Incidental Mutation 'R9757:Rasgrp3'
| ID |
732818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp3
|
| Ensembl Gene |
ENSMUSG00000071042 |
| Gene Name |
RAS, guanyl releasing protein 3 |
| Synonyms |
LOC240168 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
75742891-75836049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 75807719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 259
(T259S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095204]
[ENSMUST00000164192]
|
| AlphaFold |
Q6NZH9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095204
AA Change: T259S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: T259S
| 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: T259S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: T259S
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
C |
5: 81,613,086 (GRCm39) |
V105A |
probably benign |
Het |
| Agrn |
C |
A |
4: 156,261,235 (GRCm39) |
V621L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,517,676 (GRCm39) |
S323P |
probably damaging |
Het |
| Anxa6 |
T |
A |
11: 54,885,182 (GRCm39) |
K456* |
probably null |
Het |
| C7 |
G |
T |
15: 5,075,134 (GRCm39) |
T186K |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,609,113 (GRCm39) |
E396G |
probably damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,762,170 (GRCm39) |
T20I |
|
Het |
| Ces1b |
G |
T |
8: 93,806,501 (GRCm39) |
P15Q |
probably benign |
Het |
| Dnah14 |
G |
T |
1: 181,513,349 (GRCm39) |
A1901S |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,901,035 (GRCm39) |
H310R |
possibly damaging |
Het |
| Eif2ak4 |
T |
G |
2: 118,269,398 (GRCm39) |
S23R |
probably benign |
Het |
| Gli2 |
A |
G |
1: 118,773,652 (GRCm39) |
C485R |
probably damaging |
Het |
| Gm17093 |
T |
A |
14: 44,758,990 (GRCm39) |
W171R |
|
Het |
| Ing2 |
G |
A |
8: 48,128,075 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
T |
C |
1: 180,160,372 (GRCm39) |
I166T |
probably benign |
Het |
| Kcnj8 |
T |
A |
6: 142,515,805 (GRCm39) |
I101F |
probably benign |
Het |
| Krtap6-2 |
C |
T |
16: 89,216,958 (GRCm39) |
C3Y |
unknown |
Het |
| Lep |
A |
G |
6: 29,069,083 (GRCm39) |
I45V |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,695,229 (GRCm39) |
I2355L |
probably benign |
Het |
| Mettl3 |
C |
A |
14: 52,537,361 (GRCm39) |
A174S |
probably benign |
Het |
| Mmp23 |
T |
C |
4: 155,735,515 (GRCm39) |
N317S |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,372,257 (GRCm39) |
V777E |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,617 (GRCm39) |
C844S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,892,338 (GRCm39) |
E6823G |
probably benign |
Het |
| Or6y1 |
A |
T |
1: 174,276,866 (GRCm39) |
I226F |
probably damaging |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,302 (GRCm39) |
Q751L |
probably benign |
Het |
| Pdgfrl |
T |
A |
8: 41,379,454 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Pdzph1 |
A |
C |
17: 59,281,898 (GRCm39) |
L128* |
probably null |
Het |
| Pramel24 |
A |
G |
4: 143,454,992 (GRCm39) |
D430G |
probably benign |
Het |
| Prr36 |
A |
T |
8: 4,260,998 (GRCm39) |
S940T |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,595,120 (GRCm39) |
I279N |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,628,433 (GRCm39) |
I538N |
probably damaging |
Het |
| Sdf2l1 |
A |
T |
16: 16,948,398 (GRCm39) |
D213E |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,711,363 (GRCm39) |
Y643H |
probably damaging |
Het |
| Sval2 |
G |
T |
6: 41,838,774 (GRCm39) |
C4F |
possibly damaging |
Het |
| Taldo1 |
A |
G |
7: 140,980,263 (GRCm39) |
E131G |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,296 (GRCm39) |
I166M |
probably benign |
Het |
| Tmem178 |
A |
G |
17: 81,308,289 (GRCm39) |
Y228C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,612,423 (GRCm39) |
L17188* |
probably null |
Het |
| Unc45b |
A |
G |
11: 82,810,558 (GRCm39) |
K273E |
probably damaging |
Het |
| Usp32 |
A |
C |
11: 84,968,155 (GRCm39) |
Y169* |
probably null |
Het |
| Vmn2r9 |
A |
T |
5: 108,995,908 (GRCm39) |
Y247N |
possibly damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,079,310 (GRCm39) |
C882* |
probably null |
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 |
|
R4052:Rasgrp3
|
UTSW |
17 |
75,803,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- TCACCTGCAACTTGGAAAATCC -3'
(R):5'- GCAGCAATCTGGTTTGATGG -3'
Sequencing Primer
(F):5'- ACCATGTGTTAGTGTTAATGGT -3'
(R):5'- CTTGGACAATGGGGCTAGTCC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation