Incidental Mutation 'R9779:Rapgef3'
| ID |
733935 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R9779 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97643479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 911
(I911V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116426
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134885]
[ENSMUST00000175894]
[ENSMUST00000177352]
|
| AlphaFold |
Q8VCC8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126854
AA Change: I911V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: I911V
| 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: I894V
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: I894V
| 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: I903V
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: I903V
| 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 damaging
Transcript: ENSMUST00000134885
AA Change: I201V
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000135317
Gene: ENSMUSG00000022469
AA Change: I201V
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEF
|
1 |
216 |
2.91e-56 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177352
AA Change: I869V
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: I869V
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
G |
11: 53,263,734 (GRCm39) |
Y251* |
probably null |
Het |
| Amdhd1 |
G |
T |
10: 93,370,474 (GRCm39) |
F121L |
possibly damaging |
Het |
| Apon |
A |
T |
10: 128,091,065 (GRCm39) |
T248S |
probably benign |
Het |
| Arhgap28 |
A |
T |
17: 68,152,764 (GRCm39) |
I719K |
probably benign |
Het |
| Atf7ip2 |
A |
T |
16: 10,055,044 (GRCm39) |
K270N |
possibly damaging |
Het |
| Atp2c1 |
A |
G |
9: 105,291,919 (GRCm39) |
V881A |
probably damaging |
Het |
| Atp6v0a1 |
C |
T |
11: 100,924,938 (GRCm39) |
T341M |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,968,348 (GRCm39) |
V944A |
probably damaging |
Het |
| Cplane1 |
C |
A |
15: 8,230,786 (GRCm39) |
T1021K |
possibly damaging |
Het |
| Cyp26b1 |
T |
C |
6: 84,552,113 (GRCm39) |
T342A |
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,998,323 (GRCm39) |
E405G |
probably benign |
Het |
| Dab2 |
T |
C |
15: 6,460,525 (GRCm39) |
S478P |
probably benign |
Het |
| Diablo |
A |
G |
5: 123,662,132 (GRCm39) |
|
probably null |
Het |
| Dnajc8 |
A |
G |
4: 132,277,737 (GRCm39) |
E174G |
possibly damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,498,251 (GRCm39) |
V336A |
probably damaging |
Het |
| Eif5a |
C |
T |
11: 69,810,021 (GRCm39) |
V41I |
probably benign |
Het |
| Epb41l5 |
C |
T |
1: 119,545,093 (GRCm39) |
|
probably null |
Het |
| F12 |
A |
C |
13: 55,566,012 (GRCm39) |
V565G |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,717,353 (GRCm39) |
T389N |
probably damaging |
Het |
| Galnt13 |
T |
A |
2: 54,623,062 (GRCm39) |
D69E |
probably benign |
Het |
| Golph3l |
C |
T |
3: 95,499,041 (GRCm39) |
T61I |
probably damaging |
Het |
| Grm3 |
A |
T |
5: 9,561,656 (GRCm39) |
N731K |
possibly damaging |
Het |
| Hmgxb4 |
C |
T |
8: 75,750,629 (GRCm39) |
S484F |
possibly damaging |
Het |
| Hsd17b11 |
C |
A |
5: 104,157,771 (GRCm39) |
V114F |
probably damaging |
Het |
| Hspa1a |
C |
T |
17: 35,190,778 (GRCm39) |
V42M |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,654,065 (GRCm39) |
Y201C |
probably damaging |
Het |
| Inf2 |
C |
A |
12: 112,574,786 (GRCm39) |
P786T |
unknown |
Het |
| Ints12 |
T |
G |
3: 132,812,752 (GRCm39) |
V236G |
probably benign |
Het |
| Itga2b |
T |
C |
11: 102,348,147 (GRCm39) |
N818S |
probably damaging |
Het |
| Itgb4 |
T |
C |
11: 115,882,485 (GRCm39) |
L853P |
probably damaging |
Het |
| Kap |
A |
G |
6: 133,829,006 (GRCm39) |
V42A |
probably benign |
Het |
| Kcnk1 |
T |
C |
8: 126,751,807 (GRCm39) |
S138P |
probably damaging |
Het |
| Klra2 |
G |
A |
6: 131,198,801 (GRCm39) |
P247S |
unknown |
Het |
| Lrba |
T |
C |
3: 86,233,078 (GRCm39) |
I813T |
probably damaging |
Het |
| Lrrc27 |
A |
T |
7: 138,816,886 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Macf1 |
G |
A |
4: 123,348,789 (GRCm39) |
T4046I |
probably benign |
Het |
| Mast3 |
T |
C |
8: 71,238,127 (GRCm39) |
T521A |
probably damaging |
Het |
| Meox1 |
T |
C |
11: 101,769,470 (GRCm39) |
E242G |
probably benign |
Het |
| Neo1 |
A |
T |
9: 58,886,009 (GRCm39) |
L316* |
probably null |
Het |
| Notch3 |
A |
G |
17: 32,372,757 (GRCm39) |
Y605H |
probably damaging |
Het |
| Nsf |
T |
C |
11: 103,719,352 (GRCm39) |
D650G |
probably damaging |
Het |
| Obscn |
C |
A |
11: 59,026,441 (GRCm39) |
R254L |
probably benign |
Het |
| Odam |
G |
A |
5: 88,037,327 (GRCm39) |
|
probably null |
Het |
| Or5v1b |
A |
T |
17: 37,841,048 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7g12 |
A |
T |
9: 18,900,135 (GRCm39) |
M284L |
probably benign |
Het |
| Pcdhb9 |
A |
T |
18: 37,535,253 (GRCm39) |
M416L |
probably benign |
Het |
| Plcz1 |
A |
T |
6: 139,947,882 (GRCm39) |
I500N |
possibly damaging |
Het |
| Prkn |
T |
C |
17: 11,854,318 (GRCm39) |
S285P |
possibly damaging |
Het |
| Rab14 |
G |
A |
2: 35,080,047 (GRCm39) |
T50I |
|
Het |
| Rag1 |
A |
T |
2: 101,474,153 (GRCm39) |
Y330N |
probably damaging |
Het |
| Rasgrf1 |
G |
T |
9: 89,873,551 (GRCm39) |
C620F |
probably damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,214,317 (GRCm39) |
T143A |
probably damaging |
Het |
| Robo2 |
A |
C |
16: 73,767,965 (GRCm39) |
M609R |
probably damaging |
Het |
| Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
| Slc49a4 |
T |
C |
16: 35,543,186 (GRCm39) |
D316G |
probably benign |
Het |
| Sod3 |
G |
A |
5: 52,525,435 (GRCm39) |
V45I |
probably benign |
Het |
| Ticrr |
A |
G |
7: 79,328,802 (GRCm39) |
D647G |
probably benign |
Het |
| Tmem119 |
G |
A |
5: 113,933,204 (GRCm39) |
S199L |
possibly damaging |
Het |
| Tmem63c |
T |
A |
12: 87,104,419 (GRCm39) |
I80N |
probably damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,066,469 (GRCm39) |
D752E |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,550,570 (GRCm39) |
S31571P |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,667,146 (GRCm39) |
S11487T |
unknown |
Het |
| Vmn1r123 |
T |
C |
7: 20,896,111 (GRCm39) |
M1T |
probably null |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,308 (GRCm39) |
S279T |
probably benign |
Het |
| Vps13d |
A |
G |
4: 144,798,972 (GRCm39) |
V3635A |
|
Het |
| Wdr95 |
A |
G |
5: 149,505,293 (GRCm39) |
D358G |
probably benign |
Het |
| Zfp1005 |
A |
G |
2: 150,108,064 (GRCm39) |
D8G |
possibly damaging |
Het |
| Zfp764l1 |
A |
T |
7: 126,991,469 (GRCm39) |
C173S |
probably damaging |
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 |
|
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 |
|
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'- TCATCACAGGGACAACTGCC -3'
(R):5'- CGGAGGGACCTTCTTTCTTCAG -3'
Sequencing Primer
(F):5'- GACACTGCCCACTCCAGG -3'
(R):5'- GAGGGACCTTCTTTCTTCAGACTTTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation