Incidental Mutation 'R1613:Rasgrf2'
| ID |
176953 |
| 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 |
039650-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R1613 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92050740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 886
(L886P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
|
| AlphaFold |
P70392 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099326
AA Change: L886P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: L886P
| 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 |
unknown
Transcript: ENSMUST00000151408
AA Change: L285P
|
| SMART Domains |
Protein: ENSMUSP00000116892
Gene: ENSMUSG00000021708
AA Change: L285P
| 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 |
|
| Meta Mutation Damage Score |
0.0727 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| Validation Efficiency |
82% (69/84) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Aldh3a1 |
A |
T |
11: 61,105,377 (GRCm39) |
D161V |
probably damaging |
Het |
| Aloxe3 |
A |
G |
11: 69,020,872 (GRCm39) |
D199G |
possibly damaging |
Het |
| Amfr |
T |
A |
8: 94,725,854 (GRCm39) |
M176L |
probably benign |
Het |
| Amigo1 |
A |
T |
3: 108,095,536 (GRCm39) |
E345V |
probably benign |
Het |
| Atp13a3 |
T |
C |
16: 30,151,118 (GRCm39) |
Y1064C |
probably damaging |
Het |
| Brd7 |
A |
T |
8: 89,073,578 (GRCm39) |
C271S |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,470,222 (GRCm39) |
|
probably null |
Het |
| Ccdc146 |
T |
A |
5: 21,499,522 (GRCm39) |
I887F |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,547,973 (GRCm39) |
|
probably benign |
Het |
| Cntn1 |
T |
A |
15: 92,143,871 (GRCm39) |
V278E |
possibly damaging |
Het |
| Col6a6 |
A |
C |
9: 105,609,410 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
C |
T |
1: 10,203,466 (GRCm39) |
R1016C |
probably damaging |
Het |
| Cyp2c39 |
A |
G |
19: 39,527,455 (GRCm39) |
Y267C |
probably damaging |
Het |
| Cyp2c67 |
C |
T |
19: 39,614,643 (GRCm39) |
V295I |
probably benign |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,640 (GRCm39) |
T122A |
unknown |
Het |
| Dennd10 |
T |
A |
19: 60,810,763 (GRCm39) |
V171D |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,289,311 (GRCm39) |
I2541T |
probably benign |
Het |
| Eif3e |
G |
A |
15: 43,113,620 (GRCm39) |
A438V |
possibly damaging |
Het |
| Fam178b |
C |
A |
1: 36,639,273 (GRCm39) |
W342L |
probably benign |
Het |
| Fam78a |
G |
T |
2: 31,959,581 (GRCm39) |
N176K |
probably damaging |
Het |
| Ghrhr |
A |
T |
6: 55,356,682 (GRCm39) |
K93M |
probably damaging |
Het |
| Gm1527 |
T |
A |
3: 28,953,002 (GRCm39) |
|
probably null |
Het |
| Gm1553 |
G |
A |
10: 82,328,430 (GRCm39) |
|
probably benign |
Het |
| Gm5885 |
G |
A |
6: 133,508,205 (GRCm39) |
|
noncoding transcript |
Het |
| Gm8674 |
G |
A |
13: 50,056,474 (GRCm39) |
|
noncoding transcript |
Het |
| Hoxc6 |
C |
T |
15: 102,918,017 (GRCm39) |
|
probably benign |
Het |
| Ino80 |
T |
C |
2: 119,223,348 (GRCm39) |
T1189A |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,418,205 (GRCm39) |
E55G |
probably damaging |
Het |
| Kcnh2 |
G |
A |
5: 24,527,760 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,114,918 (GRCm39) |
G2356S |
probably benign |
Het |
| Mdfic |
T |
A |
6: 15,799,589 (GRCm39) |
|
probably null |
Het |
| Me3 |
T |
C |
7: 89,435,628 (GRCm39) |
|
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,170,338 (GRCm39) |
D258G |
probably damaging |
Het |
| Nfe2 |
T |
C |
15: 103,157,556 (GRCm39) |
D145G |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,519,105 (GRCm39) |
K169R |
probably damaging |
Het |
| Or10j3b |
C |
T |
1: 173,043,434 (GRCm39) |
T72I |
probably benign |
Het |
| Or1ad1 |
T |
A |
11: 50,876,045 (GRCm39) |
N172K |
probably damaging |
Het |
| Or1j20 |
A |
C |
2: 36,760,405 (GRCm39) |
I276L |
possibly damaging |
Het |
| Or2y1e |
A |
G |
11: 49,218,520 (GRCm39) |
Y94C |
probably damaging |
Het |
| Or4a67 |
T |
C |
2: 88,598,149 (GRCm39) |
N170S |
probably damaging |
Het |
| Or4k1 |
A |
C |
14: 50,377,751 (GRCm39) |
L115R |
probably damaging |
Het |
| Or5al5 |
A |
T |
2: 85,961,407 (GRCm39) |
L200Q |
probably damaging |
Het |
| P4ha3 |
A |
T |
7: 99,962,457 (GRCm39) |
D405V |
possibly damaging |
Het |
| Palmd |
T |
C |
3: 116,717,153 (GRCm39) |
D448G |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,729,146 (GRCm39) |
|
probably benign |
Het |
| Pcsk6 |
A |
G |
7: 65,560,059 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
T |
C |
7: 141,020,690 (GRCm39) |
E469G |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,684,737 (GRCm39) |
D875G |
possibly damaging |
Het |
| Scrib |
G |
A |
15: 75,920,391 (GRCm39) |
R1454C |
probably damaging |
Het |
| Slc24a1 |
A |
G |
9: 64,855,978 (GRCm39) |
S310P |
unknown |
Het |
| Slc44a5 |
A |
G |
3: 153,963,351 (GRCm39) |
|
probably null |
Het |
| Snx4 |
T |
G |
16: 33,106,416 (GRCm39) |
M283R |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,623,222 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
T |
17: 35,043,574 (GRCm39) |
L212H |
probably damaging |
Het |
| Sult2a4 |
T |
C |
7: 13,723,420 (GRCm39) |
K32E |
probably damaging |
Het |
| Tfrc |
T |
A |
16: 32,442,193 (GRCm39) |
Y473N |
probably damaging |
Het |
| Tlr2 |
C |
G |
3: 83,744,660 (GRCm39) |
L474F |
probably damaging |
Het |
| Tnfrsf4 |
T |
A |
4: 156,100,619 (GRCm39) |
F213I |
probably benign |
Het |
| Trim9 |
A |
T |
12: 70,295,169 (GRCm39) |
I651N |
probably damaging |
Het |
| Vmn1r84 |
T |
A |
7: 12,096,460 (GRCm39) |
I78L |
possibly damaging |
Het |
| Vmn2r77 |
T |
C |
7: 86,460,356 (GRCm39) |
Y561H |
probably damaging |
Het |
| Vmn2r95 |
A |
G |
17: 18,660,901 (GRCm39) |
|
probably benign |
Het |
| Zfp11 |
T |
C |
5: 129,735,431 (GRCm39) |
N10S |
probably benign |
Het |
| Zfp81 |
A |
T |
17: 33,553,757 (GRCm39) |
H352Q |
probably damaging |
Het |
| Zscan5b |
T |
A |
7: 6,233,374 (GRCm39) |
L66Q |
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 |
|
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 |
|
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'- ACACAGCCTCTGATGCTCAGGAAC -3'
(R):5'- ACAGTGTCCCAGGCTAAGGAGATG -3'
Sequencing Primer
(F):5'- ATGCTCAGGAACCTGTGTC -3'
(R):5'- CCCCTCTGTGGAATTGAGTAAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation