Incidental Mutation 'R1334:Rgs5'
| ID |
156795 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rgs5
|
| Ensembl Gene |
ENSMUSG00000026678 |
| Gene Name |
regulator of G-protein signaling 5 |
| Synonyms |
1110070A02Rik |
| MMRRC Submission |
039399-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
169483070-169523367 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 169510386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027997]
[ENSMUST00000152809]
|
| AlphaFold |
O08850 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027997
|
| SMART Domains |
Protein: ENSMUSP00000027997
Gene: ENSMUSG00000026678
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
53 |
N/A |
INTRINSIC |
|
RGS
|
64 |
180 |
9.08e-49 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152809
|
| SMART Domains |
Protein: ENSMUSP00000141496
Gene: ENSMUSG00000026678
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1AGR|H
|
1 |
73 |
5e-10 |
PDB |
|
SCOP:d1dk8a_
|
51 |
71 |
1e-5 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.9%
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Bnc2 |
T |
C |
4: 84,194,526 (GRCm39) |
E933G |
possibly damaging |
Het |
| Ccdc69 |
A |
T |
11: 54,943,805 (GRCm39) |
H75Q |
probably damaging |
Het |
| Ccdc81 |
C |
T |
7: 89,515,769 (GRCm39) |
E637K |
probably benign |
Het |
| Cpa3 |
T |
C |
3: 20,276,387 (GRCm39) |
E282G |
probably damaging |
Het |
| Cpxm1 |
G |
A |
2: 130,235,483 (GRCm39) |
P503L |
probably damaging |
Het |
| Dnaaf9 |
C |
T |
2: 130,617,642 (GRCm39) |
|
probably null |
Het |
| Dnah7b |
T |
C |
1: 46,361,495 (GRCm39) |
F3465S |
probably damaging |
Het |
| Dnaja3 |
T |
C |
16: 4,517,658 (GRCm39) |
S297P |
probably damaging |
Het |
| Enpp4 |
C |
A |
17: 44,413,259 (GRCm39) |
V92L |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,513,000 (GRCm39) |
Y709N |
probably damaging |
Het |
| H2-Eb2 |
T |
G |
17: 34,553,324 (GRCm39) |
V170G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,462,219 (GRCm39) |
G5153D |
possibly damaging |
Het |
| Ldah |
T |
C |
12: 8,334,089 (GRCm39) |
|
probably null |
Het |
| Micu1 |
T |
C |
10: 59,624,798 (GRCm39) |
L280P |
probably damaging |
Het |
| Mon1a |
A |
C |
9: 107,778,562 (GRCm39) |
N262T |
probably damaging |
Het |
| Nim1k |
A |
G |
13: 120,174,024 (GRCm39) |
I290T |
probably benign |
Het |
| Or1q1 |
A |
T |
2: 36,886,872 (GRCm39) |
I17F |
probably benign |
Het |
| Or2a57 |
A |
G |
6: 43,212,899 (GRCm39) |
Y119C |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,571 (GRCm39) |
T57A |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,569,724 (GRCm39) |
T290I |
probably damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,604,129 (GRCm39) |
D1187A |
possibly damaging |
Het |
| Primpol |
T |
C |
8: 47,039,426 (GRCm39) |
Y398C |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,786,305 (GRCm39) |
T650A |
possibly damaging |
Het |
| Rasl12 |
G |
A |
9: 65,318,151 (GRCm39) |
V172M |
probably damaging |
Het |
| St14 |
T |
C |
9: 31,019,506 (GRCm39) |
Y105C |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,575,387 (GRCm39) |
T16842A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,643,316 (GRCm39) |
E13201G |
probably damaging |
Het |
| Vwa5a |
C |
A |
9: 38,646,037 (GRCm39) |
N468K |
probably benign |
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 |
|
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 |
|
|
R2409:Rgs5
|
UTSW |
1 |
169,504,451 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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'- TCTATCTGTCGCCATCCTGAGGAC -3'
(R):5'- GCTCTCAAAGGGAGGCTCACAAAAG -3'
Sequencing Primer
(F):5'- GCCATCCTGAGGACCAATC -3'
(R):5'- tgatgcccacttttagtccc -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation