Incidental Mutation 'R0026:Rapgef5'
ID |
15086 |
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 |
038321-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0026 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
117480146-117723472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117652896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 307
(S307P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105313
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109691]
[ENSMUST00000222105]
[ENSMUST00000222185]
|
AlphaFold |
Q8C0Q9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109691
AA Change: S307P
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000105313 Gene: ENSMUSG00000041992 AA Change: S307P
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: ENSMUST00000222105
AA Change: S105P
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222185
AA Change: S73P
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223040
|
Meta Mutation Damage Score |
0.4386 |
Coding Region Coverage |
- 1x: 78.7%
- 3x: 68.7%
- 10x: 42.4%
- 20x: 22.6%
|
Validation Efficiency |
96% (75/78) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
C |
T |
7: 120,077,146 (GRCm39) |
|
probably benign |
Het |
Acot10 |
G |
A |
15: 20,666,322 (GRCm39) |
L140F |
probably benign |
Het |
Asph |
A |
C |
4: 9,601,361 (GRCm39) |
S129A |
probably damaging |
Het |
Atrn |
T |
C |
2: 130,799,840 (GRCm39) |
Y406H |
probably damaging |
Het |
B4galt3 |
C |
T |
1: 171,101,831 (GRCm39) |
|
probably benign |
Het |
BC016579 |
T |
C |
16: 45,460,730 (GRCm39) |
T113A |
probably benign |
Het |
Bmpr1b |
A |
G |
3: 141,576,494 (GRCm39) |
L113P |
probably benign |
Het |
Casq1 |
T |
C |
1: 172,046,967 (GRCm39) |
|
probably benign |
Het |
Ccdc187 |
T |
C |
2: 26,171,365 (GRCm39) |
D371G |
probably benign |
Het |
Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
Cyp4b1 |
C |
T |
4: 115,504,718 (GRCm39) |
G56D |
possibly damaging |
Het |
Dock5 |
C |
A |
14: 68,083,530 (GRCm39) |
E126D |
probably benign |
Het |
Exph5 |
A |
T |
9: 53,287,779 (GRCm39) |
D1620V |
probably benign |
Het |
Fancd2os |
G |
T |
6: 113,574,652 (GRCm39) |
T118N |
probably damaging |
Het |
Fli1 |
A |
G |
9: 32,387,880 (GRCm39) |
Y37H |
probably damaging |
Het |
Gm17521 |
G |
A |
X: 121,939,239 (GRCm39) |
S43L |
probably benign |
Het |
Gnb3 |
A |
G |
6: 124,814,380 (GRCm39) |
V135A |
probably benign |
Het |
Ibtk |
A |
G |
9: 85,572,356 (GRCm39) |
V1278A |
probably benign |
Het |
Ighv1-58 |
G |
A |
12: 115,275,907 (GRCm39) |
T77I |
probably benign |
Het |
Lgsn |
T |
A |
1: 31,242,524 (GRCm39) |
V202D |
probably damaging |
Het |
Madd |
A |
G |
2: 91,006,053 (GRCm39) |
F381L |
possibly damaging |
Het |
Ntf3 |
T |
A |
6: 126,078,768 (GRCm39) |
N246I |
probably damaging |
Het |
Pds5b |
G |
A |
5: 150,673,295 (GRCm39) |
|
probably benign |
Het |
Ppp3cb |
C |
T |
14: 20,581,836 (GRCm39) |
V60I |
probably benign |
Het |
Prc1 |
T |
C |
7: 79,960,809 (GRCm39) |
|
probably benign |
Het |
Prpf31 |
T |
A |
7: 3,642,667 (GRCm39) |
N413K |
probably benign |
Het |
Rbfox2 |
T |
C |
15: 76,968,357 (GRCm39) |
T435A |
possibly damaging |
Het |
Senp1 |
T |
C |
15: 97,974,549 (GRCm39) |
R88G |
probably damaging |
Het |
Slc35b1 |
T |
C |
11: 95,281,468 (GRCm39) |
S294P |
probably benign |
Het |
Slc44a5 |
G |
A |
3: 153,945,907 (GRCm39) |
|
probably benign |
Het |
Spata31e2 |
T |
A |
1: 26,722,450 (GRCm39) |
D910V |
probably benign |
Het |
Taf1d |
T |
A |
9: 15,219,944 (GRCm39) |
S64R |
probably damaging |
Het |
Trim6 |
T |
A |
7: 103,875,016 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,599,534 (GRCm39) |
T19186A |
probably damaging |
Het |
Uchl4 |
A |
T |
9: 64,142,653 (GRCm39) |
|
probably null |
Het |
Usp32 |
T |
C |
11: 84,922,900 (GRCm39) |
S673G |
possibly damaging |
Het |
Utrn |
T |
C |
10: 12,601,940 (GRCm39) |
|
probably benign |
Het |
Vps13b |
T |
C |
15: 35,923,447 (GRCm39) |
I3774T |
possibly damaging |
Het |
Vwa3a |
A |
G |
7: 120,379,434 (GRCm39) |
Q513R |
probably damaging |
Het |
Yipf1 |
T |
A |
4: 107,202,357 (GRCm39) |
L240* |
probably null |
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 |
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 |
R1577:Rapgef5
|
UTSW |
12 |
117,558,911 (GRCm39) |
missense |
probably benign |
0.28 |
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 |
|
Posted On |
2012-12-12 |