 (GRCm39) |
D328G |
possibly damaging |
Het |
| Myo1c |
G |
A |
11: 75,552,852 (GRCm39) |
E434K |
possibly damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,205 (GRCm39) |
S387P |
probably damaging |
Het |
| Nr1d2 |
A |
G |
14: 18,215,197 (GRCm38) |
S272P |
probably benign |
Het |
| Nsrp1 |
T |
C |
11: 76,940,293 (GRCm39) |
H104R |
probably damaging |
Het |
| Odf1 |
T |
A |
15: 38,219,863 (GRCm39) |
S64T |
probably benign |
Het |
| Or2aa1 |
A |
T |
11: 59,480,477 (GRCm39) |
V146E |
probably damaging |
Het |
| Or4c106 |
T |
A |
2: 88,683,122 (GRCm39) |
I276K |
probably damaging |
Het |
| Or7g25 |
C |
T |
9: 19,160,329 (GRCm39) |
R122H |
possibly damaging |
Het |
| Pde4b |
C |
A |
4: 102,278,985 (GRCm39) |
|
probably benign |
Het |
| Phox2a |
C |
T |
7: 101,470,057 (GRCm39) |
T96M |
probably damaging |
Het |
| Plg |
A |
G |
17: 12,622,114 (GRCm39) |
E478G |
possibly damaging |
Het |
| Polr3a |
T |
C |
14: 24,505,009 (GRCm39) |
I1084V |
possibly damaging |
Het |
| Ppp1r12c |
T |
A |
7: 4,486,983 (GRCm39) |
T517S |
probably benign |
Het |
| Ptk7 |
C |
T |
17: 46,883,603 (GRCm39) |
V821M |
probably damaging |
Het |
| Ptpn6 |
C |
T |
6: 124,709,913 (GRCm39) |
V2M |
probably benign |
Het |
| Rpl13a-ps1 |
A |
G |
19: 50,018,591 (GRCm39) |
V195A |
possibly damaging |
Het |
| Rsph1 |
C |
A |
17: 31,492,351 (GRCm39) |
V72F |
probably benign |
Het |
| Sh3bp4 |
T |
C |
1: 89,073,072 (GRCm39) |
V640A |
probably benign |
Het |
| Simc1 |
T |
A |
13: 54,672,795 (GRCm39) |
V381E |
probably benign |
Het |
| Slc15a3 |
A |
T |
19: 10,833,296 (GRCm39) |
T438S |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,898,233 (GRCm39) |
V494M |
probably benign |
Het |
| Sos2 |
C |
A |
12: 69,674,058 (GRCm39) |
R335L |
probably benign |
Het |
| Trp53i13 |
A |
T |
11: 77,399,566 (GRCm39) |
N254K |
probably damaging |
Het |
| Trpc6 |
A |
G |
9: 8,609,922 (GRCm39) |
Y130C |
probably damaging |
Het |
| Trpv1 |
A |
G |
11: 73,130,415 (GRCm39) |
I174V |
probably damaging |
Het |
| Tsnax |
T |
A |
8: 125,742,458 (GRCm39) |
D62E |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,806,193 (GRCm39) |
E739D |
probably benign |
Het |
| Vmn1r59 |
T |
A |
7: 5,457,209 (GRCm39) |
I184F |
probably damaging |
Het |
| Yeats2 |
T |
C |
16: 20,005,175 (GRCm39) |
V385A |
probably benign |
Het |
|
| Other mutations in Rgl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Rgl2
|
APN |
17 |
34,152,110 (GRCm39) |
missense |
probably benign |
0.31 |
|
IGL00898:Rgl2
|
APN |
17 |
34,152,392 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL00965:Rgl2
|
APN |
17 |
34,154,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00985:Rgl2
|
APN |
17 |
34,151,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02140:Rgl2
|
APN |
17 |
34,152,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02214:Rgl2
|
APN |
17 |
34,154,163 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02486:Rgl2
|
APN |
17 |
34,154,954 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02579:Rgl2
|
APN |
17 |
34,156,134 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02976:Rgl2
|
APN |
17 |
34,152,936 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Hypotenuse
|
UTSW |
17 |
34,150,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
Pedernales
|
UTSW |
17 |
34,151,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4354001:Rgl2
|
UTSW |
17 |
34,152,914 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0347:Rgl2
|
UTSW |
17 |
34,151,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Rgl2
|
UTSW |
17 |
34,155,823 (GRCm39) |
splice site |
probably null |
|
|
R0825:Rgl2
|
UTSW |
17 |
34,154,133 (GRCm39) |
splice site |
probably null |
|
|
R1742:Rgl2
|
UTSW |
17 |
34,156,197 (GRCm39) |
splice site |
probably null |
|
|
R1777:Rgl2
|
UTSW |
17 |
34,150,718 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1829:Rgl2
|
UTSW |
17 |
34,152,595 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1908:Rgl2
|
UTSW |
17 |
34,151,122 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1961:Rgl2
|
UTSW |
17 |
34,152,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2102:Rgl2
|
UTSW |
17 |
34,152,314 (GRCm39) |
splice site |
probably null |
|
|
R3001:Rgl2
|
UTSW |
17 |
34,151,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3002:Rgl2
|
UTSW |
17 |
34,151,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3755:Rgl2
|
UTSW |
17 |
34,151,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3756:Rgl2
|
UTSW |
17 |
34,151,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3978:Rgl2
|
UTSW |
17 |
34,154,136 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4042:Rgl2
|
UTSW |
17 |
34,156,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4064:Rgl2
|
UTSW |
17 |
34,156,082 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4204:Rgl2
|
UTSW |
17 |
34,155,906 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4661:Rgl2
|
UTSW |
17 |
34,152,200 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4852:Rgl2
|
UTSW |
17 |
34,156,147 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4922:Rgl2
|
UTSW |
17 |
34,151,749 (GRCm39) |
unclassified |
probably benign |
|
|
R5119:Rgl2
|
UTSW |
17 |
34,156,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5167:Rgl2
|
UTSW |
17 |
34,154,948 (GRCm39) |
nonsense |
probably null |
|
|
R5279:Rgl2
|
UTSW |
17 |
34,154,922 (GRCm39) |
missense |
probably benign |
|
|
R5337:Rgl2
|
UTSW |
17 |
34,153,958 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5881:Rgl2
|
UTSW |
17 |
34,151,691 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5945:Rgl2
|
UTSW |
17 |
34,151,012 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6165:Rgl2
|
UTSW |
17 |
34,150,739 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6358:Rgl2
|
UTSW |
17 |
34,156,105 (GRCm39) |
splice site |
probably null |
|
|
R6867:Rgl2
|
UTSW |
17 |
34,151,661 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7174:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7182:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7183:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7184:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7196:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7203:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7253:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7254:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7255:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7256:Rgl2
|
UTSW |
17 |
34,153,964 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7282:Rgl2
|
UTSW |
17 |
34,152,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7455:Rgl2
|
UTSW |
17 |
34,151,657 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7513:Rgl2
|
UTSW |
17 |
34,151,529 (GRCm39) |
missense |
probably benign |
|
|
R7752:Rgl2
|
UTSW |
17 |
34,154,799 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7901:Rgl2
|
UTSW |
17 |
34,154,799 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7941:Rgl2
|
UTSW |
17 |
34,150,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8158:Rgl2
|
UTSW |
17 |
34,155,918 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8209:Rgl2
|
UTSW |
17 |
34,151,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8226:Rgl2
|
UTSW |
17 |
34,151,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8405:Rgl2
|
UTSW |
17 |
34,152,698 (GRCm39) |
nonsense |
probably null |
|
|
R8871:Rgl2
|
UTSW |
17 |
34,153,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Rgl2
|
UTSW |
17 |
34,155,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9591:Rgl2
|
UTSW |
17 |
34,151,451 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
X0028:Rgl2
|
UTSW |
17 |
34,151,432 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACTTCTCCTCAGTGTATGCTG -3'
(R):5'- TTCTCCTCACCAGGTAAGCC -3'
Sequencing Primer
(F):5'- GTTGTGTCCGCTCTGCAGTC -3'
(R):5'- CAGACCTTGGGGCCTTCTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation