Incidental Mutation 'R8475:Rapgef5'
| ID |
657239 |
| 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 |
067919-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8475 (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 C
at 117681965 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 215
(K215Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109691]
[ENSMUST00000222105]
[ENSMUST00000222185]
|
| AlphaFold |
Q8C0Q9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109691
AA Change: K449Q
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: K449Q
| 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: K247Q
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222185
AA Change: K215Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| Meta Mutation Damage Score |
0.2097 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (48/48) |
| 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 |
|---|
| 1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
| Adamts14 |
T |
C |
10: 61,038,666 (GRCm39) |
E945G |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,871,976 (GRCm39) |
V958A |
probably benign |
Het |
| Adh6a |
T |
C |
3: 138,030,979 (GRCm39) |
I156T |
probably benign |
Het |
| Akt1 |
A |
G |
12: 112,624,863 (GRCm39) |
V201A |
possibly damaging |
Het |
| Als2cl |
C |
G |
9: 110,715,484 (GRCm39) |
A182G |
possibly damaging |
Het |
| Amn |
T |
A |
12: 111,241,819 (GRCm39) |
L295Q |
probably benign |
Het |
| Dbf4 |
A |
G |
5: 8,448,664 (GRCm39) |
|
probably benign |
Het |
| Depdc7 |
G |
A |
2: 104,552,314 (GRCm39) |
R498C |
probably benign |
Het |
| Eogt |
A |
T |
6: 97,122,327 (GRCm39) |
Y35* |
probably null |
Het |
| Epb41l1 |
T |
G |
2: 156,364,150 (GRCm39) |
S886R |
probably damaging |
Het |
| Fshr |
A |
T |
17: 89,293,456 (GRCm39) |
D407E |
probably damaging |
Het |
| Gngt1 |
C |
A |
6: 3,994,262 (GRCm39) |
D13E |
probably benign |
Het |
| Grxcr1 |
T |
C |
5: 68,323,484 (GRCm39) |
L254P |
possibly damaging |
Het |
| Itga11 |
A |
G |
9: 62,651,327 (GRCm39) |
D290G |
probably damaging |
Het |
| Klf16 |
A |
G |
10: 80,412,719 (GRCm39) |
S106P |
probably benign |
Het |
| Klk1b5 |
A |
G |
7: 43,500,204 (GRCm39) |
D264G |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 26,977,369 (GRCm39) |
V1937M |
possibly damaging |
Het |
| Lipi |
T |
A |
16: 75,370,862 (GRCm39) |
K118N |
probably benign |
Het |
| Manba |
G |
A |
3: 135,217,573 (GRCm39) |
V130I |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,164 (GRCm39) |
S527G |
probably damaging |
Het |
| Masp1 |
C |
A |
16: 23,271,281 (GRCm39) |
V656L |
probably damaging |
Het |
| Mrpl10 |
A |
T |
11: 96,938,261 (GRCm39) |
N137I |
probably benign |
Het |
| Mtfmt |
C |
A |
9: 65,359,469 (GRCm39) |
N381K |
probably benign |
Het |
| Myo18b |
A |
T |
5: 113,021,422 (GRCm39) |
Y546* |
probably null |
Het |
| Nectin4 |
C |
T |
1: 171,212,280 (GRCm39) |
R293* |
probably null |
Het |
| Nudt3 |
A |
G |
17: 27,799,776 (GRCm39) |
S136P |
possibly damaging |
Het |
| Or14c39 |
A |
C |
7: 86,344,361 (GRCm39) |
R232S |
probably benign |
Het |
| Or1q1 |
G |
A |
2: 36,887,066 (GRCm39) |
M81I |
probably damaging |
Het |
| Or4a81 |
T |
C |
2: 89,619,586 (GRCm39) |
M37V |
probably benign |
Het |
| Or52h7 |
A |
G |
7: 104,214,066 (GRCm39) |
M213V |
probably benign |
Het |
| Or9m2 |
T |
C |
2: 87,820,536 (GRCm39) |
L27P |
probably damaging |
Het |
| Oxnad1 |
A |
G |
14: 31,823,250 (GRCm39) |
|
probably null |
Het |
| Parn |
A |
G |
16: 13,425,113 (GRCm39) |
|
probably null |
Het |
| Pcdha12 |
T |
C |
18: 37,154,136 (GRCm39) |
V285A |
possibly damaging |
Het |
| Pfkfb2 |
G |
C |
1: 130,624,816 (GRCm39) |
Q515E |
probably benign |
Het |
| Pjvk |
T |
C |
2: 76,480,901 (GRCm39) |
F40L |
probably benign |
Het |
| Pygo2 |
A |
G |
3: 89,340,697 (GRCm39) |
Y328C |
probably damaging |
Het |
| Sephs1 |
T |
A |
2: 4,893,821 (GRCm39) |
|
probably null |
Het |
| Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
| Spmip4 |
A |
G |
6: 50,566,107 (GRCm39) |
Y123H |
probably damaging |
Het |
| Tbx21 |
A |
T |
11: 96,990,808 (GRCm39) |
V290D |
possibly damaging |
Het |
| Tep1 |
C |
A |
14: 51,078,712 (GRCm39) |
G1514W |
probably damaging |
Het |
| Vmn2r16 |
T |
C |
5: 109,487,073 (GRCm39) |
M98T |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,150,455 (GRCm39) |
N474S |
probably benign |
Het |
| Zpbp |
T |
C |
11: 11,365,203 (GRCm39) |
K215E |
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 |
|
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 |
|
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'- GAGCACAGTGACAGATGCATT -3'
(R):5'- TGTCGACAAGTCAAAGGTCCA -3'
Sequencing Primer
(F):5'- ATCCCACTGTGTAGATCCTGGG -3'
(R):5'- TGTCGACAAGTCAAAGGTCCATATAC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation