Incidental Mutation 'R4624:Rapgef3'
ID |
346452 |
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 |
041889-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
R4624 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 97656810 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 318
(D318E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118148
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000177352]
[ENSMUST00000146620]
[ENSMUST00000175894]
[ENSMUST00000149419]
|
AlphaFold |
Q8VCC8 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000126854
AA Change: D318E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116426 Gene: ENSMUSG00000022469 AA Change: D318E
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 |
possibly damaging
Transcript: ENSMUST00000128775
AA Change: D318E
PolyPhen 2
Score 0.832 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000120126 Gene: ENSMUSG00000022469 AA Change: D318E
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 damaging
Transcript: ENSMUST00000129223
AA Change: D318E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118148 Gene: ENSMUSG00000022469 AA Change: D318E
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 |
noncoding transcript
Transcript: ENSMUST00000153241
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177352
AA Change: D276E
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000135238 Gene: ENSMUSG00000022469 AA Change: D276E
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: ENSMUST00000149373
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153464
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146214
|
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149419
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
93% (85/91) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5730409E04Rik |
A |
G |
4: 126,505,873 (GRCm39) |
T134A |
possibly damaging |
Het |
Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
Adgb |
C |
A |
10: 10,278,748 (GRCm39) |
V267L |
probably benign |
Het |
Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,225,128 (GRCm39) |
H863R |
probably damaging |
Het |
Ap3b1 |
A |
G |
13: 94,619,734 (GRCm39) |
R766G |
unknown |
Het |
Apol7c |
A |
G |
15: 77,410,595 (GRCm39) |
F117S |
probably damaging |
Het |
Bcr |
A |
T |
10: 74,989,752 (GRCm39) |
E716V |
probably damaging |
Het |
Borcs6 |
T |
C |
11: 68,951,423 (GRCm39) |
L267P |
probably damaging |
Het |
Ccdc184 |
A |
T |
15: 98,066,638 (GRCm39) |
N148Y |
probably benign |
Het |
Ccdc50 |
A |
G |
16: 27,255,351 (GRCm39) |
K223R |
probably null |
Het |
Cd2 |
T |
G |
3: 101,194,747 (GRCm39) |
K114Q |
probably benign |
Het |
Cdh19 |
T |
C |
1: 110,859,981 (GRCm39) |
K167E |
probably benign |
Het |
Cep131 |
T |
C |
11: 119,961,658 (GRCm39) |
E558G |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,200,059 (GRCm39) |
V3423E |
probably damaging |
Het |
Cnot6l |
A |
G |
5: 96,225,070 (GRCm39) |
V541A |
probably benign |
Het |
Cntn5 |
A |
T |
9: 9,704,809 (GRCm39) |
C663* |
probably null |
Het |
Dnaaf4 |
A |
G |
9: 72,871,453 (GRCm39) |
I238V |
probably benign |
Het |
Dnah12 |
T |
C |
14: 26,456,913 (GRCm39) |
I893T |
possibly damaging |
Het |
Dop1a |
G |
A |
9: 86,403,578 (GRCm39) |
V129M |
probably damaging |
Het |
Exoc6b |
A |
G |
6: 84,831,791 (GRCm39) |
|
probably benign |
Het |
Ext2 |
A |
G |
2: 93,533,545 (GRCm39) |
V671A |
probably benign |
Het |
Fcamr |
T |
G |
1: 130,730,999 (GRCm39) |
L28R |
probably damaging |
Het |
Fer1l6 |
T |
C |
15: 58,425,554 (GRCm39) |
I144T |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,907,343 (GRCm39) |
L839P |
probably damaging |
Het |
Fscn2 |
A |
T |
11: 120,258,169 (GRCm39) |
I364F |
probably benign |
Het |
Gm10291 |
T |
C |
3: 78,824,581 (GRCm39) |
|
noncoding transcript |
Het |
Gm29125 |
T |
C |
1: 80,362,676 (GRCm39) |
|
noncoding transcript |
Het |
Grin2b |
T |
C |
6: 135,710,823 (GRCm39) |
M908V |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,881,101 (GRCm39) |
E436G |
probably damaging |
Het |
Hfe |
A |
T |
13: 23,890,061 (GRCm39) |
C149* |
probably null |
Het |
Hs1bp3 |
T |
C |
12: 8,386,357 (GRCm39) |
V253A |
probably benign |
Het |
Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
Kcnh3 |
T |
A |
15: 99,124,253 (GRCm39) |
D47E |
probably damaging |
Het |
Kcp |
A |
G |
6: 29,482,813 (GRCm39) |
F1419L |
possibly damaging |
Het |
Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
Klhl24 |
A |
G |
16: 19,938,873 (GRCm39) |
D476G |
probably damaging |
Het |
Krt79 |
T |
A |
15: 101,848,241 (GRCm39) |
T137S |
possibly damaging |
Het |
Lilrb4a |
A |
G |
10: 51,367,584 (GRCm39) |
Y42C |
probably damaging |
Het |
Lnx1 |
C |
T |
5: 74,821,121 (GRCm39) |
|
probably benign |
Het |
Map3k14 |
A |
G |
11: 103,121,927 (GRCm39) |
Y497H |
probably damaging |
Het |
Mmut |
G |
A |
17: 41,257,946 (GRCm39) |
E371K |
probably damaging |
Het |
Nkx2-6 |
A |
G |
14: 69,412,375 (GRCm39) |
Q181R |
probably damaging |
Het |
Notch1 |
T |
C |
2: 26,368,093 (GRCm39) |
K631R |
possibly damaging |
Het |
Or5an10 |
C |
T |
19: 12,276,347 (GRCm39) |
V50I |
probably benign |
Het |
Pcdh9 |
T |
A |
14: 94,123,845 (GRCm39) |
N775I |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,575,341 (GRCm39) |
|
probably benign |
Het |
Pick1 |
T |
A |
15: 79,130,666 (GRCm39) |
I250N |
probably damaging |
Het |
Plec |
T |
C |
15: 76,059,335 (GRCm39) |
E3556G |
probably damaging |
Het |
Prex2 |
C |
T |
1: 11,359,489 (GRCm39) |
Q1566* |
probably null |
Het |
Ptgr2 |
T |
G |
12: 84,355,128 (GRCm39) |
F287L |
possibly damaging |
Het |
Ptprv |
T |
C |
1: 135,051,869 (GRCm39) |
|
noncoding transcript |
Het |
Rab5b |
G |
T |
10: 128,519,130 (GRCm39) |
H83Q |
probably benign |
Het |
Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
Rsrc1 |
T |
C |
3: 67,257,311 (GRCm39) |
V241A |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 12,121,301 (GRCm39) |
I11N |
possibly damaging |
Het |
S100a11 |
T |
C |
3: 93,433,321 (GRCm39) |
L55P |
probably damaging |
Het |
Sec13 |
A |
G |
6: 113,706,652 (GRCm39) |
S254P |
probably benign |
Het |
Slc25a36 |
G |
A |
9: 96,961,178 (GRCm39) |
T147I |
probably damaging |
Het |
Spata31d1c |
A |
G |
13: 65,184,411 (GRCm39) |
E651G |
probably benign |
Het |
Stox2 |
C |
A |
8: 47,646,851 (GRCm39) |
R203L |
probably damaging |
Het |
Tbc1d30 |
A |
T |
10: 121,132,691 (GRCm39) |
D224E |
probably damaging |
Het |
Tdrd6 |
A |
G |
17: 43,936,881 (GRCm39) |
L1389P |
probably damaging |
Het |
Tmprss11b |
T |
C |
5: 86,812,895 (GRCm39) |
S134G |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
Tnnt1 |
G |
A |
7: 4,515,267 (GRCm39) |
|
probably benign |
Het |
Tpst2 |
A |
G |
5: 112,456,162 (GRCm39) |
M234V |
probably damaging |
Het |
Ttbk2 |
T |
C |
2: 120,603,804 (GRCm39) |
D208G |
probably benign |
Het |
Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
Unc45b |
T |
A |
11: 82,816,835 (GRCm39) |
M425K |
probably benign |
Het |
Uvssa |
G |
A |
5: 33,547,300 (GRCm39) |
E289K |
possibly damaging |
Het |
Vmn2r11 |
T |
A |
5: 109,200,101 (GRCm39) |
R451W |
probably damaging |
Het |
Vmn2r45 |
T |
C |
7: 8,484,341 (GRCm39) |
Y488C |
probably damaging |
Het |
Vmn2r55 |
T |
A |
7: 12,404,627 (GRCm39) |
I259F |
possibly damaging |
Het |
Wdfy3 |
C |
T |
5: 102,031,949 (GRCm39) |
R2277Q |
possibly damaging |
Het |
Wdr64 |
T |
G |
1: 175,599,829 (GRCm39) |
M111R |
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 |
R1512:Rapgef3
|
UTSW |
15 |
97,655,382 (GRCm39) |
missense |
probably benign |
0.24 |
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 |
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'- TTCTCTCACGCCAAACTGTG -3'
(R):5'- ATGGACACTCCCTTTGATAGCC -3'
Sequencing Primer
(F):5'- GATCCCAAGTGTCCTTACAAATTC -3'
(R):5'- CCCTTTGATAGCCCCAAGG -3'
|
Posted On |
2015-09-25 |