Incidental Mutation 'R6604:Rasgrp3'
| ID |
525567 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rasgrp3
|
| Ensembl Gene |
ENSMUSG00000071042 |
| Gene Name |
RAS, guanyl releasing protein 3 |
| Synonyms |
LOC240168 |
| MMRRC Submission |
044727-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6604 (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 C
at 75810110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 270
(N270T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095204]
[ENSMUST00000164192]
|
| AlphaFold |
Q6NZH9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095204
AA Change: N270T
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000092828
Gene: ENSMUSG00000071042
AA Change: N270T
| 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 benign
Transcript: ENSMUST00000164192
AA Change: N270T
PolyPhen 2
Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000129393
Gene: ENSMUSG00000071042
AA Change: N270T
| 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: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
A |
G |
15: 37,439,823 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
G |
11: 9,328,384 (GRCm39) |
F3486V |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,122,271 (GRCm39) |
L830P |
probably damaging |
Het |
| Aurkb |
T |
A |
11: 68,939,388 (GRCm39) |
L157* |
probably null |
Het |
| Bbs10 |
T |
G |
10: 111,136,965 (GRCm39) |
L693V |
possibly damaging |
Het |
| Dna2 |
G |
T |
10: 62,803,522 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
T |
A |
11: 104,589,772 (GRCm39) |
L123* |
probably null |
Het |
| Ext1 |
A |
G |
15: 52,946,555 (GRCm39) |
F550L |
probably damaging |
Het |
| Gm5129 |
A |
G |
5: 29,940,765 (GRCm39) |
|
probably benign |
Het |
| Golm1 |
A |
G |
13: 59,786,197 (GRCm39) |
Y332H |
probably damaging |
Het |
| Gpbp1l1 |
C |
T |
4: 116,430,702 (GRCm39) |
P58S |
probably benign |
Het |
| Grk4 |
A |
T |
5: 34,877,208 (GRCm39) |
D301V |
probably damaging |
Het |
| Haus1 |
T |
C |
18: 77,851,797 (GRCm39) |
E106G |
probably damaging |
Het |
| Hpd |
T |
C |
5: 123,318,964 (GRCm39) |
|
probably null |
Het |
| Kcnj6 |
C |
A |
16: 94,563,504 (GRCm39) |
E313D |
probably damaging |
Het |
| Lmna |
A |
G |
3: 88,395,589 (GRCm39) |
V57A |
probably damaging |
Het |
| Lrrtm1 |
T |
C |
6: 77,221,221 (GRCm39) |
F226S |
possibly damaging |
Het |
| Otogl |
T |
C |
10: 107,657,895 (GRCm39) |
|
probably null |
Het |
| Pgr |
A |
C |
9: 8,946,867 (GRCm39) |
T703P |
possibly damaging |
Het |
| Ppig |
T |
C |
2: 69,571,925 (GRCm39) |
S215P |
unknown |
Het |
| Pramel28 |
T |
C |
4: 143,692,567 (GRCm39) |
R145G |
probably benign |
Het |
| Rp1 |
C |
A |
1: 4,089,351 (GRCm39) |
K1305N |
unknown |
Het |
| Shc1 |
A |
G |
3: 89,329,186 (GRCm39) |
Y10C |
probably damaging |
Het |
| Slc12a1 |
G |
T |
2: 125,026,735 (GRCm39) |
D457Y |
probably damaging |
Het |
| Sncaip |
A |
G |
18: 53,038,918 (GRCm39) |
Q544R |
possibly damaging |
Het |
| Socs5 |
T |
C |
17: 87,442,553 (GRCm39) |
Y498H |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,242,671 (GRCm39) |
D1472G |
probably benign |
Het |
| Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
| Tmem236 |
A |
G |
2: 14,179,512 (GRCm39) |
T38A |
probably benign |
Het |
| Vmn2r29 |
A |
T |
7: 7,234,858 (GRCm39) |
V676E |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,907,694 (GRCm39) |
V56A |
probably damaging |
Het |
| Xirp2 |
T |
C |
2: 67,340,189 (GRCm39) |
I810T |
possibly damaging |
Het |
| Zfp958 |
T |
C |
8: 4,678,245 (GRCm39) |
L90P |
probably 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 |
|
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'- TTGTTGCAAAGTGGAGCAGG -3'
(R):5'- TGGTGCATTTTCACAACGTTCAC -3'
Sequencing Primer
(F):5'- CAGGCCCAGTGCAGTTTTC -3'
(R):5'- GCATTTTCACAACGTTCACTTTGTTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation