Incidental Mutation 'R2169:Rapgef5'
| ID |
235677 |
| 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 |
040172-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2169 (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 117679130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 234
(Y234C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152875
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109691]
[ENSMUST00000222105]
[ENSMUST00000222185]
|
| AlphaFold |
Q8C0Q9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109691
AA Change: Y436C
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: Y436C
| 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: Y234C
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222185
AA Change: Y202C
PolyPhen 2
Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223040
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,622,349 (GRCm39) |
T606A |
probably benign |
Het |
| Adtrp |
T |
A |
13: 41,920,905 (GRCm39) |
S221C |
possibly damaging |
Het |
| Ap1g2 |
T |
A |
14: 55,336,797 (GRCm39) |
|
probably null |
Het |
| Arhgef5 |
A |
T |
6: 43,251,354 (GRCm39) |
M702L |
probably benign |
Het |
| Axdnd1 |
A |
G |
1: 156,245,879 (GRCm39) |
V34A |
probably damaging |
Het |
| Ccdc154 |
T |
A |
17: 25,389,897 (GRCm39) |
V509E |
probably damaging |
Het |
| Cttnbp2 |
C |
T |
6: 18,426,096 (GRCm39) |
D761N |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,486,138 (GRCm39) |
|
probably null |
Het |
| Dipk1a |
A |
T |
5: 108,057,325 (GRCm39) |
L411* |
probably null |
Het |
| Fam241b |
A |
T |
10: 61,945,745 (GRCm39) |
I4N |
probably damaging |
Het |
| Gm5800 |
T |
C |
14: 51,951,135 (GRCm39) |
K155E |
possibly damaging |
Het |
| Hemgn |
T |
A |
4: 46,396,417 (GRCm39) |
H273L |
possibly damaging |
Het |
| Hsp90aa1 |
A |
G |
12: 110,659,168 (GRCm39) |
V543A |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,299 (GRCm39) |
K113E |
probably benign |
Het |
| Hspb2 |
A |
G |
9: 50,663,015 (GRCm39) |
I38T |
probably damaging |
Het |
| Htt |
A |
T |
5: 35,034,819 (GRCm39) |
E2021D |
probably benign |
Het |
| Lrpprc |
C |
T |
17: 85,077,505 (GRCm39) |
R394Q |
probably benign |
Het |
| Lrrc8b |
T |
C |
5: 105,629,753 (GRCm39) |
Y700H |
probably damaging |
Het |
| Mefv |
A |
G |
16: 3,528,752 (GRCm39) |
V593A |
probably benign |
Het |
| Mrgprh |
C |
T |
17: 13,095,856 (GRCm39) |
T32M |
probably benign |
Het |
| Mrpl18 |
A |
G |
17: 13,132,655 (GRCm39) |
|
probably null |
Het |
| Muc1 |
A |
G |
3: 89,138,903 (GRCm39) |
E504G |
probably damaging |
Het |
| Ndufa13 |
G |
A |
8: 70,347,169 (GRCm39) |
A77V |
probably damaging |
Het |
| Or8g33 |
A |
G |
9: 39,337,654 (GRCm39) |
F238L |
possibly damaging |
Het |
| Pgbd5 |
T |
A |
8: 125,111,363 (GRCm39) |
|
probably null |
Het |
| Pgm5 |
T |
A |
19: 24,812,179 (GRCm39) |
I118F |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,704,572 (GRCm39) |
F264L |
possibly damaging |
Het |
| Polr3e |
C |
T |
7: 120,531,360 (GRCm39) |
R176W |
probably damaging |
Het |
| Prkacb |
C |
T |
3: 146,452,438 (GRCm39) |
|
probably null |
Het |
| Rab19 |
T |
G |
6: 39,360,975 (GRCm39) |
V41G |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,018,863 (GRCm39) |
T659A |
probably damaging |
Het |
| Slc6a2 |
G |
A |
8: 93,720,729 (GRCm39) |
V449I |
probably benign |
Het |
| Stab2 |
A |
G |
10: 86,723,726 (GRCm39) |
S1490P |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,548,005 (GRCm39) |
T713A |
probably damaging |
Het |
| Tmc6 |
A |
T |
11: 117,659,932 (GRCm39) |
L732Q |
probably damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Vmn1r203 |
A |
T |
13: 22,708,905 (GRCm39) |
K229* |
probably null |
Het |
| Xylt1 |
G |
A |
7: 117,266,660 (GRCm39) |
G893R |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,907 (GRCm39) |
S69T |
probably damaging |
Het |
| Zfp114 |
C |
T |
7: 23,880,509 (GRCm39) |
T285I |
probably benign |
Het |
| Zfp458 |
T |
C |
13: 67,405,113 (GRCm39) |
E439G |
probably damaging |
Het |
| Zfp65 |
G |
A |
13: 67,858,499 (GRCm39) |
T55I |
probably damaging |
Het |
| Zmym1 |
C |
T |
4: 126,947,996 (GRCm39) |
|
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 |
|
|
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'- TGGCTGGAGACCACATTACTTC -3'
(R):5'- AAAGGTCTGGAGTCTGATTCG -3'
Sequencing Primer
(F):5'- AAACGTGTGTTTGACCACTGAGC -3'
(R):5'- AAAGGTCTGGAGTCTGATTCGTTTTC -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation