Incidental Mutation 'R2102:Rgl2'
ID |
230628 |
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 |
040106-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.136)
|
Stock # |
R2102 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
34148813-34156661 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 34152314 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000047503
|
SMART Domains |
Protein: ENSMUSP00000041082 Gene: ENSMUSG00000041354
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: ENSMUST00000174442
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173502
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173379
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173718
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174410
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,770,934 (GRCm39) |
L41P |
probably damaging |
Het |
Abca8a |
G |
T |
11: 109,958,878 (GRCm39) |
P749T |
probably damaging |
Het |
Acad8 |
A |
T |
9: 26,896,861 (GRCm39) |
Y199* |
probably null |
Het |
Acot12 |
A |
T |
13: 91,908,096 (GRCm39) |
I93L |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,191,949 (GRCm39) |
Y542* |
probably null |
Het |
Actn1 |
C |
A |
12: 80,230,291 (GRCm39) |
R321L |
probably benign |
Het |
Ap3s1 |
A |
G |
18: 46,887,469 (GRCm39) |
E34G |
possibly damaging |
Het |
Armh4 |
A |
G |
14: 50,011,459 (GRCm39) |
Y83H |
probably damaging |
Het |
Atp5f1a |
T |
C |
18: 77,870,017 (GRCm39) |
S533P |
probably damaging |
Het |
Bcorl1 |
T |
C |
X: 47,458,081 (GRCm39) |
V538A |
probably benign |
Het |
Cdhr4 |
A |
G |
9: 107,875,206 (GRCm39) |
T689A |
probably damaging |
Het |
Cdk19 |
A |
T |
10: 40,355,726 (GRCm39) |
|
probably benign |
Het |
Cobll1 |
G |
T |
2: 64,928,554 (GRCm39) |
P923Q |
probably damaging |
Het |
Cpt1a |
T |
C |
19: 3,421,585 (GRCm39) |
S456P |
probably benign |
Het |
Cst11 |
T |
C |
2: 148,613,160 (GRCm39) |
Y55C |
probably damaging |
Het |
Ctif |
T |
G |
18: 75,654,452 (GRCm39) |
D358A |
probably benign |
Het |
Cyp2d34 |
T |
G |
15: 82,500,974 (GRCm39) |
E386A |
probably benign |
Het |
Dcxr |
A |
G |
11: 120,617,133 (GRCm39) |
F104L |
probably benign |
Het |
Dmbt1 |
G |
T |
7: 130,703,762 (GRCm39) |
W1107C |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,466,830 (GRCm39) |
I567F |
probably damaging |
Het |
Ednrb |
T |
A |
14: 104,058,350 (GRCm39) |
R318* |
probably null |
Het |
Exd2 |
T |
C |
12: 80,527,377 (GRCm39) |
I36T |
possibly damaging |
Het |
Fam83b |
A |
T |
9: 76,399,987 (GRCm39) |
I372N |
probably damaging |
Het |
Fbh1 |
A |
G |
2: 11,763,100 (GRCm39) |
V518A |
probably benign |
Het |
Fkbp5 |
T |
C |
17: 28,625,162 (GRCm39) |
E308G |
possibly damaging |
Het |
Foxl2 |
A |
C |
9: 98,838,282 (GRCm39) |
Y190S |
probably damaging |
Het |
Gab3 |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC |
X: 74,043,585 (GRCm39) |
|
probably benign |
Het |
Galnt17 |
C |
T |
5: 131,114,831 (GRCm39) |
R223Q |
probably damaging |
Het |
Gm14496 |
G |
A |
2: 181,633,127 (GRCm39) |
D37N |
possibly damaging |
Het |
Gpr82 |
T |
C |
X: 13,532,274 (GRCm39) |
V274A |
probably benign |
Het |
Hsp90aa1 |
T |
C |
12: 110,660,566 (GRCm39) |
N292S |
probably damaging |
Het |
Ints1 |
C |
T |
5: 139,741,754 (GRCm39) |
V1826M |
possibly damaging |
Het |
Itgb4 |
A |
G |
11: 115,896,561 (GRCm39) |
D1440G |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,963,200 (GRCm39) |
D1552G |
probably damaging |
Het |
Kel |
G |
A |
6: 41,663,418 (GRCm39) |
T702I |
possibly damaging |
Het |
Klf3 |
T |
C |
5: 64,979,266 (GRCm39) |
V36A |
probably damaging |
Het |
Klhl23 |
A |
T |
2: 69,659,228 (GRCm39) |
I418F |
probably damaging |
Het |
Kndc1 |
A |
T |
7: 139,510,674 (GRCm39) |
I1329L |
probably benign |
Het |
Krtap2-4 |
T |
C |
11: 99,505,606 (GRCm39) |
|
probably benign |
Het |
Krtap9-5 |
T |
A |
11: 99,840,270 (GRCm39) |
C324S |
unknown |
Het |
Lepr |
T |
C |
4: 101,630,178 (GRCm39) |
V631A |
possibly damaging |
Het |
Lifr |
T |
C |
15: 7,216,404 (GRCm39) |
I793T |
probably damaging |
Het |
Mcoln1 |
G |
A |
8: 3,561,731 (GRCm39) |
R427H |
probably damaging |
Het |
Mgat5b |
G |
A |
11: 116,810,255 (GRCm39) |
|
probably benign |
Het |
Mmp12 |
G |
A |
9: 7,349,802 (GRCm39) |
V78M |
probably damaging |
Het |
Mrgprb8 |
T |
A |
7: 48,038,634 (GRCm39) |
L102M |
possibly damaging |
Het |
Mybphl |
A |
G |
3: 108,282,949 (GRCm39) |
T246A |
possibly damaging |
Het |
Myo7b |
A |
T |
18: 32,133,031 (GRCm39) |
F439L |
probably damaging |
Het |
Myom1 |
A |
T |
17: 71,408,024 (GRCm39) |
D1088V |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,623,471 (GRCm39) |
F1004S |
probably benign |
Het |
Palld |
A |
T |
8: 61,986,467 (GRCm39) |
M788K |
possibly damaging |
Het |
Pappa |
T |
A |
4: 65,234,465 (GRCm39) |
Y1423* |
probably null |
Het |
Pfkm |
A |
G |
15: 98,027,171 (GRCm39) |
K615E |
probably damaging |
Het |
Pkd1l2 |
G |
T |
8: 117,808,208 (GRCm39) |
D105E |
probably damaging |
Het |
Plekha5 |
G |
A |
6: 140,518,603 (GRCm39) |
A297T |
probably damaging |
Het |
Plxnb1 |
T |
A |
9: 108,944,810 (GRCm39) |
M2051K |
probably damaging |
Het |
Ppp6r2 |
A |
G |
15: 89,162,949 (GRCm39) |
T524A |
probably damaging |
Het |
Psg26 |
T |
C |
7: 18,209,067 (GRCm39) |
E447G |
probably damaging |
Het |
Rab3gap2 |
A |
G |
1: 185,014,586 (GRCm39) |
D1225G |
probably benign |
Het |
Rep15 |
A |
G |
6: 146,934,403 (GRCm39) |
|
probably null |
Het |
Rpl7a |
T |
G |
2: 26,801,473 (GRCm39) |
V55G |
possibly damaging |
Het |
Rtp1 |
A |
T |
16: 23,250,108 (GRCm39) |
I158F |
probably benign |
Het |
Scaper |
A |
T |
9: 55,819,334 (GRCm39) |
V127E |
probably benign |
Het |
Sele |
T |
A |
1: 163,881,395 (GRCm39) |
C501S |
probably damaging |
Het |
Serpina11 |
C |
T |
12: 103,949,104 (GRCm39) |
V358I |
probably benign |
Het |
Slc16a4 |
A |
G |
3: 107,211,819 (GRCm39) |
|
probably null |
Het |
Slco6c1 |
T |
C |
1: 97,055,656 (GRCm39) |
I82V |
probably benign |
Het |
Smarca5 |
T |
C |
8: 81,431,304 (GRCm39) |
E971G |
probably damaging |
Het |
Smr2 |
T |
C |
5: 88,256,595 (GRCm39) |
L91P |
probably damaging |
Het |
Spata31f3 |
T |
A |
4: 42,868,558 (GRCm39) |
H355L |
probably benign |
Het |
Spopfm2 |
A |
T |
3: 94,082,973 (GRCm39) |
C279* |
probably null |
Het |
Srrm2 |
A |
G |
17: 24,036,722 (GRCm39) |
|
probably benign |
Het |
Sting1 |
A |
T |
18: 35,868,290 (GRCm39) |
M270K |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,006,514 (GRCm39) |
W7980R |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,074,853 (GRCm39) |
T4598A |
probably benign |
Het |
Tmem171 |
A |
T |
13: 98,828,851 (GRCm39) |
F100I |
probably damaging |
Het |
Tnfrsf10b |
A |
G |
14: 70,013,546 (GRCm39) |
T159A |
probably benign |
Het |
Tph1 |
A |
T |
7: 46,309,834 (GRCm39) |
|
probably null |
Het |
Trim46 |
A |
T |
3: 89,142,504 (GRCm39) |
I638N |
probably damaging |
Het |
Ubl7 |
G |
A |
9: 57,827,825 (GRCm39) |
D171N |
probably damaging |
Het |
Utp20 |
A |
G |
10: 88,608,779 (GRCm39) |
Y1514H |
probably damaging |
Het |
Vmn2r81 |
A |
G |
10: 79,129,334 (GRCm39) |
I742V |
probably damaging |
Het |
Xrcc2 |
A |
T |
5: 25,897,505 (GRCm39) |
V148E |
probably damaging |
Het |
Zbed3 |
A |
G |
13: 95,472,615 (GRCm39) |
D13G |
possibly damaging |
Het |
Zdhhc25 |
T |
A |
15: 88,484,962 (GRCm39) |
L99Q |
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 |
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 |
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'- ACAGTTCAACAAGGTGGCG -3'
(R):5'- AACAGGCCTCTGAGCACAAG -3'
Sequencing Primer
(F):5'- GGGGCCACCTCAATTGGAG -3'
(R):5'- TCTGAGCACAAGCCTGGC -3'
|
Posted On |
2014-09-18 |