Incidental Mutation 'R9725:Rasgrp2'
| ID |
731010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp2
|
| Ensembl Gene |
ENSMUSG00000032946 |
| Gene Name |
RAS, guanyl releasing protein 2 |
| Synonyms |
Caldaggef1, CalDAG-GEFI |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
6449370-6465246 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6454694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 178
(Y178C)
|
| 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: Y178C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000041135
Gene: ENSMUSG00000032946
AA Change: Y178C
| 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: Y178C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109104
Gene: ENSMUSG00000032946
AA Change: Y178C
| 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: Y178C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121635
Gene: ENSMUSG00000032946
AA Change: Y178C
| 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: Y178C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129873
Gene: ENSMUSG00000032946
AA Change: Y178C
| 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: 99.6%
- 20x: 98.5%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
T |
G |
16: 14,290,797 (GRCm39) |
I1469S |
possibly damaging |
Het |
| Aff1 |
A |
T |
5: 103,994,931 (GRCm39) |
D1043V |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,991,607 (GRCm39) |
I4297N |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,981,533 (GRCm39) |
N939S |
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,634 (GRCm39) |
N465S |
possibly damaging |
Het |
| Carns1 |
A |
G |
19: 4,216,548 (GRCm39) |
S545P |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,432,561 (GRCm39) |
Q121L |
probably benign |
Het |
| Cfap221 |
G |
T |
1: 119,862,352 (GRCm39) |
Q577K |
probably benign |
Het |
| Dlg1 |
T |
G |
16: 31,665,683 (GRCm39) |
L680R |
probably benign |
Het |
| Fahd2a |
T |
C |
2: 127,278,304 (GRCm39) |
E301G |
probably benign |
Het |
| Fn3k |
T |
A |
11: 121,341,191 (GRCm39) |
L282H |
probably damaging |
Het |
| Fubp1 |
T |
A |
3: 151,927,823 (GRCm39) |
I424N |
probably damaging |
Het |
| Gkn1 |
A |
G |
6: 87,323,289 (GRCm39) |
S175P |
probably damaging |
Het |
| Gm12695 |
A |
G |
4: 96,616,466 (GRCm39) |
S456P |
probably damaging |
Het |
| Kcna5 |
T |
C |
6: 126,511,844 (GRCm39) |
T95A |
probably benign |
Het |
| Kcnj13 |
G |
T |
1: 87,314,737 (GRCm39) |
T83K |
probably benign |
Het |
| Kif19b |
G |
A |
5: 140,460,651 (GRCm39) |
R439H |
probably benign |
Het |
| Klra10 |
C |
T |
6: 130,252,849 (GRCm39) |
G142R |
probably benign |
Het |
| Krt14 |
T |
C |
11: 100,097,902 (GRCm39) |
N127S |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,968,775 (GRCm39) |
M323V |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,901,147 (GRCm39) |
D484G |
probably benign |
Het |
| Lrrtm2 |
A |
G |
18: 35,345,788 (GRCm39) |
C505R |
probably damaging |
Het |
| Ms4a14 |
A |
T |
19: 11,280,729 (GRCm39) |
S610T |
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,856,841 (GRCm39) |
N1282S |
probably benign |
Het |
| Naip5 |
A |
T |
13: 100,358,784 (GRCm39) |
D817E |
possibly damaging |
Het |
| Ndufs2 |
A |
G |
1: 171,074,629 (GRCm39) |
L10P |
possibly damaging |
Het |
| Nxn |
T |
C |
11: 76,169,362 (GRCm39) |
D139G |
probably damaging |
Het |
| Or3a1b |
A |
G |
11: 74,012,612 (GRCm39) |
T166A |
probably benign |
Het |
| Or5b105 |
G |
A |
19: 13,080,272 (GRCm39) |
T132I |
possibly damaging |
Het |
| Or6aa1 |
A |
C |
7: 86,043,973 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pcdhb22 |
G |
T |
18: 37,652,794 (GRCm39) |
V164F |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,084,992 (GRCm39) |
T417A |
probably damaging |
Het |
| Prcp |
G |
T |
7: 92,567,035 (GRCm39) |
|
probably null |
Het |
| Rgs20 |
G |
T |
1: 4,980,793 (GRCm39) |
Y208* |
probably null |
Het |
| Slc39a10 |
A |
G |
1: 46,849,223 (GRCm39) |
C798R |
probably damaging |
Het |
| Slco2b1 |
A |
G |
7: 99,335,265 (GRCm39) |
S172P |
probably benign |
Het |
| Styk1 |
GTCTCTTCATGATT |
GT |
6: 131,278,610 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Tmc2 |
T |
A |
2: 130,089,881 (GRCm39) |
I622N |
probably damaging |
Het |
| Trav16n |
A |
G |
14: 53,588,559 (GRCm39) |
S5G |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,849,304 (GRCm39) |
R645H |
probably benign |
Het |
| Ttll3 |
A |
G |
6: 113,386,114 (GRCm39) |
D649G |
probably damaging |
Het |
| Vcam1 |
C |
T |
3: 115,922,287 (GRCm39) |
V79I |
possibly damaging |
Het |
| Vmn1r211 |
T |
C |
13: 23,036,506 (GRCm39) |
I54V |
probably benign |
Het |
| Vmn1r238 |
A |
G |
18: 3,122,577 (GRCm39) |
F279S |
probably benign |
Het |
| Vps33a |
A |
T |
5: 123,669,135 (GRCm39) |
W589R |
possibly damaging |
Het |
| Zic1 |
A |
G |
9: 91,246,875 (GRCm39) |
S66P |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCAAGATCCTGGTGTGG -3'
(R):5'- AGCGTGTTGAAGTTCTGCAGC -3'
Sequencing Primer
(F):5'- AAGATCCTGGTGTGGCCTGAAG -3'
(R):5'- CTTGATAGACACGCGGAGGC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation