Incidental Mutation 'R9800:Rasgrf2'
| ID |
735178 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
R9800 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92267860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 48
(Q48L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096930
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
[ENSMUST00000146492]
[ENSMUST00000216219]
|
| AlphaFold |
P70392 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099326
AA Change: Q48L
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096930
Gene: ENSMUSG00000021708
AA Change: Q48L
| 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: Q48L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116203
Gene: ENSMUSG00000021708
AA Change: Q48L
| 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 damaging
Transcript: ENSMUST00000216219
AA Change: Q48L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,119,283 (GRCm39) |
I1009N |
possibly damaging |
Het |
| Abtb3 |
C |
A |
10: 85,224,079 (GRCm39) |
A296E |
unknown |
Het |
| Adcy8 |
T |
A |
15: 64,571,095 (GRCm39) |
N1213Y |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,581,433 (GRCm39) |
S1590G |
possibly damaging |
Het |
| Ahcyl1 |
A |
T |
3: 107,577,588 (GRCm39) |
N277K |
probably damaging |
Het |
| Ank2 |
A |
T |
3: 126,740,149 (GRCm39) |
S1912T |
unknown |
Het |
| Ank3 |
T |
A |
10: 69,733,957 (GRCm39) |
N740K |
unknown |
Het |
| Atp13a3 |
A |
C |
16: 30,159,051 (GRCm39) |
I800S |
probably benign |
Het |
| AU041133 |
T |
A |
10: 81,986,679 (GRCm39) |
C111S |
probably damaging |
Het |
| Azi2 |
T |
A |
9: 117,884,924 (GRCm39) |
I211N |
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,408 (GRCm39) |
N480S |
probably damaging |
Het |
| Card6 |
A |
G |
15: 5,128,702 (GRCm39) |
V898A |
probably benign |
Het |
| Copb2 |
T |
A |
9: 98,461,081 (GRCm39) |
M381K |
probably damaging |
Het |
| Cplx3 |
T |
C |
9: 57,523,060 (GRCm39) |
D133G |
probably damaging |
Het |
| Crisp1 |
A |
T |
17: 40,616,071 (GRCm39) |
M102K |
probably damaging |
Het |
| Dcxr |
A |
T |
11: 120,618,084 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
C |
A |
7: 109,500,374 (GRCm39) |
R917L |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,279,525 (GRCm39) |
T494S |
probably benign |
Het |
| Fkbpl |
T |
A |
17: 34,864,691 (GRCm39) |
M153K |
probably benign |
Het |
| Helz2 |
A |
T |
2: 180,882,616 (GRCm39) |
I59N |
probably damaging |
Het |
| Ldlrap1 |
T |
C |
4: 134,477,303 (GRCm39) |
T194A |
probably benign |
Het |
| Lrrc27 |
T |
C |
7: 138,807,913 (GRCm39) |
M340T |
probably benign |
Het |
| Lum |
T |
A |
10: 97,404,157 (GRCm39) |
S17R |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 15,847,405 (GRCm39) |
K1182E |
unknown |
Het |
| Map3k2 |
A |
T |
18: 32,333,069 (GRCm39) |
D81V |
possibly damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,480 (GRCm39) |
T2809S |
possibly damaging |
Het |
| Nle1 |
C |
A |
11: 82,793,876 (GRCm39) |
V387L |
probably benign |
Het |
| Nr1h4 |
T |
C |
10: 89,290,618 (GRCm39) |
D474G |
probably benign |
Het |
| Nup205 |
T |
C |
6: 35,163,468 (GRCm39) |
I144T |
possibly damaging |
Het |
| Or10ag57 |
G |
T |
2: 87,218,508 (GRCm39) |
C153F |
probably damaging |
Het |
| Or1e17 |
C |
A |
11: 73,831,986 (GRCm39) |
L305I |
probably benign |
Het |
| Or2a56 |
A |
T |
6: 42,933,091 (GRCm39) |
I220F |
probably damaging |
Het |
| Or4f15 |
G |
A |
2: 111,814,194 (GRCm39) |
S75L |
possibly damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,701 (GRCm39) |
T3I |
probably benign |
Het |
| Or51f1 |
T |
C |
7: 102,506,093 (GRCm39) |
Y132C |
probably benign |
Het |
| Pkn3 |
C |
T |
2: 29,973,290 (GRCm39) |
R371* |
probably null |
Het |
| Plin2 |
A |
T |
4: 86,586,742 (GRCm39) |
S30T |
possibly damaging |
Het |
| Ppfibp1 |
T |
C |
6: 146,917,769 (GRCm39) |
V475A |
probably benign |
Het |
| Ppp2ca |
T |
C |
11: 52,008,910 (GRCm39) |
Y137H |
probably damaging |
Het |
| Rnf168 |
G |
C |
16: 32,117,386 (GRCm39) |
V316L |
probably benign |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Spata31d1d |
T |
C |
13: 59,874,637 (GRCm39) |
H966R |
possibly damaging |
Het |
| Speg |
C |
A |
1: 75,399,358 (GRCm39) |
D2268E |
probably benign |
Het |
| Srp54c |
A |
G |
12: 55,296,811 (GRCm39) |
I170V |
probably benign |
Het |
| Syde2 |
A |
G |
3: 145,704,364 (GRCm39) |
R439G |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,949,558 (GRCm39) |
K1155R |
unknown |
Het |
| Tmem184c |
T |
C |
8: 78,323,087 (GRCm39) |
I592V |
probably benign |
Het |
| Trav6-7-dv9 |
A |
G |
14: 53,947,669 (GRCm39) |
Y57C |
probably damaging |
Het |
| Trpc1 |
T |
A |
9: 95,625,303 (GRCm39) |
I108F |
probably damaging |
Het |
| Virma |
A |
T |
4: 11,546,007 (GRCm39) |
H1615L |
probably damaging |
Het |
| Vmn2r10 |
A |
T |
5: 109,150,404 (GRCm39) |
D213E |
probably damaging |
Het |
| Vmn2r116 |
T |
A |
17: 23,620,399 (GRCm39) |
V711E |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,282,405 (GRCm39) |
F413L |
probably benign |
Het |
| Vwa1 |
G |
A |
4: 155,857,336 (GRCm39) |
P154L |
probably damaging |
Het |
| Wasf1 |
T |
C |
10: 40,812,693 (GRCm39) |
I494T |
unknown |
Het |
| Wdr36 |
A |
G |
18: 32,985,700 (GRCm39) |
D539G |
possibly damaging |
Het |
| Zfp81 |
A |
T |
17: 33,554,411 (GRCm39) |
C134* |
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 |
|
|
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 |
|
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'- AGGGTCTCCAAGCACTTGTC -3'
(R):5'- TACTTCGGGTGGAGTGACACTG -3'
Sequencing Primer
(F):5'- AAGCACTTGTCCCTGCG -3'
(R):5'- AGGGCAATCTGCGATGACC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation