Incidental Mutation 'R7445:Rapgef5'
ID |
577247 |
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 |
045521-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7445 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
117480146-117723472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 117719704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 778
(D778G)
|
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: D778G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000105313 Gene: ENSMUSG00000041992 AA Change: D778G
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: D576G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222185
AA Change: D544G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (67/67) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
A |
5: 64,055,962 (GRCm39) |
S233T |
probably damaging |
Het |
1700034E13Rik |
T |
A |
18: 52,793,553 (GRCm39) |
C29S |
probably damaging |
Het |
Acsbg3 |
G |
A |
17: 57,189,973 (GRCm39) |
R333Q |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,827,954 (GRCm39) |
T2208A |
|
Het |
Ap4s1 |
T |
C |
12: 51,785,424 (GRCm39) |
L132P |
probably damaging |
Het |
Ascl4 |
C |
T |
10: 85,764,364 (GRCm39) |
R4C |
probably benign |
Het |
Brd7 |
A |
T |
8: 89,088,336 (GRCm39) |
Y18N |
probably damaging |
Het |
Cacna2d3 |
A |
G |
14: 28,780,575 (GRCm39) |
S648P |
possibly damaging |
Het |
Camta1 |
C |
T |
4: 151,228,748 (GRCm39) |
E695K |
possibly damaging |
Het |
Ccdc28b |
A |
G |
4: 129,516,400 (GRCm39) |
F53L |
probably benign |
Het |
Chaf1a |
A |
G |
17: 56,369,170 (GRCm39) |
D467G |
possibly damaging |
Het |
Cnnm1 |
G |
A |
19: 43,429,260 (GRCm39) |
R126H |
possibly damaging |
Het |
Cog5 |
T |
G |
12: 31,969,671 (GRCm39) |
S730R |
possibly damaging |
Het |
Col11a1 |
A |
T |
3: 113,987,578 (GRCm39) |
E1374D |
unknown |
Het |
Csmd1 |
A |
G |
8: 16,208,268 (GRCm39) |
I1229T |
possibly damaging |
Het |
Degs1l |
A |
G |
1: 180,882,577 (GRCm39) |
N113S |
possibly damaging |
Het |
Dnajc30 |
T |
C |
5: 135,093,232 (GRCm39) |
L43P |
probably damaging |
Het |
Eif3f |
C |
T |
7: 108,533,865 (GRCm39) |
T76M |
unknown |
Het |
Ermap |
G |
A |
4: 119,045,907 (GRCm39) |
T42I |
unknown |
Het |
Gpd1l |
C |
T |
9: 114,749,742 (GRCm39) |
G25S |
probably damaging |
Het |
Heatr1 |
G |
T |
13: 12,445,919 (GRCm39) |
W1632L |
possibly damaging |
Het |
Ice1 |
T |
C |
13: 70,744,286 (GRCm39) |
D29G |
|
Het |
Ipo8 |
T |
C |
6: 148,691,315 (GRCm39) |
D685G |
probably benign |
Het |
Klra10 |
T |
C |
6: 130,252,819 (GRCm39) |
T152A |
probably benign |
Het |
Lmntd1 |
T |
A |
6: 145,375,693 (GRCm39) |
S82C |
probably damaging |
Het |
Maip1 |
T |
C |
1: 57,446,190 (GRCm39) |
S87P |
possibly damaging |
Het |
Mapkapk2 |
A |
G |
1: 131,025,256 (GRCm39) |
S3P |
unknown |
Het |
Mei4 |
A |
G |
9: 81,772,292 (GRCm39) |
Y35C |
possibly damaging |
Het |
Ms4a14 |
T |
G |
19: 11,280,336 (GRCm39) |
K741Q |
probably benign |
Het |
Mtcl3 |
T |
C |
10: 29,072,999 (GRCm39) |
S764P |
possibly damaging |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Ncapg2 |
A |
G |
12: 116,382,888 (GRCm39) |
I240V |
possibly damaging |
Het |
Ncbp1 |
T |
A |
4: 46,149,914 (GRCm39) |
M145K |
probably damaging |
Het |
Nmur2 |
A |
G |
11: 55,923,766 (GRCm39) |
F263L |
probably damaging |
Het |
Ntrk2 |
A |
G |
13: 58,994,576 (GRCm39) |
E164G |
probably benign |
Het |
Or2ag1 |
A |
G |
7: 106,472,549 (GRCm39) |
L301S |
possibly damaging |
Het |
Or4c58 |
T |
A |
2: 89,674,616 (GRCm39) |
T234S |
probably damaging |
Het |
Or6c5b |
A |
T |
10: 129,245,754 (GRCm39) |
D173V |
probably benign |
Het |
P3h2 |
T |
A |
16: 25,803,815 (GRCm39) |
Y317F |
probably damaging |
Het |
Pcmtd1 |
C |
T |
1: 7,190,644 (GRCm39) |
R38C |
probably damaging |
Het |
Pcyox1 |
T |
C |
6: 86,368,661 (GRCm39) |
T286A |
possibly damaging |
Het |
Pdxk |
T |
C |
10: 78,283,801 (GRCm39) |
D131G |
probably benign |
Het |
Ppl |
T |
C |
16: 4,906,932 (GRCm39) |
D1121G |
probably damaging |
Het |
Prkra |
T |
C |
2: 76,463,942 (GRCm39) |
D240G |
probably benign |
Het |
Ptgs1 |
C |
A |
2: 36,135,222 (GRCm39) |
N395K |
probably benign |
Het |
Ptprq |
A |
T |
10: 107,426,820 (GRCm39) |
Y1572N |
probably damaging |
Het |
Pyroxd1 |
A |
T |
6: 142,304,227 (GRCm39) |
H326L |
probably benign |
Het |
Rbm46 |
T |
A |
3: 82,771,517 (GRCm39) |
E366V |
probably damaging |
Het |
Rnd1 |
G |
T |
15: 98,568,550 (GRCm39) |
H209Q |
probably benign |
Het |
Rnf122 |
A |
T |
8: 31,608,528 (GRCm39) |
D32V |
possibly damaging |
Het |
Samd4b |
G |
A |
7: 28,105,881 (GRCm39) |
P446S |
probably benign |
Het |
Slco1a5 |
C |
A |
6: 142,204,734 (GRCm39) |
A187S |
possibly damaging |
Het |
Smarca4 |
G |
A |
9: 21,597,543 (GRCm39) |
V1436M |
probably damaging |
Het |
Smok2a |
G |
A |
17: 13,445,526 (GRCm39) |
G368R |
possibly damaging |
Het |
Smok3c |
T |
A |
5: 138,062,757 (GRCm39) |
H81Q |
probably damaging |
Het |
Stk16 |
T |
C |
1: 75,190,296 (GRCm39) |
V245A |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,094,122 (GRCm39) |
N1505K |
possibly damaging |
Het |
Tigd4 |
G |
A |
3: 84,502,471 (GRCm39) |
A463T |
probably benign |
Het |
Tmem117 |
T |
C |
15: 94,612,799 (GRCm39) |
F112L |
probably benign |
Het |
Tmem72 |
A |
G |
6: 116,675,291 (GRCm39) |
I67T |
probably benign |
Het |
Tnik |
A |
G |
3: 28,718,058 (GRCm39) |
|
probably null |
Het |
Trav14-2 |
A |
G |
14: 53,878,515 (GRCm39) |
Q66R |
probably damaging |
Het |
Trpv6 |
T |
A |
6: 41,598,276 (GRCm39) |
D677V |
probably damaging |
Het |
Vgll4 |
C |
T |
6: 114,839,157 (GRCm39) |
S278N |
unknown |
Het |
Wdfy4 |
C |
T |
14: 32,792,575 (GRCm39) |
W2157* |
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 |
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 |
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'- TCTCCAGTAAATATGAGTCAGCC -3'
(R):5'- GCACTTGTCTCATGGTATGCTG -3'
Sequencing Primer
(F):5'- TATGAGTCAGCCTGCATGAGC -3'
(R):5'- CAGCAACCTCTTTTATTACAGGAAGC -3'
|
Posted On |
2019-10-07 |