Incidental Mutation 'IGL00553:Rspo3'
| ID |
13880 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rspo3
|
| Ensembl Gene |
ENSMUSG00000019880 |
| Gene Name |
R-spondin 3 |
| Synonyms |
2810459H04Rik, Cristin1, Thsd2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00553
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
29329102-29411863 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
A to G
at 29330148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092623]
|
| AlphaFold |
Q2TJ95 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000092623
AA Change: V271A
|
| SMART Domains |
Protein: ENSMUSP00000090287
Gene: ENSMUSG00000019880
AA Change: V271A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FU
|
35 |
86 |
4.74e-6 |
SMART |
|
FU
|
92 |
135 |
3.79e-5 |
SMART |
|
EGF
|
97 |
126 |
2.39e1 |
SMART |
|
TSP1
|
150 |
207 |
1.56e-6 |
SMART |
|
low complexity region
|
248 |
269 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215256
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the R-spondin family. The encoded protein plays a role in the regulation of Wnt (wingless-type MMTV integration site family)/beta-catenin and Wnt/planar cell polarity (PCP) signaling pathways, which are involved in development, cell growth and disease pathogenesis. Genome-wide association studies suggest a correlation of this gene with bone mineral density and risk of fracture. This gene may be involved in tumor development. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, embryonic growth arrest, and impaired fetal placental vascular development. Mice homozygous for a conditional allele activated in limbs exhibit slight limb shortening. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acr |
A |
G |
15: 89,457,453 (GRCm39) |
I234V |
probably benign |
Het |
| Arid4a |
T |
C |
12: 71,122,751 (GRCm39) |
L1044P |
probably benign |
Het |
| Bcl9 |
A |
T |
3: 97,114,518 (GRCm39) |
D1035E |
probably damaging |
Het |
| Bptf |
G |
A |
11: 106,946,105 (GRCm39) |
T2263I |
possibly damaging |
Het |
| Eprs1 |
G |
T |
1: 185,139,345 (GRCm39) |
C910F |
probably benign |
Het |
| Glipr1 |
T |
C |
10: 111,822,574 (GRCm39) |
N47S |
possibly damaging |
Het |
| Ifi35 |
A |
G |
11: 101,348,152 (GRCm39) |
E86G |
probably damaging |
Het |
| Mx1 |
T |
A |
16: 97,258,632 (GRCm39) |
I22F |
probably damaging |
Het |
| Nr2f1 |
A |
G |
13: 78,346,361 (GRCm39) |
V111A |
probably damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,202,008 (GRCm39) |
E524V |
probably benign |
Het |
| Setdb2 |
C |
T |
14: 59,653,241 (GRCm39) |
V354M |
probably damaging |
Het |
| Slc28a3 |
A |
G |
13: 58,710,823 (GRCm39) |
|
probably null |
Het |
| Stau1 |
T |
C |
2: 166,793,254 (GRCm39) |
K294E |
possibly damaging |
Het |
| Susd3 |
A |
T |
13: 49,384,614 (GRCm39) |
*270R |
probably null |
Het |
| Ttc39b |
T |
C |
4: 83,162,276 (GRCm39) |
|
probably benign |
Het |
| Usf1 |
T |
C |
1: 171,244,843 (GRCm39) |
V169A |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,600,480 (GRCm39) |
L1077P |
probably damaging |
Het |
| Vsnl1 |
A |
G |
12: 11,382,190 (GRCm39) |
F64L |
probably damaging |
Het |
| Zmiz1 |
T |
A |
14: 25,572,494 (GRCm39) |
M1K |
probably null |
Het |
|
| Other mutations in Rspo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Rspo3
|
APN |
10 |
29,380,704 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02030:Rspo3
|
APN |
10 |
29,376,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02166:Rspo3
|
APN |
10 |
29,411,275 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03078:Rspo3
|
APN |
10 |
29,380,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Rspo3
|
APN |
10 |
29,411,270 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0619:Rspo3
|
UTSW |
10 |
29,380,633 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0762:Rspo3
|
UTSW |
10 |
29,375,917 (GRCm39) |
splice site |
probably benign |
|
|
R0831:Rspo3
|
UTSW |
10 |
29,330,253 (GRCm39) |
missense |
unknown |
|
|
R4937:Rspo3
|
UTSW |
10 |
29,382,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5031:Rspo3
|
UTSW |
10 |
29,382,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5356:Rspo3
|
UTSW |
10 |
29,376,064 (GRCm39) |
nonsense |
probably null |
|
|
R6285:Rspo3
|
UTSW |
10 |
29,375,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6606:Rspo3
|
UTSW |
10 |
29,330,277 (GRCm39) |
missense |
unknown |
|
|
R8502:Rspo3
|
UTSW |
10 |
29,375,970 (GRCm39) |
missense |
probably benign |
0.08 |
|
| Posted On |
2012-12-06 |
Incidental Mutation