Incidental Mutation 'R2092:Rapgef3'
| ID |
231873 |
| 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 |
040097-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R2092 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97658604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 134
(D134G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135238
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000146620]
[ENSMUST00000177352]
[ENSMUST00000149419]
[ENSMUST00000175894]
|
| AlphaFold |
Q8VCC8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126854
AA Change: D176G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: D176G
| 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: D176G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: D176G
| 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: D176G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: D176G
| 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 damaging
Transcript: ENSMUST00000146620
AA Change: D134G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116673
Gene: ENSMUSG00000022469
AA Change: D134G
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
69 |
144 |
2.05e-25 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177352
AA Change: D134G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: D134G
| 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: ENSMUST00000153464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149373
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,651,896 (GRCm39) |
C1321* |
probably null |
Het |
| Abca8b |
A |
G |
11: 109,857,534 (GRCm39) |
F673L |
possibly damaging |
Het |
| Adam19 |
T |
G |
11: 45,951,731 (GRCm39) |
|
probably null |
Het |
| AI987944 |
T |
C |
7: 41,024,041 (GRCm39) |
T313A |
possibly damaging |
Het |
| Akap13 |
A |
T |
7: 75,260,318 (GRCm39) |
I178F |
probably benign |
Het |
| Alb |
G |
GA |
5: 90,611,842 (GRCm39) |
|
probably null |
Het |
| Bod1l |
A |
G |
5: 41,988,860 (GRCm39) |
S416P |
probably damaging |
Het |
| Casr |
A |
T |
16: 36,330,405 (GRCm39) |
Y310N |
possibly damaging |
Het |
| Cela3a |
T |
C |
4: 137,131,737 (GRCm39) |
N152S |
probably benign |
Het |
| Chrdl2 |
T |
A |
7: 99,670,184 (GRCm39) |
C102* |
probably null |
Het |
| Col4a4 |
G |
A |
1: 82,476,667 (GRCm39) |
S554L |
unknown |
Het |
| Col6a4 |
T |
C |
9: 105,937,530 (GRCm39) |
K1392R |
probably damaging |
Het |
| Dab1 |
T |
G |
4: 104,535,974 (GRCm39) |
Y128D |
probably damaging |
Het |
| Dars1 |
A |
T |
1: 128,301,755 (GRCm39) |
M293K |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,950,912 (GRCm39) |
F493L |
possibly damaging |
Het |
| Dmbt1 |
G |
T |
7: 130,651,748 (GRCm39) |
W330L |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 117,976,451 (GRCm39) |
M831K |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,897,545 (GRCm39) |
N715S |
possibly damaging |
Het |
| Edc4 |
T |
A |
8: 106,614,160 (GRCm39) |
L12Q |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,550,969 (GRCm39) |
M333V |
probably benign |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Fto |
C |
A |
8: 92,136,315 (GRCm39) |
Y194* |
probably null |
Het |
| Gnptab |
T |
G |
10: 88,276,167 (GRCm39) |
Y1151* |
probably null |
Het |
| Grm1 |
A |
G |
10: 10,564,969 (GRCm39) |
L1113P |
probably benign |
Het |
| Hnrnpa0 |
T |
C |
13: 58,275,614 (GRCm39) |
K172E |
probably damaging |
Het |
| Ifitm1 |
A |
G |
7: 140,549,427 (GRCm39) |
D70G |
probably damaging |
Het |
| Irx4 |
C |
A |
13: 73,413,605 (GRCm39) |
T25K |
probably damaging |
Het |
| Kif22 |
C |
T |
7: 126,632,802 (GRCm39) |
D195N |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,366,365 (GRCm39) |
D245N |
probably benign |
Het |
| Lyz1 |
C |
T |
10: 117,124,504 (GRCm39) |
R144Q |
probably benign |
Het |
| Macf1 |
T |
A |
4: 123,276,971 (GRCm39) |
T6055S |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Myh9 |
G |
A |
15: 77,648,550 (GRCm39) |
Q80* |
probably null |
Het |
| Myo6 |
G |
T |
9: 80,152,964 (GRCm39) |
R199L |
probably damaging |
Het |
| Naglu |
G |
A |
11: 100,967,546 (GRCm39) |
V499I |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,869,465 (GRCm39) |
F140S |
probably benign |
Het |
| Or4p8 |
A |
G |
2: 88,727,611 (GRCm39) |
F110S |
probably damaging |
Het |
| Or52ab7 |
G |
A |
7: 102,978,316 (GRCm39) |
V208M |
probably damaging |
Het |
| Or52z1 |
A |
T |
7: 103,437,279 (GRCm39) |
F68L |
possibly damaging |
Het |
| Or5b102 |
T |
A |
19: 13,041,166 (GRCm39) |
Y130* |
probably null |
Het |
| Or5p81 |
CAAATA |
CA |
7: 108,266,869 (GRCm39) |
|
probably null |
Het |
| Or8g21 |
A |
T |
9: 38,906,485 (GRCm39) |
L82Q |
probably damaging |
Het |
| Otop1 |
A |
T |
5: 38,457,110 (GRCm39) |
I290F |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,489,007 (GRCm39) |
D203N |
probably damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,547,240 (GRCm39) |
I772N |
probably benign |
Het |
| Pnliprp1 |
A |
G |
19: 58,729,616 (GRCm39) |
H423R |
probably benign |
Het |
| Ptk2 |
A |
T |
15: 73,108,040 (GRCm39) |
Y56* |
probably null |
Het |
| Scaf11 |
A |
C |
15: 96,313,708 (GRCm39) |
S1358A |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,363,720 (GRCm39) |
M844V |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,858,002 (GRCm39) |
E1121G |
probably damaging |
Het |
| Slc25a15 |
T |
C |
8: 22,870,950 (GRCm39) |
T176A |
probably damaging |
Het |
| Slc29a4 |
T |
A |
5: 142,704,610 (GRCm39) |
I384N |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,948,614 (GRCm39) |
D555E |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,216,263 (GRCm39) |
I446V |
probably benign |
Het |
| St6gal2 |
T |
C |
17: 55,817,267 (GRCm39) |
Y477H |
probably damaging |
Het |
| Syngr1 |
A |
T |
15: 80,000,141 (GRCm39) |
Q84L |
possibly damaging |
Het |
| Tedc1 |
T |
C |
12: 113,121,340 (GRCm39) |
L187P |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,721,456 (GRCm39) |
I322V |
probably null |
Het |
| Thap12 |
T |
C |
7: 98,365,656 (GRCm39) |
V608A |
possibly damaging |
Het |
| Tmbim6 |
T |
C |
15: 99,299,949 (GRCm39) |
S22P |
probably damaging |
Het |
| Ttc3 |
C |
T |
16: 94,243,691 (GRCm39) |
P1232S |
probably benign |
Het |
| Upk3a |
A |
G |
15: 84,902,286 (GRCm39) |
T38A |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,554,442 (GRCm39) |
M1549K |
probably benign |
Het |
| Vmn1r176 |
C |
T |
7: 23,534,578 (GRCm39) |
D192N |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,538,885 (GRCm39) |
T35A |
possibly damaging |
Het |
| Xkr7 |
C |
T |
2: 152,895,983 (GRCm39) |
S279L |
probably damaging |
Het |
| Zer1 |
G |
A |
2: 29,998,286 (GRCm39) |
L342F |
probably damaging |
Het |
| Zfp641 |
G |
T |
15: 98,191,593 (GRCm39) |
T31N |
probably benign |
Het |
| Zfp74 |
G |
A |
7: 29,653,349 (GRCm39) |
|
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 |
|
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'- AGCAGAAGCAGGCTCTTCAC -3'
(R):5'- CTGATTGGGCACTAGGACTG -3'
Sequencing Primer
(F):5'- GAAGCAGGCTCTTCACTCACG -3'
(R):5'- TAAGGCTGAGACCCCTTGTG -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation