Incidental Mutation 'R2124:Rasgrp2'
ID |
229708 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp2
|
Ensembl Gene |
ENSMUSG00000032946 |
Gene Name |
RAS, guanyl releasing protein 2 |
Synonyms |
Caldaggef1, CalDAG-GEFI |
MMRRC Submission |
040127-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2124 (G1)
|
Quality Score |
225 |
Status
|
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]
[ENSMUST00000113476]
[ENSMUST00000138555]
[ENSMUST00000127021]
[ENSMUST00000139522]
[ENSMUST00000146601]
[ENSMUST00000113475]
[ENSMUST00000167240]
[ENSMUST00000146831]
[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 |
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 |
noncoding transcript
Transcript: ENSMUST00000123661
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122930
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133968
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135532
|
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: ENSMUST00000113475
|
SMART Domains |
Protein: ENSMUSP00000109103 Gene: ENSMUSG00000032946
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
7.2e-31 |
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 |
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: ENSMUST00000149205
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148906
|
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: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (80/82) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
A |
4: 62,457,109 (GRCm39) |
L143M |
possibly damaging |
Het |
Abca13 |
T |
C |
11: 9,259,013 (GRCm39) |
|
probably benign |
Het |
Abcg5 |
T |
A |
17: 84,978,575 (GRCm39) |
E294D |
probably benign |
Het |
Adgrg6 |
T |
C |
10: 14,342,930 (GRCm39) |
D339G |
probably damaging |
Het |
Ahctf1 |
C |
A |
1: 179,597,017 (GRCm39) |
R43L |
probably damaging |
Het |
Ambn |
T |
A |
5: 88,608,617 (GRCm39) |
|
probably benign |
Het |
Arap3 |
A |
C |
18: 38,106,403 (GRCm39) |
L1480R |
probably damaging |
Het |
Arhgef10 |
A |
G |
8: 14,984,820 (GRCm39) |
D200G |
probably damaging |
Het |
Aspg |
G |
A |
12: 112,087,608 (GRCm39) |
V8I |
probably benign |
Het |
Aven |
T |
A |
2: 112,455,541 (GRCm39) |
W26R |
probably damaging |
Het |
Car4 |
T |
A |
11: 84,854,911 (GRCm39) |
|
probably benign |
Het |
Cd163 |
C |
T |
6: 124,295,815 (GRCm39) |
R720C |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,390,842 (GRCm39) |
I653V |
probably benign |
Het |
Cdh3 |
A |
T |
8: 107,279,520 (GRCm39) |
H712L |
probably damaging |
Het |
Cdr2 |
T |
C |
7: 120,581,250 (GRCm39) |
E9G |
probably damaging |
Het |
Cfap47 |
T |
C |
X: 78,553,927 (GRCm39) |
I267V |
probably benign |
Het |
Chrnb2 |
T |
C |
3: 89,676,648 (GRCm39) |
|
probably benign |
Het |
Col4a2 |
C |
A |
8: 11,466,070 (GRCm39) |
P443Q |
probably damaging |
Het |
Cyp2a12 |
A |
G |
7: 26,736,071 (GRCm39) |
*493W |
probably null |
Het |
Ddias |
T |
C |
7: 92,507,464 (GRCm39) |
Q817R |
probably benign |
Het |
Ddx6 |
C |
T |
9: 44,535,816 (GRCm39) |
Q182* |
probably null |
Het |
Dhrs7 |
A |
G |
12: 72,699,951 (GRCm39) |
I227T |
probably damaging |
Het |
Dhx8 |
A |
T |
11: 101,653,071 (GRCm39) |
M970L |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,536,101 (GRCm39) |
D2647E |
possibly damaging |
Het |
Dstyk |
G |
A |
1: 132,380,857 (GRCm39) |
G451R |
possibly damaging |
Het |
Ednrb |
T |
A |
14: 104,059,204 (GRCm39) |
D274V |
probably benign |
Het |
Efl1 |
C |
T |
7: 82,342,121 (GRCm39) |
R510C |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,912,053 (GRCm39) |
E1409G |
probably damaging |
Het |
Fam78b |
G |
A |
1: 166,906,278 (GRCm39) |
V146M |
probably damaging |
Het |
Fcgbp |
T |
C |
7: 27,791,444 (GRCm39) |
Y902H |
probably benign |
Het |
Fgf18 |
A |
C |
11: 33,068,003 (GRCm39) |
F129C |
probably damaging |
Het |
Gbp9 |
T |
A |
5: 105,242,409 (GRCm39) |
D110V |
probably damaging |
Het |
Gm10477 |
A |
G |
X: 55,570,192 (GRCm39) |
K31E |
probably damaging |
Het |
Gm10542 |
T |
A |
18: 44,334,355 (GRCm39) |
W9R |
probably null |
Het |
Gpaa1 |
A |
G |
15: 76,217,552 (GRCm39) |
Y330C |
probably damaging |
Het |
Hectd4 |
T |
C |
5: 121,456,702 (GRCm39) |
L689P |
probably damaging |
Het |
Hoxd3 |
C |
A |
2: 74,574,578 (GRCm39) |
P75T |
possibly damaging |
Het |
Ikbkb |
A |
G |
8: 23,156,036 (GRCm39) |
L570P |
probably damaging |
Het |
Ikbkb |
T |
C |
8: 23,157,233 (GRCm39) |
|
probably benign |
Het |
Il1rap |
A |
T |
16: 26,529,315 (GRCm39) |
H379L |
probably damaging |
Het |
Ints6l |
T |
A |
X: 55,550,228 (GRCm39) |
S718T |
probably benign |
Het |
Jaml |
T |
A |
9: 45,012,362 (GRCm39) |
I283N |
probably damaging |
Het |
Kidins220 |
G |
A |
12: 25,091,302 (GRCm39) |
|
probably null |
Het |
Kif1b |
T |
C |
4: 149,306,753 (GRCm39) |
D869G |
probably benign |
Het |
Loxl2 |
T |
C |
14: 69,929,859 (GRCm39) |
Y746H |
probably benign |
Het |
Ltbr |
A |
G |
6: 125,286,440 (GRCm39) |
S249P |
probably benign |
Het |
Mageb5 |
A |
G |
X: 90,823,701 (GRCm39) |
I226T |
probably damaging |
Het |
Msantd2 |
C |
T |
9: 37,434,227 (GRCm39) |
R357W |
probably damaging |
Het |
Mtcl2 |
T |
C |
2: 156,875,245 (GRCm39) |
E835G |
probably damaging |
Het |
Neb |
A |
G |
2: 52,154,076 (GRCm39) |
F2345S |
probably damaging |
Het |
Or7e173 |
T |
G |
9: 19,938,797 (GRCm39) |
I146L |
probably benign |
Het |
Pabpc4l |
T |
C |
3: 46,401,276 (GRCm39) |
T123A |
probably benign |
Het |
Plekhg4 |
TAGTCGATGCCCGAGTC |
TAGTC |
8: 106,103,084 (GRCm39) |
|
probably benign |
Het |
Prkdc |
T |
C |
16: 15,537,297 (GRCm39) |
V1716A |
probably benign |
Het |
Prss37 |
G |
A |
6: 40,492,294 (GRCm39) |
R186* |
probably null |
Het |
Psg20 |
T |
A |
7: 18,414,947 (GRCm39) |
Y316F |
probably benign |
Het |
Rims1 |
T |
A |
1: 22,474,732 (GRCm39) |
R200* |
probably null |
Het |
Rnf168 |
T |
G |
16: 32,097,036 (GRCm39) |
L37R |
probably damaging |
Het |
Sall3 |
C |
T |
18: 81,015,012 (GRCm39) |
G972D |
probably benign |
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 |
Sdk1 |
C |
A |
5: 142,170,943 (GRCm39) |
D1935E |
possibly damaging |
Het |
Setd2 |
A |
G |
9: 110,378,932 (GRCm39) |
S632G |
probably benign |
Het |
Syt16 |
T |
A |
12: 74,285,009 (GRCm39) |
S401T |
probably damaging |
Het |
Tas2r106 |
A |
T |
6: 131,655,317 (GRCm39) |
L178H |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,494,146 (GRCm39) |
Y983C |
probably damaging |
Het |
Tenm3 |
A |
G |
8: 48,870,041 (GRCm39) |
|
probably null |
Het |
Tll1 |
T |
C |
8: 64,538,591 (GRCm39) |
E351G |
probably benign |
Het |
Tmem44 |
T |
A |
16: 30,366,262 (GRCm39) |
K55* |
probably null |
Het |
Top2a |
T |
C |
11: 98,895,054 (GRCm39) |
I849V |
probably benign |
Het |
Ttn |
A |
G |
2: 76,624,792 (GRCm39) |
V13516A |
probably damaging |
Het |
Uxs1 |
A |
G |
1: 43,814,006 (GRCm39) |
L77P |
probably damaging |
Het |
Vmn2r121 |
A |
T |
X: 123,043,439 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
A |
C |
10: 130,227,100 (GRCm39) |
M246R |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,646,226 (GRCm39) |
N1443K |
probably benign |
Het |
Wfdc6b |
C |
T |
2: 164,459,363 (GRCm39) |
R142C |
probably benign |
Het |
Zfp616 |
A |
G |
11: 73,973,869 (GRCm39) |
|
probably null |
Het |
Zmym1 |
T |
C |
4: 126,943,363 (GRCm39) |
T244A |
probably benign |
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 |
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'- ATTTGATGAAACCGCCCAAC -3'
Sequencing Primer
(F):5'- CTCAAGTCAGTTTGAGTGGCATGTC -3'
(R):5'- ACACCAGGATCTTGCAGA -3'
|
Posted On |
2014-09-17 |