Incidental Mutation 'R8897:Rasgrp2'
ID |
678141 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp2
|
Ensembl Gene |
ENSMUSG00000032946 |
Gene Name |
RAS, guanyl releasing protein 2 |
Synonyms |
Caldaggef1, CalDAG-GEFI |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8897 (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 6453100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 75
(T75A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035269]
[ENSMUST00000035716]
[ENSMUST00000113467]
[ENSMUST00000113468]
[ENSMUST00000113469]
[ENSMUST00000113471]
[ENSMUST00000113472]
[ENSMUST00000113475]
[ENSMUST00000113476]
[ENSMUST00000113483]
[ENSMUST00000127021]
[ENSMUST00000138555]
[ENSMUST00000139522]
[ENSMUST00000146601]
[ENSMUST00000146831]
[ENSMUST00000150713]
[ENSMUST00000167240]
|
AlphaFold |
Q9QUG9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035269
|
SMART Domains |
Protein: ENSMUSP00000047564 Gene: ENSMUSG00000032648
Domain | Start | End | E-Value | Type |
Pfam:Phosphorylase
|
113 |
829 |
N/A |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035716
AA Change: T75A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000041135 Gene: ENSMUSG00000032946 AA Change: T75A
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 |
possibly damaging
Transcript: ENSMUST00000113467
AA Change: N38S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109095 Gene: ENSMUSG00000032946 AA Change: N38S
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
3 |
24 |
9e-8 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113468
AA Change: T75A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000109096 Gene: ENSMUSG00000032946 AA Change: T75A
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
97 |
1.93e-7 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000113469
AA Change: N48S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000109097 Gene: ENSMUSG00000032946 AA Change: N48S
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
3 |
24 |
1e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113471
AA Change: T75A
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109099 Gene: ENSMUSG00000032946 AA Change: T75A
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
7.2e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113472
AA Change: T75A
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109100 Gene: ENSMUSG00000032946 AA Change: T75A
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
7.2e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113475
AA Change: T75A
PolyPhen 2
Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109103 Gene: ENSMUSG00000032946 AA Change: T75A
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
7.2e-31 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113476
AA Change: T75A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000109104 Gene: ENSMUSG00000032946 AA Change: T75A
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: ENSMUST00000113483
|
SMART Domains |
Protein: ENSMUSP00000109111 Gene: ENSMUSG00000032648
Domain | Start | End | E-Value | Type |
Pfam:Phosphorylase
|
62 |
742 |
N/A |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000127021
AA Change: N48S
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000119740 Gene: ENSMUSG00000032946 AA Change: N48S
Domain | Start | End | E-Value | Type |
Blast:RasGEFN
|
3 |
24 |
1e-7 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138555
AA Change: T75A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000121635 Gene: ENSMUSG00000032946 AA Change: T75A
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
AA Change: T75A
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000123036 Gene: ENSMUSG00000032946 AA Change: T75A
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
AA Change: T75A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000120630 Gene: ENSMUSG00000032946 AA Change: T75A
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
126 |
3.56e-29 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000120949 Gene: ENSMUSG00000032946 AA Change: T75A
Domain | Start | End | E-Value | Type |
RasGEFN
|
3 |
95 |
6.73e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167240
AA Change: T75A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000129873 Gene: ENSMUSG00000032946 AA Change: T75A
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: 99.7%
- 20x: 98.9%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,635,934 (GRCm39) |
L329Q |
probably damaging |
Het |
Adam26b |
A |
T |
8: 43,974,009 (GRCm39) |
M331K |
possibly damaging |
Het |
Ak3 |
T |
C |
19: 29,025,118 (GRCm39) |
S38G |
probably damaging |
Het |
Ankrd10 |
A |
T |
8: 11,665,788 (GRCm39) |
C271S |
possibly damaging |
Het |
Ap1s3 |
A |
G |
1: 79,601,494 (GRCm39) |
Y66H |
probably damaging |
Het |
Ap4b1 |
A |
T |
3: 103,729,065 (GRCm39) |
I736L |
probably benign |
Het |
Arpp19 |
T |
A |
9: 74,963,948 (GRCm39) |
M67K |
possibly damaging |
Het |
Brf1 |
T |
G |
12: 112,951,589 (GRCm39) |
H130P |
probably damaging |
Het |
Cacna1s |
C |
G |
1: 136,045,392 (GRCm39) |
T1680S |
probably benign |
Het |
Cckar |
C |
T |
5: 53,864,583 (GRCm39) |
|
probably benign |
Het |
Cd93 |
T |
C |
2: 148,283,532 (GRCm39) |
K605E |
probably benign |
Het |
Cdcp3 |
T |
C |
7: 130,867,566 (GRCm39) |
M1409T |
unknown |
Het |
Ces1h |
C |
T |
8: 94,080,093 (GRCm39) |
V474I |
unknown |
Het |
Cfap70 |
A |
T |
14: 20,493,669 (GRCm39) |
|
probably null |
Het |
Ch25h |
G |
A |
19: 34,452,441 (GRCm39) |
T29I |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 48,222,739 (GRCm39) |
T329S |
probably benign |
Het |
Cux1 |
T |
C |
5: 136,315,623 (GRCm39) |
N1139S |
probably damaging |
Het |
Cyp2j6 |
G |
T |
4: 96,414,087 (GRCm39) |
H393N |
probably benign |
Het |
Cyp8b1 |
C |
A |
9: 121,745,358 (GRCm39) |
|
probably benign |
Het |
Dchs2 |
T |
G |
3: 83,036,720 (GRCm39) |
L489R |
probably damaging |
Het |
Dip2a |
T |
C |
10: 76,110,098 (GRCm39) |
T1173A |
probably benign |
Het |
Exoc3l2 |
T |
G |
7: 19,203,931 (GRCm39) |
|
probably null |
Het |
Fastkd3 |
G |
A |
13: 68,732,303 (GRCm39) |
R208H |
probably damaging |
Het |
Fbxo16 |
C |
A |
14: 65,531,287 (GRCm39) |
R64S |
probably benign |
Het |
Frem3 |
A |
T |
8: 81,339,419 (GRCm39) |
I571F |
probably damaging |
Het |
Ftsj3 |
T |
A |
11: 106,144,602 (GRCm39) |
D129V |
probably damaging |
Het |
Gm6370 |
A |
G |
5: 146,430,447 (GRCm39) |
T211A |
probably benign |
Het |
Gpr171 |
A |
T |
3: 59,005,116 (GRCm39) |
S220T |
probably benign |
Het |
Gsta3 |
T |
C |
1: 21,330,370 (GRCm39) |
I124T |
probably benign |
Het |
Hydin |
A |
G |
8: 111,316,112 (GRCm39) |
I4335V |
probably benign |
Het |
Ift80 |
T |
C |
3: 68,857,809 (GRCm39) |
I279V |
probably benign |
Het |
Ighv1-13 |
T |
A |
12: 114,594,439 (GRCm39) |
M47K |
unknown |
Het |
Il22ra2 |
A |
G |
10: 19,507,401 (GRCm39) |
N138S |
probably damaging |
Het |
Impact |
A |
G |
18: 13,123,551 (GRCm39) |
D298G |
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,643,943 (GRCm39) |
|
probably null |
Het |
Kif5b |
T |
C |
18: 6,225,437 (GRCm39) |
N198D |
probably damaging |
Het |
Klhl36 |
A |
G |
8: 120,597,279 (GRCm39) |
T327A |
probably benign |
Het |
Lepr |
A |
G |
4: 101,649,233 (GRCm39) |
N878S |
probably damaging |
Het |
Lpxn |
T |
A |
19: 12,802,525 (GRCm39) |
F244L |
probably damaging |
Het |
Lrriq4 |
C |
A |
3: 30,709,807 (GRCm39) |
L384I |
probably damaging |
Het |
Ltbp4 |
A |
C |
7: 27,026,119 (GRCm39) |
I629S |
probably benign |
Het |
Lypd5 |
T |
C |
7: 24,051,015 (GRCm39) |
V42A |
probably benign |
Het |
Mc4r |
A |
G |
18: 66,992,304 (GRCm39) |
S270P |
probably damaging |
Het |
Mctp2 |
T |
G |
7: 71,909,311 (GRCm39) |
M1L |
probably benign |
Het |
Myh4 |
G |
A |
11: 67,137,362 (GRCm39) |
E528K |
possibly damaging |
Het |
Nes |
T |
A |
3: 87,886,653 (GRCm39) |
H1637Q |
possibly damaging |
Het |
Or4f7 |
T |
C |
2: 111,644,576 (GRCm39) |
D165G |
probably benign |
Het |
Or5g25 |
A |
T |
2: 85,478,187 (GRCm39) |
H159Q |
possibly damaging |
Het |
Or8b3b |
C |
T |
9: 38,584,147 (GRCm39) |
V198I |
probably damaging |
Het |
Pan3 |
T |
C |
5: 147,387,472 (GRCm39) |
M147T |
probably benign |
Het |
Pcdhga6 |
G |
T |
18: 37,841,642 (GRCm39) |
R454L |
probably benign |
Het |
Pdss2 |
A |
G |
10: 43,221,663 (GRCm39) |
S192G |
probably damaging |
Het |
Pld6 |
A |
T |
11: 59,678,382 (GRCm39) |
M27K |
probably benign |
Het |
Plec |
C |
T |
15: 76,057,598 (GRCm39) |
R4113H |
probably damaging |
Het |
Ptprk |
T |
C |
10: 28,467,953 (GRCm39) |
S1379P |
probably damaging |
Het |
Rapgef2 |
T |
C |
3: 79,019,566 (GRCm39) |
H35R |
probably damaging |
Het |
Rexo1 |
A |
G |
10: 80,378,437 (GRCm39) |
L1172P |
probably damaging |
Het |
Rfx7 |
C |
T |
9: 72,525,123 (GRCm39) |
S771L |
probably benign |
Het |
Rpap3 |
A |
G |
15: 97,585,998 (GRCm39) |
I331T |
probably benign |
Het |
Scn2a |
A |
G |
2: 65,546,002 (GRCm39) |
|
probably null |
Het |
Sec23ip |
T |
A |
7: 128,354,467 (GRCm39) |
V241D |
probably benign |
Het |
Sez6l |
C |
A |
5: 112,588,744 (GRCm39) |
Q656H |
possibly damaging |
Het |
Sh3gl2 |
A |
T |
4: 85,273,597 (GRCm39) |
I50L |
probably benign |
Het |
Tab2 |
T |
C |
10: 7,786,897 (GRCm39) |
D605G |
probably damaging |
Het |
Tas2r110 |
T |
A |
6: 132,845,374 (GRCm39) |
V135D |
probably damaging |
Het |
Thap12 |
T |
C |
7: 98,364,534 (GRCm39) |
M234T |
probably benign |
Het |
Trhr |
C |
A |
15: 44,060,736 (GRCm39) |
D85E |
probably benign |
Het |
Trim67 |
A |
G |
8: 125,552,718 (GRCm39) |
I607V |
probably benign |
Het |
Trpm4 |
C |
T |
7: 44,960,055 (GRCm39) |
C760Y |
probably benign |
Het |
Ttll9 |
T |
C |
2: 152,844,841 (GRCm39) |
V403A |
probably damaging |
Het |
Uhrf1 |
T |
C |
17: 56,617,817 (GRCm39) |
Y180H |
probably damaging |
Het |
Unc119b |
C |
T |
5: 115,272,977 (GRCm39) |
|
probably benign |
Het |
Vmn2r44 |
T |
A |
7: 8,381,242 (GRCm39) |
D217V |
probably damaging |
Het |
Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
Zscan4-ps3 |
A |
T |
7: 11,346,767 (GRCm39) |
R268* |
probably null |
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 |
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'- TGGTGAAATCCAACCCTCCG -3'
(R):5'- GGTGAAATGCAGCCATTCCC -3'
Sequencing Primer
(F):5'- GCCCCCAGAGTTGACTTATCAG -3'
(R):5'- TTCTCCATCCACAACCCCGG -3'
|
Posted On |
2021-08-02 |