Incidental Mutation 'R4661:Rgl2'
| ID |
352893 |
| 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 |
041600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R4661 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 34152200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 329
(A329V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000047503
AA Change: A329V
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: A329V
| 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: ENSMUST00000172653
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173153
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173258
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173266
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174410
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173379
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
C |
9: 44,198,627 (GRCm39) |
N42D |
probably damaging |
Het |
| Adamdec1 |
G |
A |
14: 68,807,562 (GRCm39) |
T366I |
probably damaging |
Het |
| Adamts7 |
C |
A |
9: 90,075,383 (GRCm39) |
H1038Q |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,666,209 (GRCm39) |
D5G |
possibly damaging |
Het |
| Amhr2 |
A |
T |
15: 102,362,688 (GRCm39) |
D485V |
probably damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,298,663 (GRCm39) |
F134Y |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,649,534 (GRCm39) |
T508A |
probably benign |
Het |
| Atp10a |
TGGCGGCGGC |
TGGCGGC |
7: 58,308,248 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
| Atp9a |
A |
G |
2: 168,479,592 (GRCm39) |
F928L |
possibly damaging |
Het |
| BC034090 |
A |
T |
1: 155,108,221 (GRCm39) |
D13E |
probably damaging |
Het |
| Bco1 |
A |
G |
8: 117,855,980 (GRCm39) |
E425G |
probably benign |
Het |
| Brsk1 |
T |
C |
7: 4,710,298 (GRCm39) |
S436P |
possibly damaging |
Het |
| C1s1 |
T |
C |
6: 124,513,449 (GRCm39) |
I193V |
probably benign |
Het |
| Calb2 |
A |
G |
8: 110,894,709 (GRCm39) |
F21L |
probably benign |
Het |
| Catsperz |
T |
G |
19: 6,902,171 (GRCm39) |
T108P |
probably benign |
Het |
| Cep57l1 |
T |
A |
10: 41,595,767 (GRCm39) |
D329V |
possibly damaging |
Het |
| Cfdp1 |
A |
G |
8: 112,557,577 (GRCm39) |
F188S |
probably benign |
Het |
| Chrna2 |
G |
A |
14: 66,386,292 (GRCm39) |
G146D |
probably damaging |
Het |
| Col6a1 |
A |
C |
10: 76,550,506 (GRCm39) |
F520V |
unknown |
Het |
| Cyb5d2 |
C |
A |
11: 72,669,771 (GRCm39) |
V43L |
probably damaging |
Het |
| Cyp2c40 |
T |
C |
19: 39,775,290 (GRCm39) |
T321A |
probably benign |
Het |
| Dnajc16 |
A |
C |
4: 141,490,859 (GRCm39) |
Y764D |
probably damaging |
Het |
| Dsg1a |
G |
A |
18: 20,473,590 (GRCm39) |
V888M |
probably damaging |
Het |
| F5 |
A |
C |
1: 164,012,489 (GRCm39) |
T468P |
probably damaging |
Het |
| Faap24 |
A |
G |
7: 35,094,509 (GRCm39) |
M97T |
probably benign |
Het |
| Fam227b |
A |
T |
2: 125,849,230 (GRCm39) |
I334N |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,562,864 (GRCm39) |
P548T |
probably damaging |
Het |
| Gfm1 |
A |
G |
3: 67,340,731 (GRCm39) |
E94G |
probably damaging |
Het |
| Gm17606 |
A |
T |
14: 54,885,696 (GRCm39) |
|
probably benign |
Het |
| Gnb2 |
A |
T |
5: 137,528,515 (GRCm39) |
M1K |
probably null |
Het |
| Gys1 |
G |
A |
7: 45,104,258 (GRCm39) |
A544T |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,096,675 (GRCm39) |
Y230C |
probably damaging |
Het |
| Hunk |
A |
T |
16: 90,244,196 (GRCm39) |
|
probably null |
Het |
| Ifnl2 |
A |
G |
7: 28,209,635 (GRCm39) |
F51L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,387,892 (GRCm39) |
|
probably null |
Het |
| Kcnj1 |
A |
G |
9: 32,307,918 (GRCm39) |
Y114C |
probably benign |
Het |
| Kdm4b |
T |
A |
17: 56,706,459 (GRCm39) |
S322T |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,471,730 (GRCm39) |
E786G |
probably damaging |
Het |
| Kif6 |
T |
C |
17: 50,060,909 (GRCm39) |
V414A |
probably benign |
Het |
| L1td1 |
A |
G |
4: 98,621,861 (GRCm39) |
K141R |
possibly damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,490,581 (GRCm39) |
I1394V |
possibly damaging |
Het |
| Lrfn5 |
A |
T |
12: 61,886,433 (GRCm39) |
M74L |
probably damaging |
Het |
| Lrp6 |
C |
T |
6: 134,488,230 (GRCm39) |
D289N |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,548,710 (GRCm39) |
|
probably null |
Het |
| Muc4 |
A |
C |
16: 32,589,651 (GRCm39) |
E2885A |
possibly damaging |
Het |
| Myo18b |
G |
T |
5: 113,023,041 (GRCm39) |
|
probably benign |
Het |
| Ncln |
G |
A |
10: 81,328,902 (GRCm39) |
A172V |
probably damaging |
Het |
| Nek9 |
G |
A |
12: 85,367,666 (GRCm39) |
T335M |
possibly damaging |
Het |
| Notch2 |
A |
G |
3: 98,042,829 (GRCm39) |
Y1398C |
probably damaging |
Het |
| Or10g6 |
A |
T |
9: 39,933,823 (GRCm39) |
I45F |
probably damaging |
Het |
| Or2d4 |
T |
A |
7: 106,544,074 (GRCm39) |
I45F |
probably damaging |
Het |
| Or5p52 |
A |
T |
7: 107,502,188 (GRCm39) |
H88L |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,376 (GRCm39) |
V40M |
probably damaging |
Het |
| Pde6c |
A |
G |
19: 38,157,887 (GRCm39) |
Y637C |
probably damaging |
Het |
| Plppr5 |
A |
G |
3: 117,414,618 (GRCm39) |
I80V |
probably damaging |
Het |
| Pold1 |
G |
T |
7: 44,182,233 (GRCm39) |
P1100T |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,977,387 (GRCm39) |
Y41H |
probably damaging |
Het |
| Rilp |
T |
A |
11: 75,402,250 (GRCm39) |
Y250N |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,652,751 (GRCm39) |
V19A |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,815,519 (GRCm39) |
|
probably null |
Het |
| Rufy4 |
A |
G |
1: 74,172,266 (GRCm39) |
K246E |
probably damaging |
Het |
| Saraf |
C |
A |
8: 34,635,616 (GRCm39) |
A306E |
probably damaging |
Het |
| Slc26a8 |
A |
T |
17: 28,857,658 (GRCm39) |
N828K |
probably benign |
Het |
| Src |
C |
T |
2: 157,311,852 (GRCm39) |
P527S |
probably damaging |
Het |
| Susd3 |
C |
T |
13: 49,384,778 (GRCm39) |
|
probably null |
Het |
| Syngap1 |
T |
C |
17: 27,185,880 (GRCm39) |
L1270P |
probably damaging |
Het |
| Taf1c |
G |
A |
8: 120,325,589 (GRCm39) |
P758S |
probably damaging |
Het |
| Tenm2 |
A |
T |
11: 35,915,275 (GRCm39) |
N2087K |
probably damaging |
Het |
| Tfrc |
A |
T |
16: 32,448,969 (GRCm39) |
I703F |
probably damaging |
Het |
| Thap1 |
C |
G |
8: 26,650,874 (GRCm39) |
T48S |
probably benign |
Het |
| Tspear |
T |
C |
10: 77,702,163 (GRCm39) |
F199L |
probably benign |
Het |
| Usp17lc |
A |
T |
7: 103,067,797 (GRCm39) |
H364L |
probably benign |
Het |
| Usp9x |
A |
G |
X: 12,989,747 (GRCm39) |
R776G |
possibly damaging |
Homo |
| Vmn1r1 |
T |
C |
1: 181,984,789 (GRCm39) |
E292G |
possibly damaging |
Het |
| Vmn1r125 |
T |
G |
7: 21,006,552 (GRCm39) |
V150G |
probably damaging |
Het |
| Vmn1r167 |
A |
T |
7: 23,204,117 (GRCm39) |
L300I |
probably damaging |
Het |
| Vmn2r106 |
A |
C |
17: 20,487,885 (GRCm39) |
I838S |
probably benign |
Het |
| Wdr64 |
A |
T |
1: 175,554,060 (GRCm39) |
S197C |
probably damaging |
Het |
| Zfp248 |
A |
T |
6: 118,410,268 (GRCm39) |
V47E |
possibly damaging |
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 |
|
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 |
|
|
R5319:Rgl2
|
UTSW |
17 |
34,152,529 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- ATCCCCTCTCAGTGTTTGGG -3'
(R):5'- AAGAACAGGCCTCTGAGCAC -3'
Sequencing Primer
(F):5'- CTCAGTGTTTGGGAGGCCTC -3'
(R):5'- TGGCGTTCCGAAGCTTC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation