Incidental Mutation 'R4727:Rapgef3'
| ID |
358565 |
| 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 |
041602-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R4727 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97658481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 175
(L175P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000177352]
[ENSMUST00000175894]
[ENSMUST00000149419]
[ENSMUST00000146620]
|
| AlphaFold |
Q8VCC8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126854
AA Change: L217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: L217P
| 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: L217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: L217P
| 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: L217P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: L217P
| 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: ENSMUST00000153464
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177352
AA Change: L175P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: L175P
| 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: ENSMUST00000153241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146214
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
C |
15: 91,062,489 (GRCm39) |
N483S |
probably benign |
Het |
| Acoxl |
T |
G |
2: 127,820,658 (GRCm39) |
L70R |
probably damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,706,576 (GRCm39) |
F627I |
probably benign |
Het |
| Ash2l |
A |
T |
8: 26,308,623 (GRCm39) |
I552N |
probably damaging |
Het |
| B4galt1 |
A |
G |
4: 40,807,812 (GRCm39) |
S330P |
probably damaging |
Het |
| Bnip3 |
T |
C |
7: 138,500,435 (GRCm39) |
S52G |
probably damaging |
Het |
| Btd |
A |
G |
14: 31,384,278 (GRCm39) |
Q88R |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,566,922 (GRCm39) |
V318A |
probably benign |
Het |
| Cacna1e |
G |
A |
1: 154,312,214 (GRCm39) |
Q1530* |
probably null |
Het |
| Calm1 |
T |
C |
12: 100,166,485 (GRCm39) |
F23S |
probably benign |
Het |
| Cep290 |
T |
G |
10: 100,399,132 (GRCm39) |
I2218R |
probably benign |
Het |
| Ces2c |
T |
C |
8: 105,574,672 (GRCm39) |
I43T |
probably benign |
Het |
| Cyp2d9 |
T |
C |
15: 82,338,602 (GRCm39) |
L1P |
probably null |
Het |
| Dgki |
C |
A |
6: 37,276,748 (GRCm39) |
|
probably benign |
Het |
| Dhh |
A |
G |
15: 98,796,023 (GRCm39) |
L44P |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,594,274 (GRCm39) |
I3409V |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,246,816 (GRCm39) |
R1664H |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 31,070,721 (GRCm39) |
M4469T |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,581,181 (GRCm39) |
I604V |
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,951,418 (GRCm39) |
I599V |
probably benign |
Het |
| Faf1 |
G |
A |
4: 109,697,564 (GRCm39) |
D297N |
probably damaging |
Het |
| Gfra1 |
A |
T |
19: 58,252,386 (GRCm39) |
N380K |
probably damaging |
Het |
| Ghitm |
A |
G |
14: 36,855,700 (GRCm39) |
C8R |
probably damaging |
Het |
| Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
| Itsn2 |
A |
G |
12: 4,757,660 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,266 (GRCm39) |
D260G |
probably damaging |
Het |
| Klf16 |
T |
C |
10: 80,405,020 (GRCm39) |
D164G |
probably damaging |
Het |
| Klhdc7b |
T |
A |
15: 89,271,785 (GRCm39) |
L889Q |
probably damaging |
Het |
| Lcmt2 |
C |
G |
2: 120,969,911 (GRCm39) |
V171L |
probably benign |
Het |
| Lrp11 |
A |
G |
10: 7,466,348 (GRCm39) |
E153G |
probably benign |
Het |
| Lrrc43 |
A |
T |
5: 123,632,366 (GRCm39) |
T170S |
probably damaging |
Het |
| Lsr |
T |
C |
7: 30,665,465 (GRCm39) |
Y163C |
probably damaging |
Het |
| Man1a |
A |
T |
10: 53,783,668 (GRCm39) |
|
probably null |
Het |
| Mmp24 |
C |
T |
2: 155,657,819 (GRCm39) |
P570S |
possibly damaging |
Het |
| Ms4a3 |
A |
G |
19: 11,608,742 (GRCm39) |
M170T |
probably damaging |
Het |
| Naip5 |
C |
A |
13: 100,358,378 (GRCm39) |
A953S |
possibly damaging |
Het |
| Nfrkb |
T |
C |
9: 31,314,919 (GRCm39) |
S580P |
probably damaging |
Het |
| Or51q1c |
T |
G |
7: 103,653,097 (GRCm39) |
V205G |
probably benign |
Het |
| Or8b38 |
T |
C |
9: 37,973,389 (GRCm39) |
Y258H |
probably damaging |
Het |
| Padi6 |
T |
G |
4: 140,458,506 (GRCm39) |
D462A |
probably damaging |
Het |
| Pde6a |
A |
G |
18: 61,364,561 (GRCm39) |
R206G |
probably benign |
Het |
| Plk4 |
A |
G |
3: 40,759,589 (GRCm39) |
N162D |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,717,721 (GRCm39) |
D1922E |
probably benign |
Het |
| Rangap1 |
G |
A |
15: 81,613,956 (GRCm39) |
|
probably benign |
Het |
| Rps6kb1 |
G |
C |
11: 86,435,484 (GRCm39) |
|
probably null |
Het |
| Satb1 |
T |
C |
17: 52,111,375 (GRCm39) |
Y161C |
probably damaging |
Het |
| Sel1l3 |
C |
A |
5: 53,301,525 (GRCm39) |
|
probably null |
Het |
| Slc17a7 |
C |
T |
7: 44,822,358 (GRCm39) |
S398L |
possibly damaging |
Het |
| Slc22a4 |
T |
A |
11: 53,918,477 (GRCm39) |
E109V |
possibly damaging |
Het |
| Slc26a7 |
C |
T |
4: 14,590,477 (GRCm39) |
A105T |
probably damaging |
Het |
| Slc47a1 |
T |
C |
11: 61,254,277 (GRCm39) |
N145S |
possibly damaging |
Het |
| Tank |
A |
G |
2: 61,483,876 (GRCm39) |
T441A |
probably benign |
Het |
| Tefm |
T |
C |
11: 80,031,279 (GRCm39) |
|
probably benign |
Het |
| Ttbk2 |
T |
C |
2: 120,575,851 (GRCm39) |
Y1042C |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,077,894 (GRCm39) |
Q892R |
probably damaging |
Het |
| Wdr33 |
T |
A |
18: 32,021,500 (GRCm39) |
H683Q |
unknown |
Het |
| Zfp36l2 |
T |
A |
17: 84,495,089 (GRCm39) |
I12F |
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,291,170 (GRCm39) |
M2145K |
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 |
|
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 |
|
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'- CTACACCCTCAGGAATAGGAGAG -3'
(R):5'- TGATTGGGCACTAGGACTGG -3'
Sequencing Primer
(F):5'- CCCTCAGGAATAGGAGAGATGGTC -3'
(R):5'- ACCGCTGGATTAAGGCATTC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation