Incidental Mutation 'R6369:Rasgrf2'
| ID |
512865 |
| 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 |
044519-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.261)
|
| Stock # |
R6369 (G1)
|
| Quality Score |
84.0076 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
91880400-92131656 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92131446 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 17
(M17V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
[ENSMUST00000146492]
[ENSMUST00000216219]
|
| AlphaFold |
P70392 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099326
AA Change: M17V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: M17V
| 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 benign
Transcript: ENSMUST00000146492
AA Change: M17V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000116203
Gene: ENSMUSG00000021708
AA Change: M17V
| 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 |
probably benign
Transcript: ENSMUST00000216219
AA Change: M17V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (54/55) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
C |
T |
17: 13,835,343 (GRCm38) |
R571* |
probably null |
Het |
| Asb18 |
A |
T |
1: 90,014,471 (GRCm38) |
I36N |
probably damaging |
Het |
| Ascc3 |
G |
A |
10: 50,699,985 (GRCm38) |
G779S |
probably damaging |
Het |
| Atl2 |
T |
C |
17: 79,854,555 (GRCm38) |
Q205R |
probably damaging |
Het |
| Axdnd1 |
A |
G |
1: 156,392,745 (GRCm38) |
I235T |
probably damaging |
Het |
| Bri3bp |
A |
G |
5: 125,454,701 (GRCm38) |
N237S |
probably damaging |
Het |
| Ccdc191 |
A |
G |
16: 43,915,485 (GRCm38) |
N256S |
probably benign |
Het |
| Cchcr1 |
T |
C |
17: 35,528,176 (GRCm38) |
I474T |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 3,944,984 (GRCm38) |
Y60C |
probably damaging |
Het |
| Cd300c |
C |
A |
11: 114,957,555 (GRCm38) |
D171Y |
probably damaging |
Het |
| Crb1 |
C |
T |
1: 139,237,462 (GRCm38) |
V975M |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 17,535,004 (GRCm38) |
|
probably benign |
Het |
| Ctnna2 |
A |
G |
6: 76,980,695 (GRCm38) |
S524P |
possibly damaging |
Het |
| Eno1 |
T |
C |
4: 150,239,568 (GRCm38) |
|
probably null |
Het |
| Ero1a |
T |
C |
14: 45,299,958 (GRCm38) |
I170M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,947,331 (GRCm38) |
M344T |
unknown |
Het |
| Frem1 |
A |
T |
4: 82,913,792 (GRCm38) |
|
probably null |
Het |
| Gjb5 |
G |
T |
4: 127,355,930 (GRCm38) |
D140E |
possibly damaging |
Het |
| Gm11595 |
G |
A |
11: 99,772,555 (GRCm38) |
R100C |
unknown |
Het |
| Hk2 |
G |
T |
6: 82,736,753 (GRCm38) |
S449R |
probably damaging |
Het |
| Hs3st3a1 |
A |
T |
11: 64,520,601 (GRCm38) |
I322F |
probably benign |
Het |
| Itga1 |
T |
C |
13: 114,965,660 (GRCm38) |
I1145V |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,484,694 (GRCm38) |
L1295S |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,410,562 (GRCm38) |
D49G |
possibly damaging |
Het |
| Mef2b |
T |
A |
8: 70,165,559 (GRCm38) |
D96E |
probably benign |
Het |
| Megf10 |
A |
T |
18: 57,261,187 (GRCm38) |
D461V |
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,101,076 (GRCm38) |
S1104P |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,490,222 (GRCm38) |
L172P |
probably damaging |
Het |
| Or2g1 |
T |
G |
17: 37,795,496 (GRCm38) |
D17E |
probably benign |
Het |
| Pate1 |
A |
G |
9: 35,687,028 (GRCm38) |
V18A |
probably benign |
Het |
| Pink1 |
T |
C |
4: 138,320,734 (GRCm38) |
|
probably null |
Het |
| Pnpla1 |
T |
A |
17: 28,878,481 (GRCm38) |
I207N |
probably damaging |
Het |
| Ppp1r12b |
T |
C |
1: 134,886,542 (GRCm38) |
E341G |
possibly damaging |
Het |
| Ppp1r21 |
C |
A |
17: 88,582,412 (GRCm38) |
|
probably null |
Het |
| Rad52 |
A |
G |
6: 119,914,207 (GRCm38) |
E76G |
unknown |
Het |
| Rad54l |
A |
G |
4: 116,111,189 (GRCm38) |
|
probably null |
Het |
| Rbm42 |
A |
G |
7: 30,641,313 (GRCm38) |
M411T |
unknown |
Het |
| Reln |
A |
G |
5: 22,051,361 (GRCm38) |
I495T |
probably benign |
Het |
| Rnf224 |
A |
G |
2: 25,235,942 (GRCm38) |
F133S |
probably damaging |
Het |
| Rrm1 |
C |
A |
7: 102,446,702 (GRCm38) |
H87Q |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,103,962 (GRCm38) |
D235G |
possibly damaging |
Het |
| Serpinb3d |
G |
T |
1: 107,080,753 (GRCm38) |
N127K |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,980,293 (GRCm38) |
E89D |
probably benign |
Het |
| Slc22a5 |
T |
G |
11: 53,891,370 (GRCm38) |
N57T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,594,984 (GRCm38) |
F263I |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 52,868,604 (GRCm38) |
I66V |
probably damaging |
Het |
| Syngr1 |
A |
C |
15: 80,115,590 (GRCm38) |
|
probably benign |
Het |
| Tbc1d2 |
A |
G |
4: 46,614,420 (GRCm38) |
Y554H |
probably benign |
Het |
| Tmem198 |
T |
C |
1: 75,479,743 (GRCm38) |
V44A |
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,512,285 (GRCm38) |
|
probably null |
Het |
| Uox |
C |
T |
3: 146,624,577 (GRCm38) |
R163* |
probably null |
Het |
| Vmn2r111 |
C |
T |
17: 22,548,602 (GRCm38) |
C638Y |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,574,444 (GRCm38) |
Y632C |
probably damaging |
Het |
| Zfp212 |
T |
C |
6: 47,930,897 (GRCm38) |
V270A |
probably benign |
Het |
| Zfp92 |
G |
A |
X: 73,421,968 (GRCm38) |
R189H |
possibly damaging |
Homo |
|
| Other mutations in Rasgrf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01308:Rasgrf2
|
APN |
13 |
92,022,917 (GRCm38) |
splice site |
probably benign |
|
|
IGL01358:Rasgrf2
|
APN |
13 |
91,982,630 (GRCm38) |
missense |
probably benign |
0.23 |
|
IGL01666:Rasgrf2
|
APN |
13 |
92,038,210 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01930:Rasgrf2
|
APN |
13 |
91,982,738 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02230:Rasgrf2
|
APN |
13 |
91,988,026 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02630:Rasgrf2
|
APN |
13 |
92,131,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02690:Rasgrf2
|
APN |
13 |
92,030,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02943:Rasgrf2
|
APN |
13 |
91,983,633 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03067:Rasgrf2
|
APN |
13 |
92,022,905 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03342:Rasgrf2
|
APN |
13 |
91,987,979 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03405:Rasgrf2
|
APN |
13 |
91,896,051 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0620:Rasgrf2
|
UTSW |
13 |
91,919,817 (GRCm38) |
splice site |
probably benign |
|
|
R0632:Rasgrf2
|
UTSW |
13 |
91,972,274 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0894:Rasgrf2
|
UTSW |
13 |
91,982,771 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1354:Rasgrf2
|
UTSW |
13 |
92,028,666 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1400:Rasgrf2
|
UTSW |
13 |
91,887,689 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1437:Rasgrf2
|
UTSW |
13 |
92,030,888 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1443:Rasgrf2
|
UTSW |
13 |
91,983,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1522:Rasgrf2
|
UTSW |
13 |
91,896,086 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1553:Rasgrf2
|
UTSW |
13 |
91,890,664 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1613:Rasgrf2
|
UTSW |
13 |
91,902,621 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1883:Rasgrf2
|
UTSW |
13 |
91,969,030 (GRCm38) |
missense |
probably benign |
|
|
R1934:Rasgrf2
|
UTSW |
13 |
91,983,706 (GRCm38) |
splice site |
probably null |
|
|
R1990:Rasgrf2
|
UTSW |
13 |
92,035,965 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2037:Rasgrf2
|
UTSW |
13 |
91,902,629 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2043:Rasgrf2
|
UTSW |
13 |
92,030,843 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R2135:Rasgrf2
|
UTSW |
13 |
91,972,255 (GRCm38) |
missense |
probably benign |
|
|
R2193:Rasgrf2
|
UTSW |
13 |
92,023,713 (GRCm38) |
splice site |
probably null |
|
|
R2406:Rasgrf2
|
UTSW |
13 |
91,972,240 (GRCm38) |
missense |
probably benign |
|
|
R3055:Rasgrf2
|
UTSW |
13 |
92,029,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3916:Rasgrf2
|
UTSW |
13 |
92,030,788 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3954:Rasgrf2
|
UTSW |
13 |
91,982,855 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3955:Rasgrf2
|
UTSW |
13 |
91,982,855 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3956:Rasgrf2
|
UTSW |
13 |
91,982,855 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4133:Rasgrf2
|
UTSW |
13 |
91,982,654 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R4177:Rasgrf2
|
UTSW |
13 |
91,890,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4178:Rasgrf2
|
UTSW |
13 |
91,890,598 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4357:Rasgrf2
|
UTSW |
13 |
91,890,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4358:Rasgrf2
|
UTSW |
13 |
91,890,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4359:Rasgrf2
|
UTSW |
13 |
91,890,677 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4439:Rasgrf2
|
UTSW |
13 |
91,983,678 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4440:Rasgrf2
|
UTSW |
13 |
91,983,678 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4441:Rasgrf2
|
UTSW |
13 |
91,983,678 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4564:Rasgrf2
|
UTSW |
13 |
91,885,654 (GRCm38) |
nonsense |
probably null |
|
|
R4576:Rasgrf2
|
UTSW |
13 |
91,896,410 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R4590:Rasgrf2
|
UTSW |
13 |
92,038,281 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4718:Rasgrf2
|
UTSW |
13 |
91,990,830 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4778:Rasgrf2
|
UTSW |
13 |
91,983,661 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4790:Rasgrf2
|
UTSW |
13 |
91,988,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4808:Rasgrf2
|
UTSW |
13 |
92,023,682 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5151:Rasgrf2
|
UTSW |
13 |
91,896,036 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5286:Rasgrf2
|
UTSW |
13 |
92,131,433 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5902:Rasgrf2
|
UTSW |
13 |
91,919,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6180:Rasgrf2
|
UTSW |
13 |
92,029,101 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6264:Rasgrf2
|
UTSW |
13 |
92,030,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6428:Rasgrf2
|
UTSW |
13 |
91,987,981 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6595:Rasgrf2
|
UTSW |
13 |
92,030,853 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6619:Rasgrf2
|
UTSW |
13 |
92,028,519 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6988:Rasgrf2
|
UTSW |
13 |
91,885,635 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7026:Rasgrf2
|
UTSW |
13 |
91,983,613 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7038:Rasgrf2
|
UTSW |
13 |
91,982,833 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7045:Rasgrf2
|
UTSW |
13 |
92,022,592 (GRCm38) |
intron |
probably benign |
|
|
R7056:Rasgrf2
|
UTSW |
13 |
92,030,695 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7058:Rasgrf2
|
UTSW |
13 |
91,886,402 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7256:Rasgrf2
|
UTSW |
13 |
91,884,518 (GRCm38) |
nonsense |
probably null |
|
|
R7392:Rasgrf2
|
UTSW |
13 |
91,893,737 (GRCm38) |
missense |
|
|
|
R7469:Rasgrf2
|
UTSW |
13 |
92,029,022 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7618:Rasgrf2
|
UTSW |
13 |
91,987,966 (GRCm38) |
missense |
|
|
|
R7641:Rasgrf2
|
UTSW |
13 |
92,131,406 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7674:Rasgrf2
|
UTSW |
13 |
92,131,406 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7784:Rasgrf2
|
UTSW |
13 |
91,896,082 (GRCm38) |
missense |
|
|
|
R7962:Rasgrf2
|
UTSW |
13 |
92,030,792 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8056:Rasgrf2
|
UTSW |
13 |
92,030,813 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8218:Rasgrf2
|
UTSW |
13 |
91,982,677 (GRCm38) |
missense |
|
|
|
R8796:Rasgrf2
|
UTSW |
13 |
91,890,566 (GRCm38) |
missense |
|
|
|
R8913:Rasgrf2
|
UTSW |
13 |
92,022,526 (GRCm38) |
missense |
probably benign |
0.05 |
|
R8971:Rasgrf2
|
UTSW |
13 |
92,021,717 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9020:Rasgrf2
|
UTSW |
13 |
92,028,638 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R9487:Rasgrf2
|
UTSW |
13 |
92,131,251 (GRCm38) |
missense |
probably benign |
|
|
R9562:Rasgrf2
|
UTSW |
13 |
91,886,350 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9712:Rasgrf2
|
UTSW |
13 |
91,987,973 (GRCm38) |
missense |
|
|
|
R9766:Rasgrf2
|
UTSW |
13 |
92,023,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9800:Rasgrf2
|
UTSW |
13 |
92,131,352 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0013:Rasgrf2
|
UTSW |
13 |
92,030,855 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0026:Rasgrf2
|
UTSW |
13 |
91,902,535 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Rasgrf2
|
UTSW |
13 |
92,022,573 (GRCm38) |
missense |
unknown |
|
|
Z1177:Rasgrf2
|
UTSW |
13 |
91,983,513 (GRCm38) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTACCTGCTTGTCCAAAG -3'
(R):5'- TACTTCGGGTGGAGTGACAC -3'
Sequencing Primer
(F):5'- TTGTCCAAAGCGTCCCG -3'
(R):5'- ATAGGCGCCCTAGGTCTG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation