Incidental Mutation 'R5151:Rasgrf2'
ID |
395392 |
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 |
042733-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R5151 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92044155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 966
(H966R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
|
AlphaFold |
P70392 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099326
AA Change: H966R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096930 Gene: ENSMUSG00000021708 AA Change: H966R
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 |
unknown
Transcript: ENSMUST00000151408
AA Change: H365R
|
SMART Domains |
Protein: ENSMUSP00000116892 Gene: ENSMUSG00000021708 AA Change: H365R
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.6%
|
Validation Efficiency |
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
T |
A |
15: 101,108,651 (GRCm39) |
C476S |
probably damaging |
Het |
Agpat2 |
A |
G |
2: 26,487,218 (GRCm39) |
M120T |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,994,933 (GRCm39) |
T5406A |
probably benign |
Het |
Ano4 |
A |
G |
10: 88,948,775 (GRCm39) |
F112L |
probably damaging |
Het |
Arhgef11 |
T |
A |
3: 87,642,667 (GRCm39) |
V1371D |
probably damaging |
Het |
Ascc3 |
A |
G |
10: 50,514,059 (GRCm39) |
N286S |
probably damaging |
Het |
Ate1 |
T |
C |
7: 130,109,394 (GRCm39) |
K202E |
possibly damaging |
Het |
Cacna1d |
T |
C |
14: 29,845,280 (GRCm39) |
T630A |
probably damaging |
Het |
Ccdc187 |
G |
T |
2: 26,183,451 (GRCm39) |
T183N |
probably damaging |
Het |
Cdk12 |
C |
T |
11: 98,140,749 (GRCm39) |
|
probably benign |
Het |
Ciita |
A |
G |
16: 10,341,594 (GRCm39) |
N978S |
probably damaging |
Het |
Cit |
A |
T |
5: 116,117,894 (GRCm39) |
Q1268L |
probably damaging |
Het |
Csf2rb |
C |
T |
15: 78,224,781 (GRCm39) |
R180W |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,918,293 (GRCm39) |
I4079V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,659,929 (GRCm39) |
V693A |
probably benign |
Het |
Dnah8 |
T |
A |
17: 30,931,269 (GRCm39) |
V1428E |
probably benign |
Het |
Dnhd1 |
C |
A |
7: 105,362,647 (GRCm39) |
Q3777K |
probably benign |
Het |
Dock9 |
A |
G |
14: 121,815,582 (GRCm39) |
Y1666H |
probably damaging |
Het |
Dpysl3 |
C |
T |
18: 43,571,145 (GRCm39) |
G43D |
probably benign |
Het |
Eftud2 |
A |
G |
11: 102,758,670 (GRCm39) |
|
probably null |
Het |
Erich4 |
T |
C |
7: 25,315,292 (GRCm39) |
|
probably benign |
Het |
Fah |
T |
A |
7: 84,250,259 (GRCm39) |
D99V |
possibly damaging |
Het |
Fat1 |
T |
C |
8: 45,404,851 (GRCm39) |
V534A |
possibly damaging |
Het |
Fgf21 |
G |
C |
7: 45,263,456 (GRCm39) |
S207R |
probably damaging |
Het |
Fras1 |
C |
T |
5: 96,792,969 (GRCm39) |
P967S |
probably damaging |
Het |
H2-T23 |
T |
C |
17: 36,343,230 (GRCm39) |
D49G |
probably damaging |
Het |
Hmcn2 |
A |
G |
2: 31,279,455 (GRCm39) |
N1819S |
probably null |
Het |
Hoxc12 |
A |
G |
15: 102,846,881 (GRCm39) |
I258V |
probably damaging |
Het |
Ighv1-22 |
T |
A |
12: 114,709,928 (GRCm39) |
T106S |
probably damaging |
Het |
Inpp5j |
T |
C |
11: 3,452,270 (GRCm39) |
T327A |
probably damaging |
Het |
Iqgap3 |
G |
T |
3: 88,025,067 (GRCm39) |
M689I |
possibly damaging |
Het |
Itga7 |
G |
A |
10: 128,780,380 (GRCm39) |
G559S |
possibly damaging |
Het |
Kcnq1 |
G |
T |
7: 142,979,749 (GRCm39) |
V632L |
probably benign |
Het |
Lsamp |
T |
C |
16: 41,954,792 (GRCm39) |
V230A |
probably damaging |
Het |
Mfn2 |
A |
T |
4: 147,970,785 (GRCm39) |
S305T |
probably benign |
Het |
Myom3 |
A |
G |
4: 135,516,883 (GRCm39) |
T818A |
probably benign |
Het |
Nacc2 |
G |
A |
2: 25,980,365 (GRCm39) |
R24C |
probably damaging |
Het |
Ntrk3 |
A |
C |
7: 77,897,048 (GRCm39) |
I663R |
probably damaging |
Het |
Nyap1 |
A |
G |
5: 137,734,376 (GRCm39) |
V219A |
probably damaging |
Het |
Obox3 |
A |
T |
7: 15,360,173 (GRCm39) |
N165K |
probably damaging |
Het |
Or13a1 |
T |
A |
6: 116,470,765 (GRCm39) |
L65* |
probably null |
Het |
Or13j1 |
A |
T |
4: 43,706,518 (GRCm39) |
F17I |
probably damaging |
Het |
Or2y12 |
A |
G |
11: 49,426,242 (GRCm39) |
T77A |
possibly damaging |
Het |
Or52e2 |
C |
A |
7: 102,804,593 (GRCm39) |
M120I |
probably damaging |
Het |
Or55b4 |
G |
A |
7: 102,134,192 (GRCm39) |
T45I |
probably benign |
Het |
Pask |
A |
T |
1: 93,262,350 (GRCm39) |
L170H |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,163,480 (GRCm39) |
I2146N |
possibly damaging |
Het |
Pitpnm2 |
A |
T |
5: 124,274,449 (GRCm39) |
M220K |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,368,705 (GRCm39) |
D841G |
probably benign |
Het |
Pla2g3 |
C |
T |
11: 3,440,827 (GRCm39) |
T264M |
probably benign |
Het |
Plcb1 |
A |
T |
2: 135,104,165 (GRCm39) |
Y278F |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,533,899 (GRCm39) |
L1579P |
probably damaging |
Het |
Rad51ap2 |
T |
A |
12: 11,507,516 (GRCm39) |
N479K |
probably benign |
Het |
Rbm27 |
A |
G |
18: 42,471,509 (GRCm39) |
D996G |
probably damaging |
Het |
Rif1 |
A |
C |
2: 52,010,321 (GRCm39) |
K2337T |
probably damaging |
Het |
Rpl13a |
G |
T |
7: 44,775,385 (GRCm39) |
N442K |
probably benign |
Het |
Serpini2 |
T |
A |
3: 75,153,820 (GRCm39) |
T380S |
possibly damaging |
Het |
Setbp1 |
A |
T |
18: 78,901,214 (GRCm39) |
W818R |
probably damaging |
Het |
Siae |
T |
A |
9: 37,542,869 (GRCm39) |
C185S |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,572,659 (GRCm39) |
V674A |
probably damaging |
Het |
Slc40a1 |
A |
T |
1: 45,950,516 (GRCm39) |
M312K |
possibly damaging |
Het |
Slc46a3 |
A |
G |
5: 147,823,566 (GRCm39) |
L92S |
probably damaging |
Het |
Son |
T |
C |
16: 91,452,587 (GRCm39) |
S445P |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,090,484 (GRCm39) |
F351L |
probably benign |
Het |
Tmed3 |
G |
A |
9: 89,581,825 (GRCm39) |
R213* |
probably null |
Het |
Tmem248 |
T |
A |
5: 130,269,238 (GRCm39) |
L277H |
probably damaging |
Het |
Unc13c |
T |
A |
9: 73,838,757 (GRCm39) |
H698L |
probably benign |
Het |
Ushbp1 |
A |
G |
8: 71,847,799 (GRCm39) |
V24A |
possibly damaging |
Het |
Usp24 |
G |
T |
4: 106,256,309 (GRCm39) |
|
probably null |
Het |
Vmn2r50 |
T |
G |
7: 9,786,970 (GRCm39) |
I46L |
probably benign |
Het |
Zfp106 |
T |
C |
2: 120,365,208 (GRCm39) |
T423A |
probably benign |
Het |
Zfp663 |
T |
A |
2: 165,195,113 (GRCm39) |
T369S |
probably benign |
Het |
Zmynd11 |
T |
C |
13: 9,740,953 (GRCm39) |
T382A |
probably damaging |
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 |
R0620:Rasgrf2
|
UTSW |
13 |
92,067,936 (GRCm39) |
splice site |
probably benign |
|
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 |
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'- GGGTCTCTAAGTCAATACACCC -3'
(R):5'- CCCGCAGCTGTTTGGAAATG -3'
Sequencing Primer
(F):5'- GTCTCTAAGTCAATACACCCAACATG -3'
(R):5'- AGCTGTTTGGAAATGTTAATATTGGC -3'
|
Posted On |
2016-06-21 |