Incidental Mutation 'R7455:Rgl2'
| ID |
578095 |
| 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 |
045529-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
R7455 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34151657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 234
(A234T)
|
| 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: A234T
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354
AA Change: A234T
| 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 |
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
C |
T |
7: 76,074,503 (GRCm39) |
H646Y |
unknown |
Het |
| Ak5 |
C |
T |
3: 152,187,209 (GRCm39) |
R426H |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,022,792 (GRCm39) |
V1207A |
probably benign |
Het |
| Asph |
A |
T |
4: 9,531,732 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
T |
G |
10: 122,285,169 (GRCm39) |
C154G |
probably damaging |
Het |
| Boll |
T |
C |
1: 55,339,262 (GRCm39) |
Q283R |
probably benign |
Het |
| Cad |
C |
T |
5: 31,231,506 (GRCm39) |
P1743S |
probably damaging |
Het |
| Ccdc137 |
T |
G |
11: 120,350,985 (GRCm39) |
M129R |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,142,003 (GRCm39) |
I3028T |
possibly damaging |
Het |
| Cep68 |
T |
A |
11: 20,180,571 (GRCm39) |
I687F |
probably damaging |
Het |
| Ces2a |
T |
A |
8: 105,464,154 (GRCm39) |
I262N |
probably damaging |
Het |
| Cfap44 |
A |
G |
16: 44,225,147 (GRCm39) |
|
probably benign |
Het |
| Cfap69 |
T |
G |
5: 5,675,873 (GRCm39) |
H247P |
possibly damaging |
Het |
| Cideb |
T |
C |
14: 55,992,292 (GRCm39) |
T134A |
probably damaging |
Het |
| Cilp2 |
A |
T |
8: 70,333,721 (GRCm39) |
D1092E |
probably damaging |
Het |
| Cptp |
G |
A |
4: 155,950,957 (GRCm39) |
R170C |
probably damaging |
Het |
| Cysrt1 |
A |
G |
2: 25,129,422 (GRCm39) |
L30S |
probably benign |
Het |
| Dcc |
A |
G |
18: 71,553,394 (GRCm39) |
V754A |
probably benign |
Het |
| Entrep2 |
A |
G |
7: 64,409,161 (GRCm39) |
V411A |
probably benign |
Het |
| Fer1l5 |
A |
T |
1: 36,428,064 (GRCm39) |
T453S |
probably benign |
Het |
| Fnbp4 |
ACCACCTCCACCTCCACCTCC |
ACCACCTCCACCTCCACCTCCACCTCC |
2: 90,608,159 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
C |
T |
3: 53,479,701 (GRCm39) |
|
probably null |
Het |
| Gm13941 |
A |
G |
2: 110,925,085 (GRCm39) |
F173L |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,554,915 (GRCm39) |
A1654T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,798,332 (GRCm39) |
I840N |
probably damaging |
Het |
| Kdm4b |
T |
A |
17: 56,703,657 (GRCm39) |
I746N |
probably damaging |
Het |
| Lins1 |
C |
A |
7: 66,361,692 (GRCm39) |
H448N |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,421,507 (GRCm39) |
Y581* |
probably null |
Het |
| Mark1 |
T |
A |
1: 184,651,947 (GRCm39) |
E186V |
probably damaging |
Het |
| Mcph1 |
T |
A |
8: 18,681,775 (GRCm39) |
V304E |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,935,705 (GRCm39) |
D1607G |
probably damaging |
Het |
| Mup18 |
A |
G |
4: 61,592,171 (GRCm39) |
V31A |
probably benign |
Het |
| Nectin3 |
A |
T |
16: 46,317,105 (GRCm39) |
C11* |
probably null |
Het |
| Nedd1 |
A |
T |
10: 92,536,787 (GRCm39) |
L172M |
probably benign |
Het |
| Nim1k |
G |
A |
13: 120,173,995 (GRCm39) |
R300W |
probably damaging |
Het |
| Oprm1 |
T |
C |
10: 6,780,204 (GRCm39) |
F289L |
probably damaging |
Het |
| Or4c115 |
G |
T |
2: 88,927,434 (GRCm39) |
P279Q |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,900,150 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or8c8 |
T |
C |
9: 38,165,550 (GRCm39) |
V276A |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,931,432 (GRCm39) |
Y351H |
probably benign |
Het |
| Phf3 |
A |
C |
1: 30,876,239 (GRCm39) |
V118G |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,913,643 (GRCm39) |
Y1014H |
unknown |
Het |
| Pmp22 |
A |
G |
11: 63,025,339 (GRCm39) |
|
probably null |
Het |
| Ppfibp1 |
T |
A |
6: 146,917,848 (GRCm39) |
F501L |
probably damaging |
Het |
| Rhpn2 |
G |
A |
7: 35,070,669 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,559,211 (GRCm39) |
K3058E |
probably damaging |
Het |
| Sbsn |
A |
T |
7: 30,452,602 (GRCm39) |
Q539L |
possibly damaging |
Het |
| Scgn |
G |
A |
13: 24,150,848 (GRCm39) |
R168C |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,463,832 (GRCm39) |
Y38C |
probably damaging |
Het |
| Sfmbt2 |
G |
A |
2: 10,582,766 (GRCm39) |
V709I |
probably benign |
Het |
| Slc1a2 |
A |
T |
2: 102,566,299 (GRCm39) |
M10L |
probably benign |
Het |
| Sox6 |
T |
G |
7: 115,088,904 (GRCm39) |
I653L |
probably benign |
Het |
| Tespa1 |
A |
G |
10: 130,196,559 (GRCm39) |
I166V |
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,067,025 (GRCm39) |
Y2152H |
possibly damaging |
Het |
| Tlr9 |
A |
G |
9: 106,101,729 (GRCm39) |
N340S |
probably benign |
Het |
| Tmem198 |
G |
A |
1: 75,456,430 (GRCm39) |
R28Q |
unknown |
Het |
| Tut7 |
T |
C |
13: 59,969,871 (GRCm39) |
Y8C |
probably benign |
Het |
| Vmn2r7 |
T |
C |
3: 64,624,014 (GRCm39) |
D102G |
probably benign |
Het |
| Wdr93 |
A |
G |
7: 79,425,267 (GRCm39) |
M529V |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,581,984 (GRCm39) |
H310R |
probably benign |
Het |
| Zfp36l2 |
A |
G |
17: 84,494,575 (GRCm39) |
S21P |
probably damaging |
Het |
| Zfp534 |
G |
A |
4: 147,759,212 (GRCm39) |
H486Y |
probably damaging |
Het |
| Zfp638 |
G |
A |
6: 83,907,127 (GRCm39) |
V431I |
probably 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 |
|
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 |
|
|
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 |
|
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'- TCTCAGGGTAGCCATCTCTG -3'
(R):5'- AGGAACTGCACCAGGACAATTG -3'
Sequencing Primer
(F):5'- AGGGTAGCCATCTCTGTACTTTCAAC -3'
(R):5'- CTGCACCAGGACAATTGGAAGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation