Incidental Mutation 'R6867:Rasgrp2'
| ID |
535997 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp2
|
| Ensembl Gene |
ENSMUSG00000032946 |
| Gene Name |
RAS, guanyl releasing protein 2 |
| Synonyms |
Caldaggef1, CalDAG-GEFI |
| MMRRC Submission |
045028-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6867 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6449370-6465246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6463213 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 504
(S504N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035716]
[ENSMUST00000113476]
[ENSMUST00000127021]
[ENSMUST00000167240]
|
| AlphaFold |
Q9QUG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035716
AA Change: S504N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: S504N
| 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: ENSMUST00000113476
AA Change: S504N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: S504N
| 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 benign
Transcript: ENSMUST00000167240
AA Change: S504N
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: S504N
| 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 |
|
| Meta Mutation Damage Score |
0.0692 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apold1 |
T |
C |
6: 134,961,019 (GRCm39) |
S158P |
possibly damaging |
Het |
| Cep162 |
A |
T |
9: 87,099,134 (GRCm39) |
L788* |
probably null |
Het |
| Cyp7b1 |
T |
C |
3: 18,151,394 (GRCm39) |
Y273C |
probably damaging |
Het |
| Dlx1 |
C |
A |
2: 71,361,353 (GRCm39) |
N122K |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,508,976 (GRCm39) |
I1605K |
probably damaging |
Het |
| Enox1 |
T |
C |
14: 77,936,739 (GRCm39) |
|
probably null |
Het |
| F3 |
T |
C |
3: 121,523,020 (GRCm39) |
S77P |
possibly damaging |
Het |
| Fam186a |
T |
A |
15: 99,843,731 (GRCm39) |
I838L |
unknown |
Het |
| Flrt2 |
T |
C |
12: 95,746,156 (GRCm39) |
F165L |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,427,295 (GRCm39) |
V135E |
possibly damaging |
Het |
| Gm6741 |
T |
C |
17: 91,544,339 (GRCm39) |
L34P |
probably benign |
Het |
| Gna13 |
T |
C |
11: 109,286,948 (GRCm39) |
M257T |
possibly damaging |
Het |
| Hsd11b2 |
G |
A |
8: 106,248,949 (GRCm39) |
R147H |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,266,434 (GRCm39) |
Y2865C |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,090,320 (GRCm39) |
N610D |
probably damaging |
Het |
| Ipp |
T |
A |
4: 116,367,606 (GRCm39) |
|
probably null |
Het |
| Kdm5d |
A |
G |
Y: 927,425 (GRCm39) |
T682A |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,030,460 (GRCm39) |
Y471C |
probably benign |
Het |
| Mprip |
T |
C |
11: 59,640,456 (GRCm39) |
|
probably null |
Het |
| Mtres1 |
ACTGCACCACCT |
ACT |
10: 43,408,721 (GRCm39) |
|
probably benign |
Het |
| Myrfl |
T |
A |
10: 116,684,187 (GRCm39) |
R179* |
probably null |
Het |
| Nek1 |
C |
A |
8: 61,525,364 (GRCm39) |
Q601K |
possibly damaging |
Het |
| Neurod4 |
C |
G |
10: 130,106,583 (GRCm39) |
K230N |
probably damaging |
Het |
| Or1ab2 |
C |
T |
8: 72,863,707 (GRCm39) |
T99I |
possibly damaging |
Het |
| Or8u10 |
A |
G |
2: 85,916,082 (GRCm39) |
I13T |
possibly damaging |
Het |
| Orc3 |
A |
G |
4: 34,605,539 (GRCm39) |
L114P |
probably damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,292 (GRCm39) |
D950G |
probably damaging |
Het |
| Rgl2 |
A |
G |
17: 34,151,661 (GRCm39) |
D235G |
probably benign |
Het |
| Slc35e2 |
A |
G |
4: 155,703,157 (GRCm39) |
E390G |
probably benign |
Het |
| Slc39a1 |
T |
A |
3: 90,156,759 (GRCm39) |
V105E |
probably damaging |
Het |
| Tesk2 |
T |
A |
4: 116,658,995 (GRCm39) |
C291S |
probably damaging |
Het |
| Tmco3 |
T |
A |
8: 13,363,927 (GRCm39) |
F83Y |
probably damaging |
Het |
| Trim25 |
T |
C |
11: 88,901,713 (GRCm39) |
I336T |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,643,170 (GRCm39) |
I4177M |
probably damaging |
Het |
| Veph1 |
T |
A |
3: 66,162,458 (GRCm39) |
T67S |
probably damaging |
Het |
| Vmn2r43 |
A |
G |
7: 8,258,125 (GRCm39) |
F363L |
probably benign |
Het |
| Vps28 |
A |
T |
15: 76,506,871 (GRCm39) |
I109N |
probably damaging |
Het |
| Vps50 |
A |
G |
6: 3,517,835 (GRCm39) |
D91G |
probably benign |
Het |
| Wdr20 |
T |
C |
12: 110,760,133 (GRCm39) |
F340L |
probably benign |
Het |
| Wdr95 |
A |
G |
5: 149,504,388 (GRCm39) |
|
probably null |
Het |
| Zfand6 |
A |
G |
7: 84,265,122 (GRCm39) |
V193A |
probably damaging |
Het |
| Zfp703 |
C |
A |
8: 27,468,668 (GRCm39) |
P111T |
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 |
|
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 |
|
R8415:Rasgrp2
|
UTSW |
19 |
6,454,781 (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'- AGGTCCAAAGTCATGAGCTG -3'
(R):5'- AGGCCTGAGTTCTACATGTTCC -3'
Sequencing Primer
(F):5'- TCCAAAGTCATGAGCTGGGTGG -3'
(R):5'- AGTTCTACATGTTCCGCGGG -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation