Incidental Mutation 'R0173:Rapgef5'
| ID |
23729 |
| 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 |
038445-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0173 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
12 |
| Chromosomal Location |
117480146-117723472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117652411 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 300
(D300G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105313
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109691]
[ENSMUST00000222105]
[ENSMUST00000222185]
|
| AlphaFold |
Q8C0Q9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109691
AA Change: D300G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000105313
Gene: ENSMUSG00000041992
AA Change: D300G
| 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: D98G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222185
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223040
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.1%
|
| Validation Efficiency |
96% (64/67) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330008L17Rik |
G |
A |
8: 100,148,286 (GRCm39) |
|
noncoding transcript |
Het |
| Akt1s1 |
C |
T |
7: 44,502,284 (GRCm39) |
P95S |
possibly damaging |
Het |
| Ambra1 |
T |
C |
2: 91,640,564 (GRCm39) |
|
probably benign |
Het |
| Aunip |
T |
A |
4: 134,250,861 (GRCm39) |
W269R |
probably damaging |
Het |
| Bmper |
A |
G |
9: 23,136,125 (GRCm39) |
M69V |
probably benign |
Het |
| Cdh2 |
A |
T |
18: 16,783,314 (GRCm39) |
|
probably benign |
Het |
| Cenpe |
T |
C |
3: 134,965,744 (GRCm39) |
M2074T |
probably benign |
Het |
| Col14a1 |
C |
T |
15: 55,351,928 (GRCm39) |
P1592S |
probably damaging |
Het |
| Csgalnact1 |
G |
A |
8: 68,913,681 (GRCm39) |
R175C |
probably damaging |
Het |
| Dtx1 |
A |
G |
5: 120,820,818 (GRCm39) |
|
probably benign |
Het |
| Elmod3 |
T |
C |
6: 72,554,571 (GRCm39) |
D154G |
probably damaging |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Gab1 |
T |
C |
8: 81,526,789 (GRCm39) |
D103G |
possibly damaging |
Het |
| Gon4l |
A |
G |
3: 88,765,710 (GRCm39) |
D377G |
probably damaging |
Het |
| Gramd1c |
C |
T |
16: 43,818,196 (GRCm39) |
R328K |
possibly damaging |
Het |
| Hdac3 |
A |
G |
18: 38,074,806 (GRCm39) |
S312P |
probably damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,328,343 (GRCm39) |
|
probably null |
Het |
| Intu |
T |
C |
3: 40,629,776 (GRCm39) |
|
probably null |
Het |
| Lnpk |
T |
C |
2: 74,381,409 (GRCm39) |
K118R |
probably damaging |
Het |
| Lzts3 |
A |
C |
2: 130,476,688 (GRCm39) |
*587G |
probably null |
Het |
| Mctp2 |
C |
T |
7: 71,896,855 (GRCm39) |
|
probably null |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mmp23 |
G |
T |
4: 155,735,222 (GRCm39) |
R374S |
possibly damaging |
Het |
| Morc3 |
G |
A |
16: 93,629,094 (GRCm39) |
|
probably null |
Het |
| Mymk |
C |
T |
2: 26,952,262 (GRCm39) |
A161T |
probably damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Neb |
T |
C |
2: 52,133,859 (GRCm39) |
S3375G |
probably damaging |
Het |
| Nedd1 |
T |
C |
10: 92,534,745 (GRCm39) |
D255G |
probably benign |
Het |
| Nid2 |
T |
C |
14: 19,852,400 (GRCm39) |
|
probably benign |
Het |
| Nr1d2 |
A |
G |
14: 18,215,502 (GRCm38) |
|
probably benign |
Het |
| Nus1 |
A |
G |
10: 52,294,094 (GRCm39) |
H86R |
possibly damaging |
Het |
| Or5b118 |
A |
T |
19: 13,449,065 (GRCm39) |
I244F |
probably benign |
Het |
| Or7g17 |
A |
G |
9: 18,768,325 (GRCm39) |
I135V |
probably damaging |
Het |
| Plcxd2 |
A |
T |
16: 45,785,542 (GRCm39) |
|
probably null |
Het |
| Prdm9 |
T |
A |
17: 15,764,275 (GRCm39) |
D835V |
probably benign |
Het |
| Prdm9 |
A |
G |
17: 15,764,297 (GRCm39) |
W828R |
probably benign |
Het |
| Prkd2 |
T |
C |
7: 16,582,969 (GRCm39) |
S244P |
probably benign |
Het |
| Psmd4 |
A |
T |
3: 94,940,234 (GRCm39) |
L159H |
probably damaging |
Het |
| Qprt |
C |
T |
7: 126,707,543 (GRCm39) |
G215E |
probably damaging |
Het |
| Rab3gap2 |
C |
A |
1: 184,982,104 (GRCm39) |
H385Q |
possibly damaging |
Het |
| Rbl1 |
A |
T |
2: 157,001,605 (GRCm39) |
N894K |
probably benign |
Het |
| Rgma |
C |
T |
7: 73,067,302 (GRCm39) |
R280W |
probably damaging |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rundc3a |
T |
A |
11: 102,289,071 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
A |
T |
15: 96,318,075 (GRCm39) |
D496E |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,363,437 (GRCm39) |
Y936C |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,159,564 (GRCm39) |
|
probably benign |
Het |
| Serpinb9 |
G |
A |
13: 33,194,705 (GRCm39) |
D154N |
probably benign |
Het |
| Slc48a1 |
A |
T |
15: 97,688,555 (GRCm39) |
H131L |
possibly damaging |
Het |
| Slco1a6 |
T |
C |
6: 142,048,848 (GRCm39) |
N311D |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,979,229 (GRCm39) |
V423A |
probably damaging |
Het |
| Srrm2 |
C |
A |
17: 24,034,103 (GRCm39) |
|
probably benign |
Het |
| Srsf12 |
A |
T |
4: 33,226,117 (GRCm39) |
S122C |
probably damaging |
Het |
| Suclg2 |
G |
C |
6: 95,452,154 (GRCm39) |
|
probably benign |
Het |
| Tbpl1 |
A |
T |
10: 22,583,523 (GRCm39) |
L149* |
probably null |
Het |
| Tmem144 |
G |
A |
3: 79,746,580 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
T |
C |
1: 180,782,363 (GRCm39) |
|
probably benign |
Het |
| Tut1 |
C |
T |
19: 8,942,847 (GRCm39) |
R645* |
probably null |
Het |
| Ubqln4 |
T |
A |
3: 88,462,686 (GRCm39) |
D50E |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,004,919 (GRCm39) |
S1227P |
probably damaging |
Het |
| Vipas39 |
A |
G |
12: 87,297,285 (GRCm39) |
|
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vps26b |
G |
A |
9: 26,924,101 (GRCm39) |
T214I |
probably benign |
Het |
| Xpc |
A |
G |
6: 91,481,717 (GRCm39) |
|
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 |
|
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 |
|
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'- AGTCCATCTGGCTGCTAAGAG -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation