Incidental Mutation 'R7754:Rapgef3'
| ID |
597470 |
| 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 |
045810-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R7754 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97655627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 420
(D420G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000146620]
[ENSMUST00000149419]
[ENSMUST00000175894]
[ENSMUST00000177352]
|
| AlphaFold |
Q8VCC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126854
AA Change: D420G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: D420G
| 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 damaging
Transcript: ENSMUST00000128775
AA Change: D420G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: D420G
| 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: D420G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: D420G
| 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 |
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: ENSMUST00000149419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177352
AA Change: D378G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: D378G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930553M12Rik |
A |
T |
4: 88,786,496 (GRCm39) |
W41R |
unknown |
Het |
| Aatf |
G |
A |
11: 84,402,335 (GRCm39) |
S117L |
possibly damaging |
Het |
| Abca12 |
C |
A |
1: 71,342,046 (GRCm39) |
V972L |
probably benign |
Het |
| Abcb11 |
T |
A |
2: 69,117,162 (GRCm39) |
R495S |
probably damaging |
Het |
| Acss2 |
T |
A |
2: 155,403,086 (GRCm39) |
H621Q |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,096,736 (GRCm39) |
L2537P |
probably benign |
Het |
| Apbb1 |
C |
T |
7: 105,208,509 (GRCm39) |
A597T |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 29,797,809 (GRCm39) |
I1448N |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,288,863 (GRCm39) |
E1841K |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,463,371 (GRCm39) |
P1457Q |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,163,145 (GRCm39) |
K331E |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,273,310 (GRCm39) |
Q2534K |
possibly damaging |
Het |
| Cstpp1 |
A |
T |
2: 91,135,188 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
A |
T |
2: 104,087,504 (GRCm39) |
Y491N |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,002,703 (GRCm39) |
I3898V |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,316,277 (GRCm39) |
T346A |
probably benign |
Het |
| Efcab9 |
T |
C |
11: 32,472,941 (GRCm39) |
T169A |
possibly damaging |
Het |
| Fam163a |
A |
T |
1: 155,955,729 (GRCm39) |
I21N |
probably damaging |
Het |
| Fam171a2 |
C |
T |
11: 102,329,389 (GRCm39) |
D457N |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,321,200 (GRCm39) |
|
probably null |
Het |
| Gpr37 |
A |
T |
6: 25,689,049 (GRCm39) |
L16H |
probably damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,330,175 (GRCm39) |
D265G |
probably benign |
Het |
| Idh1 |
G |
T |
1: 65,198,649 (GRCm39) |
A407D |
probably benign |
Het |
| Ifna12 |
A |
G |
4: 88,521,415 (GRCm39) |
M44T |
probably damaging |
Het |
| Il22ra1 |
A |
G |
4: 135,461,561 (GRCm39) |
M109V |
probably benign |
Het |
| Jag2 |
A |
T |
12: 112,879,089 (GRCm39) |
|
probably null |
Het |
| Lca5l |
T |
C |
16: 95,960,761 (GRCm39) |
D572G |
unknown |
Het |
| Lcn11 |
G |
A |
2: 25,667,830 (GRCm39) |
V73I |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,352,704 (GRCm39) |
T1951A |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,860,012 (GRCm39) |
|
probably null |
Het |
| Malrd1 |
G |
A |
2: 15,802,610 (GRCm39) |
|
probably null |
Het |
| Morc2b |
C |
A |
17: 33,356,218 (GRCm39) |
G518V |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Myo5b |
A |
T |
18: 74,767,630 (GRCm39) |
T313S |
probably benign |
Het |
| Neto2 |
C |
A |
8: 86,396,329 (GRCm39) |
L140F |
probably damaging |
Het |
| Nlgn1 |
C |
T |
3: 25,488,467 (GRCm39) |
V623I |
probably damaging |
Het |
| Optc |
A |
G |
1: 133,834,730 (GRCm39) |
S15P |
possibly damaging |
Het |
| Or1e25 |
C |
T |
11: 73,494,332 (GRCm39) |
Q309* |
probably null |
Het |
| Or1l4b |
A |
G |
2: 37,036,858 (GRCm39) |
I211M |
possibly damaging |
Het |
| Or52e19b |
C |
A |
7: 103,032,945 (GRCm39) |
W88L |
probably damaging |
Het |
| Or7c19 |
T |
A |
8: 85,957,427 (GRCm39) |
M101K |
possibly damaging |
Het |
| Or9k2 |
T |
G |
10: 129,998,698 (GRCm39) |
T166P |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,705,407 (GRCm39) |
V640A |
probably damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,823,023 (GRCm39) |
S5P |
probably benign |
Het |
| Pde3a |
A |
T |
6: 141,404,975 (GRCm39) |
E400V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,449,804 (GRCm39) |
I3856V |
possibly damaging |
Het |
| Pld2 |
G |
A |
11: 70,443,695 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
G |
T |
6: 32,129,807 (GRCm39) |
H1839N |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,140,904 (GRCm39) |
V89A |
probably benign |
Het |
| Rnf17 |
T |
A |
14: 56,699,529 (GRCm39) |
|
probably null |
Het |
| Rps6ka2 |
T |
A |
17: 7,544,848 (GRCm39) |
|
probably null |
Het |
| Rptn |
A |
T |
3: 93,303,228 (GRCm39) |
D187V |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,355,203 (GRCm39) |
K248E |
probably damaging |
Het |
| Rtn4rl1 |
A |
T |
11: 75,155,871 (GRCm39) |
H101L |
probably benign |
Het |
| Septin3 |
A |
G |
15: 82,174,974 (GRCm39) |
N305S |
probably benign |
Het |
| Serpina3f |
G |
T |
12: 104,183,565 (GRCm39) |
K142N |
possibly damaging |
Het |
| Ssh1 |
C |
A |
5: 114,104,295 (GRCm39) |
R116L |
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,573,822 (GRCm39) |
T682M |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 65,111,693 (GRCm39) |
K405E |
possibly damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,098,634 (GRCm39) |
A70T |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,618,540 (GRCm39) |
I16248N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,655,849 (GRCm39) |
|
probably null |
Het |
| Vldlr |
A |
T |
19: 27,195,015 (GRCm39) |
M1L |
probably benign |
Het |
| Wscd1 |
A |
G |
11: 71,675,191 (GRCm39) |
H366R |
probably damaging |
Het |
| Zbtb8a |
A |
G |
4: 129,251,496 (GRCm39) |
|
probably null |
Het |
| Zfp827 |
T |
C |
8: 79,916,958 (GRCm39) |
V511A |
|
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 |
|
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 |
|
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'- GCTGCCTCTTGTTGCAGATG -3'
(R):5'- CTTGGCAGGAAGTGATCTTTGC -3'
Sequencing Primer
(F):5'- GTCATACAGGACCCGACTGCTC -3'
(R):5'- CTTGGGTGGAGAGAACTGTCAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation