Incidental Mutation 'R5161:Rapgef3'
| ID |
397018 |
| 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 |
042743-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.268)
|
| Stock # |
R5161 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
97642651-97665853 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97655606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 427
(V427A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000177352]
[ENSMUST00000175894]
[ENSMUST00000149419]
[ENSMUST00000146620]
|
| AlphaFold |
Q8VCC8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126854
AA Change: V427A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: V427A
| 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: V427A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: V427A
| 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: V427A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: V427A
| 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: ENSMUST00000177352
AA Change: V385A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: V385A
| 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: ENSMUST00000153241
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149373
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146620
|
| SMART Domains |
Protein: ENSMUSP00000116673
Gene: ENSMUSG00000022469
| Domain | Start | End | E-Value | Type |
|---|
|
DEP
|
69 |
144 |
2.05e-25 |
SMART |
|
| Meta Mutation Damage Score |
0.1587 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,055,344 (GRCm39) |
E27* |
probably null |
Het |
| 4930407I10Rik |
G |
T |
15: 81,947,542 (GRCm39) |
E480* |
probably null |
Het |
| Acad11 |
T |
C |
9: 104,001,227 (GRCm39) |
I591T |
probably benign |
Het |
| Acsbg3 |
A |
T |
17: 57,189,888 (GRCm39) |
I305F |
possibly damaging |
Het |
| Adamts13 |
G |
A |
2: 26,883,020 (GRCm39) |
E857K |
probably benign |
Het |
| Atf2 |
A |
C |
2: 73,660,134 (GRCm39) |
|
probably null |
Het |
| Cass4 |
C |
A |
2: 172,274,244 (GRCm39) |
A675E |
probably damaging |
Het |
| Coa8 |
C |
A |
12: 111,689,208 (GRCm39) |
Q97K |
possibly damaging |
Het |
| Ctsd |
A |
T |
7: 141,930,881 (GRCm39) |
L283Q |
probably damaging |
Het |
| Ddrgk1 |
A |
T |
2: 130,505,296 (GRCm39) |
M1K |
probably null |
Het |
| Dipk1b |
C |
T |
2: 26,526,260 (GRCm39) |
T398M |
possibly damaging |
Het |
| Dock1 |
G |
A |
7: 134,335,791 (GRCm39) |
A62T |
possibly damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,748,207 (GRCm39) |
D407G |
possibly damaging |
Het |
| Eif1ad17 |
T |
A |
12: 87,978,887 (GRCm39) |
D90E |
possibly damaging |
Het |
| Eml6 |
A |
G |
11: 29,974,467 (GRCm39) |
V37A |
probably damaging |
Het |
| Fam20a |
C |
T |
11: 109,564,196 (GRCm39) |
R519Q |
probably benign |
Het |
| Fat1 |
A |
G |
8: 45,405,549 (GRCm39) |
T767A |
probably benign |
Het |
| Fbxl8 |
A |
T |
8: 105,995,538 (GRCm39) |
H350L |
possibly damaging |
Het |
| Gm10226 |
A |
C |
17: 21,910,834 (GRCm39) |
Q23P |
possibly damaging |
Het |
| Gm38706 |
A |
T |
6: 130,459,868 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch2l |
G |
T |
12: 86,313,950 (GRCm39) |
R362L |
probably benign |
Het |
| Hyal5 |
A |
T |
6: 24,891,602 (GRCm39) |
D472V |
probably benign |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,699,777 (GRCm39) |
S102G |
possibly damaging |
Het |
| Itpripl1 |
A |
C |
2: 126,983,777 (GRCm39) |
L115R |
probably damaging |
Het |
| Itsn1 |
G |
A |
16: 91,705,726 (GRCm39) |
C169Y |
possibly damaging |
Het |
| Krt88 |
T |
A |
15: 101,348,349 (GRCm39) |
C12S |
probably benign |
Het |
| Macroh2a1 |
T |
C |
13: 56,237,594 (GRCm39) |
D222G |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,582,895 (GRCm39) |
V2557M |
probably damaging |
Het |
| Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
| Nbeal2 |
G |
T |
9: 110,458,936 (GRCm39) |
Q1996K |
probably benign |
Het |
| Obscn |
T |
C |
11: 58,919,430 (GRCm39) |
E6205G |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,955,136 (GRCm39) |
Y3926H |
possibly damaging |
Het |
| Or14a259 |
T |
C |
7: 86,013,546 (GRCm39) |
|
probably null |
Het |
| Or5an10 |
A |
T |
19: 12,276,153 (GRCm39) |
S114R |
probably damaging |
Het |
| P2ry2 |
A |
T |
7: 100,648,136 (GRCm39) |
Y56* |
probably null |
Het |
| Pate10 |
T |
A |
9: 35,652,884 (GRCm39) |
L42* |
probably null |
Het |
| Pde1a |
T |
C |
2: 79,708,488 (GRCm39) |
N242S |
probably null |
Het |
| Pik3cg |
C |
T |
12: 32,254,977 (GRCm39) |
E337K |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,433,712 (GRCm39) |
N587S |
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,285,183 (GRCm39) |
|
probably null |
Het |
| Ptpn4 |
C |
T |
1: 119,635,593 (GRCm39) |
W370* |
probably null |
Het |
| Qki |
A |
T |
17: 10,434,419 (GRCm39) |
|
probably null |
Het |
| Rbbp8 |
T |
G |
18: 11,855,171 (GRCm39) |
D465E |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,594,935 (GRCm39) |
K1928R |
probably benign |
Het |
| Slc5a5 |
A |
C |
8: 71,341,492 (GRCm39) |
C346G |
probably damaging |
Het |
| Spata2l |
A |
G |
8: 123,962,288 (GRCm39) |
L91P |
probably damaging |
Het |
| Syt3 |
C |
A |
7: 44,045,439 (GRCm39) |
H560N |
possibly damaging |
Het |
| Timm23 |
G |
A |
14: 31,915,882 (GRCm39) |
P63L |
probably damaging |
Het |
| Tmem191 |
T |
C |
16: 17,094,743 (GRCm39) |
S108P |
possibly damaging |
Het |
| Ttc21b |
A |
G |
2: 66,059,367 (GRCm39) |
C545R |
probably damaging |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Usp17ld |
A |
T |
7: 102,899,579 (GRCm39) |
L451* |
probably null |
Het |
| Vmn1r15 |
T |
C |
6: 57,235,497 (GRCm39) |
Y122H |
probably benign |
Het |
| Vxn |
G |
T |
1: 9,692,902 (GRCm39) |
G145* |
probably null |
Het |
| Zfp1002 |
A |
T |
2: 150,097,135 (GRCm39) |
I98K |
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 |
|
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'- CAGATGTAGGTGCTGTGCTC -3'
(R):5'- TTGGGTGGAGAGAACTGTCAC -3'
Sequencing Primer
(F):5'- TGAGGCCACCCGTCATACAG -3'
(R):5'- AACTGTCACAGGGGCTGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation