Incidental Mutation 'R8415:Rasgrp2'
ID |
652922 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp2
|
Ensembl Gene |
ENSMUSG00000032946 |
Gene Name |
RAS, guanyl releasing protein 2 |
Synonyms |
Caldaggef1, CalDAG-GEFI |
MMRRC Submission |
067769-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8415 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
6449370-6465246 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 6454781 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 207
(V207G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041135
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035716]
[ENSMUST00000113467]
[ENSMUST00000113468]
[ENSMUST00000113469]
[ENSMUST00000113471]
[ENSMUST00000113472]
[ENSMUST00000113475]
[ENSMUST00000113476]
[ENSMUST00000127021]
[ENSMUST00000138555]
[ENSMUST00000139522]
[ENSMUST00000146601]
[ENSMUST00000146831]
[ENSMUST00000150713]
[ENSMUST00000167240]
|
AlphaFold |
Q9QUG9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035716
AA Change: V207G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041135 Gene: ENSMUSG00000032946 AA Change: V207G
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
RasGEF
|
150 |
388 |
1.08e-100 |
SMART |
EFh
|
430 |
458 |
8.25e-3 |
SMART |
EFh
|
459 |
487 |
1.42e1 |
SMART |
C1
|
499 |
548 |
3.22e-14 |
SMART |
low complexity region
|
575 |
595 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113467
|
SMART Domains |
Protein: ENSMUSP00000109095 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
3 |
24 |
9e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113468
|
SMART Domains |
Protein: ENSMUSP00000109096 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
97 |
1.93e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113469
|
SMART Domains |
Protein: ENSMUSP00000109097 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
3 |
24 |
1e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113471
|
SMART Domains |
Protein: ENSMUSP00000109099 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
7.2e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113472
|
SMART Domains |
Protein: ENSMUSP00000109100 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
7.2e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113475
|
SMART Domains |
Protein: ENSMUSP00000109103 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
7.2e-31 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000113476
AA Change: V207G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000109104 Gene: ENSMUSG00000032946 AA Change: V207G
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
RasGEF
|
150 |
388 |
1.08e-100 |
SMART |
EFh
|
430 |
458 |
8.25e-3 |
SMART |
EFh
|
459 |
487 |
1.42e1 |
SMART |
C1
|
499 |
548 |
3.22e-14 |
SMART |
low complexity region
|
575 |
595 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127021
|
SMART Domains |
Protein: ENSMUSP00000119740 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
3 |
24 |
1e-7 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138555
AA Change: V207G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121635 Gene: ENSMUSG00000032946 AA Change: V207G
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
Pfam:RasGEF
|
151 |
231 |
1.6e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139522
|
SMART Domains |
Protein: ENSMUSP00000123036 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
125 |
6.02e-27 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146601
|
SMART Domains |
Protein: ENSMUSP00000117681 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
3 |
58 |
1e-35 |
BLAST |
SCOP:d1bkds_
|
9 |
58 |
1e-8 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146831
|
SMART Domains |
Protein: ENSMUSP00000120630 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150713
|
SMART Domains |
Protein: ENSMUSP00000120949 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
95 |
6.73e-7 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167240
AA Change: V207G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129873 Gene: ENSMUSG00000032946 AA Change: V207G
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
RasGEF
|
150 |
388 |
1.08e-100 |
SMART |
EFh
|
430 |
458 |
8.25e-3 |
SMART |
EFh
|
459 |
487 |
1.42e1 |
SMART |
C1
|
499 |
548 |
3.22e-14 |
SMART |
low complexity region
|
575 |
595 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016] PHENOTYPE: Mice homozygous for a knock-out allele do not undergo spontaneous hemorrhaging but exhibit impaired platelet aggregation, resistance to collagen-induced thrombosis, and increased bleeding times after tail transection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd24 |
A |
G |
10: 81,475,947 (GRCm39) |
H317R |
unknown |
Het |
Aox1 |
A |
T |
1: 58,080,638 (GRCm39) |
Y29F |
probably damaging |
Het |
Bnip2 |
T |
C |
9: 69,910,967 (GRCm39) |
F304S |
possibly damaging |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
Ccdc18 |
T |
A |
5: 108,363,899 (GRCm39) |
V1198E |
probably damaging |
Het |
Cnot3 |
T |
C |
7: 3,661,687 (GRCm39) |
F660L |
probably benign |
Het |
Cntnap3 |
A |
G |
13: 64,886,479 (GRCm39) |
I1249T |
probably benign |
Het |
Ctnna3 |
A |
G |
10: 63,339,909 (GRCm39) |
I32V |
probably benign |
Het |
Dgkz |
A |
T |
2: 91,770,649 (GRCm39) |
S485T |
possibly damaging |
Het |
Dnaaf6rt |
A |
G |
1: 31,262,564 (GRCm39) |
N182S |
probably benign |
Het |
Dpagt1 |
C |
A |
9: 44,238,482 (GRCm39) |
N49K |
possibly damaging |
Het |
Dsg3 |
A |
T |
18: 20,656,765 (GRCm39) |
S212C |
probably damaging |
Het |
Epb41l1 |
C |
T |
2: 156,368,873 (GRCm39) |
A714V |
probably benign |
Het |
Eppk1 |
A |
G |
15: 75,995,831 (GRCm39) |
V350A |
probably benign |
Het |
Frem1 |
T |
G |
4: 82,918,499 (GRCm39) |
D481A |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,871,989 (GRCm39) |
K532E |
possibly damaging |
Het |
Glyr1 |
T |
C |
16: 4,854,329 (GRCm39) |
H102R |
probably benign |
Het |
Hdgfl2 |
C |
T |
17: 56,400,712 (GRCm39) |
P160L |
probably benign |
Het |
Hivep1 |
T |
C |
13: 42,308,905 (GRCm39) |
S382P |
probably benign |
Het |
Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
Hydin |
G |
A |
8: 111,178,626 (GRCm39) |
G1074R |
probably damaging |
Het |
Ift140 |
A |
G |
17: 25,311,889 (GRCm39) |
I1271V |
probably damaging |
Het |
Krt28 |
T |
A |
11: 99,265,626 (GRCm39) |
I14L |
probably benign |
Het |
Lrtm2 |
A |
T |
6: 119,294,458 (GRCm39) |
D224E |
probably damaging |
Het |
Map1s |
G |
A |
8: 71,365,910 (GRCm39) |
V272M |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,233,866 (GRCm39) |
Y960H |
probably damaging |
Het |
Mettl25 |
G |
T |
10: 105,662,002 (GRCm39) |
Q323K |
probably benign |
Het |
Mlh3 |
A |
T |
12: 85,315,854 (GRCm39) |
S111T |
probably benign |
Het |
Muc17 |
A |
G |
5: 137,172,798 (GRCm39) |
L85P |
|
Het |
Myh6 |
C |
G |
14: 55,181,835 (GRCm39) |
R1822P |
probably damaging |
Het |
Myof |
C |
T |
19: 37,983,872 (GRCm39) |
G144E |
probably benign |
Het |
Nat8f2 |
A |
G |
6: 85,845,024 (GRCm39) |
S113P |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,256,925 (GRCm39) |
Y181F |
probably benign |
Het |
Nup85 |
A |
G |
11: 115,457,468 (GRCm39) |
I57V |
probably benign |
Het |
Or4c99 |
T |
A |
2: 88,329,710 (GRCm39) |
C94S |
probably damaging |
Het |
Or5p79 |
C |
T |
7: 108,221,163 (GRCm39) |
T48I |
probably damaging |
Het |
Or7e170 |
T |
A |
9: 19,795,409 (GRCm39) |
Y64F |
possibly damaging |
Het |
Pcdhb2 |
A |
G |
18: 37,429,110 (GRCm39) |
N361S |
probably damaging |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Phf20 |
C |
T |
2: 156,129,913 (GRCm39) |
T495M |
probably benign |
Het |
Pitpnm1 |
T |
C |
19: 4,155,454 (GRCm39) |
M368T |
probably benign |
Het |
Pter |
A |
G |
2: 13,005,700 (GRCm39) |
D291G |
probably damaging |
Het |
Rnd2 |
A |
T |
11: 101,362,011 (GRCm39) |
Q188L |
probably benign |
Het |
Sh3d19 |
T |
A |
3: 85,992,363 (GRCm39) |
D130E |
probably benign |
Het |
Slc7a2 |
A |
T |
8: 41,369,396 (GRCm39) |
Y617F |
probably damaging |
Het |
Snx29 |
T |
C |
16: 11,265,291 (GRCm39) |
L165P |
probably damaging |
Het |
St7 |
T |
C |
6: 17,848,080 (GRCm39) |
|
probably null |
Het |
Tas2r115 |
A |
G |
6: 132,714,798 (GRCm39) |
L51P |
probably damaging |
Het |
Tead1 |
C |
A |
7: 112,456,135 (GRCm39) |
P164Q |
probably benign |
Het |
Thop1 |
A |
G |
10: 80,914,385 (GRCm39) |
Y224C |
probably damaging |
Het |
Twf1 |
T |
C |
15: 94,477,702 (GRCm39) |
*351W |
probably null |
Het |
Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
Utp20 |
A |
G |
10: 88,662,466 (GRCm39) |
|
probably null |
Het |
Vmn2r118 |
G |
T |
17: 55,915,057 (GRCm39) |
L530I |
probably benign |
Het |
Vmn2r30 |
A |
T |
7: 7,315,359 (GRCm39) |
C825S |
probably damaging |
Het |
Vps13d |
A |
T |
4: 144,818,549 (GRCm39) |
M3106K |
|
Het |
Wfdc15a |
A |
T |
2: 164,041,671 (GRCm39) |
C51S |
probably damaging |
Het |
Zc3hc1 |
T |
C |
6: 30,375,951 (GRCm39) |
D203G |
probably damaging |
Het |
Zfhx2 |
G |
T |
14: 55,308,079 (GRCm39) |
D932E |
probably benign |
Het |
Zfp267 |
G |
A |
3: 36,219,182 (GRCm39) |
G402S |
probably damaging |
Het |
|
Other mutations in Rasgrp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01013:Rasgrp2
|
APN |
19 |
6,454,413 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03053:Rasgrp2
|
APN |
19 |
6,457,362 (GRCm39) |
splice site |
probably benign |
|
afar
|
UTSW |
19 |
6,453,595 (GRCm39) |
critical splice donor site |
probably null |
|
thither
|
UTSW |
19 |
6,454,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R1593:Rasgrp2
|
UTSW |
19 |
6,453,490 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1604:Rasgrp2
|
UTSW |
19 |
6,457,087 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2016:Rasgrp2
|
UTSW |
19 |
6,463,195 (GRCm39) |
missense |
probably benign |
0.01 |
R2017:Rasgrp2
|
UTSW |
19 |
6,463,195 (GRCm39) |
missense |
probably benign |
0.01 |
R2119:Rasgrp2
|
UTSW |
19 |
6,454,425 (GRCm39) |
missense |
probably benign |
0.00 |
R2120:Rasgrp2
|
UTSW |
19 |
6,454,425 (GRCm39) |
missense |
probably benign |
0.00 |
R2122:Rasgrp2
|
UTSW |
19 |
6,454,425 (GRCm39) |
missense |
probably benign |
0.00 |
R2124:Rasgrp2
|
UTSW |
19 |
6,454,425 (GRCm39) |
missense |
probably benign |
0.00 |
R3879:Rasgrp2
|
UTSW |
19 |
6,463,920 (GRCm39) |
missense |
probably benign |
0.07 |
R4049:Rasgrp2
|
UTSW |
19 |
6,454,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R4655:Rasgrp2
|
UTSW |
19 |
6,454,876 (GRCm39) |
intron |
probably benign |
|
R5250:Rasgrp2
|
UTSW |
19 |
6,454,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R5320:Rasgrp2
|
UTSW |
19 |
6,458,864 (GRCm39) |
splice site |
probably null |
|
R5620:Rasgrp2
|
UTSW |
19 |
6,455,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R5933:Rasgrp2
|
UTSW |
19 |
6,452,543 (GRCm39) |
missense |
probably damaging |
1.00 |
R6155:Rasgrp2
|
UTSW |
19 |
6,452,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R6157:Rasgrp2
|
UTSW |
19 |
6,452,531 (GRCm39) |
missense |
probably damaging |
1.00 |
R6867:Rasgrp2
|
UTSW |
19 |
6,463,213 (GRCm39) |
missense |
probably benign |
0.00 |
R7237:Rasgrp2
|
UTSW |
19 |
6,454,838 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7575:Rasgrp2
|
UTSW |
19 |
6,454,397 (GRCm39) |
missense |
probably damaging |
0.99 |
R7659:Rasgrp2
|
UTSW |
19 |
6,451,857 (GRCm39) |
missense |
probably damaging |
0.98 |
R7744:Rasgrp2
|
UTSW |
19 |
6,455,031 (GRCm39) |
missense |
probably damaging |
1.00 |
R7960:Rasgrp2
|
UTSW |
19 |
6,464,839 (GRCm39) |
missense |
probably benign |
|
R7975:Rasgrp2
|
UTSW |
19 |
6,458,589 (GRCm39) |
missense |
probably damaging |
1.00 |
R8470:Rasgrp2
|
UTSW |
19 |
6,453,595 (GRCm39) |
critical splice donor site |
probably null |
|
R8745:Rasgrp2
|
UTSW |
19 |
6,463,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R8853:Rasgrp2
|
UTSW |
19 |
6,464,855 (GRCm39) |
missense |
probably damaging |
0.98 |
R8897:Rasgrp2
|
UTSW |
19 |
6,453,100 (GRCm39) |
missense |
probably benign |
0.15 |
R9108:Rasgrp2
|
UTSW |
19 |
6,458,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R9127:Rasgrp2
|
UTSW |
19 |
6,454,438 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9725:Rasgrp2
|
UTSW |
19 |
6,463,907 (GRCm39) |
missense |
probably benign |
0.07 |
R9725:Rasgrp2
|
UTSW |
19 |
6,454,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCGGTTTCATCAAATGACAG -3'
(R):5'- TGTTGAAGTTCTGCAGCTGC -3'
Sequencing Primer
(F):5'- CGGTTTCATCAAATGACAGAGGGAG -3'
(R):5'- TGCAGCAGCCTCTGGAAG -3'
|
Posted On |
2020-10-20 |