Incidental Mutation 'R8675:Rapgef5'
ID |
661356 |
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 |
068530-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8675 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
117480146-117723472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 117547782 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 141
(L141M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105313
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109691]
[ENSMUST00000220781]
|
AlphaFold |
Q8C0Q9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109691
AA Change: L141M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105313 Gene: ENSMUSG00000041992 AA Change: L141M
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 damaging
Transcript: ENSMUST00000220781
AA Change: L249M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (37/37) |
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 |
1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
Abl2 |
T |
C |
1: 156,452,909 (GRCm39) |
V148A |
probably damaging |
Het |
Cacng7 |
G |
A |
7: 3,385,221 (GRCm39) |
V41I |
probably benign |
Het |
Clrn3 |
A |
G |
7: 135,115,880 (GRCm39) |
S157P |
possibly damaging |
Het |
Dsg2 |
T |
A |
18: 20,734,975 (GRCm39) |
N984K |
possibly damaging |
Het |
Fam83e |
A |
G |
7: 45,373,293 (GRCm39) |
T220A |
probably benign |
Het |
Frk |
A |
G |
10: 34,484,493 (GRCm39) |
T489A |
probably benign |
Het |
Gigyf2 |
T |
A |
1: 87,331,438 (GRCm39) |
H195Q |
unknown |
Het |
Gm49380 |
C |
T |
9: 44,023,187 (GRCm39) |
A354T |
probably benign |
Het |
Igfbpl1 |
T |
C |
4: 45,813,469 (GRCm39) |
T249A |
possibly damaging |
Het |
Il17ra |
T |
A |
6: 120,458,949 (GRCm39) |
M700K |
probably benign |
Het |
Il20 |
A |
T |
1: 130,835,172 (GRCm39) |
W171R |
probably damaging |
Het |
Mfsd4a |
T |
C |
1: 131,986,926 (GRCm39) |
Y134C |
probably damaging |
Het |
Mis12 |
A |
G |
11: 70,916,500 (GRCm39) |
S178G |
probably benign |
Het |
Pcdh1 |
A |
G |
18: 38,332,229 (GRCm39) |
V397A |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,158,896 (GRCm39) |
Y499C |
probably damaging |
Het |
Pgbd1 |
A |
G |
13: 21,607,183 (GRCm39) |
L337P |
probably damaging |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Pih1d1 |
A |
G |
7: 44,803,806 (GRCm39) |
K22E |
unknown |
Het |
Pkd1l1 |
A |
G |
11: 8,798,916 (GRCm39) |
|
probably null |
Het |
Pld2 |
A |
G |
11: 70,445,713 (GRCm39) |
D649G |
probably null |
Het |
Ralgapa1 |
T |
C |
12: 55,785,002 (GRCm39) |
T753A |
possibly damaging |
Het |
Rasgrp4 |
G |
A |
7: 28,842,452 (GRCm39) |
G242D |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,346,984 (GRCm39) |
S3682P |
|
Het |
Scnn1b |
A |
G |
7: 121,498,474 (GRCm39) |
K5E |
probably damaging |
Het |
Smbd1 |
T |
C |
16: 32,625,340 (GRCm39) |
*142W |
probably null |
Het |
Snrnp200 |
A |
G |
2: 127,074,443 (GRCm39) |
T1428A |
possibly damaging |
Het |
Speer1b |
C |
T |
5: 11,823,973 (GRCm39) |
R174* |
probably null |
Het |
Spire1 |
T |
C |
18: 67,624,378 (GRCm39) |
T594A |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,058,249 (GRCm39) |
T1906A |
probably benign |
Het |
Stx16 |
T |
C |
2: 173,934,255 (GRCm39) |
S152P |
probably benign |
Het |
Tcp11 |
T |
A |
17: 28,288,565 (GRCm39) |
Q331L |
probably benign |
Het |
Tmem106a |
T |
A |
11: 101,481,222 (GRCm39) |
Y243* |
probably null |
Het |
Tmem268 |
C |
T |
4: 63,502,108 (GRCm39) |
T312M |
probably damaging |
Het |
Ttc9 |
T |
G |
12: 81,707,379 (GRCm39) |
V146G |
probably damaging |
Het |
Ubr3 |
T |
A |
2: 69,850,865 (GRCm39) |
I1758N |
probably damaging |
Het |
Unc13a |
G |
A |
8: 72,098,359 (GRCm39) |
T1142I |
probably benign |
Het |
Vipr1 |
T |
C |
9: 121,493,732 (GRCm39) |
L261P |
probably damaging |
Het |
Vmn1r222 |
A |
T |
13: 23,416,607 (GRCm39) |
V202E |
probably damaging |
Het |
Zfp78 |
A |
G |
7: 6,381,280 (GRCm39) |
N110S |
probably benign |
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 |
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 |
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'- TCTGAGTACAGCCTTGTCTATGG -3'
(R):5'- TGGAAAGAGTGTTCCTACCAC -3'
Sequencing Primer
(F):5'- GAGTACAGCCTTGTCTATGGATTCTC -3'
(R):5'- CACTCAAACAAGTGGGGATCTGC -3'
|
Posted On |
2021-03-08 |