Incidental Mutation 'R2135:Rasgrf2'
ID |
235745 |
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 |
040138-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R2135 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 92120374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 793
(A793V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
|
AlphaFold |
P70392 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099326
AA Change: A793V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000096930 Gene: ENSMUSG00000021708 AA Change: A793V
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: ENSMUST00000142378
AA Change: A193V
|
SMART Domains |
Protein: ENSMUSP00000115401 Gene: ENSMUSG00000021708 AA Change: A193V
Domain | Start | End | E-Value | Type |
RasGEFN
|
33 |
175 |
9.35e-15 |
SMART |
Blast:RasGEFN
|
187 |
249 |
8e-29 |
BLAST |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151408
AA Change: A192V
|
SMART Domains |
Protein: ENSMUSP00000116892 Gene: ENSMUSG00000021708 AA Change: A192V
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 |
0.0600 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
100% (70/70) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
T |
5: 109,885,509 (GRCm39) |
H116Q |
probably benign |
Het |
Adamts16 |
C |
A |
13: 70,949,126 (GRCm39) |
L178F |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,672,676 (GRCm39) |
|
probably null |
Het |
Akap9 |
A |
G |
5: 4,114,509 (GRCm39) |
T46A |
probably damaging |
Het |
Ankrd2 |
T |
C |
19: 42,032,498 (GRCm39) |
L253P |
probably damaging |
Het |
Arap3 |
T |
C |
18: 38,107,509 (GRCm39) |
D1336G |
probably damaging |
Het |
Cacna2d2 |
C |
A |
9: 107,403,712 (GRCm39) |
L992I |
possibly damaging |
Het |
Cdhr2 |
T |
A |
13: 54,868,760 (GRCm39) |
I574N |
probably damaging |
Het |
Cecr2 |
C |
T |
6: 120,697,923 (GRCm39) |
T74M |
probably damaging |
Het |
Ces5a |
C |
A |
8: 94,226,369 (GRCm39) |
E481D |
probably benign |
Het |
Cfap74 |
C |
G |
4: 155,514,397 (GRCm39) |
N544K |
probably damaging |
Het |
Cfap74 |
T |
A |
4: 155,514,408 (GRCm39) |
L548Q |
probably damaging |
Het |
Cfb |
C |
T |
17: 35,076,254 (GRCm39) |
V1145I |
possibly damaging |
Het |
CK137956 |
A |
G |
4: 127,845,433 (GRCm39) |
|
probably benign |
Het |
Commd10 |
T |
A |
18: 47,123,604 (GRCm39) |
L153Q |
possibly damaging |
Het |
Cox6c |
T |
C |
15: 35,937,429 (GRCm39) |
|
probably benign |
Het |
Dock4 |
A |
G |
12: 40,795,667 (GRCm39) |
Y828C |
probably benign |
Het |
Ermp1 |
T |
C |
19: 29,623,465 (GRCm39) |
D119G |
possibly damaging |
Het |
Ext1 |
G |
T |
15: 52,965,140 (GRCm39) |
Q409K |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 39,034,882 (GRCm39) |
I2845F |
probably damaging |
Het |
Frmd6 |
A |
G |
12: 70,941,771 (GRCm39) |
N494S |
probably benign |
Het |
Fscn3 |
A |
G |
6: 28,431,583 (GRCm39) |
T305A |
probably benign |
Het |
Gbx1 |
G |
T |
5: 24,731,220 (GRCm39) |
R199S |
possibly damaging |
Het |
Gm11437 |
T |
C |
11: 84,044,638 (GRCm39) |
R192G |
probably damaging |
Het |
Gucy2c |
T |
A |
6: 136,700,726 (GRCm39) |
D572V |
probably damaging |
Het |
Idh1 |
A |
C |
1: 65,201,078 (GRCm39) |
M291R |
probably damaging |
Het |
Kcnt2 |
A |
G |
1: 140,356,551 (GRCm39) |
Y330C |
probably damaging |
Het |
Kdm4a |
A |
G |
4: 117,999,656 (GRCm39) |
L922P |
probably damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,566,215 (GRCm39) |
D346G |
possibly damaging |
Het |
Lsm14a |
A |
G |
7: 34,070,609 (GRCm39) |
S96P |
probably damaging |
Het |
Ltn1 |
A |
G |
16: 87,179,601 (GRCm39) |
L1520P |
probably damaging |
Het |
Marchf6 |
A |
T |
15: 31,509,910 (GRCm39) |
C26* |
probably null |
Het |
Msra |
G |
A |
14: 64,360,657 (GRCm39) |
P228L |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,446,329 (GRCm39) |
Y1800C |
probably damaging |
Het |
Mycbp2 |
A |
T |
14: 103,383,378 (GRCm39) |
D395E |
probably benign |
Het |
Ncr1 |
C |
A |
7: 4,343,756 (GRCm39) |
|
probably benign |
Het |
Nkd1 |
T |
C |
8: 89,318,278 (GRCm39) |
I201T |
probably benign |
Het |
Nsrp1 |
A |
T |
11: 76,945,834 (GRCm39) |
|
probably benign |
Het |
Or2t48 |
A |
C |
11: 58,420,611 (GRCm39) |
I67S |
probably damaging |
Het |
Or7e177 |
T |
A |
9: 20,211,593 (GRCm39) |
D32E |
probably benign |
Het |
Pate5 |
A |
C |
9: 35,750,479 (GRCm39) |
|
probably null |
Het |
Pkdrej |
T |
C |
15: 85,700,707 (GRCm39) |
Y1743C |
probably damaging |
Het |
Plekha5 |
T |
A |
6: 140,526,225 (GRCm39) |
H281Q |
possibly damaging |
Het |
Ppp2r3d |
A |
C |
9: 101,088,757 (GRCm39) |
M522R |
probably damaging |
Het |
Prdm12 |
T |
C |
2: 31,530,325 (GRCm39) |
F72S |
possibly damaging |
Het |
Prima1 |
A |
T |
12: 103,168,949 (GRCm39) |
F106L |
probably damaging |
Het |
Ptchd4 |
A |
G |
17: 42,627,965 (GRCm39) |
H142R |
probably benign |
Het |
Rbsn |
T |
A |
6: 92,166,854 (GRCm39) |
M597L |
probably benign |
Het |
Ripk4 |
A |
T |
16: 97,544,933 (GRCm39) |
D571E |
probably damaging |
Het |
Rp9 |
T |
C |
9: 22,379,425 (GRCm39) |
K25E |
possibly damaging |
Het |
Sec31b |
T |
C |
19: 44,523,135 (GRCm39) |
S211G |
probably damaging |
Het |
Shank2 |
C |
T |
7: 143,964,971 (GRCm39) |
P1070S |
probably damaging |
Het |
Sla |
A |
G |
15: 66,654,563 (GRCm39) |
V241A |
probably benign |
Het |
Slc25a40 |
A |
G |
5: 8,477,489 (GRCm39) |
T25A |
possibly damaging |
Het |
Slc3a2 |
A |
G |
19: 8,685,608 (GRCm39) |
S164P |
probably benign |
Het |
Slc7a5 |
A |
T |
8: 122,610,444 (GRCm39) |
W457R |
probably null |
Het |
Slco6c1 |
A |
G |
1: 97,032,542 (GRCm39) |
M303T |
probably benign |
Het |
Smim10l1 |
T |
C |
6: 133,082,489 (GRCm39) |
F12S |
probably damaging |
Het |
Syne2 |
A |
G |
12: 75,999,560 (GRCm39) |
I2318V |
probably damaging |
Het |
Tecta |
A |
C |
9: 42,251,581 (GRCm39) |
C1781G |
probably damaging |
Het |
Timmdc1 |
A |
T |
16: 38,319,313 (GRCm39) |
H280Q |
probably benign |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Tmem30b |
A |
G |
12: 73,592,107 (GRCm39) |
L336P |
probably damaging |
Het |
Tmem94 |
A |
G |
11: 115,685,575 (GRCm39) |
I943V |
probably benign |
Het |
Tshb |
A |
G |
3: 102,685,464 (GRCm39) |
|
probably null |
Het |
Vcpip1 |
A |
G |
1: 9,818,035 (GRCm39) |
V116A |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,880,219 (GRCm39) |
Y156H |
probably benign |
Het |
Zcrb1 |
T |
C |
15: 93,295,067 (GRCm39) |
N23S |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,292,826 (GRCm39) |
R2108G |
possibly 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 |
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'- GCCTAGAATGGATTTGGAGACTAGG -3'
(R):5'- CTGTGGAGAAGAATGGCTTGAC -3'
Sequencing Primer
(F):5'- AGAATGGATTTGGAGACTAGGTTGTG -3'
(R):5'- TGGAGAAGAATGGCTTGACTTTATAG -3'
|
Posted On |
2014-10-01 |