Incidental Mutation 'R8179:Rapgef3'
| ID |
634578 |
| 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 |
067604-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R8179 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 97658621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 170
(H170Q)
|
| 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 benign
Transcript: ENSMUST00000126854
AA Change: H170Q
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: H170Q
| 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 benign
Transcript: ENSMUST00000128775
AA Change: H170Q
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: H170Q
| 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 benign
Transcript: ENSMUST00000129223
AA Change: H170Q
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: H170Q
| 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
AA Change: H128Q
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116673
Gene: ENSMUSG00000022469
AA Change: H128Q
| 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 benign
Transcript: ENSMUST00000177352
AA Change: H128Q
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: H128Q
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
G |
11: 110,136,100 (GRCm39) |
Y170H |
probably damaging |
Het |
| Ace3 |
G |
T |
11: 105,895,383 (GRCm39) |
V602L |
probably benign |
Het |
| Ahr |
T |
C |
12: 35,560,050 (GRCm39) |
Q201R |
probably benign |
Het |
| Aldh18a1 |
A |
C |
19: 40,545,952 (GRCm39) |
C612G |
probably damaging |
Het |
| Ankrd40 |
G |
A |
11: 94,225,541 (GRCm39) |
A191T |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,137,117 (GRCm39) |
D1169G |
probably damaging |
Het |
| Arfgap2 |
T |
C |
2: 91,105,668 (GRCm39) |
F505L |
probably damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,381,776 (GRCm39) |
F423L |
probably damaging |
Het |
| Atf6b |
T |
C |
17: 34,872,968 (GRCm39) |
M628T |
probably damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,643,939 (GRCm39) |
L1004* |
probably null |
Het |
| Cc2d2a |
T |
A |
5: 43,857,295 (GRCm39) |
L494Q |
probably damaging |
Het |
| Cd180 |
T |
C |
13: 102,842,141 (GRCm39) |
S396P |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,270,368 (GRCm39) |
I59T |
possibly damaging |
Het |
| Cfap54 |
G |
T |
10: 92,833,178 (GRCm39) |
F1149L |
possibly damaging |
Het |
| Chp1 |
C |
T |
2: 119,378,253 (GRCm39) |
|
probably benign |
Het |
| Clmp |
T |
C |
9: 40,692,475 (GRCm39) |
F248S |
probably benign |
Het |
| Ctc1 |
T |
A |
11: 68,915,050 (GRCm39) |
I237K |
probably benign |
Het |
| Dcaf1 |
G |
T |
9: 106,735,115 (GRCm39) |
V688L |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,765,167 (GRCm39) |
M812K |
probably benign |
Het |
| Disc1 |
C |
T |
8: 125,814,316 (GRCm39) |
P60L |
probably benign |
Het |
| Disp2 |
C |
G |
2: 118,623,030 (GRCm39) |
P1254R |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 117,842,284 (GRCm39) |
I4432F |
possibly damaging |
Het |
| Dnajc15 |
A |
T |
14: 78,090,393 (GRCm39) |
I58N |
|
Het |
| Elovl5 |
A |
G |
9: 77,884,181 (GRCm39) |
N159S |
probably damaging |
Het |
| Fgfr3 |
T |
C |
5: 33,885,099 (GRCm39) |
V71A |
probably benign |
Het |
| Frs2 |
A |
T |
10: 116,912,791 (GRCm39) |
H167Q |
probably damaging |
Het |
| Gm4553 |
A |
T |
7: 141,718,594 (GRCm39) |
V278E |
unknown |
Het |
| Grin2d |
A |
T |
7: 45,507,452 (GRCm39) |
Y416* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,598,265 (GRCm39) |
V1679E |
probably benign |
Het |
| Igkv18-36 |
T |
C |
6: 69,969,479 (GRCm39) |
Y105C |
probably damaging |
Het |
| Lingo1 |
T |
C |
9: 56,527,134 (GRCm39) |
D491G |
probably damaging |
Het |
| Map3k1 |
A |
C |
13: 111,885,581 (GRCm39) |
I1445M |
probably damaging |
Het |
| Med30 |
A |
T |
15: 52,575,964 (GRCm39) |
Q20L |
probably damaging |
Het |
| Mgat5b |
A |
G |
11: 116,822,554 (GRCm39) |
E96G |
probably benign |
Het |
| Mmp16 |
T |
A |
4: 17,853,854 (GRCm39) |
|
probably null |
Het |
| Mogat1 |
A |
G |
1: 78,504,255 (GRCm39) |
D176G |
possibly damaging |
Het |
| Mre11a |
T |
A |
9: 14,708,362 (GRCm39) |
D142E |
probably null |
Het |
| Mybpc2 |
C |
A |
7: 44,159,254 (GRCm39) |
V599L |
probably benign |
Het |
| Myot |
A |
T |
18: 44,487,197 (GRCm39) |
R345* |
probably null |
Het |
| Or10d5 |
G |
A |
9: 39,861,708 (GRCm39) |
R120C |
probably benign |
Het |
| Or10z1 |
T |
G |
1: 174,078,130 (GRCm39) |
D121A |
possibly damaging |
Het |
| Or8g53 |
C |
T |
9: 39,683,200 (GRCm39) |
V299I |
probably benign |
Het |
| Pglyrp2 |
T |
C |
17: 32,635,003 (GRCm39) |
Y453C |
possibly damaging |
Het |
| Phrf1 |
A |
G |
7: 140,836,493 (GRCm39) |
Y255C |
unknown |
Het |
| Plppr4 |
A |
G |
3: 117,125,327 (GRCm39) |
S171P |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,172,095 (GRCm39) |
|
probably null |
Het |
| Pramel57 |
T |
C |
5: 95,667,753 (GRCm39) |
V111A |
probably benign |
Het |
| Rnf10 |
ACCTCATCTCGTC |
AC |
5: 115,398,176 (GRCm39) |
|
probably null |
Het |
| Rpe65 |
A |
G |
3: 159,330,336 (GRCm39) |
Y501C |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,072,196 (GRCm39) |
I346T |
probably damaging |
Het |
| Sema3g |
A |
G |
14: 30,942,542 (GRCm39) |
I48V |
probably benign |
Het |
| Slc4a10 |
A |
C |
2: 62,073,792 (GRCm39) |
S285R |
possibly damaging |
Het |
| Slc6a11 |
G |
A |
6: 114,222,567 (GRCm39) |
G521S |
probably benign |
Het |
| Slit3 |
A |
G |
11: 35,554,903 (GRCm39) |
N912D |
probably benign |
Het |
| Traf3ip1 |
T |
C |
1: 91,428,523 (GRCm39) |
V128A |
unknown |
Het |
| Trpc7 |
T |
A |
13: 57,035,693 (GRCm39) |
N80I |
probably damaging |
Het |
| Ttc21b |
G |
A |
2: 66,031,824 (GRCm39) |
H1031Y |
probably benign |
Het |
| Tubg2 |
A |
T |
11: 101,051,082 (GRCm39) |
I235F |
probably benign |
Het |
| Ube2q2l |
A |
G |
6: 136,378,240 (GRCm39) |
S197P |
probably damaging |
Het |
| Vmn2r118 |
A |
T |
17: 55,915,484 (GRCm39) |
Y489N |
probably benign |
Het |
| Vmn2r54 |
G |
T |
7: 12,366,018 (GRCm39) |
C305* |
probably null |
Het |
| Vmn2r86 |
G |
A |
10: 130,288,953 (GRCm39) |
H183Y |
probably benign |
Het |
| Xrcc5 |
T |
C |
1: 72,396,016 (GRCm39) |
V603A |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,578,498 (GRCm39) |
Y136* |
probably null |
Het |
| Zfp112 |
C |
T |
7: 23,825,063 (GRCm39) |
P348S |
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 |
|
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 |
|
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'- AAGCAGGCTCTTCACTCACG -3'
(R):5'- CTCTGATTGGGCACTAGGACTG -3'
Sequencing Primer
(F):5'- AGGCTCTTCACTCACGGCTTC -3'
(R):5'- TAAGGCTGAGACCCCTTGTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation