Incidental Mutation 'R7784:Rasgrf2'
ID |
599460 |
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 |
045840-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R7784 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92044201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 350
(T350A)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
|
AlphaFold |
P70392 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099326
AA Change: T951A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000096930 Gene: ENSMUSG00000021708 AA Change: T951A
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 |
|
SMART Domains |
Protein: ENSMUSP00000116892 Gene: ENSMUSG00000021708 AA Change: T350A
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (66/66) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001J03Rik |
A |
T |
5: 146,119,638 (GRCm39) |
|
probably null |
Het |
3425401B19Rik |
A |
T |
14: 32,381,797 (GRCm39) |
S1389R |
probably benign |
Het |
Abca9 |
A |
T |
11: 110,045,243 (GRCm39) |
C363* |
probably null |
Het |
Actbl2 |
T |
A |
13: 111,391,945 (GRCm39) |
N93K |
probably damaging |
Het |
Adamtsl3 |
T |
C |
7: 82,223,197 (GRCm39) |
Y993H |
probably damaging |
Het |
Adgrg1 |
G |
A |
8: 95,739,510 (GRCm39) |
W653* |
probably null |
Het |
Akap13 |
T |
A |
7: 75,260,076 (GRCm39) |
V97D |
probably benign |
Het |
Cacna1d |
T |
A |
14: 29,845,396 (GRCm39) |
D613V |
probably damaging |
Het |
Col10a1 |
C |
A |
10: 34,270,214 (GRCm39) |
P62H |
unknown |
Het |
Cpb2 |
A |
T |
14: 75,512,480 (GRCm39) |
N298Y |
probably damaging |
Het |
Ddc |
A |
G |
11: 11,789,396 (GRCm39) |
|
probably null |
Het |
Ddx6 |
T |
C |
9: 44,541,439 (GRCm39) |
|
probably null |
Het |
Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
Eps8 |
T |
A |
6: 137,476,585 (GRCm39) |
I605L |
probably benign |
Het |
Eps8l1 |
T |
C |
7: 4,475,121 (GRCm39) |
L304P |
probably damaging |
Het |
Erbb4 |
T |
A |
1: 68,114,658 (GRCm39) |
I929F |
probably damaging |
Het |
Erc2 |
A |
T |
14: 27,620,551 (GRCm39) |
N393I |
probably damaging |
Het |
Fbxw25 |
C |
T |
9: 109,479,187 (GRCm39) |
D355N |
|
Het |
Ffar2 |
T |
C |
7: 30,518,683 (GRCm39) |
K286E |
probably benign |
Het |
Gabrd |
A |
G |
4: 155,473,389 (GRCm39) |
|
probably null |
Het |
Ganc |
G |
A |
2: 120,267,149 (GRCm39) |
W488* |
probably null |
Het |
Ifi207 |
T |
A |
1: 173,557,698 (GRCm39) |
M347L |
unknown |
Het |
Kat6b |
A |
T |
14: 21,710,909 (GRCm39) |
I619F |
probably damaging |
Het |
Kif26a |
A |
G |
12: 112,144,581 (GRCm39) |
R1612G |
possibly damaging |
Het |
Kifc3 |
A |
G |
8: 95,837,320 (GRCm39) |
|
probably null |
Het |
Krt39 |
A |
T |
11: 99,411,857 (GRCm39) |
C76* |
probably null |
Het |
Lcmt1 |
G |
T |
7: 123,000,718 (GRCm39) |
R84L |
probably benign |
Het |
Lrit1 |
A |
G |
14: 36,783,737 (GRCm39) |
Y355C |
probably benign |
Het |
Mad2l1 |
C |
A |
6: 66,512,397 (GRCm39) |
|
probably null |
Het |
Med23 |
C |
T |
10: 24,778,346 (GRCm39) |
T870M |
probably damaging |
Het |
Mrpl2 |
A |
G |
17: 46,959,517 (GRCm39) |
|
probably null |
Het |
Mtmr6 |
A |
G |
14: 60,537,894 (GRCm39) |
D593G |
probably benign |
Het |
Myo15b |
G |
A |
11: 115,752,166 (GRCm39) |
V683M |
|
Het |
Neb |
T |
A |
2: 52,125,500 (GRCm39) |
M506L |
|
Het |
Or12d13 |
T |
C |
17: 37,647,469 (GRCm39) |
Y218C |
probably benign |
Het |
Or12d13 |
A |
G |
17: 37,647,946 (GRCm39) |
F59S |
probably damaging |
Het |
Or2a20 |
T |
A |
6: 43,194,322 (GRCm39) |
H158Q |
possibly damaging |
Het |
Or9m1 |
G |
A |
2: 87,733,537 (GRCm39) |
T161I |
probably benign |
Het |
Pdzd8 |
A |
G |
19: 59,316,295 (GRCm39) |
F294L |
probably damaging |
Het |
Rabgap1 |
G |
A |
2: 37,377,544 (GRCm39) |
S347N |
possibly damaging |
Het |
Rbp3 |
A |
T |
14: 33,676,115 (GRCm39) |
H21L |
probably benign |
Het |
Rp1 |
C |
A |
1: 4,212,881 (GRCm39) |
V1069F |
unknown |
Het |
Rtn4 |
T |
A |
11: 29,691,048 (GRCm39) |
L1113* |
probably null |
Het |
Ryr3 |
A |
G |
2: 112,606,040 (GRCm39) |
F2407L |
probably damaging |
Het |
Septin2 |
T |
A |
1: 93,425,166 (GRCm39) |
D107E |
probably damaging |
Het |
Septin4 |
A |
G |
11: 87,469,834 (GRCm39) |
T7A |
probably benign |
Het |
Slc34a3 |
T |
A |
2: 25,122,237 (GRCm39) |
I123F |
probably damaging |
Het |
Slc9a4 |
T |
C |
1: 40,639,936 (GRCm39) |
Y243H |
probably damaging |
Het |
Slco1a1 |
T |
A |
6: 141,889,114 (GRCm39) |
E66V |
probably damaging |
Het |
Slco1a7 |
C |
T |
6: 141,658,919 (GRCm39) |
|
probably null |
Het |
Sp140l2 |
T |
A |
1: 85,190,195 (GRCm39) |
|
probably null |
Het |
Spata33 |
A |
G |
8: 123,939,991 (GRCm39) |
R68G |
unknown |
Het |
Spta1 |
G |
A |
1: 174,030,017 (GRCm39) |
D928N |
probably damaging |
Het |
St8sia5 |
A |
G |
18: 77,342,246 (GRCm39) |
S319G |
probably benign |
Het |
Tmem208 |
A |
G |
8: 106,055,465 (GRCm39) |
D149G |
possibly damaging |
Het |
Trank1 |
A |
T |
9: 111,193,171 (GRCm39) |
I583F |
probably damaging |
Het |
Trio |
C |
T |
15: 27,764,080 (GRCm39) |
V2015M |
probably damaging |
Het |
Tsc22d1 |
C |
T |
14: 76,654,141 (GRCm39) |
Q207* |
probably null |
Het |
Tshr |
A |
G |
12: 91,472,079 (GRCm39) |
D143G |
probably benign |
Het |
Txlna |
C |
T |
4: 129,525,950 (GRCm39) |
R299H |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,176,789 (GRCm39) |
T1318S |
possibly damaging |
Het |
Utp14b |
A |
G |
1: 78,642,660 (GRCm39) |
K186R |
probably damaging |
Het |
Vars2 |
C |
T |
17: 35,969,050 (GRCm39) |
A884T |
possibly damaging |
Het |
Zfp354c |
TCACACTCGGCACA |
TCACA |
11: 50,706,067 (GRCm39) |
|
probably benign |
Het |
Zfp775 |
A |
G |
6: 48,596,183 (GRCm39) |
Q19R |
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 |
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 |
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'- GCTAAAACACCTTGAGATGGAGAC -3'
(R):5'- GTATGATTAGGTCCTCAGACGGC -3'
Sequencing Primer
(F):5'- TTGAGATGGAGACTCCCACC -3'
(R):5'- TCCTCAGACGGCACAGGAC -3'
|
Posted On |
2019-11-26 |