Incidental Mutation 'R6988:Rasgrf2'
ID |
543104 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrf2
|
Ensembl Gene |
ENSMUSG00000021708 |
Gene Name |
RAS protein-specific guanine nucleotide-releasing factor 2 |
Synonyms |
Grf2, 6330417G04Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R6988 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 92033754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 1151
(Y1151F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
|
AlphaFold |
P70392 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000099326
AA Change: Y1151F
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000096930 Gene: ENSMUSG00000021708 AA Change: Y1151F
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: Y550F
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: 99.9%
- 10x: 99.2%
- 20x: 97.2%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013G24Rik |
T |
G |
4: 137,181,890 (GRCm39) |
L15W |
probably damaging |
Het |
4930550C14Rik |
G |
A |
9: 53,323,056 (GRCm39) |
V31I |
possibly damaging |
Het |
Aadacl4fm4 |
A |
G |
4: 144,412,895 (GRCm39) |
F15S |
probably benign |
Het |
Adgre1 |
C |
T |
17: 57,715,445 (GRCm39) |
S255F |
probably benign |
Het |
Aff4 |
T |
G |
11: 53,289,064 (GRCm39) |
S404R |
probably damaging |
Het |
Akr1c19 |
A |
T |
13: 4,283,757 (GRCm39) |
|
probably benign |
Het |
Ankrd31 |
T |
A |
13: 97,014,757 (GRCm39) |
I1342K |
probably damaging |
Het |
Arhgap5 |
T |
A |
12: 52,564,908 (GRCm39) |
D626E |
possibly damaging |
Het |
Arhgef1 |
G |
A |
7: 24,616,348 (GRCm39) |
V332I |
probably benign |
Het |
AY358078 |
A |
G |
14: 52,063,644 (GRCm39) |
E430G |
probably damaging |
Het |
B4gat1 |
T |
A |
19: 5,090,462 (GRCm39) |
I395N |
probably benign |
Het |
Bub1b |
T |
A |
2: 118,467,311 (GRCm39) |
I878N |
probably damaging |
Het |
Ccdc150 |
C |
T |
1: 54,394,868 (GRCm39) |
Q745* |
probably null |
Het |
Ccl19 |
A |
T |
4: 42,754,885 (GRCm39) |
I87N |
probably damaging |
Het |
Ces2g |
G |
C |
8: 105,690,540 (GRCm39) |
G107A |
probably benign |
Het |
Chpt1 |
A |
G |
10: 88,324,268 (GRCm39) |
V180A |
probably damaging |
Het |
Col2a1 |
T |
C |
15: 97,902,335 (GRCm39) |
T14A |
unknown |
Het |
Dnah7a |
T |
C |
1: 53,621,784 (GRCm39) |
I1114V |
possibly damaging |
Het |
Dnah7c |
T |
C |
1: 46,705,373 (GRCm39) |
I2462T |
possibly damaging |
Het |
Dnah8 |
T |
C |
17: 30,862,249 (GRCm39) |
F208S |
probably damaging |
Het |
Dnhd1 |
A |
G |
7: 105,363,417 (GRCm39) |
E3993G |
probably damaging |
Het |
Erv3 |
C |
T |
2: 131,697,886 (GRCm39) |
D158N |
possibly damaging |
Het |
Exoc6 |
T |
A |
19: 37,597,539 (GRCm39) |
F647I |
probably damaging |
Het |
Fbrs |
G |
A |
7: 127,078,680 (GRCm39) |
|
probably benign |
Het |
Fgfr1op2 |
T |
C |
6: 146,491,463 (GRCm39) |
F109L |
probably damaging |
Het |
Fv1 |
T |
C |
4: 147,953,728 (GRCm39) |
F98S |
possibly damaging |
Het |
H2-M10.1 |
T |
C |
17: 36,636,484 (GRCm39) |
K107E |
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,256,201 (GRCm39) |
Q1436L |
probably damaging |
Het |
Ighv1-74 |
T |
C |
12: 115,766,383 (GRCm39) |
Y79C |
probably damaging |
Het |
Kcnj1 |
G |
A |
9: 32,307,881 (GRCm39) |
V102I |
probably benign |
Het |
Mnt |
C |
A |
11: 74,733,635 (GRCm39) |
|
probably benign |
Het |
Mrpl15 |
T |
C |
1: 4,852,883 (GRCm39) |
T112A |
probably benign |
Het |
Ncdn |
T |
C |
4: 126,640,982 (GRCm39) |
D506G |
probably benign |
Het |
Ogdh |
C |
T |
11: 6,263,806 (GRCm39) |
R81* |
probably null |
Het |
Or6c2 |
T |
A |
10: 129,362,542 (GRCm39) |
S149T |
probably benign |
Het |
Or6c217 |
G |
C |
10: 129,738,278 (GRCm39) |
F100L |
probably damaging |
Het |
Pole |
G |
T |
5: 110,477,449 (GRCm39) |
V1863F |
probably damaging |
Het |
Pramel5 |
T |
C |
4: 144,000,577 (GRCm39) |
|
probably benign |
Het |
Rabep1 |
A |
G |
11: 70,825,363 (GRCm39) |
K636E |
probably damaging |
Het |
Rrad |
A |
G |
8: 105,357,268 (GRCm39) |
V93A |
probably damaging |
Het |
Sesn3 |
A |
T |
9: 14,221,553 (GRCm39) |
R118* |
probably null |
Het |
Slc27a3 |
T |
C |
3: 90,293,597 (GRCm39) |
N596S |
probably benign |
Het |
Snx19 |
C |
A |
9: 30,340,231 (GRCm39) |
D456E |
probably damaging |
Het |
Spata31h1 |
T |
C |
10: 82,127,733 (GRCm39) |
D1759G |
possibly damaging |
Het |
Supt20 |
T |
C |
3: 54,606,018 (GRCm39) |
S35P |
probably damaging |
Het |
Syde2 |
G |
T |
3: 145,725,564 (GRCm39) |
R885L |
probably benign |
Het |
Synm |
G |
A |
7: 67,383,406 (GRCm39) |
L1419F |
probably damaging |
Het |
Tekt2 |
A |
G |
4: 126,217,236 (GRCm39) |
F221L |
probably benign |
Het |
Ticam1 |
C |
T |
17: 56,576,900 (GRCm39) |
E732K |
probably benign |
Het |
Tmem39b |
A |
G |
4: 129,586,941 (GRCm39) |
I90T |
possibly damaging |
Het |
Trgv6 |
G |
T |
13: 19,374,814 (GRCm39) |
G40W |
possibly damaging |
Het |
Trib2 |
A |
G |
12: 15,865,339 (GRCm39) |
S79P |
probably damaging |
Het |
Usp32 |
T |
C |
11: 84,900,969 (GRCm39) |
M1084V |
probably benign |
Het |
Vmn1r181 |
T |
C |
7: 23,684,272 (GRCm39) |
F246L |
probably damaging |
Het |
Wnt16 |
A |
G |
6: 22,288,510 (GRCm39) |
D2G |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,080,716 (GRCm39) |
E1357G |
probably benign |
Het |
Zhx3 |
A |
G |
2: 160,621,788 (GRCm39) |
M793T |
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 |
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 |
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'- CATAAGGAAGAGGGTCAGTTCC -3'
(R):5'- GAAGTGATCAGGCAAGGCTC -3'
Sequencing Primer
(F):5'- TTAAAGTGGATGAGTTGACCCC -3'
(R):5'- ATCAGGCAAGGCTCCTCCTC -3'
|
Posted On |
2018-11-28 |