Incidental Mutation 'R7056:Rasgrf2'
ID |
547944 |
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 |
045153-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R7056 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 92167203 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 290
(S290N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000149731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
[ENSMUST00000146492]
[ENSMUST00000216219]
|
AlphaFold |
P70392 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099326
AA Change: S290N
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000096930 Gene: ENSMUSG00000021708 AA Change: S290N
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 |
possibly damaging
Transcript: ENSMUST00000146492
AA Change: S290N
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000116203 Gene: ENSMUSG00000021708 AA Change: S290N
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: S70N
Domain | Start | End | E-Value | Type |
Pfam:RhoGEF
|
28 |
168 |
4.3e-26 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216219
AA Change: S290N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (62/62) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atr |
T |
A |
9: 95,744,916 (GRCm39) |
S78T |
probably damaging |
Het |
B2m |
T |
C |
2: 121,981,465 (GRCm39) |
L60P |
probably damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Cep350 |
A |
C |
1: 155,724,373 (GRCm39) |
I3075S |
probably damaging |
Het |
Cep97 |
A |
G |
16: 55,725,935 (GRCm39) |
S651P |
probably damaging |
Het |
Chrna5 |
C |
T |
9: 54,888,985 (GRCm39) |
|
probably benign |
Het |
Cog5 |
T |
C |
12: 31,715,468 (GRCm39) |
V80A |
possibly damaging |
Het |
Col9a2 |
G |
A |
4: 120,906,913 (GRCm39) |
|
probably null |
Het |
Cop1 |
C |
T |
1: 159,077,647 (GRCm39) |
L161F |
probably damaging |
Het |
Cyp4f17 |
A |
T |
17: 32,746,846 (GRCm39) |
M383L |
possibly damaging |
Het |
Dennd4a |
A |
G |
9: 64,814,205 (GRCm39) |
D1474G |
possibly damaging |
Het |
Dgkb |
A |
C |
12: 38,150,492 (GRCm39) |
S100R |
probably benign |
Het |
Dnah17 |
A |
G |
11: 118,016,212 (GRCm39) |
V309A |
probably benign |
Het |
Dner |
C |
A |
1: 84,558,457 (GRCm39) |
R169L |
possibly damaging |
Het |
Dus1l |
T |
C |
11: 120,682,120 (GRCm39) |
E362G |
probably benign |
Het |
Eed |
A |
T |
7: 89,619,564 (GRCm39) |
S168T |
possibly damaging |
Het |
Eif3a |
T |
A |
19: 60,751,500 (GRCm39) |
|
probably null |
Het |
Fam234b |
A |
G |
6: 135,205,450 (GRCm39) |
S472G |
probably benign |
Het |
Fbn2 |
T |
A |
18: 58,209,798 (GRCm39) |
T1028S |
probably benign |
Het |
Fbxw16 |
A |
G |
9: 109,265,352 (GRCm39) |
V393A |
possibly damaging |
Het |
Fig4 |
A |
T |
10: 41,096,928 (GRCm39) |
L838Q |
probably benign |
Het |
Gm13941 |
T |
G |
2: 110,927,147 (GRCm39) |
S137R |
unknown |
Het |
Gm9938 |
T |
G |
19: 23,701,981 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
T |
G |
3: 59,238,501 (GRCm39) |
D560A |
probably damaging |
Het |
Lrrk2 |
T |
A |
15: 91,659,198 (GRCm39) |
L1870* |
probably null |
Het |
Mep1b |
T |
A |
18: 21,224,247 (GRCm39) |
Y347N |
probably damaging |
Het |
Mepce |
T |
C |
5: 137,780,968 (GRCm39) |
N613D |
probably damaging |
Het |
Mgat3 |
T |
G |
15: 80,096,097 (GRCm39) |
L308R |
probably damaging |
Het |
Morc2a |
A |
G |
11: 3,625,925 (GRCm39) |
Y175C |
probably damaging |
Het |
Necab2 |
A |
G |
8: 120,178,878 (GRCm39) |
N98S |
probably benign |
Het |
Net1 |
T |
C |
13: 3,934,845 (GRCm39) |
M394V |
probably benign |
Het |
Nfat5 |
G |
A |
8: 108,094,738 (GRCm39) |
G993D |
probably damaging |
Het |
Obscn |
C |
A |
11: 58,887,122 (GRCm39) |
|
probably benign |
Het |
Olr1 |
T |
C |
6: 129,465,904 (GRCm39) |
H34R |
probably damaging |
Het |
Or2ab1 |
A |
G |
11: 58,489,044 (GRCm39) |
Y274C |
probably damaging |
Het |
Or4f60 |
T |
C |
2: 111,902,662 (GRCm39) |
N89D |
probably benign |
Het |
Pmm2 |
T |
A |
16: 8,460,628 (GRCm39) |
F27L |
probably damaging |
Het |
Ptpdc1 |
C |
A |
13: 48,740,466 (GRCm39) |
V261F |
possibly damaging |
Het |
Pyroxd1 |
G |
T |
6: 142,304,808 (GRCm39) |
R345L |
probably benign |
Het |
Radil |
A |
T |
5: 142,480,109 (GRCm39) |
C670* |
probably null |
Het |
Rbm33 |
T |
C |
5: 28,599,001 (GRCm39) |
|
probably benign |
Het |
Rnf111 |
A |
T |
9: 70,360,957 (GRCm39) |
S501R |
possibly damaging |
Het |
Sel1l2 |
T |
A |
2: 140,087,334 (GRCm39) |
I446F |
probably benign |
Het |
Sh3pxd2b |
T |
C |
11: 32,372,737 (GRCm39) |
S635P |
probably benign |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Smg1 |
T |
C |
7: 117,745,623 (GRCm39) |
|
probably benign |
Het |
Sorcs2 |
C |
A |
5: 36,225,474 (GRCm39) |
D132Y |
probably damaging |
Het |
Sox18 |
T |
C |
2: 181,313,280 (GRCm39) |
D12G |
probably damaging |
Het |
Srsf4 |
G |
T |
4: 131,628,004 (GRCm39) |
|
probably benign |
Het |
Susd4 |
C |
A |
1: 182,660,721 (GRCm39) |
T81N |
probably benign |
Het |
Tmem256 |
G |
T |
11: 69,729,416 (GRCm39) |
|
probably benign |
Het |
Tor4a |
T |
C |
2: 25,084,853 (GRCm39) |
H350R |
probably benign |
Het |
Ugt2a3 |
T |
A |
5: 87,484,953 (GRCm39) |
S24C |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r77 |
C |
T |
7: 86,451,023 (GRCm39) |
T303I |
probably benign |
Het |
Wdr70 |
T |
A |
15: 7,913,877 (GRCm39) |
I591F |
possibly damaging |
Het |
Wdr93 |
T |
C |
7: 79,399,088 (GRCm39) |
I74T |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,809,784 (GRCm39) |
C1087S |
probably damaging |
Het |
Zfp592 |
T |
A |
7: 80,673,067 (GRCm39) |
D10E |
probably damaging |
Het |
Zfp69 |
A |
G |
4: 120,788,295 (GRCm39) |
V340A |
probably benign |
Het |
Zswim2 |
C |
T |
2: 83,751,092 (GRCm39) |
|
probably null |
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 |
|
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'- TCAAGCAGAGGCACAAACTG -3'
(R):5'- TTGTTCTCCCCATGCAGAGAG -3'
Sequencing Primer
(F):5'- TACAAATGCAGACTGACAATGTC -3'
(R):5'- GCATGAGGAAGAGAAACCAGATTGTG -3'
|
Posted On |
2019-05-13 |