Incidental Mutation 'R0620:Rasgrf2'
ID |
58623 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrf2
|
Ensembl Gene |
ENSMUSG00000021708 |
Gene Name |
RAS protein-specific guanine nucleotide-releasing factor 2 |
Synonyms |
Grf2, 6330417G04Rik |
MMRRC Submission |
038809-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R0620 (G1)
|
Quality Score |
193 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 92067936 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
|
AlphaFold |
P70392 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099326
|
SMART Domains |
Protein: ENSMUSP00000096930 Gene: ENSMUSG00000021708
Domain | Start | End | E-Value | Type |
PH
|
23 |
135 |
1.29e-16 |
SMART |
IQ
|
204 |
226 |
1.3e0 |
SMART |
RhoGEF
|
247 |
428 |
2.2e-51 |
SMART |
RasGEFN
|
633 |
775 |
9.35e-15 |
SMART |
RasGEFN
|
786 |
923 |
6.04e-9 |
SMART |
RasGEF
|
949 |
1186 |
2.97e-112 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000151408
|
SMART Domains |
Protein: ENSMUSP00000116892 Gene: ENSMUSG00000021708
Domain | Start | End | E-Value | Type |
RasGEFN
|
33 |
175 |
9.35e-15 |
SMART |
RasGEFN
|
186 |
323 |
6.04e-9 |
SMART |
RasGEF
|
349 |
586 |
2.97e-112 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.1%
|
Validation Efficiency |
100% (74/74) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011] PHENOTYPE: Mice homozygous for a targeted null mutation exhibit decreased Il2 and TNF-alpha production in stimulated T cells. Mice homozygous for mutations in both Rasgrf1 and Rasgrf2 exhibit no additional abnormalities than those observed in the Rasgrf1 mutant mice. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
T |
C |
6: 92,835,094 (GRCm39) |
T679A |
possibly damaging |
Het |
Ahr |
T |
C |
12: 35,558,193 (GRCm39) |
T276A |
probably benign |
Het |
Akap9 |
A |
T |
5: 4,114,136 (GRCm39) |
Q3138H |
probably damaging |
Het |
Armt1 |
T |
A |
10: 4,382,689 (GRCm39) |
F7I |
probably benign |
Het |
B3galt2 |
A |
G |
1: 143,521,878 (GRCm39) |
R5G |
probably damaging |
Het |
Bod1l |
T |
C |
5: 41,958,576 (GRCm39) |
N2750S |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,583,395 (GRCm39) |
E365V |
probably damaging |
Het |
Cd200r3 |
T |
A |
16: 44,778,080 (GRCm39) |
|
probably null |
Het |
Cemip2 |
T |
A |
19: 21,795,335 (GRCm39) |
S743T |
probably benign |
Het |
Cst7 |
T |
A |
2: 150,417,806 (GRCm39) |
|
probably benign |
Het |
Defb30 |
A |
T |
14: 63,287,212 (GRCm39) |
|
probably benign |
Het |
Dido1 |
C |
T |
2: 180,301,644 (GRCm39) |
G2087S |
probably benign |
Het |
Dio2 |
A |
G |
12: 90,704,845 (GRCm39) |
Y72H |
probably benign |
Het |
Dnah11 |
C |
T |
12: 117,951,204 (GRCm39) |
E3035K |
probably damaging |
Het |
Dnajb13 |
T |
C |
7: 100,152,456 (GRCm39) |
K287E |
possibly damaging |
Het |
Dnajc11 |
G |
A |
4: 152,058,085 (GRCm39) |
V244I |
possibly damaging |
Het |
Ect2 |
C |
T |
3: 27,193,801 (GRCm39) |
A226T |
probably damaging |
Het |
Ercc8 |
G |
A |
13: 108,310,595 (GRCm39) |
|
probably null |
Het |
Fam120b |
T |
A |
17: 15,623,189 (GRCm39) |
M389K |
probably benign |
Het |
Fam151a |
A |
G |
4: 106,605,128 (GRCm39) |
M497V |
probably benign |
Het |
Fam186b |
C |
A |
15: 99,178,009 (GRCm39) |
G439V |
probably benign |
Het |
Fank1 |
A |
G |
7: 133,478,494 (GRCm39) |
Y185C |
probably damaging |
Het |
Gart |
T |
C |
16: 91,427,490 (GRCm39) |
|
probably benign |
Het |
Glb1l |
T |
C |
1: 75,176,364 (GRCm39) |
Y572C |
probably damaging |
Het |
Gm11563 |
C |
T |
11: 99,549,263 (GRCm39) |
A164T |
unknown |
Het |
Gnb4 |
C |
T |
3: 32,645,356 (GRCm39) |
V112I |
probably benign |
Het |
Gsdmc3 |
T |
A |
15: 63,731,542 (GRCm39) |
D330V |
probably damaging |
Het |
H2-DMa |
C |
T |
17: 34,356,934 (GRCm39) |
T144M |
probably damaging |
Het |
Haus6 |
A |
T |
4: 86,501,751 (GRCm39) |
F707I |
possibly damaging |
Het |
Hmcn1 |
T |
A |
1: 150,469,767 (GRCm39) |
T4971S |
probably benign |
Het |
Ints6 |
A |
T |
14: 62,934,208 (GRCm39) |
F766L |
probably benign |
Het |
Kdm5d |
T |
A |
Y: 927,330 (GRCm39) |
M650K |
probably damaging |
Het |
Kif21b |
T |
C |
1: 136,087,166 (GRCm39) |
F881S |
possibly damaging |
Het |
Klrk1 |
C |
A |
6: 129,591,598 (GRCm39) |
Q176H |
possibly damaging |
Het |
Ky |
T |
C |
9: 102,414,820 (GRCm39) |
V244A |
probably benign |
Het |
Mia2 |
T |
A |
12: 59,201,205 (GRCm39) |
L191M |
possibly damaging |
Het |
Miga2 |
T |
A |
2: 30,271,756 (GRCm39) |
|
probably benign |
Het |
Mtss2 |
C |
T |
8: 111,464,580 (GRCm39) |
P322S |
probably damaging |
Het |
Nalcn |
A |
G |
14: 123,536,553 (GRCm39) |
|
probably benign |
Het |
Ncbp3 |
T |
A |
11: 72,940,671 (GRCm39) |
|
probably benign |
Het |
Nprl3 |
G |
A |
11: 32,184,876 (GRCm39) |
L378F |
probably damaging |
Het |
Ntrk2 |
A |
T |
13: 58,994,635 (GRCm39) |
M184L |
probably benign |
Het |
Or11g1 |
G |
T |
14: 50,651,154 (GRCm39) |
C51F |
probably benign |
Het |
Or9e1 |
T |
G |
11: 58,732,269 (GRCm39) |
C110G |
probably damaging |
Het |
Osbpl9 |
T |
C |
4: 108,940,325 (GRCm39) |
E287G |
probably damaging |
Het |
Parva |
T |
C |
7: 112,175,618 (GRCm39) |
F250L |
probably damaging |
Het |
Pcdhb11 |
C |
T |
18: 37,554,864 (GRCm39) |
Q65* |
probably null |
Het |
Phtf1 |
A |
G |
3: 103,901,081 (GRCm39) |
T377A |
probably damaging |
Het |
Pkp4 |
G |
A |
2: 59,152,987 (GRCm39) |
V612I |
possibly damaging |
Het |
Plscr2 |
C |
A |
9: 92,169,707 (GRCm39) |
S52R |
probably benign |
Het |
Pnisr |
C |
T |
4: 21,874,092 (GRCm39) |
|
probably benign |
Het |
Pole2 |
A |
C |
12: 69,256,653 (GRCm39) |
S291A |
probably damaging |
Het |
Ppp2r5d |
A |
G |
17: 46,994,944 (GRCm39) |
F586L |
probably benign |
Het |
Prrx1 |
G |
A |
1: 163,085,385 (GRCm39) |
R182C |
probably damaging |
Het |
Ptprs |
A |
G |
17: 56,736,103 (GRCm39) |
I110T |
possibly damaging |
Het |
Resf1 |
A |
T |
6: 149,229,873 (GRCm39) |
Q973L |
probably damaging |
Het |
Riox2 |
T |
C |
16: 59,312,255 (GRCm39) |
V464A |
probably benign |
Het |
Robo2 |
A |
G |
16: 73,764,690 (GRCm39) |
V646A |
possibly damaging |
Het |
Ros1 |
T |
A |
10: 51,994,444 (GRCm39) |
I1279F |
probably damaging |
Het |
Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
Snx7 |
T |
C |
3: 117,640,324 (GRCm39) |
N62D |
probably damaging |
Het |
Sp100 |
G |
A |
1: 85,587,588 (GRCm39) |
|
probably null |
Het |
Stil |
A |
T |
4: 114,864,356 (GRCm39) |
I86L |
possibly damaging |
Het |
Tbc1d16 |
T |
A |
11: 119,099,864 (GRCm39) |
D170V |
probably benign |
Het |
Trappc13 |
G |
A |
13: 104,297,589 (GRCm39) |
T105M |
probably damaging |
Het |
Trhr |
T |
A |
15: 44,092,896 (GRCm39) |
S378T |
probably benign |
Het |
Ttc7b |
T |
C |
12: 100,466,332 (GRCm39) |
|
probably null |
Het |
Vegfc |
A |
T |
8: 54,610,174 (GRCm39) |
Y110F |
probably benign |
Het |
Vmn1r184 |
C |
A |
7: 25,966,602 (GRCm39) |
P116H |
possibly damaging |
Het |
Vmn2r5 |
A |
T |
3: 64,411,235 (GRCm39) |
C444* |
probably null |
Het |
Zfp341 |
A |
G |
2: 154,476,193 (GRCm39) |
E460G |
possibly damaging |
Het |
Zfp819 |
T |
A |
7: 43,265,868 (GRCm39) |
V41E |
probably benign |
Het |
|
Other mutations in Rasgrf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01308:Rasgrf2
|
APN |
13 |
92,159,425 (GRCm39) |
splice site |
probably benign |
|
IGL01358:Rasgrf2
|
APN |
13 |
92,130,749 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01666:Rasgrf2
|
APN |
13 |
92,174,718 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01930:Rasgrf2
|
APN |
13 |
92,130,857 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02230:Rasgrf2
|
APN |
13 |
92,136,145 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02630:Rasgrf2
|
APN |
13 |
92,267,900 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02690:Rasgrf2
|
APN |
13 |
92,167,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02943:Rasgrf2
|
APN |
13 |
92,131,752 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03067:Rasgrf2
|
APN |
13 |
92,159,413 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03342:Rasgrf2
|
APN |
13 |
92,136,098 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03405:Rasgrf2
|
APN |
13 |
92,044,170 (GRCm39) |
missense |
probably damaging |
1.00 |
R0632:Rasgrf2
|
UTSW |
13 |
92,120,393 (GRCm39) |
missense |
probably benign |
0.00 |
R0894:Rasgrf2
|
UTSW |
13 |
92,130,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R1354:Rasgrf2
|
UTSW |
13 |
92,165,174 (GRCm39) |
missense |
probably damaging |
1.00 |
R1400:Rasgrf2
|
UTSW |
13 |
92,035,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R1437:Rasgrf2
|
UTSW |
13 |
92,167,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R1443:Rasgrf2
|
UTSW |
13 |
92,131,795 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Rasgrf2
|
UTSW |
13 |
92,044,205 (GRCm39) |
missense |
probably benign |
0.00 |
R1553:Rasgrf2
|
UTSW |
13 |
92,038,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R1613:Rasgrf2
|
UTSW |
13 |
92,050,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R1883:Rasgrf2
|
UTSW |
13 |
92,117,149 (GRCm39) |
missense |
probably benign |
|
R1934:Rasgrf2
|
UTSW |
13 |
92,131,825 (GRCm39) |
splice site |
probably null |
|
R1990:Rasgrf2
|
UTSW |
13 |
92,172,473 (GRCm39) |
missense |
probably damaging |
1.00 |
R2037:Rasgrf2
|
UTSW |
13 |
92,050,748 (GRCm39) |
missense |
probably damaging |
0.99 |
R2043:Rasgrf2
|
UTSW |
13 |
92,167,351 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2135:Rasgrf2
|
UTSW |
13 |
92,120,374 (GRCm39) |
missense |
probably benign |
|
R2193:Rasgrf2
|
UTSW |
13 |
92,160,221 (GRCm39) |
splice site |
probably null |
|
R2406:Rasgrf2
|
UTSW |
13 |
92,120,359 (GRCm39) |
missense |
probably benign |
|
R3055:Rasgrf2
|
UTSW |
13 |
92,165,583 (GRCm39) |
missense |
probably damaging |
1.00 |
R3916:Rasgrf2
|
UTSW |
13 |
92,167,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R3954:Rasgrf2
|
UTSW |
13 |
92,130,974 (GRCm39) |
missense |
probably damaging |
0.98 |
R3955:Rasgrf2
|
UTSW |
13 |
92,130,974 (GRCm39) |
missense |
probably damaging |
0.98 |
R3956:Rasgrf2
|
UTSW |
13 |
92,130,974 (GRCm39) |
missense |
probably damaging |
0.98 |
R4133:Rasgrf2
|
UTSW |
13 |
92,130,773 (GRCm39) |
missense |
possibly damaging |
0.59 |
R4177:Rasgrf2
|
UTSW |
13 |
92,038,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R4178:Rasgrf2
|
UTSW |
13 |
92,038,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R4357:Rasgrf2
|
UTSW |
13 |
92,038,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R4358:Rasgrf2
|
UTSW |
13 |
92,038,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R4359:Rasgrf2
|
UTSW |
13 |
92,038,796 (GRCm39) |
missense |
probably damaging |
1.00 |
R4439:Rasgrf2
|
UTSW |
13 |
92,131,797 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4440:Rasgrf2
|
UTSW |
13 |
92,131,797 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4441:Rasgrf2
|
UTSW |
13 |
92,131,797 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4564:Rasgrf2
|
UTSW |
13 |
92,033,773 (GRCm39) |
nonsense |
probably null |
|
R4576:Rasgrf2
|
UTSW |
13 |
92,044,529 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4590:Rasgrf2
|
UTSW |
13 |
92,174,789 (GRCm39) |
missense |
probably damaging |
1.00 |
R4718:Rasgrf2
|
UTSW |
13 |
92,138,716 (GRCm39) |
critical splice donor site |
probably null |
|
R4778:Rasgrf2
|
UTSW |
13 |
92,131,780 (GRCm39) |
missense |
probably damaging |
0.99 |
R4790:Rasgrf2
|
UTSW |
13 |
92,136,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R4808:Rasgrf2
|
UTSW |
13 |
92,160,190 (GRCm39) |
missense |
probably damaging |
1.00 |
R5151:Rasgrf2
|
UTSW |
13 |
92,044,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R5286:Rasgrf2
|
UTSW |
13 |
92,267,941 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5902:Rasgrf2
|
UTSW |
13 |
92,068,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R6180:Rasgrf2
|
UTSW |
13 |
92,165,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R6264:Rasgrf2
|
UTSW |
13 |
92,167,293 (GRCm39) |
missense |
probably damaging |
1.00 |
R6369:Rasgrf2
|
UTSW |
13 |
92,267,954 (GRCm39) |
missense |
probably benign |
|
R6428:Rasgrf2
|
UTSW |
13 |
92,136,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R6595:Rasgrf2
|
UTSW |
13 |
92,167,361 (GRCm39) |
missense |
probably damaging |
1.00 |
R6619:Rasgrf2
|
UTSW |
13 |
92,165,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R6988:Rasgrf2
|
UTSW |
13 |
92,033,754 (GRCm39) |
missense |
probably benign |
0.02 |
R7026:Rasgrf2
|
UTSW |
13 |
92,131,732 (GRCm39) |
missense |
probably damaging |
1.00 |
R7038:Rasgrf2
|
UTSW |
13 |
92,130,952 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7045:Rasgrf2
|
UTSW |
13 |
92,159,100 (GRCm39) |
intron |
probably benign |
|
R7056:Rasgrf2
|
UTSW |
13 |
92,167,203 (GRCm39) |
missense |
probably damaging |
0.99 |
R7058:Rasgrf2
|
UTSW |
13 |
92,034,521 (GRCm39) |
missense |
probably damaging |
0.99 |
R7256:Rasgrf2
|
UTSW |
13 |
92,032,637 (GRCm39) |
nonsense |
probably null |
|
R7392:Rasgrf2
|
UTSW |
13 |
92,041,856 (GRCm39) |
missense |
|
|
R7469:Rasgrf2
|
UTSW |
13 |
92,165,530 (GRCm39) |
critical splice donor site |
probably null |
|
R7618:Rasgrf2
|
UTSW |
13 |
92,136,085 (GRCm39) |
missense |
|
|
R7641:Rasgrf2
|
UTSW |
13 |
92,267,914 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7674:Rasgrf2
|
UTSW |
13 |
92,267,914 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7784:Rasgrf2
|
UTSW |
13 |
92,044,201 (GRCm39) |
missense |
|
|
R7962:Rasgrf2
|
UTSW |
13 |
92,167,300 (GRCm39) |
missense |
probably damaging |
0.99 |
R8056:Rasgrf2
|
UTSW |
13 |
92,167,321 (GRCm39) |
missense |
probably damaging |
0.97 |
R8218:Rasgrf2
|
UTSW |
13 |
92,130,796 (GRCm39) |
missense |
|
|
R8796:Rasgrf2
|
UTSW |
13 |
92,038,685 (GRCm39) |
missense |
|
|
R8913:Rasgrf2
|
UTSW |
13 |
92,159,034 (GRCm39) |
missense |
probably benign |
0.05 |
R8971:Rasgrf2
|
UTSW |
13 |
92,158,225 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9020:Rasgrf2
|
UTSW |
13 |
92,165,146 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9487:Rasgrf2
|
UTSW |
13 |
92,267,759 (GRCm39) |
missense |
probably benign |
|
R9562:Rasgrf2
|
UTSW |
13 |
92,034,469 (GRCm39) |
critical splice donor site |
probably null |
|
R9712:Rasgrf2
|
UTSW |
13 |
92,136,092 (GRCm39) |
missense |
|
|
R9766:Rasgrf2
|
UTSW |
13 |
92,160,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R9800:Rasgrf2
|
UTSW |
13 |
92,267,860 (GRCm39) |
missense |
probably damaging |
0.99 |
X0013:Rasgrf2
|
UTSW |
13 |
92,167,363 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Rasgrf2
|
UTSW |
13 |
92,050,654 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Rasgrf2
|
UTSW |
13 |
92,159,081 (GRCm39) |
missense |
unknown |
|
Z1177:Rasgrf2
|
UTSW |
13 |
92,131,632 (GRCm39) |
missense |
|
|
|
Predicted Primers |
PCR Primer
(F):5'- AGATGCTCCAGGGCAGTTTCTGAG -3'
(R):5'- TCCATGATGACACTGTGGCAAAGC -3'
Sequencing Primer
(F):5'- AGCTCCAGTCAGACTATCTGC -3'
(R):5'- TGAGTTCCATAACGGGAGTCC -3'
|
Posted On |
2013-07-11 |