Incidental Mutation 'R4052:Rasgrp3'
ID |
314226 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rasgrp3
|
Ensembl Gene |
ENSMUSG00000071042 |
Gene Name |
RAS, guanyl releasing protein 3 |
Synonyms |
LOC240168 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4052 ()
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
75742891-75836049 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75803963 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 89
(F89L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129393
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095204]
[ENSMUST00000164192]
|
AlphaFold |
Q6NZH9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095204
AA Change: F89L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092828 Gene: ENSMUSG00000071042 AA Change: F89L
Domain | Start | End | E-Value | Type |
RasGEFN
|
2 |
125 |
6.77e-12 |
SMART |
RasGEF
|
148 |
384 |
4.57e-104 |
SMART |
EFh
|
424 |
452 |
1.07e-1 |
SMART |
EFh
|
453 |
481 |
4.04e0 |
SMART |
C1
|
495 |
544 |
5.47e-17 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164192
AA Change: F89L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129393 Gene: ENSMUSG00000071042 AA Change: F89L
Domain | Start | End | E-Value | Type |
RasGEFN
|
2 |
125 |
6.77e-12 |
SMART |
RasGEF
|
148 |
384 |
4.57e-104 |
SMART |
EFh
|
424 |
452 |
1.07e-1 |
SMART |
EFh
|
453 |
481 |
4.04e0 |
SMART |
C1
|
495 |
544 |
5.47e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RASGRP3, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous mutant mice are viable and fertile with no obvious abnormalities in the kidneys or vasculature. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted(3) Gene trapped(1)
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110070M22Rik |
T |
G |
13: 119,624,738 (GRCm39) |
|
probably benign |
Het |
Abca8b |
G |
A |
11: 109,872,551 (GRCm39) |
Q17* |
probably null |
Het |
Abcc6 |
A |
C |
7: 45,635,987 (GRCm39) |
L1020R |
probably damaging |
Het |
Ace2 |
A |
G |
X: 162,952,581 (GRCm39) |
I110V |
probably benign |
Het |
Adam29 |
T |
C |
8: 56,325,317 (GRCm39) |
Y379C |
probably damaging |
Het |
Apol10a |
A |
T |
15: 77,373,185 (GRCm39) |
I274L |
probably benign |
Het |
BC005537 |
T |
A |
13: 24,993,881 (GRCm39) |
F119I |
possibly damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Cts3 |
T |
A |
13: 61,716,535 (GRCm39) |
I34L |
probably benign |
Het |
Cyp4a30b |
A |
G |
4: 115,311,539 (GRCm39) |
D69G |
probably benign |
Het |
Dclk2 |
A |
G |
3: 86,738,129 (GRCm39) |
|
probably null |
Het |
Dhx30 |
A |
G |
9: 109,929,889 (GRCm39) |
V69A |
possibly damaging |
Het |
Dis3 |
T |
G |
14: 99,332,752 (GRCm39) |
I227L |
probably benign |
Het |
Dock3 |
A |
G |
9: 106,850,995 (GRCm39) |
S836P |
probably damaging |
Het |
Efhc2 |
T |
C |
X: 17,096,789 (GRCm39) |
N186S |
possibly damaging |
Het |
Erap1 |
A |
G |
13: 74,823,459 (GRCm39) |
N831S |
probably benign |
Het |
Gimap3 |
T |
A |
6: 48,743,447 (GRCm39) |
T3S |
possibly damaging |
Het |
Gpr82 |
C |
T |
X: 13,531,898 (GRCm39) |
P149S |
probably damaging |
Het |
H3f3a |
C |
T |
1: 180,630,703 (GRCm39) |
R117H |
probably benign |
Het |
Hcn2 |
A |
C |
10: 79,569,521 (GRCm39) |
|
probably null |
Het |
Helz2 |
A |
G |
2: 180,882,268 (GRCm39) |
L175P |
probably damaging |
Het |
Il36b |
T |
C |
2: 24,049,844 (GRCm39) |
F152L |
probably damaging |
Het |
Ino80b |
G |
C |
6: 83,099,314 (GRCm39) |
P178R |
probably damaging |
Het |
Ldlrad3 |
C |
T |
2: 101,783,507 (GRCm39) |
D240N |
probably damaging |
Het |
Lef1 |
A |
G |
3: 130,988,338 (GRCm39) |
N236D |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,365,810 (GRCm39) |
S1419P |
probably benign |
Het |
Me2 |
T |
C |
18: 73,924,156 (GRCm39) |
K352R |
probably benign |
Het |
Ncapd3 |
T |
A |
9: 27,000,679 (GRCm39) |
|
probably null |
Het |
Or52n3 |
A |
G |
7: 104,530,810 (GRCm39) |
T299A |
probably damaging |
Het |
P2rx7 |
T |
C |
5: 122,804,340 (GRCm39) |
F293S |
probably damaging |
Het |
Pabpc1l |
T |
C |
2: 163,885,533 (GRCm39) |
W429R |
probably benign |
Het |
Parp14 |
T |
C |
16: 35,678,771 (GRCm39) |
E399G |
probably benign |
Het |
Pde6h |
A |
G |
6: 136,936,266 (GRCm39) |
D3G |
unknown |
Het |
Pfkfb1 |
A |
T |
X: 149,405,184 (GRCm39) |
D208V |
possibly damaging |
Het |
Rif1 |
A |
T |
2: 51,988,483 (GRCm39) |
K741* |
probably null |
Het |
Rnase4 |
A |
G |
14: 51,342,462 (GRCm39) |
K62R |
probably benign |
Het |
Rnf207 |
C |
A |
4: 152,395,894 (GRCm39) |
Q533H |
probably benign |
Het |
Slc24a2 |
A |
G |
4: 87,145,442 (GRCm39) |
V204A |
probably damaging |
Het |
Spry2 |
A |
T |
14: 106,130,635 (GRCm39) |
C184S |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,936,510 (GRCm39) |
Y152C |
probably damaging |
Het |
Thrap3 |
G |
A |
4: 126,070,012 (GRCm39) |
A625V |
probably damaging |
Het |
Tmem39a |
T |
A |
16: 38,406,650 (GRCm39) |
V329D |
probably damaging |
Het |
Trav7-3 |
A |
G |
14: 53,681,203 (GRCm39) |
T82A |
probably benign |
Het |
Trim30b |
T |
A |
7: 104,006,685 (GRCm39) |
Q57L |
possibly damaging |
Het |
Uggt1 |
A |
G |
1: 36,203,570 (GRCm39) |
V1020A |
probably damaging |
Het |
Zfp941 |
T |
G |
7: 140,392,340 (GRCm39) |
K340Q |
possibly damaging |
Het |
|
Other mutations in Rasgrp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02270:Rasgrp3
|
APN |
17 |
75,823,368 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02529:Rasgrp3
|
APN |
17 |
75,832,097 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL02672:Rasgrp3
|
APN |
17 |
75,803,412 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02935:Rasgrp3
|
APN |
17 |
75,804,065 (GRCm39) |
missense |
probably benign |
0.00 |
Aster
|
UTSW |
17 |
75,816,822 (GRCm39) |
splice site |
probably null |
|
aston
|
UTSW |
17 |
75,807,753 (GRCm39) |
critical splice donor site |
probably null |
|
centre
|
UTSW |
17 |
75,807,729 (GRCm39) |
missense |
possibly damaging |
0.50 |
P0021:Rasgrp3
|
UTSW |
17 |
75,807,708 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4243001:Rasgrp3
|
UTSW |
17 |
75,807,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R0090:Rasgrp3
|
UTSW |
17 |
75,805,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R0907:Rasgrp3
|
UTSW |
17 |
75,816,822 (GRCm39) |
splice site |
probably null |
|
R1182:Rasgrp3
|
UTSW |
17 |
75,810,185 (GRCm39) |
missense |
probably benign |
0.01 |
R1412:Rasgrp3
|
UTSW |
17 |
75,816,822 (GRCm39) |
splice site |
probably null |
|
R1572:Rasgrp3
|
UTSW |
17 |
75,807,729 (GRCm39) |
missense |
possibly damaging |
0.50 |
R1664:Rasgrp3
|
UTSW |
17 |
75,831,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R2094:Rasgrp3
|
UTSW |
17 |
75,810,136 (GRCm39) |
missense |
probably damaging |
1.00 |
R2111:Rasgrp3
|
UTSW |
17 |
75,807,753 (GRCm39) |
critical splice donor site |
probably null |
|
R3026:Rasgrp3
|
UTSW |
17 |
75,831,916 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4348:Rasgrp3
|
UTSW |
17 |
75,818,975 (GRCm39) |
missense |
probably benign |
0.00 |
R4509:Rasgrp3
|
UTSW |
17 |
75,807,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R4642:Rasgrp3
|
UTSW |
17 |
75,805,443 (GRCm39) |
missense |
possibly damaging |
0.64 |
R4791:Rasgrp3
|
UTSW |
17 |
75,807,168 (GRCm39) |
missense |
probably benign |
0.37 |
R4901:Rasgrp3
|
UTSW |
17 |
75,821,111 (GRCm39) |
nonsense |
probably null |
|
R4927:Rasgrp3
|
UTSW |
17 |
75,823,350 (GRCm39) |
missense |
probably benign |
0.00 |
R5410:Rasgrp3
|
UTSW |
17 |
75,804,042 (GRCm39) |
missense |
probably benign |
0.01 |
R5444:Rasgrp3
|
UTSW |
17 |
75,810,370 (GRCm39) |
missense |
probably damaging |
0.99 |
R5483:Rasgrp3
|
UTSW |
17 |
75,832,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R5518:Rasgrp3
|
UTSW |
17 |
75,823,354 (GRCm39) |
missense |
probably benign |
0.36 |
R5755:Rasgrp3
|
UTSW |
17 |
75,831,940 (GRCm39) |
missense |
probably benign |
0.44 |
R5845:Rasgrp3
|
UTSW |
17 |
75,810,142 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6310:Rasgrp3
|
UTSW |
17 |
75,801,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R6604:Rasgrp3
|
UTSW |
17 |
75,810,110 (GRCm39) |
missense |
probably benign |
0.10 |
R6826:Rasgrp3
|
UTSW |
17 |
75,810,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R7409:Rasgrp3
|
UTSW |
17 |
75,823,411 (GRCm39) |
missense |
possibly damaging |
0.48 |
R7507:Rasgrp3
|
UTSW |
17 |
75,804,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R7536:Rasgrp3
|
UTSW |
17 |
75,821,128 (GRCm39) |
missense |
probably damaging |
1.00 |
R7538:Rasgrp3
|
UTSW |
17 |
75,803,411 (GRCm39) |
missense |
probably benign |
|
R8089:Rasgrp3
|
UTSW |
17 |
75,804,056 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8677:Rasgrp3
|
UTSW |
17 |
75,819,055 (GRCm39) |
missense |
probably benign |
0.00 |
R9483:Rasgrp3
|
UTSW |
17 |
75,807,717 (GRCm39) |
missense |
probably benign |
0.22 |
R9521:Rasgrp3
|
UTSW |
17 |
75,821,158 (GRCm39) |
missense |
probably null |
1.00 |
R9557:Rasgrp3
|
UTSW |
17 |
75,807,139 (GRCm39) |
missense |
probably damaging |
0.98 |
R9727:Rasgrp3
|
UTSW |
17 |
75,810,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R9757:Rasgrp3
|
UTSW |
17 |
75,807,719 (GRCm39) |
missense |
probably damaging |
1.00 |
X0011:Rasgrp3
|
UTSW |
17 |
75,832,161 (GRCm39) |
nonsense |
probably null |
|
Z1177:Rasgrp3
|
UTSW |
17 |
75,819,090 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGGGAGCTGTCAACTTCGTC -3'
(R):5'- TGTAGCCAGGCTCTCTCCAAAG -3'
Sequencing Primer
(F):5'- CAACTTCGTCTGGTACTGGAGTCAG -3'
(R):5'- GGAACTTCCTTCTAGAACAGTCGAG -3'
|
Posted On |
2015-04-30 |