Incidental Mutation 'R2119:Rasgrp2'
| ID |
231328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp2
|
| Ensembl Gene |
ENSMUSG00000032946 |
| Gene Name |
RAS, guanyl releasing protein 2 |
| Synonyms |
Caldaggef1, CalDAG-GEFI |
| MMRRC Submission |
040123-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2119 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6449370-6465246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6454425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 156
(M156K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129873
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035716]
[ENSMUST00000113467]
[ENSMUST00000113468]
[ENSMUST00000113469]
[ENSMUST00000113471]
[ENSMUST00000113472]
[ENSMUST00000113475]
[ENSMUST00000113476]
[ENSMUST00000138555]
[ENSMUST00000146831]
[ENSMUST00000127021]
[ENSMUST00000139522]
[ENSMUST00000146601]
[ENSMUST00000167240]
[ENSMUST00000150713]
|
| AlphaFold |
Q9QUG9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035716
AA Change: M156K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: M156K
| 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: ENSMUST00000130480
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113476
AA Change: M156K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: M156K
| 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
AA Change: M156K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946
AA Change: M156K
| 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
AA Change: M156K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000120630
Gene: ENSMUSG00000032946
AA Change: M156K
| Domain | Start | End | E-Value | Type |
|---|
|
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123661
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122930
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135532
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145611
|
| 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: 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: ENSMUST00000167240
AA Change: M156K
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: M156K
| 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 |
noncoding transcript
Transcript: ENSMUST00000152022
|
| 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 |
0.0773 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
A |
4: 62,457,109 (GRCm39) |
L143M |
possibly damaging |
Het |
| Actbl2 |
G |
A |
13: 111,391,694 (GRCm39) |
V10I |
probably benign |
Het |
| Adamts12 |
C |
T |
15: 11,310,665 (GRCm39) |
T974I |
probably damaging |
Het |
| Aifm2 |
G |
A |
10: 61,571,383 (GRCm39) |
V306M |
possibly damaging |
Het |
| Arhgef38 |
T |
C |
3: 132,866,514 (GRCm39) |
K208E |
probably benign |
Het |
| Atxn7l3 |
C |
A |
11: 102,182,807 (GRCm39) |
R278L |
possibly damaging |
Het |
| Bcl9 |
A |
G |
3: 97,116,231 (GRCm39) |
L821P |
probably benign |
Het |
| Cdh19 |
C |
T |
1: 110,847,320 (GRCm39) |
V430I |
probably benign |
Het |
| Clns1a |
T |
A |
7: 97,363,111 (GRCm39) |
|
probably null |
Het |
| Col3a1 |
T |
A |
1: 45,385,281 (GRCm39) |
C133S |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 17,266,749 (GRCm39) |
T59I |
probably damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
| Cyp2j8 |
A |
T |
4: 96,395,438 (GRCm39) |
D62E |
probably benign |
Het |
| Dcbld1 |
A |
T |
10: 52,196,075 (GRCm39) |
M428L |
probably benign |
Het |
| Dhx32 |
A |
T |
7: 133,323,976 (GRCm39) |
Y523* |
probably null |
Het |
| Dlgap2 |
C |
T |
8: 14,828,206 (GRCm39) |
A538V |
possibly damaging |
Het |
| Dlgap3 |
T |
C |
4: 127,129,982 (GRCm39) |
S919P |
probably benign |
Het |
| Dmd |
G |
C |
X: 83,356,089 (GRCm39) |
A2257P |
probably benign |
Het |
| Dsc1 |
A |
T |
18: 20,243,209 (GRCm39) |
H81Q |
probably benign |
Het |
| Dusp8 |
A |
T |
7: 141,636,298 (GRCm39) |
S431T |
possibly damaging |
Het |
| Dync1i1 |
A |
T |
6: 5,767,096 (GRCm39) |
T59S |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,075,997 (GRCm39) |
S727P |
probably damaging |
Het |
| Ednrb |
T |
A |
14: 104,059,204 (GRCm39) |
D274V |
probably benign |
Het |
| Eef1d |
G |
T |
15: 75,775,062 (GRCm39) |
A199E |
probably benign |
Het |
| Eml3 |
T |
A |
19: 8,911,718 (GRCm39) |
|
probably null |
Het |
| Enah |
G |
T |
1: 181,749,318 (GRCm39) |
A138E |
probably damaging |
Het |
| Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
| Gba1 |
A |
T |
3: 89,112,868 (GRCm39) |
E170V |
probably benign |
Het |
| Hdac1 |
C |
T |
4: 129,416,157 (GRCm39) |
R212Q |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,447,527 (GRCm39) |
L1740Q |
probably null |
Het |
| Inhbb |
T |
A |
1: 119,348,431 (GRCm39) |
H129L |
probably benign |
Het |
| Inpp5b |
T |
A |
4: 124,691,662 (GRCm39) |
H862Q |
probably benign |
Het |
| Itsn2 |
C |
A |
12: 4,757,025 (GRCm39) |
R1372S |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
| Klk1b21 |
A |
T |
7: 43,755,193 (GRCm39) |
T163S |
probably benign |
Het |
| Lmo3 |
A |
T |
6: 138,393,492 (GRCm39) |
C43S |
probably damaging |
Het |
| Metrn |
C |
T |
17: 26,014,197 (GRCm39) |
V210I |
probably benign |
Het |
| Ndufaf7 |
A |
T |
17: 79,252,442 (GRCm39) |
I284F |
possibly damaging |
Het |
| Nlrp6 |
T |
C |
7: 140,506,357 (GRCm39) |
V766A |
probably benign |
Het |
| Or10a5 |
A |
G |
7: 106,635,938 (GRCm39) |
D192G |
probably damaging |
Het |
| Osbpl7 |
T |
C |
11: 96,946,905 (GRCm39) |
S403P |
probably benign |
Het |
| Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
| Pde6d |
A |
G |
1: 86,473,524 (GRCm39) |
F91L |
probably benign |
Het |
| Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,006,422 (GRCm39) |
S263T |
possibly damaging |
Het |
| Pum1 |
C |
A |
4: 130,396,581 (GRCm39) |
T112K |
possibly damaging |
Het |
| Reln |
T |
A |
5: 22,223,998 (GRCm39) |
E917V |
probably damaging |
Het |
| Rfc4 |
A |
T |
16: 22,943,314 (GRCm39) |
V61E |
probably damaging |
Het |
| Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
| Rpe |
T |
C |
1: 66,754,387 (GRCm39) |
M153T |
probably damaging |
Het |
| Rtn4ip1 |
A |
G |
10: 43,811,993 (GRCm39) |
|
probably null |
Het |
| Sap18 |
T |
A |
14: 58,036,011 (GRCm39) |
S66T |
probably damaging |
Het |
| Scamp5 |
C |
A |
9: 57,354,508 (GRCm39) |
V49F |
possibly damaging |
Het |
| Serhl |
A |
G |
15: 82,999,776 (GRCm39) |
Q252R |
probably benign |
Het |
| Sestd1 |
T |
C |
2: 77,042,867 (GRCm39) |
D229G |
probably benign |
Het |
| Slc35g1 |
T |
C |
19: 38,391,735 (GRCm39) |
V339A |
probably benign |
Het |
| Slc9b2 |
T |
A |
3: 135,034,743 (GRCm39) |
|
probably null |
Het |
| Stk40 |
C |
T |
4: 126,022,640 (GRCm39) |
T138I |
probably benign |
Het |
| Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
| Tep1 |
T |
G |
14: 51,076,443 (GRCm39) |
K1664Q |
probably benign |
Het |
| Tmod2 |
T |
C |
9: 75,493,377 (GRCm39) |
K193E |
possibly damaging |
Het |
| Trak1 |
T |
A |
9: 121,302,063 (GRCm39) |
*940R |
probably null |
Het |
| Ttc5 |
A |
T |
14: 51,012,822 (GRCm39) |
Y189N |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,484,430 (GRCm39) |
M198K |
probably damaging |
Het |
| Uox |
A |
G |
3: 146,318,297 (GRCm39) |
H66R |
probably benign |
Het |
| Usp9y |
A |
T |
Y: 1,303,451 (GRCm39) |
D2487E |
probably benign |
Het |
| Vnn3 |
G |
A |
10: 23,740,311 (GRCm39) |
G205R |
probably damaging |
Het |
| Vps11 |
T |
C |
9: 44,260,294 (GRCm39) |
D856G |
probably benign |
Het |
| Zdhhc17 |
T |
C |
10: 110,817,909 (GRCm39) |
N90D |
possibly damaging |
Het |
| Zfp105 |
T |
A |
9: 122,758,743 (GRCm39) |
L138* |
probably null |
Het |
| Zfp28 |
A |
G |
7: 6,397,875 (GRCm39) |
Y770C |
probably benign |
Het |
| Zfp655 |
T |
A |
5: 145,181,594 (GRCm39) |
L484Q |
probably damaging |
Het |
| Zfp868 |
C |
A |
8: 70,064,646 (GRCm39) |
E230* |
probably null |
Het |
| Zfpm2 |
A |
G |
15: 40,966,419 (GRCm39) |
Y836C |
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 |
|
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 |
|
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'- ACTGCTTAGGATGGTGGCTC -3'
(R):5'- TCATTTGATGAAACCGCCCAAC -3'
Sequencing Primer
(F):5'- CTCAAGTCAGTTTGAGTGGCATGTC -3'
(R):5'- ACACCAGGATCTTGCAGA -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation