Incidental Mutation 'R7256:Rgl2'
ID |
564303 |
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 |
045317-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R7256 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 34153964 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 457
(F457L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025163]
[ENSMUST00000047503]
[ENSMUST00000173363]
[ENSMUST00000174048]
[ENSMUST00000174426]
[ENSMUST00000179418]
|
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: ENSMUST00000025163
|
SMART Domains |
Protein: ENSMUSP00000025163 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
10 |
115 |
9.6e-29 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047503
AA Change: F457L
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000041082 Gene: ENSMUSG00000041354 AA Change: F457L
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 |
|
SMART Domains |
Protein: ENSMUSP00000134312 Gene: ENSMUSG00000041354 AA Change: F21L
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 |
probably benign
Transcript: ENSMUST00000173363
|
SMART Domains |
Protein: ENSMUSP00000138662 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
1 |
89 |
1.1e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174048
|
SMART Domains |
Protein: ENSMUSP00000133656 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
10 |
115 |
2e-28 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174426
|
SMART Domains |
Protein: ENSMUSP00000134069 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
1 |
89 |
1.1e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000179418
|
SMART Domains |
Protein: ENSMUSP00000137072 Gene: ENSMUSG00000024309
Domain | Start | End | E-Value | Type |
Pfam:Prefoldin_2
|
10 |
115 |
2e-28 |
PFAM |
|
Meta Mutation Damage Score |
0.8096 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
99% (70/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts5 |
A |
G |
16: 85,659,923 (GRCm39) |
Y790H |
probably damaging |
Het |
Bend3 |
A |
C |
10: 43,369,667 (GRCm39) |
S7R |
probably benign |
Het |
Ccdc106 |
A |
G |
7: 5,063,325 (GRCm39) |
T277A |
probably damaging |
Het |
Ccdc162 |
G |
A |
10: 41,431,997 (GRCm39) |
A1832V |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 61,288,851 (GRCm39) |
E338G |
probably benign |
Het |
Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
Cecr2 |
T |
C |
6: 120,739,490 (GRCm39) |
S1406P |
probably benign |
Het |
Cep290 |
A |
G |
10: 100,382,360 (GRCm39) |
T208A |
probably damaging |
Het |
Cep85l |
A |
C |
10: 53,172,351 (GRCm39) |
C569W |
probably damaging |
Het |
Ces5a |
G |
A |
8: 94,226,154 (GRCm39) |
T527I |
probably benign |
Het |
Clca3a2 |
T |
A |
3: 144,796,608 (GRCm39) |
I200F |
probably damaging |
Het |
Cmas |
G |
A |
6: 142,716,312 (GRCm39) |
D251N |
probably damaging |
Het |
Ctcfl |
G |
T |
2: 172,960,268 (GRCm39) |
A105E |
probably benign |
Het |
Dclk2 |
C |
T |
3: 86,700,566 (GRCm39) |
R638H |
probably damaging |
Het |
Dctn6 |
A |
T |
8: 34,557,962 (GRCm39) |
I170N |
probably damaging |
Het |
Dnah2 |
T |
C |
11: 69,321,920 (GRCm39) |
Y3800C |
probably damaging |
Het |
Dsg2 |
G |
A |
18: 20,724,988 (GRCm39) |
V465I |
possibly damaging |
Het |
Dzip1 |
T |
C |
14: 119,123,058 (GRCm39) |
T646A |
probably benign |
Het |
Etv4 |
T |
A |
11: 101,675,151 (GRCm39) |
|
probably null |
Het |
Exoc3l2 |
T |
C |
7: 19,218,628 (GRCm39) |
V549A |
unknown |
Het |
Ficd |
G |
T |
5: 113,876,880 (GRCm39) |
A352S |
probably damaging |
Het |
Fry |
T |
G |
5: 150,390,251 (GRCm39) |
I179S |
|
Het |
Galntl5 |
A |
G |
5: 25,400,298 (GRCm39) |
H109R |
probably benign |
Het |
Garem1 |
C |
A |
18: 21,281,811 (GRCm39) |
G182W |
probably damaging |
Het |
Gm5916 |
A |
T |
9: 36,032,285 (GRCm39) |
Y50N |
possibly damaging |
Het |
Gtf2h2 |
A |
T |
13: 100,615,709 (GRCm39) |
F271I |
probably benign |
Het |
Hivep2 |
G |
T |
10: 14,004,845 (GRCm39) |
S481I |
probably benign |
Het |
Homez |
T |
A |
14: 55,094,877 (GRCm39) |
Q277L |
probably damaging |
Het |
Hoxb4 |
C |
A |
11: 96,210,722 (GRCm39) |
|
probably null |
Het |
Igll1 |
A |
G |
16: 16,678,957 (GRCm39) |
S118P |
probably damaging |
Het |
Ikzf2 |
A |
C |
1: 69,617,212 (GRCm39) |
|
probably null |
Het |
Kif5b |
A |
G |
18: 6,225,340 (GRCm39) |
V230A |
probably damaging |
Het |
Ldlr |
T |
A |
9: 21,657,040 (GRCm39) |
V719E |
probably benign |
Het |
Lsm7 |
G |
A |
10: 80,689,565 (GRCm39) |
R66W |
possibly damaging |
Het |
Map3k13 |
T |
A |
16: 21,710,988 (GRCm39) |
D90E |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,953,098 (GRCm39) |
K460E |
probably damaging |
Het |
Myh10 |
A |
C |
11: 68,681,515 (GRCm39) |
N1061H |
probably damaging |
Het |
Nepn |
A |
G |
10: 52,277,089 (GRCm39) |
Q275R |
probably benign |
Het |
Noc3l |
A |
T |
19: 38,800,800 (GRCm39) |
D227E |
probably benign |
Het |
Nploc4 |
G |
T |
11: 120,319,376 (GRCm39) |
S61R |
probably benign |
Het |
Nr4a2 |
T |
C |
2: 57,002,381 (GRCm39) |
Y24C |
probably damaging |
Het |
Nup160 |
T |
A |
2: 90,553,699 (GRCm39) |
I1143N |
probably damaging |
Het |
Or14a256 |
G |
T |
7: 86,264,873 (GRCm39) |
H327N |
probably benign |
Het |
Or4a15 |
A |
T |
2: 89,192,838 (GRCm39) |
Y312N |
probably benign |
Het |
Or8c17 |
T |
A |
9: 38,180,004 (GRCm39) |
M57K |
probably damaging |
Het |
Or8h7 |
A |
G |
2: 86,720,956 (GRCm39) |
S188P |
probably damaging |
Het |
Papola |
T |
A |
12: 105,775,604 (GRCm39) |
C204S |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Pgap1 |
A |
T |
1: 54,532,366 (GRCm39) |
|
probably null |
Het |
Pitrm1 |
A |
G |
13: 6,606,633 (GRCm39) |
H229R |
probably damaging |
Het |
Plcl1 |
A |
G |
1: 55,737,377 (GRCm39) |
Q906R |
probably benign |
Het |
Ppfia3 |
T |
C |
7: 44,991,167 (GRCm39) |
N1018S |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,452,849 (GRCm39) |
D93E |
probably benign |
Het |
Prkd1 |
A |
G |
12: 50,435,125 (GRCm39) |
V534A |
possibly damaging |
Het |
Pygm |
A |
T |
19: 6,435,926 (GRCm39) |
I126F |
probably benign |
Het |
Rag1 |
T |
C |
2: 101,472,415 (GRCm39) |
Y909C |
probably damaging |
Het |
Rasgrf2 |
G |
A |
13: 92,032,637 (GRCm39) |
Q560* |
probably null |
Het |
Rbp3 |
A |
T |
14: 33,684,540 (GRCm39) |
I1190F |
possibly damaging |
Het |
Reln |
T |
C |
5: 22,183,921 (GRCm39) |
K1693E |
probably benign |
Het |
Rsph3a |
A |
G |
17: 8,165,002 (GRCm39) |
T121A |
probably benign |
Het |
Rufy3 |
A |
G |
5: 88,762,806 (GRCm39) |
N112S |
possibly damaging |
Het |
Ryr3 |
G |
A |
2: 112,502,591 (GRCm39) |
Q3548* |
probably null |
Het |
Sardh |
A |
T |
2: 27,108,824 (GRCm39) |
V637D |
probably benign |
Het |
Spata16 |
T |
C |
3: 26,722,016 (GRCm39) |
V179A |
probably benign |
Het |
Spopfm2 |
T |
C |
3: 94,083,667 (GRCm39) |
E48G |
probably benign |
Het |
Tbc1d30 |
G |
A |
10: 121,124,870 (GRCm39) |
T319I |
probably damaging |
Het |
Tlr2 |
T |
A |
3: 83,744,913 (GRCm39) |
Q390L |
possibly damaging |
Het |
Tmem53 |
C |
T |
4: 117,109,237 (GRCm39) |
|
probably null |
Het |
Vmn1r113 |
T |
A |
7: 20,521,370 (GRCm39) |
I54N |
probably damaging |
Het |
Vmn1r223 |
A |
C |
13: 23,434,036 (GRCm39) |
Y210S |
probably damaging |
Het |
Zbbx |
A |
T |
3: 74,947,205 (GRCm39) |
H670Q |
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 |
|
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 |
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'- CTGAGTGTCAAGTGGAGCTG -3'
(R):5'- ATTCTTTCTGGAGGCGCAAC -3'
Sequencing Primer
(F):5'- GCTACACAGTGAGTCCCAGTCTC -3'
(R):5'- GGCGCAACAGCTCCGAAAG -3'
|
Posted On |
2019-06-26 |