Incidental Mutation 'R7656:Rapgef3'
| ID |
591226 |
| 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 |
045732-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.267)
|
| Stock # |
R7656 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97659090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 134
(E134G)
|
| 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 damaging
Transcript: ENSMUST00000126854
AA Change: E134G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: E134G
| 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: E134G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: E134G
| 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: E134G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: E134G
| 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 damaging
Transcript: ENSMUST00000146620
AA Change: E92G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116673
Gene: ENSMUSG00000022469
AA Change: E92G
| 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 damaging
Transcript: ENSMUST00000177352
AA Change: E92G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: E92G
| 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: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abitram |
A |
G |
4: 56,804,218 (GRCm39) |
I78V |
probably benign |
Het |
| Acot2 |
A |
G |
12: 84,039,691 (GRCm39) |
Y400C |
probably benign |
Het |
| Agbl1 |
A |
G |
7: 76,059,080 (GRCm39) |
M237V |
|
Het |
| Atrnl1 |
C |
A |
19: 57,599,811 (GRCm39) |
S9* |
probably null |
Het |
| BC031181 |
A |
T |
18: 75,142,406 (GRCm39) |
K71* |
probably null |
Het |
| Bmal2 |
A |
G |
6: 146,707,940 (GRCm39) |
T21A |
probably benign |
Het |
| Brpf1 |
A |
T |
6: 113,291,835 (GRCm39) |
M294L |
probably benign |
Het |
| Camk2g |
T |
G |
14: 20,789,410 (GRCm39) |
D382A |
possibly damaging |
Het |
| Ccdc33 |
T |
A |
9: 58,025,748 (GRCm39) |
R94W |
probably damaging |
Het |
| Cd244a |
T |
A |
1: 171,404,823 (GRCm39) |
L225Q |
probably damaging |
Het |
| Chsy1 |
G |
T |
7: 65,820,778 (GRCm39) |
V338F |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,225,846 (GRCm39) |
I170V |
unknown |
Het |
| Col6a2 |
G |
T |
10: 76,443,590 (GRCm39) |
Q492K |
probably benign |
Het |
| Dnah12 |
G |
T |
14: 26,581,273 (GRCm39) |
V3168L |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,535,164 (GRCm39) |
S2699G |
possibly damaging |
Het |
| Efhc1 |
A |
G |
1: 21,031,281 (GRCm39) |
|
probably null |
Het |
| Fsip2 |
A |
G |
2: 82,807,886 (GRCm39) |
K1402E |
possibly damaging |
Het |
| Ghdc |
C |
T |
11: 100,660,493 (GRCm39) |
A127T |
probably benign |
Het |
| Glp1r |
T |
C |
17: 31,149,572 (GRCm39) |
|
probably null |
Het |
| Gm19410 |
A |
T |
8: 36,276,253 (GRCm39) |
M1637L |
probably benign |
Het |
| Grm5 |
T |
G |
7: 87,779,459 (GRCm39) |
D998E |
probably benign |
Het |
| Krtcap3 |
A |
G |
5: 31,409,904 (GRCm39) |
T157A |
probably damaging |
Het |
| Ltf |
A |
T |
9: 110,853,462 (GRCm39) |
K18* |
probably null |
Het |
| Luc7l2 |
A |
G |
6: 38,580,399 (GRCm39) |
R333G |
unknown |
Het |
| Mdc1 |
T |
G |
17: 36,161,773 (GRCm39) |
S895R |
probably benign |
Het |
| Mef2a |
G |
A |
7: 66,945,142 (GRCm39) |
T80M |
probably damaging |
Het |
| Mitd1 |
T |
A |
1: 37,924,356 (GRCm39) |
I65F |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,933,011 (GRCm39) |
L1026P |
probably damaging |
Het |
| Mtbp |
G |
T |
15: 55,472,922 (GRCm39) |
V629L |
unknown |
Het |
| Ncapd3 |
T |
A |
9: 26,966,801 (GRCm39) |
I545N |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,089,542 (GRCm39) |
T1291M |
|
Het |
| Or10z1 |
T |
A |
1: 174,077,784 (GRCm39) |
K236N |
probably damaging |
Het |
| Or5b123 |
A |
T |
19: 13,597,197 (GRCm39) |
I181F |
probably damaging |
Het |
| Orc3 |
G |
T |
4: 34,587,032 (GRCm39) |
C352* |
probably null |
Het |
| Oxct2b |
G |
A |
4: 123,011,550 (GRCm39) |
G490D |
probably benign |
Het |
| Pcdhb16 |
A |
T |
18: 37,612,458 (GRCm39) |
T473S |
probably benign |
Het |
| Phkg2 |
G |
A |
7: 127,182,074 (GRCm39) |
G365D |
probably damaging |
Het |
| Pira1 |
T |
C |
7: 3,742,281 (GRCm39) |
E82G |
probably damaging |
Het |
| Plekhd1 |
A |
G |
12: 80,768,934 (GRCm39) |
|
probably null |
Het |
| Ppp2r3d |
A |
T |
9: 101,088,911 (GRCm39) |
F471I |
probably benign |
Het |
| Prl3d1 |
T |
C |
13: 27,284,018 (GRCm39) |
C196R |
possibly damaging |
Het |
| Prmt1 |
A |
T |
7: 44,633,552 (GRCm39) |
F14L |
probably benign |
Het |
| Prox1 |
A |
G |
1: 189,894,418 (GRCm39) |
L9P |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,688,849 (GRCm39) |
F881I |
probably benign |
Het |
| Rab3ip |
A |
G |
10: 116,750,044 (GRCm39) |
I363T |
probably benign |
Het |
| Rapgef6 |
C |
T |
11: 54,585,279 (GRCm39) |
P1559L |
probably benign |
Het |
| Rnf180 |
T |
C |
13: 105,304,096 (GRCm39) |
K507E |
probably damaging |
Het |
| Rpl3l |
T |
C |
17: 24,949,960 (GRCm39) |
I53T |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,557,442 (GRCm39) |
I1466V |
unknown |
Het |
| Saxo2 |
A |
G |
7: 82,284,559 (GRCm39) |
Y100H |
probably damaging |
Het |
| Selenoh |
G |
T |
2: 84,500,724 (GRCm39) |
R39S |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,756,323 (GRCm39) |
V342A |
probably damaging |
Het |
| Slc26a9 |
T |
A |
1: 131,690,982 (GRCm39) |
F587I |
possibly damaging |
Het |
| Smoc1 |
A |
T |
12: 81,152,682 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Spag9 |
A |
C |
11: 93,887,389 (GRCm39) |
H98P |
possibly damaging |
Het |
| Spata31e3 |
T |
G |
13: 50,401,122 (GRCm39) |
K401N |
probably benign |
Het |
| T2 |
T |
A |
17: 8,637,047 (GRCm39) |
C337* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,377 (GRCm39) |
Y455C |
probably damaging |
Het |
| Thbd |
A |
G |
2: 148,249,340 (GRCm39) |
L176P |
probably damaging |
Het |
| Tmem116 |
A |
G |
5: 121,590,252 (GRCm39) |
|
probably null |
Het |
| Tmem25 |
C |
T |
9: 44,709,640 (GRCm39) |
V54I |
possibly damaging |
Het |
| Trpm4 |
C |
T |
7: 44,971,233 (GRCm39) |
V378I |
probably benign |
Het |
| Trrap |
G |
T |
5: 144,779,422 (GRCm39) |
W3129C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,558,660 (GRCm39) |
D29740E |
probably damaging |
Het |
| Vcan |
C |
T |
13: 89,833,233 (GRCm39) |
C3073Y |
probably damaging |
Het |
| Xrra1 |
T |
A |
7: 99,560,189 (GRCm39) |
D388E |
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 |
|
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'- TGCCTTAAACCTCTCCACAG -3'
(R):5'- TTCTCTCCGGCAAGCATCTG -3'
Sequencing Primer
(F):5'- GCTCCCACCAGAGTCCACTC -3'
(R):5'- CCCTGCTTTAAAAAGGGGTGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation