Incidental Mutation 'R5320:Rasgrp2'
ID |
406093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp2
|
Ensembl Gene |
ENSMUSG00000032946 |
Gene Name |
RAS, guanyl releasing protein 2 |
Synonyms |
Caldaggef1, CalDAG-GEFI |
MMRRC Submission |
042903-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5320 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
6449370-6465246 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 6458864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035716]
[ENSMUST00000035716]
[ENSMUST00000113476]
[ENSMUST00000113476]
[ENSMUST00000127021]
[ENSMUST00000167240]
[ENSMUST00000167240]
[ENSMUST00000139522]
[ENSMUST00000138555]
[ENSMUST00000146831]
|
AlphaFold |
Q9QUG9 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000124118
|
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 |
noncoding transcript
Transcript: ENSMUST00000130480
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135532
|
Predicted Effect |
probably null
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 null
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 |
noncoding transcript
Transcript: ENSMUST00000149205
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148906
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152022
|
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: 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 |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.8%
- 20x: 96.4%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
T |
17: 24,526,541 (GRCm39) |
I581N |
probably damaging |
Het |
Abcb10 |
A |
G |
8: 124,697,763 (GRCm39) |
F187S |
probably benign |
Het |
Actl11 |
T |
A |
9: 107,808,203 (GRCm39) |
V842E |
possibly damaging |
Het |
Akap12 |
A |
G |
10: 4,307,291 (GRCm39) |
D1367G |
probably benign |
Het |
Aoc1l1 |
T |
A |
6: 48,952,474 (GRCm39) |
L133Q |
probably damaging |
Het |
Aoc1l3 |
T |
A |
6: 48,964,509 (GRCm39) |
F172L |
probably benign |
Het |
AU040320 |
A |
T |
4: 126,717,509 (GRCm39) |
H362L |
possibly damaging |
Het |
Bmpr1a |
C |
T |
14: 34,146,999 (GRCm39) |
V258M |
probably damaging |
Het |
Bptf |
T |
A |
11: 106,972,193 (GRCm39) |
K892* |
probably null |
Het |
Cap2 |
A |
G |
13: 46,801,840 (GRCm39) |
*422W |
probably null |
Het |
Cars2 |
G |
T |
8: 11,567,854 (GRCm39) |
H414N |
probably benign |
Het |
Ccnt1 |
A |
C |
15: 98,442,124 (GRCm39) |
S381R |
probably benign |
Het |
Cdyl2 |
A |
T |
8: 117,321,794 (GRCm39) |
C244* |
probably null |
Het |
Cers2 |
A |
G |
3: 95,228,305 (GRCm39) |
E115G |
probably null |
Het |
Cpt1b |
G |
A |
15: 89,303,477 (GRCm39) |
P553S |
probably benign |
Het |
Cuedc1 |
A |
G |
11: 88,068,136 (GRCm39) |
E128G |
probably damaging |
Het |
Dll4 |
T |
A |
2: 119,156,968 (GRCm39) |
V80D |
probably damaging |
Het |
Dop1b |
T |
C |
16: 93,536,874 (GRCm39) |
L113P |
probably damaging |
Het |
Fam98a |
A |
G |
17: 75,845,810 (GRCm39) |
I312T |
probably damaging |
Het |
Gnrhr |
T |
G |
5: 86,345,473 (GRCm39) |
K71T |
possibly damaging |
Het |
Gtf3c3 |
A |
T |
1: 54,445,032 (GRCm39) |
L674Q |
probably damaging |
Het |
Hipk2 |
A |
T |
6: 38,795,212 (GRCm39) |
H352Q |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,313,115 (GRCm39) |
V1785A |
probably damaging |
Het |
Hspa4 |
A |
T |
11: 53,153,810 (GRCm39) |
I687N |
probably damaging |
Het |
Krt18 |
A |
T |
15: 101,936,955 (GRCm39) |
D81V |
probably damaging |
Het |
Lama3 |
A |
C |
18: 12,685,912 (GRCm39) |
D1142A |
probably damaging |
Het |
Lnpep |
A |
G |
17: 17,766,727 (GRCm39) |
I713T |
possibly damaging |
Het |
Man2b2 |
T |
A |
5: 36,967,677 (GRCm39) |
Y897F |
probably damaging |
Het |
Muc5b |
A |
T |
7: 141,412,738 (GRCm39) |
I1895F |
unknown |
Het |
Myh8 |
G |
A |
11: 67,177,089 (GRCm39) |
V414I |
probably damaging |
Het |
Myo1d |
A |
T |
11: 80,575,149 (GRCm39) |
|
probably null |
Het |
Nav2 |
A |
T |
7: 49,141,121 (GRCm39) |
M889L |
probably benign |
Het |
Oc90 |
C |
T |
15: 65,754,457 (GRCm39) |
G236D |
probably benign |
Het |
Or13a27 |
A |
G |
7: 139,925,548 (GRCm39) |
V118A |
probably benign |
Het |
Pak4 |
A |
G |
7: 28,267,631 (GRCm39) |
I11T |
probably damaging |
Het |
Papss2 |
T |
C |
19: 32,615,787 (GRCm39) |
I173T |
probably damaging |
Het |
Pcsk9 |
A |
T |
4: 106,320,988 (GRCm39) |
D40E |
probably benign |
Het |
Pdzrn3 |
G |
C |
6: 101,128,064 (GRCm39) |
H867Q |
probably damaging |
Het |
Plcb1 |
A |
T |
2: 135,094,696 (GRCm39) |
I174F |
possibly damaging |
Het |
Pom121l2 |
G |
A |
13: 22,166,015 (GRCm39) |
W95* |
probably null |
Het |
Prcp |
A |
T |
7: 92,577,843 (GRCm39) |
T336S |
probably benign |
Het |
Prdm11 |
A |
C |
2: 92,843,226 (GRCm39) |
S78A |
probably benign |
Het |
Ralgds |
T |
C |
2: 28,435,224 (GRCm39) |
I405T |
probably damaging |
Het |
Rasgrf1 |
A |
G |
9: 89,902,478 (GRCm39) |
R1208G |
probably damaging |
Het |
Rb1 |
A |
T |
14: 73,450,566 (GRCm39) |
Y599* |
probably null |
Het |
Rnf141 |
A |
T |
7: 110,433,010 (GRCm39) |
F62L |
probably damaging |
Het |
Rsl24d1 |
T |
A |
9: 73,023,698 (GRCm39) |
F292I |
possibly damaging |
Het |
Scn10a |
C |
T |
9: 119,477,175 (GRCm39) |
V736I |
probably damaging |
Het |
Sim2 |
A |
T |
16: 93,905,598 (GRCm39) |
T141S |
probably benign |
Het |
Slc6a15 |
G |
T |
10: 103,244,067 (GRCm39) |
V436L |
probably damaging |
Het |
Smarca2 |
T |
C |
19: 26,668,772 (GRCm39) |
S924P |
probably damaging |
Het |
Tacc1 |
T |
C |
8: 25,671,881 (GRCm39) |
E449G |
probably benign |
Het |
Tlr3 |
A |
T |
8: 45,852,137 (GRCm39) |
N253K |
possibly damaging |
Het |
Tmem198 |
G |
A |
1: 75,456,500 (GRCm39) |
A82T |
probably benign |
Het |
Tom1l2 |
A |
T |
11: 60,133,648 (GRCm39) |
L54* |
probably null |
Het |
Trav12-2 |
A |
G |
14: 53,854,356 (GRCm39) |
Y110C |
probably benign |
Het |
Trdn |
T |
A |
10: 33,209,247 (GRCm39) |
|
probably null |
Het |
Trim36 |
G |
T |
18: 46,300,565 (GRCm39) |
P690Q |
probably damaging |
Het |
Trpc4 |
A |
T |
3: 54,206,599 (GRCm39) |
M600L |
probably damaging |
Het |
Trpm2 |
T |
A |
10: 77,759,355 (GRCm39) |
Q1143L |
probably benign |
Het |
Usp34 |
T |
A |
11: 23,283,739 (GRCm39) |
D144E |
probably benign |
Het |
Vps18 |
A |
T |
2: 119,127,858 (GRCm39) |
R894* |
probably null |
Het |
Vwa1 |
A |
G |
4: 155,855,369 (GRCm39) |
V248A |
probably benign |
Het |
Wdr75 |
T |
C |
1: 45,838,211 (GRCm39) |
V40A |
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 |
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'- ATGCCAGTGCTAACCATCCC -3'
(R):5'- TTCTCTTTGCCAGGCTCAGG -3'
Sequencing Primer
(F):5'- GTGCTAACCATCCCCAGCAG -3'
(R):5'- TCTAGGACTGGCAGCTTCC -3'
|
Posted On |
2016-07-22 |