Incidental Mutation 'R5902:Rasgrf2'
| ID |
456405 |
| 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 |
044100-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R5902 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 92068011 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 260
(I260K)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
|
| AlphaFold |
P70392 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099326
AA Change: I861K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: I861K
| 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 damaging
Transcript: ENSMUST00000151408
AA Change: I260K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116892
Gene: ENSMUSG00000021708
AA Change: I260K
| 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 |
0.6468 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.4%
- 20x: 92.1%
|
| Validation Efficiency |
99% (81/82) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
G |
2: 68,539,281 (GRCm39) |
M1V |
probably null |
Het |
| Abca13 |
T |
A |
11: 9,247,177 (GRCm39) |
L2308H |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,764,463 (GRCm39) |
T1161A |
probably benign |
Het |
| Acin1 |
T |
A |
14: 54,901,130 (GRCm39) |
T659S |
probably benign |
Het |
| Actl7a |
G |
T |
4: 56,743,827 (GRCm39) |
R118L |
probably damaging |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,385,414 (GRCm39) |
K569E |
probably benign |
Het |
| Anxa3 |
A |
T |
5: 96,960,712 (GRCm39) |
K39* |
probably null |
Het |
| Aoc2 |
A |
G |
11: 101,220,072 (GRCm39) |
E659G |
probably damaging |
Het |
| Atg7 |
C |
T |
6: 114,650,639 (GRCm39) |
T83M |
possibly damaging |
Het |
| AU022252 |
T |
C |
4: 119,084,101 (GRCm39) |
D104G |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,271,956 (GRCm39) |
Y231C |
possibly damaging |
Het |
| Cdh10 |
T |
G |
15: 18,985,341 (GRCm39) |
|
probably null |
Het |
| Cebpz |
A |
C |
17: 79,233,366 (GRCm39) |
M787R |
probably benign |
Het |
| Chst2 |
A |
G |
9: 95,287,662 (GRCm39) |
L228P |
probably damaging |
Het |
| Clic4 |
T |
C |
4: 134,999,869 (GRCm39) |
K11R |
probably benign |
Het |
| Col6a3 |
C |
T |
1: 90,729,921 (GRCm39) |
|
probably null |
Het |
| Commd7 |
T |
A |
2: 153,463,737 (GRCm39) |
T144S |
probably damaging |
Het |
| Ctla2a |
T |
A |
13: 61,082,834 (GRCm39) |
*138Y |
probably null |
Het |
| Dhx33 |
A |
T |
11: 70,879,957 (GRCm39) |
V351D |
probably damaging |
Het |
| Dnah9 |
G |
A |
11: 65,916,013 (GRCm39) |
T2313I |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,325,977 (GRCm39) |
D780V |
unknown |
Het |
| Dync1li1 |
A |
G |
9: 114,546,929 (GRCm39) |
|
probably null |
Het |
| E2f3 |
C |
T |
13: 30,169,250 (GRCm39) |
|
probably benign |
Het |
| Fan1 |
T |
C |
7: 64,023,070 (GRCm39) |
|
probably null |
Het |
| Gart |
A |
G |
16: 91,425,415 (GRCm39) |
S617P |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,406,979 (GRCm39) |
N705S |
possibly damaging |
Het |
| Gm4841 |
A |
T |
18: 60,403,868 (GRCm39) |
V75E |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,538,302 (GRCm39) |
E1105G |
probably benign |
Het |
| Hr |
C |
A |
14: 70,795,231 (GRCm39) |
Q288K |
probably benign |
Het |
| Hus1 |
T |
C |
11: 8,960,669 (GRCm39) |
|
probably benign |
Het |
| Ifi47 |
C |
A |
11: 48,986,213 (GRCm39) |
|
probably null |
Het |
| Irf2bp1 |
T |
C |
7: 18,738,372 (GRCm39) |
V4A |
probably benign |
Het |
| Kprp |
C |
T |
3: 92,731,835 (GRCm39) |
C405Y |
unknown |
Het |
| Lacc1 |
T |
C |
14: 77,272,239 (GRCm39) |
I186V |
possibly damaging |
Het |
| Lifr |
A |
G |
15: 7,220,231 (GRCm39) |
T954A |
probably benign |
Het |
| Lonrf2 |
T |
C |
1: 38,846,174 (GRCm39) |
M333V |
probably benign |
Het |
| Mthfd1 |
A |
T |
12: 76,337,826 (GRCm39) |
H400L |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,141,733 (GRCm39) |
K864R |
possibly damaging |
Het |
| Nup50 |
C |
T |
15: 84,819,641 (GRCm39) |
A305V |
probably benign |
Het |
| Or4a74 |
T |
A |
2: 89,439,595 (GRCm39) |
I284L |
probably damaging |
Het |
| Or4k44 |
C |
T |
2: 111,367,739 (GRCm39) |
M298I |
probably benign |
Het |
| Pax4 |
G |
T |
6: 28,447,126 (GRCm39) |
Q3K |
probably benign |
Het |
| Pced1b |
T |
G |
15: 97,282,970 (GRCm39) |
Y336* |
probably null |
Het |
| Postn |
C |
A |
3: 54,279,510 (GRCm39) |
N329K |
probably benign |
Het |
| Prickle1 |
T |
C |
15: 93,408,553 (GRCm39) |
E82G |
probably null |
Het |
| Prtn3 |
T |
C |
10: 79,718,766 (GRCm39) |
Y241H |
probably damaging |
Het |
| Sh3glb1 |
T |
C |
3: 144,418,431 (GRCm39) |
N44S |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,867,589 (GRCm39) |
|
probably null |
Het |
| Slc4a9 |
A |
G |
18: 36,662,386 (GRCm39) |
|
probably null |
Het |
| Slc4a9 |
A |
T |
18: 36,664,560 (GRCm39) |
D406V |
probably damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,715,511 (GRCm39) |
G841R |
probably damaging |
Het |
| Smn1 |
C |
T |
13: 100,263,412 (GRCm39) |
P60L |
probably benign |
Het |
| Snai1 |
G |
A |
2: 167,383,930 (GRCm39) |
C241Y |
probably damaging |
Het |
| Spock3 |
A |
G |
8: 63,808,336 (GRCm39) |
D411G |
unknown |
Het |
| Szt2 |
T |
A |
4: 118,248,700 (GRCm39) |
T607S |
probably benign |
Het |
| Tcap |
A |
T |
11: 98,274,673 (GRCm39) |
M1L |
probably benign |
Het |
| Tex29 |
A |
T |
8: 11,905,723 (GRCm39) |
|
probably benign |
Het |
| Tex29 |
C |
A |
8: 11,904,276 (GRCm39) |
|
probably benign |
Het |
| Tex29 |
C |
T |
8: 11,904,277 (GRCm39) |
|
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,269,999 (GRCm39) |
T467A |
probably benign |
Het |
| Trim34a |
C |
T |
7: 103,910,328 (GRCm39) |
Q377* |
probably null |
Het |
| Ube2q1 |
T |
A |
3: 89,683,487 (GRCm39) |
L144* |
probably null |
Het |
| Vps13c |
A |
G |
9: 67,841,729 (GRCm39) |
E1917G |
probably benign |
Het |
| Wdr19 |
T |
A |
5: 65,384,482 (GRCm39) |
N525K |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,051,807 (GRCm39) |
|
probably benign |
Het |
| Wnt5b |
T |
A |
6: 119,425,199 (GRCm39) |
H6L |
probably benign |
Het |
| Yju2 |
A |
G |
17: 56,269,077 (GRCm39) |
T62A |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,345,685 (GRCm39) |
S1355P |
possibly damaging |
Het |
| Zfp11 |
T |
A |
5: 129,734,976 (GRCm39) |
I162F |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,365,332 (GRCm39) |
T172A |
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 |
|
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 |
|
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'- GTGACAGCAATGTTGGCCAC -3'
(R):5'- AAGCAGAATTCACAGGTCTGAAAC -3'
Sequencing Primer
(F):5'- AGCTTCTAAATCCCAAGGCTTC -3'
(R):5'- GGTCTGAAACCTTTTTCCCTCC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation