Incidental Mutation 'R9727:Rasgrp3'
| ID |
731127 |
| 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 # |
R9727 (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 G
at 75810239 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 313
(H313R)
|
| 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: H313R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: H313R
| 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: H313R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: H313R
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akirin2 |
A |
G |
4: 34,565,248 (GRCm39) |
Y165C |
probably damaging |
Het |
| Aox4 |
A |
G |
1: 58,286,473 (GRCm39) |
I702V |
probably benign |
Het |
| Arhgef33 |
A |
G |
17: 80,678,720 (GRCm39) |
Y472C |
probably damaging |
Het |
| Atp13a4 |
T |
G |
16: 29,228,589 (GRCm39) |
S964R |
|
Het |
| Atp1a2 |
T |
A |
1: 172,118,936 (GRCm39) |
I69F |
probably benign |
Het |
| Bub1 |
T |
C |
2: 127,652,609 (GRCm39) |
D586G |
possibly damaging |
Het |
| Ccdc177 |
C |
A |
12: 80,806,044 (GRCm39) |
A77S |
probably benign |
Het |
| Ccdc187 |
A |
G |
2: 26,171,204 (GRCm39) |
W425R |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,471,820 (GRCm39) |
E37G |
probably benign |
Het |
| Ccsap |
T |
C |
8: 124,572,169 (GRCm39) |
D111G |
possibly damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
C |
A |
7: 16,892,262 (GRCm39) |
T335K |
|
Het |
| Col22a1 |
A |
T |
15: 71,849,123 (GRCm39) |
W322R |
probably damaging |
Het |
| Col5a2 |
A |
G |
1: 45,415,818 (GRCm39) |
V1443A |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,523,510 (GRCm39) |
Q2000* |
probably null |
Het |
| Dock7 |
G |
T |
4: 98,875,568 (GRCm39) |
T1154K |
unknown |
Het |
| Dot1l |
T |
C |
10: 80,628,382 (GRCm39) |
L1140P |
unknown |
Het |
| Dst |
G |
A |
1: 34,314,877 (GRCm39) |
V4489M |
probably damaging |
Het |
| Duox2 |
G |
A |
2: 122,116,998 (GRCm39) |
R960* |
probably null |
Het |
| Elavl2 |
T |
C |
4: 91,169,495 (GRCm39) |
I97V |
probably benign |
Het |
| Emp1 |
G |
T |
6: 135,358,016 (GRCm39) |
A121S |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,702 (GRCm39) |
R1594S |
probably damaging |
Het |
| Fam186b |
C |
T |
15: 99,171,669 (GRCm39) |
M859I |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,159,137 (GRCm39) |
V3345A |
probably damaging |
Het |
| Gtf2f1 |
A |
T |
17: 57,318,005 (GRCm39) |
N10K |
possibly damaging |
Het |
| Hid1 |
T |
G |
11: 115,245,939 (GRCm39) |
K384N |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,674,566 (GRCm39) |
R579G |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,857,554 (GRCm39) |
V1078D |
probably damaging |
Het |
| Il20rb |
A |
T |
9: 100,357,001 (GRCm39) |
M43K |
probably damaging |
Het |
| Kdm3a |
A |
T |
6: 71,569,094 (GRCm39) |
Y1134* |
probably null |
Het |
| Kif12 |
T |
A |
4: 63,085,978 (GRCm39) |
N429I |
probably damaging |
Het |
| Kif18a |
C |
T |
2: 109,118,464 (GRCm39) |
T93I |
probably damaging |
Het |
| Krtap9-5 |
T |
A |
11: 99,839,340 (GRCm39) |
C14S |
possibly damaging |
Het |
| Lgals8 |
A |
T |
13: 12,462,038 (GRCm39) |
M264K |
possibly damaging |
Het |
| Mlxipl |
T |
A |
5: 135,150,388 (GRCm39) |
C143* |
probably null |
Het |
| Mtcl2 |
T |
A |
2: 156,862,168 (GRCm39) |
Q1587L |
possibly damaging |
Het |
| Mvp |
A |
T |
7: 126,595,040 (GRCm39) |
H268Q |
probably damaging |
Het |
| Ngef |
G |
A |
1: 87,431,010 (GRCm39) |
P269L |
probably damaging |
Het |
| Nos2 |
A |
G |
11: 78,843,825 (GRCm39) |
Y924C |
possibly damaging |
Het |
| Or4f52 |
A |
T |
2: 111,061,961 (GRCm39) |
M59K |
probably damaging |
Het |
| Phf20l1 |
A |
G |
15: 66,487,231 (GRCm39) |
N449S |
probably benign |
Het |
| Pot1b |
A |
C |
17: 55,999,795 (GRCm39) |
I210S |
possibly damaging |
Het |
| Ptrh1 |
T |
A |
2: 32,665,854 (GRCm39) |
W5R |
probably benign |
Het |
| Ric1 |
A |
T |
19: 29,575,258 (GRCm39) |
I984F |
probably damaging |
Het |
| Rin2 |
G |
A |
2: 145,702,506 (GRCm39) |
A401T |
possibly damaging |
Het |
| Rmdn3 |
C |
A |
2: 118,968,827 (GRCm39) |
|
probably null |
Het |
| Senp7 |
A |
T |
16: 55,990,169 (GRCm39) |
H639L |
probably benign |
Het |
| Sipa1l1 |
T |
C |
12: 82,471,829 (GRCm39) |
S1270P |
probably damaging |
Het |
| Slc22a28 |
T |
A |
19: 8,108,818 (GRCm39) |
E108V |
probably benign |
Het |
| Slc7a5 |
A |
G |
8: 122,613,085 (GRCm39) |
I331T |
probably benign |
Het |
| Smarca4 |
T |
C |
9: 21,611,160 (GRCm39) |
Y1467H |
probably damaging |
Het |
| Srebf2 |
T |
A |
15: 82,076,506 (GRCm39) |
F759I |
possibly damaging |
Het |
| Thumpd2 |
A |
T |
17: 81,345,585 (GRCm39) |
D304E |
probably damaging |
Het |
| Tmem59 |
A |
G |
4: 107,050,547 (GRCm39) |
E226G |
probably benign |
Het |
| Trpv1 |
A |
C |
11: 73,130,347 (GRCm39) |
D151A |
probably damaging |
Het |
| Txnrd3 |
A |
G |
6: 89,651,751 (GRCm39) |
D607G |
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,140,735 (GRCm39) |
V1218E |
probably damaging |
Het |
| Ugt2b5 |
T |
A |
5: 87,288,165 (GRCm39) |
M1L |
probably damaging |
Het |
| Vwa5b2 |
C |
T |
16: 20,423,477 (GRCm39) |
A1130V |
probably damaging |
Het |
| Wdr4 |
T |
C |
17: 31,718,045 (GRCm39) |
E343G |
probably benign |
Het |
| Zbtb34 |
C |
A |
2: 33,301,533 (GRCm39) |
R336L |
probably benign |
Het |
| Zfp607b |
T |
C |
7: 27,403,125 (GRCm39) |
V527A |
probably benign |
Het |
| Zfp949 |
T |
A |
9: 88,451,913 (GRCm39) |
C494* |
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 |
|
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'- ACCCCATAGCTGAGGAATTCC -3'
(R):5'- TACTATTGACCCCTGGGACTC -3'
Sequencing Primer
(F):5'- GCTGAGGAATTCCAAACCACATATTC -3'
(R):5'- CACAGTGAGTAGGTTGATCAAATCC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation