Incidental Mutation 'R4004:Rapgef5'
| ID |
311403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rapgef5
|
| Ensembl Gene |
ENSMUSG00000041992 |
| Gene Name |
Rap guanine nucleotide exchange factor (GEF) 5 |
| Synonyms |
mr-gef, D030051B22Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4004 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
117480146-117723472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117712132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 740
(I740V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109691]
[ENSMUST00000222105]
[ENSMUST00000222185]
|
| AlphaFold |
Q8C0Q9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109691
AA Change: I740V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: I740V
| 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: ENSMUST00000222105
AA Change: I538V
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222185
AA Change: I506V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
A |
C |
7: 78,750,435 (GRCm39) |
E1735D |
probably damaging |
Het |
| Ano2 |
A |
G |
6: 125,990,242 (GRCm39) |
R788G |
probably damaging |
Het |
| Atg9a |
T |
C |
1: 75,163,095 (GRCm39) |
Y335C |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cblif |
T |
G |
19: 11,736,371 (GRCm39) |
V314G |
probably damaging |
Het |
| Ces1d |
A |
T |
8: 93,904,720 (GRCm39) |
F340Y |
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,454,914 (GRCm39) |
Q320R |
probably benign |
Het |
| Ctbp2 |
C |
A |
7: 132,593,502 (GRCm39) |
R733L |
probably benign |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,117,404 (GRCm39) |
C62F |
probably damaging |
Het |
| F2 |
T |
C |
2: 91,458,741 (GRCm39) |
N523S |
possibly damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fcgr1 |
A |
G |
3: 96,191,668 (GRCm39) |
V380A |
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,756,213 (GRCm39) |
P751Q |
possibly damaging |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,724,940 (GRCm39) |
S214P |
probably benign |
Het |
| Lrpap1 |
T |
A |
5: 35,262,888 (GRCm39) |
K50* |
probably null |
Het |
| Naa11 |
A |
T |
5: 97,539,652 (GRCm39) |
Y169N |
probably benign |
Het |
| Nup42 |
T |
C |
5: 24,387,434 (GRCm39) |
I408T |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,109,960 (GRCm39) |
H153L |
probably benign |
Het |
| Or2t35 |
C |
T |
14: 14,408,152 (GRCm38) |
A308V |
probably benign |
Het |
| Plxnc1 |
G |
A |
10: 94,630,459 (GRCm39) |
Q1512* |
probably null |
Het |
| Ptpn14 |
A |
G |
1: 189,582,707 (GRCm39) |
N518S |
probably benign |
Het |
| Ric1 |
C |
T |
19: 29,557,201 (GRCm39) |
R429C |
probably benign |
Het |
| Rpn2 |
T |
C |
2: 157,159,928 (GRCm39) |
L548P |
probably damaging |
Het |
| Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,818,786 (GRCm39) |
S580P |
probably damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,003,610 (GRCm39) |
Y496H |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Utp11 |
A |
T |
4: 124,576,230 (GRCm39) |
F138I |
probably damaging |
Het |
| Vcp |
G |
A |
4: 42,983,028 (GRCm39) |
T606I |
probably damaging |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp316 |
A |
G |
5: 143,240,874 (GRCm39) |
S382P |
possibly 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 |
|
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 |
|
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'- AAGGAAGTCTATTCTGCCCAC -3'
(R):5'- CTGTTCCATATGCCCAAAGAGACC -3'
Sequencing Primer
(F):5'- CCTTGTCAAATATGTGGCA -3'
(R):5'- CCTGGGAGTTACTCTGTGTACAAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation