Incidental Mutation 'R2409:Rgs5'
ID |
248115 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rgs5
|
Ensembl Gene |
ENSMUSG00000026678 |
Gene Name |
regulator of G-protein signaling 5 |
Synonyms |
1110070A02Rik |
MMRRC Submission |
040375-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2409 (G1)
|
Quality Score |
224 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
169483070-169523367 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 169504451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 34
(V34F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141496
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027997]
[ENSMUST00000152809]
|
AlphaFold |
O08850 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027997
AA Change: V34F
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000027997 Gene: ENSMUSG00000026678 AA Change: V34F
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
RGS
|
64 |
180 |
9.08e-49 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152809
AA Change: V34F
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000141496 Gene: ENSMUSG00000026678 AA Change: V34F
Domain | Start | End | E-Value | Type |
PDB:1AGR|H
|
1 |
73 |
5e-10 |
PDB |
SCOP:d1dk8a_
|
51 |
71 |
1e-5 |
SMART |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
100% (32/32) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the regulators of G protein signaling (RGS) family. The RGS proteins are signal transduction molecules which are involved in the regulation of heterotrimeric G proteins by acting as GTPase activators. This gene is a hypoxia-inducible factor-1 dependent, hypoxia-induced gene which is involved in the induction of endothelial apoptosis. This gene is also one of three genes on chromosome 1q contributing to elevated blood pressure. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a targeted mutation appear normal. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
C |
T |
5: 8,788,747 (GRCm39) |
T1042I |
probably benign |
Het |
Adamts13 |
A |
G |
2: 26,868,374 (GRCm39) |
T162A |
probably benign |
Het |
Adamts7 |
T |
A |
9: 90,062,740 (GRCm39) |
I398N |
probably damaging |
Het |
Cib2 |
A |
G |
9: 54,452,751 (GRCm39) |
|
probably null |
Het |
Cyp3a16 |
T |
C |
5: 145,377,177 (GRCm39) |
K470R |
probably benign |
Het |
Dpy19l2 |
A |
G |
9: 24,569,924 (GRCm39) |
M343T |
probably benign |
Het |
Dyrk2 |
A |
G |
10: 118,696,532 (GRCm39) |
V242A |
probably benign |
Het |
Extl3 |
T |
C |
14: 65,315,017 (GRCm39) |
D55G |
probably benign |
Het |
Fabp7 |
A |
G |
10: 57,661,772 (GRCm39) |
K82E |
possibly damaging |
Het |
Fat1 |
G |
T |
8: 45,493,567 (GRCm39) |
|
probably benign |
Het |
Gen1 |
A |
G |
12: 11,299,165 (GRCm39) |
I280T |
possibly damaging |
Het |
Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
Gucy1b2 |
CCGTGTTT |
C |
14: 62,643,628 (GRCm39) |
|
probably null |
Het |
Il3ra |
G |
A |
14: 14,349,377 (GRCm38) |
|
probably null |
Het |
Myo1f |
A |
G |
17: 33,795,641 (GRCm39) |
N66D |
probably damaging |
Het |
Nfkb1 |
C |
T |
3: 135,319,704 (GRCm39) |
E264K |
possibly damaging |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or7d10 |
G |
T |
9: 19,832,072 (GRCm39) |
R189L |
probably benign |
Het |
Or7d10 |
G |
C |
9: 19,832,077 (GRCm39) |
D191H |
probably damaging |
Het |
Prdm10 |
A |
G |
9: 31,260,418 (GRCm39) |
H624R |
possibly damaging |
Het |
Sec14l4 |
T |
C |
11: 3,990,048 (GRCm39) |
S116P |
probably benign |
Het |
Septin1 |
T |
C |
7: 126,815,143 (GRCm39) |
|
probably null |
Het |
Septin9 |
T |
A |
11: 117,251,287 (GRCm39) |
I535N |
probably damaging |
Het |
Sh2b1 |
C |
T |
7: 126,070,651 (GRCm39) |
G350D |
probably damaging |
Het |
Slc6a21 |
T |
C |
7: 44,929,750 (GRCm39) |
V107A |
probably benign |
Het |
Trim26 |
C |
A |
17: 37,161,895 (GRCm39) |
H105N |
probably damaging |
Het |
Trim71 |
A |
T |
9: 114,342,781 (GRCm39) |
D500E |
possibly damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,953 (GRCm39) |
|
probably benign |
Het |
Vmn2r84 |
A |
G |
10: 130,227,940 (GRCm39) |
S99P |
probably damaging |
Het |
|
Other mutations in Rgs5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01573:Rgs5
|
APN |
1 |
169,504,413 (GRCm39) |
missense |
probably benign |
|
R0024:Rgs5
|
UTSW |
1 |
169,504,461 (GRCm39) |
missense |
probably damaging |
0.99 |
R1334:Rgs5
|
UTSW |
1 |
169,510,386 (GRCm39) |
critical splice donor site |
probably null |
|
R1500:Rgs5
|
UTSW |
1 |
169,517,983 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1753:Rgs5
|
UTSW |
1 |
169,510,386 (GRCm39) |
critical splice donor site |
probably null |
|
R1967:Rgs5
|
UTSW |
1 |
169,504,425 (GRCm39) |
missense |
probably benign |
|
R3831:Rgs5
|
UTSW |
1 |
169,504,470 (GRCm39) |
missense |
probably benign |
0.06 |
R7337:Rgs5
|
UTSW |
1 |
169,483,149 (GRCm39) |
start codon destroyed |
probably null |
0.13 |
R8864:Rgs5
|
UTSW |
1 |
169,517,990 (GRCm39) |
missense |
probably benign |
|
R8960:Rgs5
|
UTSW |
1 |
169,504,461 (GRCm39) |
missense |
possibly damaging |
0.81 |
R9776:Rgs5
|
UTSW |
1 |
169,518,089 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGATTGGAACCCACGTGTC -3'
(R):5'- TCTGAGGACTCTGATGATTTTCAG -3'
Sequencing Primer
(F):5'- GGAACCCACGTGTCCTGTTTTC -3'
(R):5'- TGATTTTCAGTGAATAATGGAAGGG -3'
|
Posted On |
2014-11-11 |