Incidental Mutation 'R4590:Rasgrf2'
ID |
342776 |
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 # |
R4590 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92174789 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 147
(Y147H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116203
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
[ENSMUST00000146492]
[ENSMUST00000216219]
|
AlphaFold |
P70392 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000099326
AA Change: Y147H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096930 Gene: ENSMUSG00000021708 AA Change: Y147H
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: Y147H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116203 Gene: ENSMUSG00000021708 AA Change: Y147H
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 |
possibly damaging
Transcript: ENSMUST00000216219
AA Change: Y147H
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankhd1 |
T |
A |
18: 36,716,697 (GRCm39) |
D201E |
probably damaging |
Het |
Ano10 |
T |
A |
9: 122,086,231 (GRCm39) |
Q398L |
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,555,646 (GRCm39) |
L319* |
probably null |
Het |
Cacna1e |
T |
C |
1: 154,312,265 (GRCm39) |
M1575V |
possibly damaging |
Het |
Cep192 |
T |
A |
18: 67,949,862 (GRCm39) |
Y315* |
probably null |
Het |
Cndp2 |
C |
A |
18: 84,687,933 (GRCm39) |
V353F |
probably damaging |
Het |
Ctsq |
T |
A |
13: 61,184,028 (GRCm39) |
N298I |
probably benign |
Het |
Dnah6 |
A |
T |
6: 73,129,695 (GRCm39) |
C1173S |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,931,218 (GRCm39) |
M1993V |
probably damaging |
Het |
Dnhd1 |
T |
C |
7: 105,363,237 (GRCm39) |
V3933A |
probably damaging |
Het |
Dnpep |
C |
A |
1: 75,293,045 (GRCm39) |
V76L |
probably damaging |
Het |
Dsc3 |
A |
C |
18: 20,122,752 (GRCm39) |
C57W |
probably damaging |
Het |
Dtx3 |
A |
G |
10: 127,028,564 (GRCm39) |
S222P |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,803,600 (GRCm39) |
Y1009C |
possibly damaging |
Het |
Fam169a |
A |
G |
13: 97,234,093 (GRCm39) |
I122V |
probably benign |
Het |
Fgr |
T |
A |
4: 132,722,364 (GRCm39) |
V211E |
probably damaging |
Het |
Flvcr1 |
T |
C |
1: 190,744,343 (GRCm39) |
T402A |
probably benign |
Het |
Frmd5 |
C |
T |
2: 121,595,512 (GRCm39) |
|
probably null |
Het |
Fut2 |
T |
C |
7: 45,300,370 (GRCm39) |
N134S |
possibly damaging |
Het |
Gm10110 |
A |
T |
14: 90,134,982 (GRCm39) |
|
noncoding transcript |
Het |
Gm7275 |
A |
T |
16: 47,893,982 (GRCm39) |
|
noncoding transcript |
Het |
Gm904 |
T |
A |
13: 50,799,285 (GRCm39) |
C81* |
probably null |
Het |
Herc1 |
T |
A |
9: 66,344,946 (GRCm39) |
V1913E |
probably damaging |
Het |
Hnmt |
T |
C |
2: 23,909,111 (GRCm39) |
|
probably null |
Het |
Ift172 |
T |
C |
5: 31,411,299 (GRCm39) |
E1643G |
probably damaging |
Het |
Inpp4b |
T |
A |
8: 82,468,040 (GRCm39) |
M1K |
probably null |
Het |
Keap1 |
G |
T |
9: 21,148,905 (GRCm39) |
A34D |
probably damaging |
Het |
Krt25 |
T |
C |
11: 99,208,854 (GRCm39) |
|
probably benign |
Het |
Lama2 |
A |
G |
10: 26,865,410 (GRCm39) |
V2916A |
probably benign |
Het |
Ly9 |
G |
A |
1: 171,421,443 (GRCm39) |
Q603* |
probably null |
Het |
Mis18bp1 |
A |
C |
12: 65,205,280 (GRCm39) |
N14K |
possibly damaging |
Het |
Mmrn1 |
G |
T |
6: 60,937,797 (GRCm39) |
C265F |
probably damaging |
Het |
Mrgprb5 |
C |
T |
7: 47,817,809 (GRCm39) |
E309K |
probably benign |
Het |
Nrtn |
T |
C |
17: 57,058,504 (GRCm39) |
T166A |
probably damaging |
Het |
Odr4 |
A |
G |
1: 150,262,103 (GRCm39) |
|
probably null |
Het |
Or8g50 |
T |
C |
9: 39,648,146 (GRCm39) |
F12L |
probably damaging |
Het |
Osbpl7 |
T |
A |
11: 96,947,098 (GRCm39) |
S266R |
probably damaging |
Het |
Pcdhb11 |
T |
C |
18: 37,555,549 (GRCm39) |
I293T |
probably damaging |
Het |
Pes1 |
A |
G |
11: 3,927,986 (GRCm39) |
Y546C |
probably damaging |
Het |
Pth1r |
A |
T |
9: 110,551,339 (GRCm39) |
W587R |
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,865,322 (GRCm39) |
L737* |
probably null |
Het |
Rcor3 |
A |
T |
1: 191,810,217 (GRCm39) |
F153L |
probably damaging |
Het |
Rev3l |
G |
A |
10: 39,682,929 (GRCm39) |
C349Y |
probably damaging |
Het |
Rnf115 |
C |
T |
3: 96,695,889 (GRCm39) |
T225M |
probably benign |
Het |
Rnf157 |
A |
G |
11: 116,250,098 (GRCm39) |
V200A |
probably damaging |
Het |
Scfd2 |
T |
C |
5: 74,372,917 (GRCm39) |
T653A |
probably benign |
Het |
Sdccag8 |
T |
C |
1: 176,775,858 (GRCm39) |
Y590H |
probably damaging |
Het |
Sema4d |
T |
A |
13: 51,877,654 (GRCm39) |
K59N |
probably benign |
Het |
Serpinb7 |
C |
A |
1: 107,379,563 (GRCm39) |
H323Q |
probably damaging |
Het |
Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
Sgk3 |
T |
C |
1: 9,969,020 (GRCm39) |
S466P |
possibly damaging |
Het |
Sgsm2 |
T |
C |
11: 74,741,958 (GRCm39) |
M1011V |
probably damaging |
Het |
Ssc4d |
G |
A |
5: 135,993,538 (GRCm39) |
P106L |
probably benign |
Het |
Taf7 |
T |
C |
18: 37,775,784 (GRCm39) |
Q261R |
possibly damaging |
Het |
Tbc1d2b |
T |
C |
9: 90,152,553 (GRCm39) |
K71R |
possibly damaging |
Het |
Tff3 |
C |
T |
17: 31,348,508 (GRCm39) |
V15I |
probably benign |
Het |
Tgfb3 |
C |
A |
12: 86,124,589 (GRCm39) |
V40L |
possibly damaging |
Het |
Timm10 |
T |
A |
2: 84,657,992 (GRCm39) |
D2E |
possibly damaging |
Het |
Ttc16 |
T |
A |
2: 32,663,753 (GRCm39) |
N74I |
probably damaging |
Het |
Ttll1 |
G |
A |
15: 83,381,546 (GRCm39) |
T241I |
probably damaging |
Het |
Uba6 |
T |
A |
5: 86,260,603 (GRCm39) |
D992V |
probably damaging |
Het |
Vmn1r25 |
T |
A |
6: 57,955,480 (GRCm39) |
T270S |
probably benign |
Het |
Vmn2r106 |
T |
C |
17: 20,497,728 (GRCm39) |
I504V |
probably damaging |
Het |
Vmn2r87 |
G |
T |
10: 130,315,014 (GRCm39) |
H191N |
possibly damaging |
Het |
Vnn1 |
C |
A |
10: 23,775,303 (GRCm39) |
F184L |
possibly damaging |
Het |
Vtn |
A |
T |
11: 78,393,032 (GRCm39) |
I466F |
probably damaging |
Het |
Zfp352 |
A |
C |
4: 90,112,772 (GRCm39) |
D304A |
probably 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 |
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 |
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'- ATTTGTCCCTGGCAAAAGAACTC -3'
(R):5'- GAGATGCCAGCTGTTTGATG -3'
Sequencing Primer
(F):5'- TCAGCGTGAGACTAAGTCTTTC -3'
(R):5'- GTAGGTTAGTGTGCCAGGTAGAACC -3'
|
Posted On |
2015-09-24 |