Incidental Mutation 'R1437:Rasgrf2'
ID |
161324 |
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 |
039492-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.191)
|
Stock # |
R1437 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
92028519-92268164 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92167396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 226
(K226E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116203
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099326]
[ENSMUST00000146492]
[ENSMUST00000216219]
|
AlphaFold |
P70392 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099326
AA Change: K226E
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000096930 Gene: ENSMUSG00000021708 AA Change: K226E
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: K226E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000116203 Gene: ENSMUSG00000021708 AA Change: K226E
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 |
unknown
Transcript: ENSMUST00000149630
AA Change: K6E
|
SMART Domains |
Protein: ENSMUSP00000115562 Gene: ENSMUSG00000021708 AA Change: K6E
Domain | Start | End | E-Value | Type |
Pfam:RhoGEF
|
28 |
168 |
4.3e-26 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000216219
AA Change: K226E
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.3%
|
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
A |
5: 8,871,436 (GRCm39) |
V330E |
possibly damaging |
Het |
Abcb5 |
A |
G |
12: 118,838,497 (GRCm39) |
S1022P |
probably damaging |
Het |
Abcc8 |
A |
G |
7: 45,829,237 (GRCm39) |
I46T |
probably damaging |
Het |
Add3 |
A |
G |
19: 53,222,109 (GRCm39) |
R275G |
probably damaging |
Het |
Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
Arhgef4 |
A |
G |
1: 34,763,026 (GRCm39) |
T761A |
unknown |
Het |
Asap1 |
A |
T |
15: 63,991,956 (GRCm39) |
L751Q |
probably damaging |
Het |
Atg2a |
C |
A |
19: 6,300,646 (GRCm39) |
P741H |
probably damaging |
Het |
Atxn10 |
T |
C |
15: 85,243,675 (GRCm39) |
I46T |
possibly damaging |
Het |
BC049715 |
C |
A |
6: 136,817,090 (GRCm39) |
A110E |
probably damaging |
Het |
Bltp1 |
C |
A |
3: 36,996,578 (GRCm39) |
H1097N |
possibly damaging |
Het |
Btbd7 |
T |
A |
12: 102,754,349 (GRCm39) |
T806S |
possibly damaging |
Het |
Cdk4 |
C |
A |
10: 126,900,558 (GRCm39) |
P108H |
probably damaging |
Het |
Cep290 |
A |
G |
10: 100,407,963 (GRCm39) |
T2391A |
probably benign |
Het |
Col6a3 |
G |
T |
1: 90,729,098 (GRCm39) |
A1281E |
probably damaging |
Het |
Cpa5 |
A |
T |
6: 30,624,654 (GRCm39) |
I165F |
probably damaging |
Het |
Ctdp1 |
G |
T |
18: 80,493,428 (GRCm39) |
Q356K |
probably benign |
Het |
Ddx21 |
A |
G |
10: 62,434,369 (GRCm39) |
M130T |
unknown |
Het |
Epha5 |
T |
G |
5: 84,381,555 (GRCm39) |
D432A |
probably damaging |
Het |
Esr1 |
ACGCCGCCGCCGCCGCCGCCGCCGCCGCC |
ACGCCGCCGCCGCCGCCGCCGCCGCC |
10: 4,662,571 (GRCm39) |
|
probably benign |
Het |
Fads2 |
A |
T |
19: 10,069,193 (GRCm39) |
L77Q |
probably benign |
Het |
Fbn2 |
A |
T |
18: 58,186,731 (GRCm39) |
H1723Q |
possibly damaging |
Het |
Fbxo42 |
C |
T |
4: 140,895,165 (GRCm39) |
H43Y |
probably benign |
Het |
Fry |
A |
G |
5: 150,233,890 (GRCm39) |
T121A |
possibly damaging |
Het |
Gpr156 |
T |
G |
16: 37,808,904 (GRCm39) |
S209A |
probably damaging |
Het |
Hey2 |
T |
C |
10: 30,709,845 (GRCm39) |
T303A |
probably benign |
Het |
Hivep1 |
T |
A |
13: 42,310,616 (GRCm39) |
M952K |
probably benign |
Het |
Hydin |
C |
T |
8: 111,308,617 (GRCm39) |
Q3968* |
probably null |
Het |
Jup |
T |
C |
11: 100,274,402 (GRCm39) |
E96G |
probably benign |
Het |
Kcnn1 |
A |
G |
8: 71,297,195 (GRCm39) |
I504T |
probably benign |
Het |
Klk1b9 |
T |
C |
7: 43,629,114 (GRCm39) |
V174A |
probably damaging |
Het |
Lama3 |
G |
C |
18: 12,682,284 (GRCm39) |
M1083I |
possibly damaging |
Het |
Lcmt2 |
A |
G |
2: 120,969,377 (GRCm39) |
S569P |
probably benign |
Het |
Lrfn2 |
T |
C |
17: 49,378,253 (GRCm39) |
S445P |
probably damaging |
Het |
Lrp3 |
C |
A |
7: 34,912,595 (GRCm39) |
G31W |
probably damaging |
Het |
Lrrc8b |
T |
C |
5: 105,629,568 (GRCm39) |
L638P |
probably damaging |
Het |
Mief2 |
C |
T |
11: 60,621,769 (GRCm39) |
T113M |
probably benign |
Het |
Mrps2 |
T |
C |
2: 28,358,899 (GRCm39) |
F76S |
probably damaging |
Het |
Naca |
A |
G |
10: 127,878,048 (GRCm39) |
|
probably benign |
Het |
Ndst4 |
C |
A |
3: 125,355,099 (GRCm39) |
R336S |
probably damaging |
Het |
Nr1i3 |
CACTCAACACTAC |
CAC |
1: 171,044,710 (GRCm39) |
|
probably null |
Het |
Nr5a1 |
T |
A |
2: 38,600,685 (GRCm39) |
T29S |
probably benign |
Het |
Or5ak23 |
T |
C |
2: 85,245,218 (GRCm39) |
I2V |
probably benign |
Het |
Or5as1 |
C |
T |
2: 86,980,115 (GRCm39) |
V297M |
possibly damaging |
Het |
Pald1 |
A |
G |
10: 61,177,064 (GRCm39) |
F662S |
possibly damaging |
Het |
Pdcd4 |
G |
T |
19: 53,897,674 (GRCm39) |
A59S |
probably damaging |
Het |
Pde4a |
T |
C |
9: 21,103,888 (GRCm39) |
|
probably null |
Het |
Pkd1 |
T |
A |
17: 24,814,106 (GRCm39) |
S4159T |
probably damaging |
Het |
Plaat1 |
C |
A |
16: 29,046,922 (GRCm39) |
A147E |
possibly damaging |
Het |
Plch1 |
C |
A |
3: 63,604,954 (GRCm39) |
R1641L |
probably benign |
Het |
Plec |
G |
T |
15: 76,073,481 (GRCm39) |
P308Q |
probably damaging |
Het |
Pnkp |
A |
G |
7: 44,509,826 (GRCm39) |
S262G |
possibly damaging |
Het |
Pou2f1 |
A |
G |
1: 165,719,399 (GRCm39) |
V504A |
probably damaging |
Het |
Prepl |
G |
A |
17: 85,395,785 (GRCm39) |
R66W |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,269,306 (GRCm39) |
F381L |
probably benign |
Het |
Sbsn |
C |
T |
7: 30,452,478 (GRCm39) |
Q498* |
probably null |
Het |
Scgb2b19 |
T |
C |
7: 32,977,980 (GRCm39) |
I106V |
probably benign |
Het |
Sf3a2 |
G |
A |
10: 80,640,040 (GRCm39) |
|
probably benign |
Het |
Sis |
T |
C |
3: 72,841,475 (GRCm39) |
H780R |
probably damaging |
Het |
Slc28a3 |
G |
T |
13: 58,706,389 (GRCm39) |
C617* |
probably null |
Het |
Slc44a1 |
T |
A |
4: 53,561,006 (GRCm39) |
V574D |
probably damaging |
Het |
Slc8a3 |
T |
A |
12: 81,362,760 (GRCm39) |
T20S |
probably damaging |
Het |
Stt3b |
T |
A |
9: 115,083,995 (GRCm39) |
I394F |
probably damaging |
Het |
Ubap1l |
T |
A |
9: 65,279,337 (GRCm39) |
V212D |
possibly damaging |
Het |
Ugt2b35 |
T |
C |
5: 87,148,890 (GRCm39) |
V47A |
probably benign |
Het |
Vmn2r114 |
A |
G |
17: 23,510,185 (GRCm39) |
F765S |
probably damaging |
Het |
Vps50 |
C |
T |
6: 3,517,852 (GRCm39) |
Q97* |
probably null |
Het |
Vsig10 |
A |
G |
5: 117,489,635 (GRCm39) |
Q467R |
probably damaging |
Het |
Wdsub1 |
T |
G |
2: 59,708,477 (GRCm39) |
Y11S |
probably damaging |
Het |
Zbtb11 |
T |
G |
16: 55,811,983 (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 |
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 |
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'- TCCGTCTCCTTCAGCTTGGAAGAG -3'
(R):5'- GAACGCATCATCCTAAGGGTGTCG -3'
Sequencing Primer
(F):5'- TCTTTTCAGACTACAGGAGGGAC -3'
(R):5'- CCTAAGGGTGTCGTTTATATGGTTC -3'
|
Posted On |
2014-03-14 |