Incidental Mutation 'R8218:Rasgrf2'
ID |
636506 |
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 |
067637-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R8218 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 92130796 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 154
(A154V)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
|
AlphaFold |
P70392 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099326
AA Change: A755V
PolyPhen 2
Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000096930 Gene: ENSMUSG00000021708 AA Change: A755V
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: ENSMUSP00000115401 Gene: ENSMUSG00000021708 AA Change: A154V
Domain | Start | End | E-Value | Type |
RasGEFN
|
33 |
175 |
9.35e-15 |
SMART |
Blast:RasGEFN
|
187 |
249 |
8e-29 |
BLAST |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000116892 Gene: ENSMUSG00000021708 AA Change: A154V
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: 99.9%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
Validation Efficiency |
99% (72/73) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5031439G07Rik |
G |
A |
15: 84,839,668 (GRCm39) |
H191Y |
probably damaging |
Het |
5730480H06Rik |
T |
A |
5: 48,536,769 (GRCm39) |
L155* |
probably null |
Het |
Ackr4 |
T |
C |
9: 103,976,410 (GRCm39) |
N179S |
probably benign |
Het |
Acp5 |
T |
C |
9: 22,040,902 (GRCm39) |
Y107C |
probably damaging |
Het |
Aff4 |
A |
T |
11: 53,289,084 (GRCm39) |
H411L |
probably damaging |
Het |
Atp5pb |
A |
G |
3: 105,866,502 (GRCm39) |
M1T |
probably null |
Het |
Atp8b5 |
G |
A |
4: 43,372,728 (GRCm39) |
|
probably null |
Het |
C1qtnf2 |
A |
G |
11: 43,381,775 (GRCm39) |
T166A |
possibly damaging |
Het |
Dctn2 |
A |
G |
10: 127,112,398 (GRCm39) |
D170G |
probably damaging |
Het |
Dennd3 |
T |
A |
15: 73,384,622 (GRCm39) |
S10T |
probably benign |
Het |
Ehbp1 |
T |
C |
11: 22,046,096 (GRCm39) |
Y551C |
possibly damaging |
Het |
Eif4g2 |
A |
T |
7: 110,673,639 (GRCm39) |
D743E |
possibly damaging |
Het |
Esr1 |
G |
A |
10: 4,696,808 (GRCm39) |
|
probably null |
Het |
Exo1 |
A |
T |
1: 175,728,480 (GRCm39) |
I515L |
probably benign |
Het |
Fam83h |
C |
T |
15: 75,874,886 (GRCm39) |
G817D |
probably damaging |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Garin1a |
T |
C |
6: 29,286,072 (GRCm39) |
I177T |
probably damaging |
Het |
Gcn1 |
G |
A |
5: 115,719,588 (GRCm39) |
S361N |
probably benign |
Het |
Gm6337 |
C |
T |
14: 6,050,613 (GRCm38) |
|
probably null |
Het |
Grk4 |
T |
A |
5: 34,826,540 (GRCm39) |
S47T |
probably benign |
Het |
Gstp2 |
C |
A |
19: 4,091,668 (GRCm39) |
M20I |
probably benign |
Het |
Harbi1 |
T |
C |
2: 91,543,237 (GRCm39) |
F233L |
probably benign |
Het |
Iqch |
C |
T |
9: 63,389,915 (GRCm39) |
V755I |
possibly damaging |
Het |
Iws1 |
T |
C |
18: 32,226,688 (GRCm39) |
F756L |
probably benign |
Het |
Kcnh6 |
T |
G |
11: 105,908,200 (GRCm39) |
V272G |
possibly damaging |
Het |
Kcnj10 |
C |
T |
1: 172,196,539 (GRCm39) |
R18C |
probably damaging |
Het |
Kmt2c |
A |
C |
5: 25,488,104 (GRCm39) |
S4670A |
probably damaging |
Het |
Krt80 |
T |
G |
15: 101,267,884 (GRCm39) |
M18L |
probably benign |
Het |
Lbx1 |
A |
G |
19: 45,223,359 (GRCm39) |
V103A |
probably benign |
Het |
Marchf8 |
A |
T |
6: 116,315,059 (GRCm39) |
|
probably benign |
Het |
Muc16 |
T |
A |
9: 18,548,315 (GRCm39) |
T5993S |
possibly damaging |
Het |
Or10ag57 |
C |
T |
2: 87,218,922 (GRCm39) |
T291I |
probably damaging |
Het |
Or1j17 |
A |
G |
2: 36,578,685 (GRCm39) |
T224A |
probably benign |
Het |
Or1o4 |
A |
G |
17: 37,590,711 (GRCm39) |
V200A |
probably benign |
Het |
Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
Pbxip1 |
A |
G |
3: 89,352,902 (GRCm39) |
I183V |
probably benign |
Het |
Pcdh20 |
T |
A |
14: 88,706,047 (GRCm39) |
I418F |
probably damaging |
Het |
Pclo |
T |
C |
5: 14,725,677 (GRCm39) |
F1512L |
unknown |
Het |
Phf2 |
G |
T |
13: 48,958,104 (GRCm39) |
T970K |
unknown |
Het |
Pidd1 |
A |
G |
7: 141,019,566 (GRCm39) |
V698A |
probably damaging |
Het |
Pik3ca |
T |
A |
3: 32,491,996 (GRCm39) |
V198D |
possibly damaging |
Het |
Pip5k1c |
T |
A |
10: 81,142,250 (GRCm39) |
D153E |
probably damaging |
Het |
Ppfia2 |
A |
G |
10: 106,699,236 (GRCm39) |
D795G |
probably benign |
Het |
Pramel12 |
A |
T |
4: 143,145,706 (GRCm39) |
I392F |
probably benign |
Het |
Prkar2a |
C |
A |
9: 108,596,448 (GRCm39) |
A131D |
possibly damaging |
Het |
Pter |
A |
G |
2: 12,985,366 (GRCm39) |
D232G |
probably damaging |
Het |
Qser1 |
C |
T |
2: 104,593,268 (GRCm39) |
R1583Q |
probably damaging |
Het |
Rasal2 |
A |
C |
1: 156,984,951 (GRCm39) |
V932G |
probably damaging |
Het |
Rbm4 |
A |
G |
19: 4,837,444 (GRCm39) |
Y347H |
probably damaging |
Het |
Rfxank |
C |
A |
8: 70,584,085 (GRCm39) |
|
probably null |
Het |
Robo1 |
C |
G |
16: 72,786,678 (GRCm39) |
R897G |
possibly damaging |
Het |
Sash1 |
G |
A |
10: 8,627,000 (GRCm39) |
T364I |
probably damaging |
Het |
Skint6 |
T |
A |
4: 112,696,471 (GRCm39) |
|
probably null |
Het |
Slc22a4 |
T |
A |
11: 53,877,407 (GRCm39) |
M495L |
probably benign |
Het |
Slc39a8 |
G |
A |
3: 135,563,325 (GRCm39) |
V212I |
probably benign |
Het |
Slc40a1 |
A |
C |
1: 45,950,129 (GRCm39) |
V441G |
probably benign |
Het |
Slc7a11 |
A |
T |
3: 50,378,501 (GRCm39) |
Y246N |
probably damaging |
Het |
Spata9 |
T |
C |
13: 76,125,892 (GRCm39) |
V125A |
probably benign |
Het |
Svopl |
T |
A |
6: 37,991,741 (GRCm39) |
M380L |
probably benign |
Het |
Sycp2l |
T |
C |
13: 41,271,544 (GRCm39) |
Y23H |
probably damaging |
Het |
Syt11 |
A |
T |
3: 88,669,427 (GRCm39) |
V155E |
probably benign |
Het |
Syt5 |
T |
C |
7: 4,545,822 (GRCm39) |
Y147C |
probably damaging |
Het |
Thg1l |
T |
C |
11: 45,846,277 (GRCm39) |
T6A |
probably benign |
Het |
Tlr2 |
A |
G |
3: 83,745,546 (GRCm39) |
L179P |
probably damaging |
Het |
Tsn |
A |
T |
1: 118,232,984 (GRCm39) |
Y107N |
probably damaging |
Het |
Tspan32 |
A |
T |
7: 142,564,832 (GRCm39) |
Y114F |
probably benign |
Het |
Tube1 |
A |
C |
10: 39,023,375 (GRCm39) |
S341R |
possibly damaging |
Het |
Ubn2 |
T |
A |
6: 38,466,214 (GRCm39) |
V516D |
probably benign |
Het |
Vmn1r21 |
G |
T |
6: 57,820,910 (GRCm39) |
T178K |
noncoding transcript |
Het |
Vmn2r108 |
A |
G |
17: 20,683,465 (GRCm39) |
Y580H |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,857,342 (GRCm39) |
F546L |
probably damaging |
Het |
Yy1 |
A |
G |
12: 108,759,619 (GRCm39) |
D94G |
probably benign |
Het |
Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
probably benign |
Het |
Zfy2 |
T |
C |
Y: 2,133,421 (GRCm39) |
T9A |
unknown |
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 |
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'- GATCTCCATGGGGCTCATCTTC -3'
(R):5'- TCGTGCGTGATATCTGAGTC -3'
Sequencing Primer
(F):5'- ATGGGGCTCATCTTCATCCTC -3'
(R):5'- ATGCTCTTCTTTCTAGGTCATTAGAG -3'
|
Posted On |
2020-07-13 |