Incidental Mutation 'R1553:Rasgrf2'
ID |
170109 |
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 |
039592-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R1553 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 92038783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 1021
(R1021H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
|
AlphaFold |
P70392 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099326
AA Change: R1021H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096930 Gene: ENSMUSG00000021708 AA Change: R1021H
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: R420H
|
SMART Domains |
Protein: ENSMUSP00000116892 Gene: ENSMUSG00000021708 AA Change: R420H
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: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
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: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
G |
T |
5: 24,613,748 (GRCm39) |
A649S |
probably damaging |
Het |
Adam6a |
T |
A |
12: 113,508,835 (GRCm39) |
C403S |
probably damaging |
Het |
Adgrg3 |
T |
C |
8: 95,766,896 (GRCm39) |
F417S |
possibly damaging |
Het |
Ago1 |
T |
C |
4: 126,334,194 (GRCm39) |
E439G |
probably damaging |
Het |
Alox15 |
A |
G |
11: 70,240,458 (GRCm39) |
V241A |
possibly damaging |
Het |
Arhgap6 |
A |
G |
X: 168,048,480 (GRCm39) |
H566R |
probably damaging |
Het |
Asap1 |
A |
T |
15: 64,024,701 (GRCm39) |
F345I |
probably benign |
Het |
Atp1b2 |
A |
G |
11: 69,493,678 (GRCm39) |
Y134H |
probably damaging |
Het |
Atp8b3 |
G |
A |
10: 80,368,376 (GRCm39) |
T199M |
probably damaging |
Het |
Calb1 |
A |
T |
4: 15,895,656 (GRCm39) |
S115C |
probably damaging |
Het |
Ccdc68 |
A |
T |
18: 70,073,192 (GRCm39) |
I47F |
probably damaging |
Het |
Cdc42bpa |
A |
T |
1: 179,921,540 (GRCm39) |
N560I |
probably benign |
Het |
Cdhr3 |
T |
C |
12: 33,092,370 (GRCm39) |
D747G |
probably benign |
Het |
Cdk5rap1 |
T |
G |
2: 154,194,171 (GRCm39) |
N378T |
probably damaging |
Het |
Chil4 |
T |
G |
3: 106,111,006 (GRCm39) |
N296T |
probably benign |
Het |
Cryaa |
G |
A |
17: 31,898,533 (GRCm39) |
V87I |
probably damaging |
Het |
Csk |
G |
A |
9: 57,538,225 (GRCm39) |
L28F |
probably damaging |
Het |
Cspp1 |
A |
G |
1: 10,156,122 (GRCm39) |
N444D |
possibly damaging |
Het |
Cyp2j8 |
A |
G |
4: 96,363,794 (GRCm39) |
Y290H |
probably benign |
Het |
Eps8l1 |
A |
T |
7: 4,480,448 (GRCm39) |
D563V |
probably damaging |
Het |
Fam111a |
A |
T |
19: 12,564,682 (GRCm39) |
S144C |
possibly damaging |
Het |
Fam135a |
A |
T |
1: 24,060,951 (GRCm39) |
S1145R |
probably damaging |
Het |
Fpr2 |
T |
A |
17: 18,113,856 (GRCm39) |
V284D |
possibly damaging |
Het |
Furin |
A |
G |
7: 80,048,340 (GRCm39) |
|
probably null |
Het |
Gatd1 |
T |
C |
7: 140,989,806 (GRCm39) |
T135A |
probably benign |
Het |
Gdf3 |
A |
G |
6: 122,586,724 (GRCm39) |
S68P |
probably benign |
Het |
Gm6871 |
T |
C |
7: 41,195,822 (GRCm39) |
H305R |
probably benign |
Het |
Grip1 |
A |
G |
10: 119,890,756 (GRCm39) |
S917G |
probably damaging |
Het |
Hdac10 |
T |
A |
15: 89,009,718 (GRCm39) |
E388V |
possibly damaging |
Het |
Hectd1 |
T |
C |
12: 51,820,661 (GRCm39) |
N1176S |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,322 (GRCm39) |
D3439G |
probably benign |
Het |
Kcna4 |
T |
C |
2: 107,127,032 (GRCm39) |
Y589H |
probably benign |
Het |
Kcnk5 |
A |
T |
14: 20,192,462 (GRCm39) |
L233Q |
probably damaging |
Het |
Kcnt1 |
T |
C |
2: 25,790,397 (GRCm39) |
I453T |
probably damaging |
Het |
Kifc3 |
A |
G |
8: 95,833,170 (GRCm39) |
I440T |
possibly damaging |
Het |
Krt10 |
C |
A |
11: 99,276,806 (GRCm39) |
G40* |
probably null |
Het |
Lce1i |
A |
T |
3: 92,685,102 (GRCm39) |
C25S |
unknown |
Het |
Met |
A |
G |
6: 17,491,460 (GRCm39) |
N74S |
probably benign |
Het |
Naa35 |
G |
A |
13: 59,766,093 (GRCm39) |
|
probably null |
Het |
Naalad2 |
T |
C |
9: 18,289,965 (GRCm39) |
N221S |
probably benign |
Het |
Nolc1 |
AGCG |
AGCGGCG |
19: 46,069,814 (GRCm39) |
|
probably benign |
Het |
Nsmf |
T |
C |
2: 24,950,271 (GRCm39) |
V181A |
probably damaging |
Het |
Nwd2 |
T |
A |
5: 63,957,848 (GRCm39) |
S393T |
probably benign |
Het |
Or12j3 |
T |
A |
7: 139,952,951 (GRCm39) |
T191S |
probably damaging |
Het |
Or2d3c |
A |
T |
7: 106,526,201 (GRCm39) |
V155E |
possibly damaging |
Het |
Or51a6 |
T |
A |
7: 102,604,425 (GRCm39) |
I128L |
possibly damaging |
Het |
Papola |
T |
A |
12: 105,786,669 (GRCm39) |
S453R |
probably benign |
Het |
Paqr9 |
A |
G |
9: 95,442,262 (GRCm39) |
N84S |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,572,585 (GRCm39) |
V290A |
probably benign |
Het |
Prf1 |
T |
C |
10: 61,138,948 (GRCm39) |
V302A |
probably damaging |
Het |
Psg18 |
T |
C |
7: 18,087,406 (GRCm39) |
Y84C |
probably benign |
Het |
Rnf114 |
G |
T |
2: 167,354,522 (GRCm39) |
R201L |
possibly damaging |
Het |
Rp1l1 |
A |
G |
14: 64,269,343 (GRCm39) |
E1643G |
probably benign |
Het |
Scg3 |
T |
A |
9: 75,576,586 (GRCm39) |
E263V |
probably null |
Het |
Scn2a |
C |
T |
2: 65,544,180 (GRCm39) |
R854* |
probably null |
Het |
Setdb2 |
T |
C |
14: 59,654,934 (GRCm39) |
K319E |
probably benign |
Het |
Stub1 |
A |
T |
17: 26,051,097 (GRCm39) |
V95E |
probably damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,471 (GRCm39) |
N96Y |
probably damaging |
Het |
Tecta |
T |
A |
9: 42,259,482 (GRCm39) |
D1467V |
probably damaging |
Het |
Tenm3 |
T |
A |
8: 48,689,456 (GRCm39) |
T2044S |
probably damaging |
Het |
Tlr2 |
T |
A |
3: 83,744,770 (GRCm39) |
M438L |
probably benign |
Het |
Tmem179 |
T |
C |
12: 112,471,094 (GRCm39) |
Y106C |
probably benign |
Het |
Tspan7 |
A |
G |
X: 10,451,854 (GRCm39) |
H187R |
probably benign |
Het |
Ttn |
T |
C |
2: 76,757,619 (GRCm39) |
D3332G |
probably damaging |
Het |
Upp2 |
T |
C |
2: 58,680,152 (GRCm39) |
F326S |
probably damaging |
Het |
Usp2 |
T |
A |
9: 44,003,452 (GRCm39) |
D224E |
probably damaging |
Het |
Vmn1r5 |
T |
A |
6: 56,962,483 (GRCm39) |
F53I |
probably benign |
Het |
Wapl |
T |
A |
14: 34,451,147 (GRCm39) |
L727H |
probably damaging |
Het |
Wipf1 |
T |
C |
2: 73,267,870 (GRCm39) |
D176G |
possibly damaging |
Het |
Xpnpep1 |
G |
T |
19: 52,994,769 (GRCm39) |
D243E |
probably benign |
Het |
Zfp616 |
A |
T |
11: 73,974,744 (GRCm39) |
I429F |
possibly damaging |
Het |
Zfyve26 |
G |
A |
12: 79,334,535 (GRCm39) |
P161L |
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 |
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 |
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'- GGCAACTGCACTGCTCATTTCG -3'
(R):5'- GAGGGCTTTGTACCACTTAGCCTG -3'
Sequencing Primer
(F):5'- AGCACTATTCATCGAGGCTC -3'
(R):5'- ACTTAGCCTGCTTTTCTTGTGTG -3'
|
Posted On |
2014-04-13 |