Incidental Mutation 'R7380:Rapgef3'
ID |
572670 |
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 |
045462-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.268)
|
Stock # |
R7380 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 97664672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 64
(R64S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116426
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134885]
[ENSMUST00000135080]
[ENSMUST00000146620]
[ENSMUST00000149419]
[ENSMUST00000175894]
[ENSMUST00000177352]
|
AlphaFold |
Q8VCC8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000126854
AA Change: R64S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000116426 Gene: ENSMUSG00000022469 AA Change: R64S
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: R64S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000120126 Gene: ENSMUSG00000022469 AA Change: R64S
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: R64S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000118148 Gene: ENSMUSG00000022469 AA Change: R64S
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: 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: ENSMUST00000135080
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146620
AA Change: R22S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000116673 Gene: ENSMUSG00000022469 AA Change: R22S
Domain | Start | End | E-Value | Type |
DEP
|
69 |
144 |
2.05e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149419
AA Change: R22S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000175894
AA Change: R64S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177352
AA Change: R22S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000135238 Gene: ENSMUSG00000022469 AA Change: R22S
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: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
98% (79/81) |
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: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030J22Rik |
T |
C |
8: 117,700,376 (GRCm39) |
T9A |
probably benign |
Het |
Abcc5 |
A |
T |
16: 20,215,784 (GRCm39) |
S414R |
possibly damaging |
Het |
Acads |
C |
A |
5: 115,249,057 (GRCm39) |
Q365H |
probably damaging |
Het |
Ankib1 |
G |
T |
5: 3,772,576 (GRCm39) |
Q487K |
probably benign |
Het |
BC034090 |
T |
G |
1: 155,108,229 (GRCm39) |
S11R |
probably damaging |
Het |
Car12 |
A |
G |
9: 66,654,945 (GRCm39) |
N125S |
probably benign |
Het |
Casq1 |
A |
G |
1: 172,044,416 (GRCm39) |
V137A |
probably benign |
Het |
Cfap54 |
C |
A |
10: 92,883,840 (GRCm39) |
V305F |
probably damaging |
Het |
Clstn3 |
T |
C |
6: 124,433,948 (GRCm39) |
E404G |
probably benign |
Het |
Copg1 |
T |
G |
6: 87,870,824 (GRCm39) |
L209R |
probably damaging |
Het |
Cpb2 |
A |
T |
14: 75,493,449 (GRCm39) |
Q42L |
possibly damaging |
Het |
Cpd |
G |
A |
11: 76,693,151 (GRCm39) |
Q712* |
probably null |
Het |
Csmd3 |
T |
A |
15: 47,450,361 (GRCm39) |
Y2690F |
|
Het |
Dchs1 |
G |
T |
7: 105,407,835 (GRCm39) |
T1999K |
probably benign |
Het |
Ddx10 |
T |
A |
9: 53,151,786 (GRCm39) |
T80S |
probably damaging |
Het |
Dmtn |
G |
A |
14: 70,854,768 (GRCm39) |
T69I |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,370,524 (GRCm39) |
H2821Q |
probably damaging |
Het |
Fam162b |
T |
A |
10: 51,466,572 (GRCm39) |
|
probably benign |
Het |
Fam193b |
A |
C |
13: 55,690,612 (GRCm39) |
S717A |
probably benign |
Het |
Far2 |
T |
C |
6: 148,082,493 (GRCm39) |
F500L |
unknown |
Het |
Focad |
T |
A |
4: 88,192,435 (GRCm39) |
V588D |
unknown |
Het |
Gm12728 |
T |
C |
4: 105,651,593 (GRCm39) |
F68L |
probably damaging |
Het |
Gm1527 |
T |
A |
3: 28,974,621 (GRCm39) |
M478K |
probably benign |
Het |
Gm57858 |
T |
A |
3: 36,080,070 (GRCm39) |
D229V |
possibly damaging |
Het |
Gpd2 |
A |
T |
2: 57,230,171 (GRCm39) |
I308F |
probably damaging |
Het |
Igf2bp3 |
T |
C |
6: 49,085,933 (GRCm39) |
T249A |
probably benign |
Het |
Igfn1 |
C |
A |
1: 135,889,746 (GRCm39) |
V2434F |
probably damaging |
Het |
Inhca |
G |
A |
9: 103,156,680 (GRCm39) |
Q127* |
probably null |
Het |
Kdm5a |
C |
A |
6: 120,382,879 (GRCm39) |
Q737K |
probably benign |
Het |
Khdrbs2 |
T |
C |
1: 32,372,685 (GRCm39) |
S120P |
unknown |
Het |
Lmx1a |
T |
C |
1: 167,519,609 (GRCm39) |
F46L |
probably damaging |
Het |
Lrba |
C |
G |
3: 86,232,381 (GRCm39) |
T776R |
probably damaging |
Het |
Lrrc8c |
A |
G |
5: 105,755,701 (GRCm39) |
N492S |
possibly damaging |
Het |
Mapk3 |
A |
T |
7: 126,363,967 (GRCm39) |
I365F |
|
Het |
Mcee |
A |
G |
7: 64,061,657 (GRCm39) |
I153M |
possibly damaging |
Het |
Mllt3 |
T |
C |
4: 87,710,180 (GRCm39) |
D415G |
possibly damaging |
Het |
Muc4 |
A |
T |
16: 32,575,740 (GRCm39) |
T1747S |
unknown |
Het |
Myh14 |
A |
T |
7: 44,310,466 (GRCm39) |
V139E |
probably damaging |
Het |
Myo10 |
A |
T |
15: 25,779,706 (GRCm39) |
I772L |
probably benign |
Het |
Naa15 |
T |
G |
3: 51,367,268 (GRCm39) |
|
probably null |
Het |
Nbeal1 |
T |
A |
1: 60,283,969 (GRCm39) |
I841N |
probably damaging |
Het |
Nf1 |
C |
T |
11: 79,437,102 (GRCm39) |
T2006I |
probably damaging |
Het |
Npr2 |
T |
A |
4: 43,641,254 (GRCm39) |
W427R |
probably damaging |
Het |
Nr1h3 |
A |
T |
2: 91,020,540 (GRCm39) |
F324L |
possibly damaging |
Het |
Obscn |
T |
C |
11: 58,947,740 (GRCm39) |
K4430E |
|
Het |
Or1e1d-ps1 |
T |
A |
11: 73,819,013 (GRCm39) |
Y61N |
possibly damaging |
Het |
Or5ac21 |
A |
G |
16: 59,124,391 (GRCm39) |
R292G |
probably damaging |
Het |
Or6c2 |
A |
T |
10: 129,362,530 (GRCm39) |
T145S |
probably benign |
Het |
Or6d13 |
T |
C |
6: 116,517,894 (GRCm39) |
L160P |
probably benign |
Het |
Osgin1 |
T |
A |
8: 120,172,170 (GRCm39) |
H321Q |
probably benign |
Het |
P4ha1 |
A |
G |
10: 59,186,273 (GRCm39) |
I251V |
probably benign |
Het |
Padi2 |
G |
A |
4: 140,644,997 (GRCm39) |
W77* |
probably null |
Het |
Pkd1 |
T |
A |
17: 24,800,616 (GRCm39) |
I3086N |
probably damaging |
Het |
Plk3 |
T |
C |
4: 116,988,350 (GRCm39) |
N360S |
probably benign |
Het |
Prr14 |
A |
T |
7: 127,075,614 (GRCm39) |
S541C |
probably null |
Het |
Ptch2 |
C |
A |
4: 116,971,843 (GRCm39) |
Q1122K |
possibly damaging |
Het |
Rab3gap1 |
T |
C |
1: 127,865,727 (GRCm39) |
V764A |
possibly damaging |
Het |
Rad50 |
T |
C |
11: 53,586,223 (GRCm39) |
I258V |
probably benign |
Het |
Rbm44 |
A |
G |
1: 91,079,938 (GRCm39) |
N42S |
possibly damaging |
Het |
Ring1 |
T |
C |
17: 34,240,694 (GRCm39) |
Y361C |
probably damaging |
Het |
Robo3 |
T |
C |
9: 37,329,852 (GRCm39) |
T1155A |
probably damaging |
Het |
Rsf1 |
GGCGG |
GGCGGTGGCCGCGG |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,470,502 (GRCm39) |
T4682A |
probably damaging |
Het |
Scart1 |
A |
T |
7: 139,804,790 (GRCm39) |
N598Y |
possibly damaging |
Het |
Sema7a |
T |
C |
9: 57,868,847 (GRCm39) |
V653A |
unknown |
Het |
Slc16a13 |
T |
C |
11: 70,110,105 (GRCm39) |
Y132C |
probably damaging |
Het |
Slc24a1 |
A |
G |
9: 64,855,815 (GRCm39) |
V364A |
unknown |
Het |
Slc8a2 |
C |
T |
7: 15,868,278 (GRCm39) |
A170V |
probably damaging |
Het |
Slfn8 |
C |
T |
11: 82,894,566 (GRCm39) |
R691Q |
not run |
Het |
Snx2 |
T |
C |
18: 53,327,640 (GRCm39) |
V122A |
probably benign |
Het |
Sstr1 |
A |
T |
12: 58,260,066 (GRCm39) |
M230L |
probably benign |
Het |
Themis2 |
C |
T |
4: 132,513,528 (GRCm39) |
V233I |
possibly damaging |
Het |
Tmem106b |
T |
C |
6: 13,078,167 (GRCm39) |
S121P |
probably damaging |
Het |
Tmem63c |
A |
G |
12: 87,124,722 (GRCm39) |
I529V |
probably benign |
Het |
Tmem94 |
T |
C |
11: 115,686,971 (GRCm39) |
|
probably null |
Het |
Trmt10c |
A |
T |
16: 55,854,619 (GRCm39) |
W339R |
probably damaging |
Het |
Ugt2b1 |
A |
T |
5: 87,065,578 (GRCm39) |
F487Y |
not run |
Het |
Vmn2r91 |
T |
A |
17: 18,356,838 (GRCm39) |
L835* |
probably null |
Het |
Vps52 |
C |
A |
17: 34,177,283 (GRCm39) |
N108K |
possibly damaging |
Het |
Wdpcp |
T |
A |
11: 21,661,585 (GRCm39) |
C286S |
possibly damaging |
Het |
Zfp959 |
T |
A |
17: 56,205,551 (GRCm39) |
H529Q |
possibly 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 |
|
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'- TCATTGTGTGACCAGCAAAACAC -3'
(R):5'- ATGACCAGTCCAAGTCCAGAG -3'
Sequencing Primer
(F):5'- TGTGACCAGCAAAACACACACTG -3'
(R):5'- ACATCACAGGTCAGCTGGC -3'
|
Posted On |
2019-09-13 |