Incidental Mutation 'R9020:Rasgrf2'
| ID |
686688 |
| 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 |
068850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.191)
|
| Stock # |
R9020 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92165146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 340
(V340A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
[ENSMUST00000146492]
[ENSMUST00000216219]
|
| AlphaFold |
P70392 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099326
AA Change: V340A
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: V340A
| 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: ENSMUST00000146492
AA Change: V340A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116203
Gene: ENSMUSG00000021708
AA Change: V340A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
23 |
135 |
1.29e-16 |
SMART |
|
IQ
|
204 |
226 |
1.3e0 |
SMART |
|
Pfam:RhoGEF
|
247 |
387 |
1.2e-24 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115562
Gene: ENSMUSG00000021708
AA Change: V120A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RhoGEF
|
28 |
168 |
4.3e-26 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216219
AA Change: V340A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (58/60) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
A |
G |
4: 106,605,615 (GRCm39) |
S586P |
probably damaging |
Het |
| Adora3 |
T |
A |
3: 105,815,141 (GRCm39) |
I297N |
probably damaging |
Het |
| Adrb3 |
A |
T |
8: 27,717,947 (GRCm39) |
F167L |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,063,999 (GRCm39) |
Y3955C |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,046,135 (GRCm39) |
D963G |
probably benign |
Het |
| Btbd10 |
T |
C |
7: 112,951,057 (GRCm39) |
N11S |
possibly damaging |
Het |
| Casr |
A |
G |
16: 36,315,611 (GRCm39) |
S820P |
probably damaging |
Het |
| Ccdc82 |
C |
T |
9: 13,281,915 (GRCm39) |
R447C |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,257,522 (GRCm39) |
V1019E |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,959,552 (GRCm39) |
E866G |
probably damaging |
Het |
| Chd4 |
T |
A |
6: 125,084,469 (GRCm39) |
D713E |
probably damaging |
Het |
| Ctdsp1 |
T |
C |
1: 74,434,676 (GRCm39) |
F240S |
possibly damaging |
Het |
| Cyp26b1 |
C |
T |
6: 84,552,056 (GRCm39) |
V361I |
probably benign |
Het |
| Dmbt1 |
T |
A |
7: 130,712,787 (GRCm39) |
I1597N |
possibly damaging |
Het |
| Dnajc25 |
C |
A |
4: 59,003,470 (GRCm39) |
Y80* |
probably null |
Het |
| Fbxo17 |
A |
T |
7: 28,436,782 (GRCm39) |
N246Y |
possibly damaging |
Het |
| Filip1l |
A |
G |
16: 57,391,058 (GRCm39) |
T549A |
probably benign |
Het |
| Gm9758 |
A |
C |
5: 14,964,739 (GRCm39) |
N35K |
|
Het |
| Gtf2i |
T |
C |
5: 134,275,415 (GRCm39) |
T707A |
probably benign |
Het |
| Ifnk |
T |
C |
4: 35,152,573 (GRCm39) |
V167A |
probably damaging |
Het |
| Iqch |
T |
C |
9: 63,432,526 (GRCm39) |
M290V |
probably benign |
Het |
| Irx1 |
A |
T |
13: 72,111,548 (GRCm39) |
Y20* |
probably null |
Het |
| Jade2 |
T |
A |
11: 51,708,454 (GRCm39) |
Q572L |
probably benign |
Het |
| Kcne4 |
T |
A |
1: 78,795,425 (GRCm39) |
H24Q |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,539,463 (GRCm39) |
|
probably benign |
Het |
| Kcnt2 |
T |
A |
1: 140,512,049 (GRCm39) |
V1068E |
probably benign |
Het |
| Klk1b27 |
T |
A |
7: 43,705,118 (GRCm39) |
V95D |
probably damaging |
Het |
| Lins1 |
A |
G |
7: 66,357,961 (GRCm39) |
D32G |
probably damaging |
Het |
| Mavs |
A |
G |
2: 131,088,594 (GRCm39) |
E466G |
possibly damaging |
Het |
| Mipep |
T |
A |
14: 61,068,677 (GRCm39) |
L483* |
probably null |
Het |
| Muc16 |
G |
GAATGGCTTTCTT |
9: 18,550,015 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
C |
A |
10: 127,549,992 (GRCm39) |
Q491K |
probably benign |
Het |
| Nle1 |
C |
G |
11: 82,797,275 (GRCm39) |
E146Q |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,909,150 (GRCm39) |
Y787H |
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,481,443 (GRCm39) |
S263G |
probably benign |
Het |
| Pcdhb8 |
T |
G |
18: 37,489,837 (GRCm39) |
I505S |
probably damaging |
Het |
| Phtf1 |
C |
G |
3: 103,898,694 (GRCm39) |
S339* |
probably null |
Het |
| Pip5k1b |
T |
A |
19: 24,327,585 (GRCm39) |
I424F |
probably benign |
Het |
| Plxna4 |
T |
A |
6: 32,211,497 (GRCm39) |
T681S |
possibly damaging |
Het |
| Prdm1 |
A |
G |
10: 44,316,036 (GRCm39) |
L700P |
probably damaging |
Het |
| Prtg |
C |
T |
9: 72,799,277 (GRCm39) |
T769I |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,031,023 (GRCm39) |
E548D |
probably benign |
Het |
| Rsph10b |
G |
A |
5: 143,922,283 (GRCm39) |
R823Q |
probably benign |
Het |
| Scgb1b3 |
A |
G |
7: 31,075,276 (GRCm39) |
E42G |
probably damaging |
Het |
| Scyl2 |
T |
C |
10: 89,488,858 (GRCm39) |
N486D |
probably damaging |
Het |
| Sdr9c7 |
T |
A |
10: 127,745,659 (GRCm39) |
I257N |
possibly damaging |
Het |
| Serpinb9b |
A |
T |
13: 33,223,887 (GRCm39) |
I360F |
probably damaging |
Het |
| Slc15a5 |
T |
A |
6: 138,032,704 (GRCm39) |
I217F |
probably benign |
Het |
| Steap2 |
T |
C |
5: 5,723,480 (GRCm39) |
S467G |
probably benign |
Het |
| Sycp1 |
T |
C |
3: 102,783,653 (GRCm39) |
K607R |
probably benign |
Het |
| Tek |
C |
G |
4: 94,708,339 (GRCm39) |
P350R |
probably benign |
Het |
| Tet3 |
T |
C |
6: 83,381,418 (GRCm39) |
D250G |
probably damaging |
Het |
| Trip11 |
A |
G |
12: 101,850,770 (GRCm39) |
V1098A |
possibly damaging |
Het |
| Tsc2 |
G |
T |
17: 24,845,691 (GRCm39) |
T209K |
probably damaging |
Het |
| Ttc6 |
A |
G |
12: 57,752,366 (GRCm39) |
Y1424C |
probably damaging |
Het |
| Uchl3 |
A |
T |
14: 101,903,986 (GRCm39) |
K74N |
probably damaging |
Het |
| Usp10 |
T |
G |
8: 120,667,904 (GRCm39) |
S68R |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,650,282 (GRCm39) |
I295V |
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 |
|
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 |
|
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'- ATACACAGGACAAATAACTGATGGC -3'
(R):5'- TACCCAGTTTGTCCCCTAGG -3'
Sequencing Primer
(F):5'- CCGGGTTAGGTCCAAGGACTTAG -3'
(R):5'- TTTGTCCCCTAGGCAGGACAAC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation