Incidental Mutation 'R1577:Rapgef5'
ID |
171238 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rapgef5
|
Ensembl Gene |
ENSMUSG00000041992 |
Gene Name |
Rap guanine nucleotide exchange factor (GEF) 5 |
Synonyms |
mr-gef, D030051B22Rik |
MMRRC Submission |
039615-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1577 (G1)
|
Quality Score |
205 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
117480146-117723472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 117558911 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 282
(A282V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152479
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109691]
[ENSMUST00000220781]
|
AlphaFold |
Q8C0Q9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109691
AA Change: A174V
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000105313 Gene: ENSMUSG00000041992 AA Change: A174V
Domain | Start | End | E-Value | Type |
DEP
|
44 |
118 |
2.07e-12 |
SMART |
RasGEFN
|
300 |
434 |
3.12e-34 |
SMART |
Blast:RasGEF
|
441 |
502 |
7e-31 |
BLAST |
RasGEF
|
574 |
814 |
1.52e-100 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220781
AA Change: A282V
PolyPhen 2
Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221225
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.3%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
T |
C |
1: 25,133,264 (GRCm39) |
N404S |
possibly damaging |
Het |
Cep85 |
T |
C |
4: 133,879,599 (GRCm39) |
E383G |
probably damaging |
Het |
Chst4 |
A |
T |
8: 110,756,476 (GRCm39) |
H379Q |
probably benign |
Het |
Clca3b |
A |
T |
3: 144,529,280 (GRCm39) |
I798N |
probably damaging |
Het |
Cldnd1 |
T |
G |
16: 58,553,016 (GRCm39) |
L159R |
possibly damaging |
Het |
Cntnap3 |
T |
C |
13: 64,906,104 (GRCm39) |
E834G |
probably damaging |
Het |
Col2a1 |
C |
T |
15: 97,877,083 (GRCm39) |
R1065Q |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,415,162 (GRCm39) |
D674G |
probably damaging |
Het |
Dntt |
A |
G |
19: 41,044,224 (GRCm39) |
Y463C |
probably damaging |
Het |
Egfr |
A |
G |
11: 16,819,241 (GRCm39) |
E257G |
probably benign |
Het |
Eif4b |
C |
T |
15: 101,998,336 (GRCm39) |
R339* |
probably null |
Het |
Fat1 |
C |
T |
8: 45,476,420 (GRCm39) |
T1822M |
probably benign |
Het |
Fgd3 |
T |
C |
13: 49,435,413 (GRCm39) |
N282D |
probably damaging |
Het |
Fmo4 |
T |
C |
1: 162,631,269 (GRCm39) |
M233V |
possibly damaging |
Het |
Gabbr2 |
T |
A |
4: 46,684,319 (GRCm39) |
M652L |
probably benign |
Het |
Gal3st2c |
G |
A |
1: 93,934,650 (GRCm39) |
V13M |
probably damaging |
Het |
Gapvd1 |
C |
T |
2: 34,599,240 (GRCm39) |
G686D |
probably damaging |
Het |
Gdap1l1 |
T |
G |
2: 163,280,524 (GRCm39) |
L20R |
probably damaging |
Het |
Gm5800 |
A |
T |
14: 51,952,016 (GRCm39) |
M82K |
probably benign |
Het |
Grm6 |
T |
A |
11: 50,753,972 (GRCm39) |
C759S |
probably damaging |
Het |
Hs3st1 |
A |
T |
5: 39,772,393 (GRCm39) |
D83E |
probably benign |
Het |
Il12rb1 |
A |
G |
8: 71,263,250 (GRCm39) |
D39G |
probably damaging |
Het |
Ldhb |
C |
A |
6: 142,438,324 (GRCm39) |
K244N |
possibly damaging |
Het |
Lypd6 |
C |
T |
2: 50,080,710 (GRCm39) |
R133* |
probably null |
Het |
Med13l |
G |
A |
5: 118,859,457 (GRCm39) |
G215S |
probably damaging |
Het |
Ncoa1 |
T |
C |
12: 4,345,196 (GRCm39) |
D606G |
probably damaging |
Het |
Noc2l |
C |
T |
4: 156,325,079 (GRCm39) |
T151M |
probably damaging |
Het |
Or10q3 |
T |
C |
19: 11,847,741 (GRCm39) |
T280A |
probably damaging |
Het |
Or2ag2 |
T |
C |
7: 106,485,217 (GRCm39) |
K269R |
probably benign |
Het |
Or2at4 |
T |
C |
7: 99,384,563 (GRCm39) |
L71P |
probably damaging |
Het |
Or2t26 |
T |
A |
11: 49,040,016 (GRCm39) |
C311S |
probably benign |
Het |
Or5aq1b |
T |
C |
2: 86,901,741 (GRCm39) |
T246A |
probably benign |
Het |
Ppm1l |
G |
A |
3: 69,460,403 (GRCm39) |
G327R |
probably damaging |
Het |
Rnf139 |
T |
C |
15: 58,771,367 (GRCm39) |
V464A |
probably damaging |
Het |
Rprd2 |
C |
T |
3: 95,672,047 (GRCm39) |
E1119K |
probably damaging |
Het |
Sipa1l2 |
G |
A |
8: 126,219,001 (GRCm39) |
T112I |
probably benign |
Het |
Skint6 |
T |
C |
4: 113,005,720 (GRCm39) |
T363A |
possibly damaging |
Het |
Slc22a16 |
G |
T |
10: 40,479,811 (GRCm39) |
E607* |
probably null |
Het |
Slc24a2 |
T |
C |
4: 86,909,648 (GRCm39) |
Y690C |
probably damaging |
Het |
Slc25a23 |
T |
C |
17: 57,354,306 (GRCm39) |
S115G |
probably benign |
Het |
Slc4a3 |
T |
C |
1: 75,527,535 (GRCm39) |
L168P |
probably damaging |
Het |
Spats2 |
T |
A |
15: 99,076,333 (GRCm39) |
I137N |
possibly damaging |
Het |
Stard4 |
A |
T |
18: 33,338,151 (GRCm39) |
V133D |
probably damaging |
Het |
Syn3 |
A |
G |
10: 86,284,728 (GRCm39) |
|
probably null |
Het |
Tfpi |
A |
G |
2: 84,263,447 (GRCm39) |
I305T |
probably damaging |
Het |
Tmtc1 |
T |
A |
6: 148,314,318 (GRCm39) |
|
probably null |
Het |
Tpcn1 |
A |
C |
5: 120,682,485 (GRCm39) |
W508G |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,030,974 (GRCm39) |
N406K |
possibly damaging |
Het |
Xrcc1 |
T |
A |
7: 24,265,052 (GRCm39) |
L118* |
probably null |
Het |
Zbtb5 |
T |
C |
4: 44,995,129 (GRCm39) |
Y85C |
probably damaging |
Het |
Zfand4 |
C |
A |
6: 116,306,373 (GRCm39) |
Y735* |
probably null |
Het |
Zfp180 |
G |
T |
7: 23,805,333 (GRCm39) |
C584F |
probably damaging |
Het |
|
Other mutations in Rapgef5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00420:Rapgef5
|
APN |
12 |
117,677,917 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01405:Rapgef5
|
APN |
12 |
117,685,115 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01611:Rapgef5
|
APN |
12 |
117,717,154 (GRCm39) |
splice site |
probably benign |
|
IGL01720:Rapgef5
|
APN |
12 |
117,577,055 (GRCm39) |
splice site |
probably benign |
|
IGL01958:Rapgef5
|
APN |
12 |
117,694,386 (GRCm39) |
missense |
probably benign |
0.24 |
IGL02093:Rapgef5
|
APN |
12 |
117,682,867 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03210:Rapgef5
|
APN |
12 |
117,706,607 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03370:Rapgef5
|
APN |
12 |
117,694,294 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03397:Rapgef5
|
APN |
12 |
117,712,176 (GRCm39) |
missense |
probably damaging |
1.00 |
R0026:Rapgef5
|
UTSW |
12 |
117,652,896 (GRCm39) |
missense |
probably benign |
0.11 |
R0026:Rapgef5
|
UTSW |
12 |
117,652,896 (GRCm39) |
missense |
probably benign |
0.11 |
R0100:Rapgef5
|
UTSW |
12 |
117,685,034 (GRCm39) |
missense |
probably benign |
0.05 |
R0173:Rapgef5
|
UTSW |
12 |
117,652,411 (GRCm39) |
missense |
probably benign |
0.00 |
R0834:Rapgef5
|
UTSW |
12 |
117,610,741 (GRCm39) |
splice site |
probably benign |
|
R1331:Rapgef5
|
UTSW |
12 |
117,685,084 (GRCm39) |
missense |
probably benign |
0.04 |
R1505:Rapgef5
|
UTSW |
12 |
117,652,354 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1546:Rapgef5
|
UTSW |
12 |
117,610,721 (GRCm39) |
missense |
probably benign |
0.00 |
R1597:Rapgef5
|
UTSW |
12 |
117,621,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R1824:Rapgef5
|
UTSW |
12 |
117,652,419 (GRCm39) |
critical splice donor site |
probably null |
|
R2065:Rapgef5
|
UTSW |
12 |
117,547,739 (GRCm39) |
nonsense |
probably null |
|
R2117:Rapgef5
|
UTSW |
12 |
117,677,799 (GRCm39) |
splice site |
probably null |
|
R2169:Rapgef5
|
UTSW |
12 |
117,679,130 (GRCm39) |
missense |
probably benign |
0.25 |
R2903:Rapgef5
|
UTSW |
12 |
117,677,854 (GRCm39) |
missense |
probably damaging |
1.00 |
R3983:Rapgef5
|
UTSW |
12 |
117,692,405 (GRCm39) |
missense |
possibly damaging |
0.49 |
R4004:Rapgef5
|
UTSW |
12 |
117,712,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R4652:Rapgef5
|
UTSW |
12 |
117,677,863 (GRCm39) |
missense |
probably damaging |
0.99 |
R4830:Rapgef5
|
UTSW |
12 |
117,719,809 (GRCm39) |
missense |
probably damaging |
1.00 |
R5282:Rapgef5
|
UTSW |
12 |
117,703,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R5348:Rapgef5
|
UTSW |
12 |
117,652,346 (GRCm39) |
missense |
probably benign |
0.24 |
R5456:Rapgef5
|
UTSW |
12 |
117,692,381 (GRCm39) |
splice site |
probably null |
|
R5502:Rapgef5
|
UTSW |
12 |
117,685,064 (GRCm39) |
missense |
probably damaging |
1.00 |
R5741:Rapgef5
|
UTSW |
12 |
117,719,764 (GRCm39) |
missense |
probably damaging |
0.99 |
R5771:Rapgef5
|
UTSW |
12 |
117,685,061 (GRCm39) |
missense |
probably benign |
0.45 |
R5905:Rapgef5
|
UTSW |
12 |
117,712,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R5941:Rapgef5
|
UTSW |
12 |
117,692,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R6228:Rapgef5
|
UTSW |
12 |
117,685,398 (GRCm39) |
splice site |
probably null |
|
R6233:Rapgef5
|
UTSW |
12 |
117,703,453 (GRCm39) |
critical splice donor site |
probably null |
|
R6376:Rapgef5
|
UTSW |
12 |
117,684,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R6475:Rapgef5
|
UTSW |
12 |
117,681,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R7063:Rapgef5
|
UTSW |
12 |
117,652,864 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7410:Rapgef5
|
UTSW |
12 |
117,685,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R7445:Rapgef5
|
UTSW |
12 |
117,719,704 (GRCm39) |
missense |
probably benign |
0.00 |
R7690:Rapgef5
|
UTSW |
12 |
117,685,105 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7707:Rapgef5
|
UTSW |
12 |
117,679,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R7815:Rapgef5
|
UTSW |
12 |
117,719,702 (GRCm39) |
missense |
probably benign |
0.10 |
R8461:Rapgef5
|
UTSW |
12 |
117,677,844 (GRCm39) |
missense |
probably benign |
0.00 |
R8475:Rapgef5
|
UTSW |
12 |
117,681,965 (GRCm39) |
missense |
probably damaging |
0.99 |
R8675:Rapgef5
|
UTSW |
12 |
117,547,782 (GRCm39) |
missense |
probably damaging |
1.00 |
R8682:Rapgef5
|
UTSW |
12 |
117,545,432 (GRCm39) |
missense |
probably benign |
0.06 |
R9018:Rapgef5
|
UTSW |
12 |
117,712,132 (GRCm39) |
missense |
probably damaging |
0.99 |
R9617:Rapgef5
|
UTSW |
12 |
117,621,930 (GRCm39) |
missense |
probably benign |
0.00 |
X0018:Rapgef5
|
UTSW |
12 |
117,681,950 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Rapgef5
|
UTSW |
12 |
117,558,908 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Rapgef5
|
UTSW |
12 |
117,652,732 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCCAACACGCTGTTATTTGCATAC -3'
(R):5'- ACACTGGATTTCAAAGCCCGAGAG -3'
Sequencing Primer
(F):5'- ACGCTGTTATTTGCATACTTTCATTC -3'
(R):5'- TTCAAAGCCCGAGAGCTATTG -3'
|
Posted On |
2014-04-13 |