Incidental Mutation 'R1512:Rapgef3'
ID |
168449 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rapgef3
|
Ensembl Gene |
ENSMUSG00000022469 |
Gene Name |
Rap guanine nucleotide exchange factor (GEF) 3 |
Synonyms |
Epac1, 9330170P05Rik, 2310016P22Rik |
MMRRC Submission |
039559-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
R1512 (G1)
|
Quality Score |
161 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 97655382 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 444
(V444E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000177352]
[ENSMUST00000149419]
[ENSMUST00000146620]
[ENSMUST00000175894]
|
AlphaFold |
Q8VCC8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126854
AA Change: V444E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000116426 Gene: ENSMUSG00000022469 AA Change: V444E
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
6e-45 |
BLAST |
RasGEF
|
661 |
926 |
7.98e-95 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128775
AA Change: V444E
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000120126 Gene: ENSMUSG00000022469 AA Change: V444E
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
7e-45 |
BLAST |
RasGEF
|
661 |
909 |
5.53e-80 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129223
AA Change: V444E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000118148 Gene: ENSMUSG00000022469 AA Change: V444E
Domain | Start | End | E-Value | Type |
DEP
|
111 |
186 |
2.05e-25 |
SMART |
low complexity region
|
197 |
208 |
N/A |
INTRINSIC |
low complexity region
|
230 |
241 |
N/A |
INTRINSIC |
cNMP
|
245 |
364 |
2.53e-12 |
SMART |
RasGEFN
|
383 |
514 |
7.04e-10 |
SMART |
Blast:RasGEF
|
547 |
644 |
6e-45 |
BLAST |
RasGEF
|
661 |
918 |
2.11e-85 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134371
|
SMART Domains |
Protein: ENSMUSP00000122746 Gene: ENSMUSG00000022469
Domain | Start | End | E-Value | Type |
Blast:cNMP
|
1 |
24 |
9e-8 |
BLAST |
PDB:3CF6|E
|
1 |
67 |
5e-12 |
PDB |
Blast:RasGEFN
|
36 |
67 |
2e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134885
|
SMART Domains |
Protein: ENSMUSP00000135317 Gene: ENSMUSG00000022469
Domain | Start | End | E-Value | Type |
RasGEF
|
1 |
216 |
2.91e-56 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142196
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177352
AA Change: V402E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000135238 Gene: ENSMUSG00000022469 AA Change: V402E
Domain | Start | End | E-Value | Type |
DEP
|
69 |
144 |
2.05e-25 |
SMART |
low complexity region
|
155 |
166 |
N/A |
INTRINSIC |
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
cNMP
|
203 |
322 |
2.53e-12 |
SMART |
RasGEFN
|
341 |
472 |
7.04e-10 |
SMART |
Blast:RasGEF
|
505 |
602 |
3e-45 |
BLAST |
RasGEF
|
619 |
884 |
7.98e-95 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153241
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146214
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149373
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149419
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146620
|
SMART Domains |
Protein: ENSMUSP00000116673 Gene: ENSMUSG00000022469
Domain | Start | End | E-Value | Type |
DEP
|
69 |
144 |
2.05e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
Meta Mutation Damage Score |
0.0819 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
95% (79/83) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased induced neuron apoptosis. Mice homozygous for a different allele exhibit impaired glucose homeostasis with decreased insulin secretion, increased susceptibility to diet-induced obesity and streptozotocin-induced insulitis and hyperglycemia. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,086,295 (GRCm39) |
D40E |
probably benign |
Het |
Acsf2 |
C |
T |
11: 94,452,224 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
C |
T |
18: 59,181,917 (GRCm39) |
H1119Y |
possibly damaging |
Het |
Akap6 |
A |
G |
12: 52,983,937 (GRCm39) |
D827G |
probably damaging |
Het |
Ankrd33b |
T |
C |
15: 31,367,375 (GRCm39) |
D55G |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,229,316 (GRCm39) |
H569Q |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,346,510 (GRCm39) |
D548G |
probably benign |
Het |
Baz2a |
A |
G |
10: 127,960,021 (GRCm39) |
D1433G |
possibly damaging |
Het |
BC031181 |
T |
G |
18: 75,141,767 (GRCm39) |
V8G |
probably damaging |
Het |
Bicdl2 |
A |
T |
17: 23,887,083 (GRCm39) |
M457L |
probably damaging |
Het |
C130074G19Rik |
T |
C |
1: 184,615,103 (GRCm39) |
D29G |
probably damaging |
Het |
Cd200r1 |
A |
T |
16: 44,586,390 (GRCm39) |
T7S |
probably benign |
Het |
Cdc37 |
A |
G |
9: 21,053,712 (GRCm39) |
|
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,949,267 (GRCm39) |
S526P |
probably damaging |
Het |
Cntn2 |
G |
T |
1: 132,451,430 (GRCm39) |
A433D |
probably damaging |
Het |
Cntnap5a |
T |
C |
1: 115,828,680 (GRCm39) |
S35P |
probably benign |
Het |
Csf3r |
A |
G |
4: 125,923,777 (GRCm39) |
T96A |
possibly damaging |
Het |
Ctbs |
A |
G |
3: 146,160,720 (GRCm39) |
N96D |
probably benign |
Het |
Cyp26b1 |
C |
A |
6: 84,553,979 (GRCm39) |
V213L |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,138,835 (GRCm39) |
L536P |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,179,589 (GRCm39) |
Q517R |
probably benign |
Het |
Dnah1 |
G |
T |
14: 31,014,994 (GRCm39) |
Q1733K |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,985,841 (GRCm39) |
I1416N |
probably benign |
Het |
Dock11 |
G |
A |
X: 35,283,688 (GRCm39) |
R1102H |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,971,096 (GRCm39) |
|
probably benign |
Het |
Emc1 |
G |
A |
4: 139,087,495 (GRCm39) |
|
probably null |
Het |
Emc8 |
A |
G |
8: 121,384,983 (GRCm39) |
L76P |
possibly damaging |
Het |
Emx2 |
T |
C |
19: 59,448,035 (GRCm39) |
Y130H |
possibly damaging |
Het |
Fbf1 |
C |
T |
11: 116,038,753 (GRCm39) |
R815Q |
probably damaging |
Het |
Foxb2 |
G |
A |
19: 16,849,878 (GRCm39) |
P376L |
probably damaging |
Het |
Gabrb1 |
C |
A |
5: 72,266,047 (GRCm39) |
L202I |
probably damaging |
Het |
Gabrb1 |
T |
A |
5: 72,266,048 (GRCm39) |
L202Q |
probably damaging |
Het |
Grin2c |
T |
A |
11: 115,144,676 (GRCm39) |
I617F |
probably damaging |
Het |
Gtf2h3 |
T |
A |
5: 124,728,933 (GRCm39) |
V164E |
probably damaging |
Het |
Gusb |
T |
C |
5: 130,029,731 (GRCm39) |
Q88R |
probably damaging |
Het |
Hormad2 |
T |
A |
11: 4,374,788 (GRCm39) |
K75N |
probably damaging |
Het |
Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
Ivns1abp |
A |
T |
1: 151,236,687 (GRCm39) |
Q416L |
possibly damaging |
Het |
Ivns1abp |
G |
C |
1: 151,236,688 (GRCm39) |
Q416H |
probably benign |
Het |
Kcnh5 |
T |
A |
12: 75,166,711 (GRCm39) |
H178L |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,080,543 (GRCm39) |
N579S |
probably benign |
Het |
Kif26a |
G |
C |
12: 112,113,389 (GRCm39) |
R95P |
possibly damaging |
Het |
Kl |
A |
G |
5: 150,912,062 (GRCm39) |
I604V |
probably benign |
Het |
Klhl24 |
A |
G |
16: 19,941,686 (GRCm39) |
K545E |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,306,347 (GRCm39) |
I153M |
probably damaging |
Het |
Meis1 |
T |
G |
11: 18,831,682 (GRCm39) |
D452A |
probably damaging |
Het |
Msantd4 |
C |
T |
9: 4,384,138 (GRCm39) |
P153L |
probably benign |
Het |
Myot |
A |
G |
18: 44,475,422 (GRCm39) |
E181G |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,281,195 (GRCm39) |
F150S |
probably damaging |
Het |
Nyap2 |
T |
A |
1: 81,219,566 (GRCm39) |
S529R |
probably damaging |
Het |
Or10d3 |
T |
C |
9: 39,461,390 (GRCm39) |
Y259C |
probably damaging |
Het |
Or12e10 |
A |
T |
2: 87,640,988 (GRCm39) |
T275S |
probably benign |
Het |
Or2y1c |
A |
G |
11: 49,361,286 (GRCm39) |
I103V |
probably benign |
Het |
Or8b56 |
T |
A |
9: 38,739,660 (GRCm39) |
Y224* |
probably null |
Het |
Pcnt |
C |
T |
10: 76,240,496 (GRCm39) |
|
probably null |
Het |
Pik3c3 |
T |
C |
18: 30,455,289 (GRCm39) |
|
probably null |
Het |
Pkdcc |
A |
T |
17: 83,527,473 (GRCm39) |
Y217F |
possibly damaging |
Het |
Pnpla6 |
C |
A |
8: 3,585,459 (GRCm39) |
|
probably benign |
Het |
Polr3gl |
T |
C |
3: 96,488,190 (GRCm39) |
M26V |
probably benign |
Het |
Ppp1r13b |
T |
C |
12: 111,838,842 (GRCm39) |
N12S |
possibly damaging |
Het |
Ppp1r26 |
G |
A |
2: 28,341,528 (GRCm39) |
R386K |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,248,697 (GRCm39) |
E355G |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,131,554 (GRCm39) |
F41S |
possibly damaging |
Het |
Prkar1b |
G |
T |
5: 139,036,428 (GRCm39) |
Y231* |
probably null |
Het |
Prkdc |
A |
T |
16: 15,505,268 (GRCm39) |
I857L |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,390,425 (GRCm39) |
N10K |
probably benign |
Het |
Rnf17 |
A |
T |
14: 56,705,243 (GRCm39) |
T716S |
probably benign |
Het |
Rps6ka1 |
C |
T |
4: 133,578,315 (GRCm39) |
R577H |
probably damaging |
Het |
Scn1a |
A |
C |
2: 66,161,629 (GRCm39) |
N306K |
possibly damaging |
Het |
Skint6 |
A |
G |
4: 113,095,329 (GRCm39) |
I110T |
probably damaging |
Het |
Ssu2 |
A |
G |
6: 112,364,959 (GRCm39) |
M1T |
probably null |
Het |
Stag3 |
A |
T |
5: 138,296,247 (GRCm39) |
T437S |
probably benign |
Het |
Tal2 |
A |
G |
4: 53,786,107 (GRCm39) |
Y96C |
probably benign |
Het |
Thoc3 |
A |
T |
13: 54,613,991 (GRCm39) |
|
probably null |
Het |
Tle1 |
T |
C |
4: 72,059,495 (GRCm39) |
D19G |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,964,468 (GRCm39) |
I690T |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,853,295 (GRCm39) |
M1772L |
probably benign |
Het |
Unc5b |
G |
A |
10: 60,667,254 (GRCm39) |
|
probably benign |
Het |
Usf3 |
G |
T |
16: 44,041,561 (GRCm39) |
V2014F |
probably damaging |
Het |
Utp18 |
C |
T |
11: 93,776,390 (GRCm39) |
A32T |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,682,765 (GRCm39) |
V2981A |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 55,079,738 (GRCm39) |
V349A |
probably damaging |
Het |
Znfx1 |
A |
C |
2: 166,898,237 (GRCm39) |
I229S |
probably benign |
Het |
|
Other mutations in Rapgef3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01314:Rapgef3
|
APN |
15 |
97,646,104 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01339:Rapgef3
|
APN |
15 |
97,655,940 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01670:Rapgef3
|
APN |
15 |
97,647,543 (GRCm39) |
missense |
probably benign |
0.15 |
IGL01902:Rapgef3
|
APN |
15 |
97,648,181 (GRCm39) |
missense |
probably benign |
0.32 |
IGL02137:Rapgef3
|
APN |
15 |
97,648,025 (GRCm39) |
missense |
probably benign |
0.08 |
IGL02419:Rapgef3
|
APN |
15 |
97,648,171 (GRCm39) |
missense |
probably benign |
0.33 |
IGL02427:Rapgef3
|
APN |
15 |
97,645,017 (GRCm39) |
splice site |
probably null |
|
IGL02648:Rapgef3
|
APN |
15 |
97,656,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02834:Rapgef3
|
APN |
15 |
97,646,146 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03389:Rapgef3
|
APN |
15 |
97,647,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03055:Rapgef3
|
UTSW |
15 |
97,647,370 (GRCm39) |
splice site |
probably benign |
|
R0394:Rapgef3
|
UTSW |
15 |
97,655,700 (GRCm39) |
intron |
probably benign |
|
R0538:Rapgef3
|
UTSW |
15 |
97,655,698 (GRCm39) |
intron |
probably benign |
|
R0744:Rapgef3
|
UTSW |
15 |
97,659,466 (GRCm39) |
splice site |
probably benign |
|
R1288:Rapgef3
|
UTSW |
15 |
97,657,223 (GRCm39) |
missense |
probably benign |
0.31 |
R1676:Rapgef3
|
UTSW |
15 |
97,659,063 (GRCm39) |
missense |
probably benign |
0.35 |
R1745:Rapgef3
|
UTSW |
15 |
97,648,059 (GRCm39) |
missense |
probably benign |
0.22 |
R1928:Rapgef3
|
UTSW |
15 |
97,647,914 (GRCm39) |
missense |
probably damaging |
1.00 |
R2063:Rapgef3
|
UTSW |
15 |
97,664,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R2067:Rapgef3
|
UTSW |
15 |
97,664,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R2092:Rapgef3
|
UTSW |
15 |
97,658,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R4358:Rapgef3
|
UTSW |
15 |
97,646,529 (GRCm39) |
missense |
probably benign |
0.05 |
R4624:Rapgef3
|
UTSW |
15 |
97,656,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R4627:Rapgef3
|
UTSW |
15 |
97,656,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R4727:Rapgef3
|
UTSW |
15 |
97,658,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R4812:Rapgef3
|
UTSW |
15 |
97,651,684 (GRCm39) |
missense |
probably benign |
0.21 |
R4928:Rapgef3
|
UTSW |
15 |
97,655,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R5161:Rapgef3
|
UTSW |
15 |
97,655,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R5442:Rapgef3
|
UTSW |
15 |
97,656,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R5652:Rapgef3
|
UTSW |
15 |
97,656,318 (GRCm39) |
missense |
probably benign |
0.00 |
R5837:Rapgef3
|
UTSW |
15 |
97,655,223 (GRCm39) |
splice site |
probably benign |
|
R6056:Rapgef3
|
UTSW |
15 |
97,656,742 (GRCm39) |
missense |
probably damaging |
0.99 |
R6167:Rapgef3
|
UTSW |
15 |
97,665,292 (GRCm39) |
unclassified |
probably benign |
|
R6694:Rapgef3
|
UTSW |
15 |
97,657,865 (GRCm39) |
missense |
probably benign |
0.03 |
R7039:Rapgef3
|
UTSW |
15 |
97,659,449 (GRCm39) |
missense |
probably benign |
0.01 |
R7154:Rapgef3
|
UTSW |
15 |
97,651,758 (GRCm39) |
missense |
probably benign |
|
R7380:Rapgef3
|
UTSW |
15 |
97,664,672 (GRCm39) |
missense |
probably benign |
0.00 |
R7655:Rapgef3
|
UTSW |
15 |
97,659,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7656:Rapgef3
|
UTSW |
15 |
97,659,090 (GRCm39) |
missense |
probably damaging |
1.00 |
R7754:Rapgef3
|
UTSW |
15 |
97,655,627 (GRCm39) |
missense |
probably damaging |
1.00 |
R7849:Rapgef3
|
UTSW |
15 |
97,656,271 (GRCm39) |
critical splice donor site |
probably null |
|
R8061:Rapgef3
|
UTSW |
15 |
97,659,401 (GRCm39) |
missense |
probably benign |
|
R8117:Rapgef3
|
UTSW |
15 |
97,648,747 (GRCm39) |
missense |
probably benign |
0.01 |
R8179:Rapgef3
|
UTSW |
15 |
97,658,621 (GRCm39) |
missense |
probably benign |
0.06 |
R8819:Rapgef3
|
UTSW |
15 |
97,646,538 (GRCm39) |
missense |
probably benign |
0.39 |
R8820:Rapgef3
|
UTSW |
15 |
97,646,538 (GRCm39) |
missense |
probably benign |
0.39 |
R8824:Rapgef3
|
UTSW |
15 |
97,664,789 (GRCm39) |
missense |
probably benign |
0.39 |
R9779:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R9781:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
R9782:Rapgef3
|
UTSW |
15 |
97,643,479 (GRCm39) |
missense |
probably damaging |
0.99 |
RF024:Rapgef3
|
UTSW |
15 |
97,658,621 (GRCm39) |
missense |
probably benign |
0.06 |
X0011:Rapgef3
|
UTSW |
15 |
97,659,354 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCAAGTTGCTAAGTCGGGCATC -3'
(R):5'- GTGAGCTATGACTCGGGCTGAAATC -3'
Sequencing Primer
(F):5'- CAAGAGTCAGCCCCTGAGATG -3'
(R):5'- AGAGACGTTCCTCAGTGACTTC -3'
|
Posted On |
2014-04-13 |