Incidental Mutation 'R9521:Rasgrp3'
| ID |
718915 |
| 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 # |
R9521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
75742891-75836049 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 75821158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 455
(L455Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092828
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095204]
[ENSMUST00000164192]
|
| AlphaFold |
Q6NZH9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000095204
AA Change: L455Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: L455Q
| 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: L455Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: L455Q
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,608,778 (GRCm39) |
|
probably null |
Het |
| A030005K14Rik |
C |
A |
1: 83,036,980 (GRCm39) |
G17V |
unknown |
Het |
| Afap1l1 |
C |
T |
18: 61,879,863 (GRCm39) |
A336T |
probably benign |
Het |
| Akap8 |
C |
T |
17: 32,530,036 (GRCm39) |
R395H |
possibly damaging |
Het |
| Ankrd26 |
G |
A |
6: 118,517,420 (GRCm39) |
A467V |
possibly damaging |
Het |
| Ano9 |
A |
T |
7: 140,682,227 (GRCm39) |
S683T |
probably benign |
Het |
| Aox3 |
C |
A |
1: 58,164,222 (GRCm39) |
A164E |
probably benign |
Het |
| Apc |
T |
C |
18: 34,445,738 (GRCm39) |
I878T |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Atg9b |
T |
C |
5: 24,593,107 (GRCm39) |
N432S |
probably benign |
Het |
| Atp1b3 |
A |
G |
9: 96,227,911 (GRCm39) |
F49L |
probably damaging |
Het |
| Cacnb2 |
A |
T |
2: 14,609,138 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,916,283 (GRCm39) |
L828Q |
probably null |
Het |
| Chd3 |
C |
T |
11: 69,249,133 (GRCm39) |
R748Q |
probably benign |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cldn18 |
T |
A |
9: 99,581,028 (GRCm39) |
|
probably null |
Het |
| Cmklr1 |
C |
T |
5: 113,752,480 (GRCm39) |
V174I |
probably benign |
Het |
| Cyp2d22 |
A |
T |
15: 82,256,688 (GRCm39) |
V362D |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,501,763 (GRCm39) |
K1810R |
probably damaging |
Het |
| Duox1 |
T |
A |
2: 122,159,216 (GRCm39) |
V661E |
possibly damaging |
Het |
| Ercc2 |
G |
A |
7: 19,125,899 (GRCm39) |
R518Q |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,841,471 (GRCm39) |
L1591P |
probably damaging |
Het |
| Fam186b |
G |
T |
15: 99,178,419 (GRCm39) |
D302E |
probably benign |
Het |
| Fap |
T |
C |
2: 62,372,500 (GRCm39) |
D326G |
probably benign |
Het |
| Gm42669 |
T |
A |
5: 107,655,892 (GRCm39) |
D135E |
|
Het |
| Keap1 |
A |
T |
9: 21,143,136 (GRCm39) |
V463E |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,794,979 (GRCm39) |
S2888P |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,722,118 (GRCm39) |
D403G |
probably damaging |
Het |
| Mios |
C |
T |
6: 8,233,171 (GRCm39) |
T773I |
probably benign |
Het |
| Nav3 |
T |
C |
10: 109,835,845 (GRCm39) |
D79G |
possibly damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or52d3 |
A |
G |
7: 104,228,855 (GRCm39) |
M1V |
probably null |
Het |
| Or8k35 |
C |
A |
2: 86,424,771 (GRCm39) |
V134F |
|
Het |
| Orc6 |
T |
C |
8: 86,026,615 (GRCm39) |
V20A |
possibly damaging |
Het |
| Peli2 |
A |
G |
14: 48,490,052 (GRCm39) |
K175E |
probably benign |
Het |
| Plec |
C |
G |
15: 76,062,924 (GRCm39) |
R2382P |
possibly damaging |
Het |
| Ppp1r12b |
T |
A |
1: 134,705,063 (GRCm39) |
D875V |
probably damaging |
Het |
| Pramel6 |
T |
A |
2: 87,340,629 (GRCm39) |
C320* |
probably null |
Het |
| Qrich2 |
A |
T |
11: 116,339,208 (GRCm39) |
M26K |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,624,291 (GRCm39) |
I1006V |
probably benign |
Het |
| Scaf8 |
C |
T |
17: 3,248,285 (GRCm39) |
R1203W |
probably damaging |
Het |
| Senp6 |
C |
T |
9: 79,974,687 (GRCm39) |
|
probably benign |
Het |
| Senp7 |
A |
G |
16: 55,992,144 (GRCm39) |
Y700C |
probably damaging |
Het |
| Siglec1 |
A |
G |
2: 130,915,246 (GRCm39) |
|
probably null |
Het |
| Slc12a7 |
G |
A |
13: 73,947,087 (GRCm39) |
V592I |
probably benign |
Het |
| Slfn3 |
T |
C |
11: 83,103,825 (GRCm39) |
V232A |
probably benign |
Het |
| Tdp1 |
T |
C |
12: 99,877,906 (GRCm39) |
V396A |
probably damaging |
Het |
| Ticam1 |
T |
C |
17: 56,578,388 (GRCm39) |
T236A |
probably benign |
Het |
| Tob1 |
AGCAGCAGCAGCAGCAGCAGCCGTCATCATCCCAGCCGCCGCCTCCACTACCGCAGCAGCAGCAGCAGCAGCC |
AGCAGCAGCAGCAGCAGCAGCC |
11: 94,105,205 (GRCm39) |
|
probably benign |
Het |
| Ttc21a |
C |
A |
9: 119,787,181 (GRCm39) |
D729E |
probably damaging |
Het |
| Ubtd2 |
T |
C |
11: 32,449,432 (GRCm39) |
I93T |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,808,586 (GRCm39) |
D224G |
probably benign |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r61 |
A |
G |
7: 41,916,626 (GRCm39) |
E413G |
probably damaging |
Het |
| Zfp423 |
A |
T |
8: 88,509,033 (GRCm39) |
L437Q |
probably damaging |
Het |
| Zfp810 |
A |
G |
9: 22,190,227 (GRCm39) |
V227A |
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 |
|
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 |
|
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'- AATCTTCTTATTGGTTCCCCACAAG -3'
(R):5'- AGATTGCTGGTTTGCCTTCC -3'
Sequencing Primer
(F):5'- CAAGTTTAGTGCCTGACTTACGCATG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation