Incidental Mutation 'R1288:Rapgef3'
| ID |
150682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rapgef3
|
| Ensembl Gene |
ENSMUSG00000022469 |
| Gene Name |
Rap guanine nucleotide exchange factor (GEF) 3 |
| Synonyms |
2310016P22Rik, 9330170P05Rik, Epac1 |
| MMRRC Submission |
039354-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.186)
|
| Stock # |
R1288 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
97744770-97767972 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 97759342 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 267
(S267I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000126854]
[ENSMUST00000128775]
[ENSMUST00000129223]
[ENSMUST00000134371]
[ENSMUST00000134885]
[ENSMUST00000146620]
[ENSMUST00000149419]
[ENSMUST00000177352]
[ENSMUST00000175894]
|
| AlphaFold |
Q8VCC8 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123397
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126854
AA Change: S267I
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000116426
Gene: ENSMUSG00000022469
AA Change: S267I
| 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: S267I
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120126
Gene: ENSMUSG00000022469
AA Change: S267I
| 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: S267I
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000118148
Gene: ENSMUSG00000022469
AA Change: S267I
| 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 |
noncoding transcript
Transcript: ENSMUST00000146214
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149373
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177352
AA Change: S225I
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135238
Gene: ENSMUSG00000022469
AA Change: S225I
| 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: ENSMUST00000153464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153241
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175894
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrd1 |
A |
T |
5: 129,129,007 (GRCm38) |
D247V |
probably damaging |
Het |
| Ano5 |
A |
T |
7: 51,546,872 (GRCm38) |
S184C |
probably damaging |
Het |
| Anpep |
C |
T |
7: 79,838,256 (GRCm38) |
E518K |
probably benign |
Het |
| Atxn3 |
C |
T |
12: 101,942,178 (GRCm38) |
|
probably null |
Het |
| BC005537 |
A |
T |
13: 24,804,900 (GRCm38) |
E54V |
probably damaging |
Het |
| Ccdc150 |
A |
T |
1: 54,364,458 (GRCm38) |
E881V |
probably damaging |
Het |
| Cep126 |
A |
T |
9: 8,112,181 (GRCm38) |
N130K |
probably benign |
Het |
| Enoph1 |
A |
G |
5: 100,040,279 (GRCm38) |
T21A |
possibly damaging |
Het |
| Fbxw28 |
A |
G |
9: 109,337,293 (GRCm38) |
I165T |
probably damaging |
Het |
| Lrp12 |
A |
T |
15: 39,878,403 (GRCm38) |
N305K |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 101,102,109 (GRCm38) |
T561A |
probably benign |
Het |
| Mup21 |
G |
T |
4: 62,150,697 (GRCm38) |
A19E |
probably benign |
Het |
| Myh13 |
T |
C |
11: 67,353,718 (GRCm38) |
I1027T |
probably benign |
Het |
| Nkg7 |
A |
G |
7: 43,437,662 (GRCm38) |
|
probably null |
Het |
| Nme8 |
A |
G |
13: 19,674,449 (GRCm38) |
V73A |
possibly damaging |
Het |
| Olfr1135 |
G |
A |
2: 87,671,572 (GRCm38) |
A265V |
probably benign |
Het |
| Olfr123 |
T |
A |
17: 37,795,693 (GRCm38) |
L83Q |
probably damaging |
Het |
| Olfr138 |
A |
G |
17: 38,275,223 (GRCm38) |
T151A |
probably benign |
Het |
| Olfr68 |
A |
T |
7: 103,778,042 (GRCm38) |
L101Q |
possibly damaging |
Het |
| Olfr822 |
A |
G |
10: 130,075,285 (GRCm38) |
N292D |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,801,290 (GRCm38) |
D4V |
probably benign |
Het |
| Vmn1r234 |
CTT |
CTTT |
17: 21,229,251 (GRCm38) |
|
probably null |
Het |
| Zfp40 |
T |
A |
17: 23,182,162 (GRCm38) |
I36L |
probably benign |
Het |
|
| Other mutations in Rapgef3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:Rapgef3
|
APN |
15 |
97,748,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01339:Rapgef3
|
APN |
15 |
97,758,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01670:Rapgef3
|
APN |
15 |
97,749,662 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL01902:Rapgef3
|
APN |
15 |
97,750,300 (GRCm38) |
missense |
probably benign |
0.32 |
|
IGL02137:Rapgef3
|
APN |
15 |
97,750,144 (GRCm38) |
missense |
probably benign |
0.08 |
|
IGL02419:Rapgef3
|
APN |
15 |
97,750,290 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL02427:Rapgef3
|
APN |
15 |
97,747,136 (GRCm38) |
splice site |
probably null |
|
|
IGL02648:Rapgef3
|
APN |
15 |
97,758,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02834:Rapgef3
|
APN |
15 |
97,748,265 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL03389:Rapgef3
|
APN |
15 |
97,749,516 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03055:Rapgef3
|
UTSW |
15 |
97,749,489 (GRCm38) |
splice site |
probably benign |
|
|
R0394:Rapgef3
|
UTSW |
15 |
97,757,819 (GRCm38) |
intron |
probably benign |
|
|
R0538:Rapgef3
|
UTSW |
15 |
97,757,817 (GRCm38) |
intron |
probably benign |
|
|
R0744:Rapgef3
|
UTSW |
15 |
97,761,585 (GRCm38) |
splice site |
probably benign |
|
|
R1512:Rapgef3
|
UTSW |
15 |
97,757,501 (GRCm38) |
missense |
probably benign |
0.24 |
|
R1676:Rapgef3
|
UTSW |
15 |
97,761,182 (GRCm38) |
missense |
probably benign |
0.35 |
|
R1745:Rapgef3
|
UTSW |
15 |
97,750,178 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1928:Rapgef3
|
UTSW |
15 |
97,750,033 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2063:Rapgef3
|
UTSW |
15 |
97,766,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2067:Rapgef3
|
UTSW |
15 |
97,766,961 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2092:Rapgef3
|
UTSW |
15 |
97,760,723 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4358:Rapgef3
|
UTSW |
15 |
97,748,648 (GRCm38) |
missense |
probably benign |
0.05 |
|
R4624:Rapgef3
|
UTSW |
15 |
97,758,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4627:Rapgef3
|
UTSW |
15 |
97,758,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4727:Rapgef3
|
UTSW |
15 |
97,760,600 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4812:Rapgef3
|
UTSW |
15 |
97,753,803 (GRCm38) |
missense |
probably benign |
0.21 |
|
R4928:Rapgef3
|
UTSW |
15 |
97,757,375 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5161:Rapgef3
|
UTSW |
15 |
97,757,725 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5442:Rapgef3
|
UTSW |
15 |
97,758,861 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5652:Rapgef3
|
UTSW |
15 |
97,758,437 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5837:Rapgef3
|
UTSW |
15 |
97,757,342 (GRCm38) |
splice site |
probably benign |
|
|
R6056:Rapgef3
|
UTSW |
15 |
97,758,861 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6167:Rapgef3
|
UTSW |
15 |
97,767,411 (GRCm38) |
unclassified |
probably benign |
|
|
R6694:Rapgef3
|
UTSW |
15 |
97,759,984 (GRCm38) |
missense |
probably benign |
0.03 |
|
R7039:Rapgef3
|
UTSW |
15 |
97,761,568 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7154:Rapgef3
|
UTSW |
15 |
97,753,877 (GRCm38) |
missense |
probably benign |
|
|
R7380:Rapgef3
|
UTSW |
15 |
97,766,791 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7655:Rapgef3
|
UTSW |
15 |
97,761,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7656:Rapgef3
|
UTSW |
15 |
97,761,209 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7754:Rapgef3
|
UTSW |
15 |
97,757,746 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7849:Rapgef3
|
UTSW |
15 |
97,758,390 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8061:Rapgef3
|
UTSW |
15 |
97,761,520 (GRCm38) |
missense |
probably benign |
|
|
R8117:Rapgef3
|
UTSW |
15 |
97,750,866 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8179:Rapgef3
|
UTSW |
15 |
97,760,740 (GRCm38) |
missense |
probably benign |
0.06 |
|
R8819:Rapgef3
|
UTSW |
15 |
97,748,657 (GRCm38) |
missense |
probably benign |
0.39 |
|
R8820:Rapgef3
|
UTSW |
15 |
97,748,657 (GRCm38) |
missense |
probably benign |
0.39 |
|
R8824:Rapgef3
|
UTSW |
15 |
97,766,908 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9779:Rapgef3
|
UTSW |
15 |
97,745,598 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9781:Rapgef3
|
UTSW |
15 |
97,745,598 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9782:Rapgef3
|
UTSW |
15 |
97,745,598 (GRCm38) |
missense |
probably damaging |
0.99 |
|
RF024:Rapgef3
|
UTSW |
15 |
97,760,740 (GRCm38) |
missense |
probably benign |
0.06 |
|
X0011:Rapgef3
|
UTSW |
15 |
97,761,473 (GRCm38) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCACACGCAGAAAGTGACAG -3'
(R):5'- TGACCATAGCTCTATCCTCCAGTGC -3'
Sequencing Primer
(F):5'- GACAGTTGACATCTATCCCAGTGG -3'
(R):5'- AGTGCTGTCTTTGGATATACCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation