Incidental Mutation 'R4655:Rasgrp2'
| ID |
352398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp2
|
| Ensembl Gene |
ENSMUSG00000032946 |
| Gene Name |
RAS, guanyl releasing protein 2 |
| Synonyms |
Caldaggef1, CalDAG-GEFI |
| MMRRC Submission |
041915-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4655 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
6449370-6465246 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 6454876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035716]
[ENSMUST00000113467]
[ENSMUST00000113468]
[ENSMUST00000113469]
[ENSMUST00000113471]
[ENSMUST00000113472]
[ENSMUST00000113475]
[ENSMUST00000146601]
[ENSMUST00000127021]
[ENSMUST00000139522]
[ENSMUST00000113476]
[ENSMUST00000138555]
[ENSMUST00000146831]
[ENSMUST00000167240]
[ENSMUST00000150713]
|
| AlphaFold |
Q9QUG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035716
|
| SMART Domains |
Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
| 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 |
noncoding transcript
Transcript: ENSMUST00000148906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130480
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135532
|
| 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: 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: 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: ENSMUST00000113476
|
| SMART Domains |
Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
| 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: ENSMUST00000138555
|
| SMART Domains |
Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946
| 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: ENSMUST00000146831
|
| SMART Domains |
Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152022
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149205
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167240
|
| SMART Domains |
Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
| 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: ENSMUST00000150713
|
| SMART Domains |
Protein: ENSMUSP00000120949
Gene: ENSMUSG00000032946
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
95 |
6.73e-7 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (79/82) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
A |
G |
2: 151,314,778 (GRCm39) |
V300A |
probably benign |
Het |
| Aadacl4fm2 |
A |
T |
4: 144,281,645 (GRCm39) |
F382L |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,941,147 (GRCm39) |
N405S |
possibly damaging |
Het |
| Acsl3 |
A |
G |
1: 78,668,063 (GRCm39) |
T212A |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,986,065 (GRCm39) |
K2450E |
probably damaging |
Het |
| Akap9 |
G |
A |
5: 4,096,403 (GRCm39) |
R2426H |
probably benign |
Het |
| Akr1c6 |
T |
C |
13: 4,499,428 (GRCm39) |
V266A |
probably damaging |
Het |
| Ccs |
A |
G |
19: 4,889,232 (GRCm39) |
V11A |
probably benign |
Het |
| Cdc14a |
T |
A |
3: 116,122,136 (GRCm39) |
H228L |
probably damaging |
Het |
| Cgn |
G |
A |
3: 94,686,559 (GRCm39) |
Q248* |
probably null |
Het |
| Cux2 |
G |
A |
5: 122,023,997 (GRCm39) |
T92M |
possibly damaging |
Het |
| Cyb5r4 |
A |
G |
9: 86,941,482 (GRCm39) |
K68E |
probably benign |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Dnah9 |
T |
C |
11: 65,846,558 (GRCm39) |
N2918S |
probably benign |
Het |
| Dyrk1b |
T |
C |
7: 27,885,176 (GRCm39) |
V438A |
probably damaging |
Het |
| Eml1 |
G |
A |
12: 108,500,972 (GRCm39) |
D625N |
probably damaging |
Het |
| Eno2 |
T |
C |
6: 124,740,889 (GRCm39) |
|
probably null |
Het |
| Ephb3 |
G |
A |
16: 21,040,958 (GRCm39) |
G672D |
probably damaging |
Het |
| Evx1 |
A |
T |
6: 52,291,182 (GRCm39) |
D118V |
probably damaging |
Het |
| Fbxl13 |
A |
G |
5: 21,787,037 (GRCm39) |
L300S |
probably damaging |
Het |
| Fbxo30 |
T |
C |
10: 11,166,837 (GRCm39) |
F520L |
probably damaging |
Het |
| Flt3 |
G |
A |
5: 147,286,403 (GRCm39) |
P728S |
possibly damaging |
Het |
| Gas2l2 |
T |
C |
11: 83,314,001 (GRCm39) |
E437G |
possibly damaging |
Het |
| Gldc |
A |
T |
19: 30,138,102 (GRCm39) |
|
probably benign |
Het |
| Gm18856 |
T |
C |
13: 14,140,232 (GRCm39) |
|
probably benign |
Het |
| Gm7358 |
A |
T |
17: 14,279,410 (GRCm39) |
|
noncoding transcript |
Het |
| Grifin |
A |
G |
5: 140,550,300 (GRCm39) |
V47A |
possibly damaging |
Het |
| H3c7 |
T |
C |
13: 23,728,923 (GRCm39) |
V90A |
probably benign |
Het |
| Hddc2 |
G |
T |
10: 31,204,016 (GRCm39) |
|
probably benign |
Het |
| Hkdc1 |
T |
A |
10: 62,236,242 (GRCm39) |
R433S |
probably benign |
Het |
| Htt |
A |
G |
5: 35,063,476 (GRCm39) |
D2918G |
probably benign |
Het |
| Itga2 |
A |
C |
13: 115,009,805 (GRCm39) |
D383E |
probably benign |
Het |
| Itpr1 |
G |
A |
6: 108,458,254 (GRCm39) |
C2007Y |
probably damaging |
Het |
| Krt42 |
C |
A |
11: 100,160,671 (GRCm39) |
Q9H |
probably damaging |
Het |
| Lyrm7 |
T |
C |
11: 54,739,434 (GRCm39) |
Q72R |
probably damaging |
Het |
| Mmp9 |
A |
G |
2: 164,793,122 (GRCm39) |
S424G |
probably benign |
Het |
| Mtr |
A |
G |
13: 12,242,679 (GRCm39) |
V457A |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,781,523 (GRCm39) |
L1359P |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,117,311 (GRCm39) |
L4087P |
probably damaging |
Het |
| Npl |
T |
C |
1: 153,391,152 (GRCm39) |
D201G |
probably damaging |
Het |
| Or1af1 |
A |
G |
2: 37,109,885 (GRCm39) |
N128S |
probably benign |
Het |
| Or8b1c |
C |
A |
9: 38,384,120 (GRCm39) |
P26T |
probably damaging |
Het |
| Or8k3 |
A |
G |
2: 86,059,037 (GRCm39) |
S93P |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,732,397 (GRCm39) |
|
probably benign |
Het |
| Pdp2 |
A |
G |
8: 105,321,168 (GRCm39) |
D339G |
probably benign |
Het |
| Pfdn6 |
A |
T |
17: 34,159,014 (GRCm39) |
Y16* |
probably null |
Het |
| Pilra |
C |
T |
5: 137,833,588 (GRCm39) |
|
probably null |
Het |
| Prrc2a |
A |
T |
17: 35,374,590 (GRCm39) |
N1353K |
probably benign |
Het |
| Prss3l |
T |
A |
6: 41,422,984 (GRCm39) |
I6F |
probably benign |
Het |
| Ptger4 |
C |
A |
15: 5,272,545 (GRCm39) |
A50S |
probably benign |
Het |
| Pus10 |
T |
C |
11: 23,622,707 (GRCm39) |
V109A |
probably benign |
Het |
| Pus3 |
A |
C |
9: 35,476,228 (GRCm39) |
D39A |
probably benign |
Het |
| Rab44 |
A |
G |
17: 29,358,168 (GRCm39) |
N119D |
probably benign |
Het |
| Rhobtb2 |
T |
A |
14: 70,033,438 (GRCm39) |
I511F |
probably damaging |
Het |
| Sfxn1 |
C |
A |
13: 54,246,457 (GRCm39) |
A167D |
probably benign |
Het |
| Slc12a6 |
A |
G |
2: 112,188,111 (GRCm39) |
|
probably null |
Het |
| Smyd4 |
C |
T |
11: 75,281,558 (GRCm39) |
L344F |
probably damaging |
Het |
| Srsf11 |
A |
G |
3: 157,728,972 (GRCm39) |
V93A |
probably benign |
Het |
| Tle1 |
A |
G |
4: 72,063,581 (GRCm39) |
I224T |
possibly damaging |
Het |
| Tmc6 |
A |
T |
11: 117,663,868 (GRCm39) |
S479R |
possibly damaging |
Het |
| Tmprss4 |
T |
C |
9: 45,087,702 (GRCm39) |
M296V |
probably benign |
Het |
| Togaram1 |
A |
G |
12: 65,013,894 (GRCm39) |
N382D |
possibly damaging |
Het |
| Tpcn1 |
A |
G |
5: 120,677,322 (GRCm39) |
S662P |
probably damaging |
Het |
| Tppp |
G |
T |
13: 74,178,983 (GRCm39) |
R141S |
probably benign |
Het |
| Ttc21a |
A |
G |
9: 119,790,828 (GRCm39) |
D858G |
possibly damaging |
Het |
| Tuba3a |
A |
G |
6: 125,258,130 (GRCm39) |
S287P |
possibly damaging |
Het |
| Unc80 |
T |
G |
1: 66,710,821 (GRCm39) |
S2697A |
probably benign |
Het |
| Vmn1r69 |
A |
G |
7: 10,314,026 (GRCm39) |
V235A |
probably benign |
Het |
| Vmn2r26 |
T |
A |
6: 124,038,375 (GRCm39) |
I650N |
probably damaging |
Het |
| Vmn2r53 |
G |
A |
7: 12,315,932 (GRCm39) |
T629I |
possibly damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,555 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn2r84 |
A |
T |
10: 130,229,973 (GRCm39) |
C46* |
probably null |
Het |
| Vps13b |
T |
C |
15: 35,770,835 (GRCm39) |
S2093P |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,711,893 (GRCm39) |
R2375G |
probably damaging |
Het |
| Wnk2 |
T |
G |
13: 49,210,359 (GRCm39) |
E1820A |
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 |
|
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 |
|
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'- ACAGCTTTGTGACTCATGGCTG -3'
(R):5'- GAAACCAGGCACCTTGATGG -3'
Sequencing Primer
(F):5'- TGACTCATGGCTGCACCGTAG -3'
(R):5'- TCAGGGCTGACGTGGCTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation