Incidental Mutation 'R1505:Rapgef5'
ID |
169132 |
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 |
040868-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1505 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
117480146-117723472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 117652354 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 79
(V79A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152875
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109691]
[ENSMUST00000222105]
[ENSMUST00000222185]
|
AlphaFold |
Q8C0Q9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109691
AA Change: V281A
PolyPhen 2
Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105313 Gene: ENSMUSG00000041992 AA Change: V281A
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 |
possibly damaging
Transcript: ENSMUST00000222105
AA Change: V79A
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222185
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223040
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.5%
- 20x: 86.3%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
T |
A |
5: 105,099,431 (GRCm39) |
R444W |
probably damaging |
Het |
Adnp |
A |
G |
2: 168,025,661 (GRCm39) |
S545P |
possibly damaging |
Het |
Ankrd17 |
T |
C |
5: 90,447,885 (GRCm39) |
R219G |
possibly damaging |
Het |
Ap2m1 |
C |
G |
16: 20,361,447 (GRCm39) |
P372A |
probably benign |
Het |
Calml3 |
T |
A |
13: 3,854,071 (GRCm39) |
T45S |
probably benign |
Het |
Casp8 |
A |
G |
1: 58,868,081 (GRCm39) |
E174G |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
Cfap221 |
A |
C |
1: 119,881,358 (GRCm39) |
L368R |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,733,123 (GRCm39) |
|
probably null |
Het |
Cnot1 |
A |
T |
8: 96,455,295 (GRCm39) |
I2035N |
probably damaging |
Het |
Cyp2c67 |
T |
C |
19: 39,637,408 (GRCm39) |
R23G |
probably benign |
Het |
Dnah10 |
A |
C |
5: 124,831,303 (GRCm39) |
H777P |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam162b |
G |
A |
10: 51,463,298 (GRCm39) |
A123V |
probably damaging |
Het |
Golgb1 |
T |
A |
16: 36,740,005 (GRCm39) |
N2781K |
possibly damaging |
Het |
Hs2st1 |
C |
A |
3: 144,140,322 (GRCm39) |
R333L |
probably benign |
Het |
Kmt2e |
A |
G |
5: 23,705,533 (GRCm39) |
H1319R |
probably null |
Het |
Necab1 |
A |
T |
4: 14,960,047 (GRCm39) |
M300K |
probably benign |
Het |
Ntrk3 |
T |
A |
7: 78,110,272 (GRCm39) |
I321F |
probably damaging |
Het |
Or5p60 |
A |
G |
7: 107,724,200 (GRCm39) |
V90A |
probably benign |
Het |
Or7e169 |
A |
T |
9: 19,757,084 (GRCm39) |
M277K |
probably benign |
Het |
Or8g52 |
A |
G |
9: 39,630,774 (GRCm39) |
N84D |
probably damaging |
Het |
Or8k41 |
A |
T |
2: 86,313,557 (GRCm39) |
H176Q |
possibly damaging |
Het |
Osbpl6 |
T |
C |
2: 76,409,586 (GRCm39) |
S483P |
probably damaging |
Het |
Pcdhb17 |
A |
C |
18: 37,619,875 (GRCm39) |
N555T |
probably damaging |
Het |
Pdgfc |
G |
A |
3: 81,116,543 (GRCm39) |
R299H |
possibly damaging |
Het |
Ptpn7 |
A |
T |
1: 135,062,302 (GRCm39) |
T83S |
probably benign |
Het |
Rexo5 |
T |
A |
7: 119,398,826 (GRCm39) |
C54* |
probably null |
Het |
Riok3 |
A |
G |
18: 12,285,935 (GRCm39) |
K418R |
probably benign |
Het |
Robo4 |
G |
A |
9: 37,314,523 (GRCm39) |
G170D |
probably damaging |
Het |
Rpl8 |
A |
G |
15: 76,788,610 (GRCm39) |
D33G |
possibly damaging |
Het |
Rspo2 |
T |
C |
15: 42,939,239 (GRCm39) |
T184A |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,569,478 (GRCm39) |
M4942K |
possibly damaging |
Het |
Sel1l |
T |
C |
12: 91,780,736 (GRCm39) |
Y585C |
probably damaging |
Het |
Slc25a11 |
G |
T |
11: 70,537,650 (GRCm39) |
D13E |
probably benign |
Het |
Slc5a6 |
G |
T |
5: 31,194,455 (GRCm39) |
H584N |
probably benign |
Het |
Snrpf |
A |
G |
10: 93,419,381 (GRCm39) |
V69A |
possibly damaging |
Het |
Sorbs3 |
T |
A |
14: 70,428,251 (GRCm39) |
K475* |
probably null |
Het |
Speg |
G |
A |
1: 75,352,186 (GRCm39) |
V35I |
probably benign |
Het |
Tlk2 |
T |
G |
11: 105,151,121 (GRCm39) |
V468G |
probably damaging |
Het |
Trim6 |
T |
A |
7: 103,881,771 (GRCm39) |
W341R |
probably damaging |
Het |
Ttll5 |
T |
A |
12: 85,926,184 (GRCm39) |
I326N |
probably damaging |
Het |
Vipas39 |
T |
C |
12: 87,292,934 (GRCm39) |
Y318C |
probably damaging |
Het |
Vmn1r185 |
T |
A |
7: 26,310,903 (GRCm39) |
I201F |
probably damaging |
Het |
Vwce |
A |
G |
19: 10,641,608 (GRCm39) |
H778R |
probably benign |
Het |
Zbtb14 |
C |
G |
17: 69,694,759 (GRCm39) |
I152M |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CCCACTCACAGGTTGCTTTAGCATC -3'
(R):5'- CCTTTCACTGGGAACTGAGTCCATC -3'
Sequencing Primer
(F):5'- AGAGACCTTGAGCCTAGATTCTG -3'
(R):5'- ggagagaaaagagggaggagg -3'
|
Posted On |
2014-04-13 |