Incidental Mutation 'IGL03078:Rspo3'
| ID |
417752 |
| 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 # |
IGL03078
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
29329102-29411863 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29380657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 119
(Y119C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090287
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092623]
|
| AlphaFold |
Q2TJ95 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092623
AA Change: Y119C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090287
Gene: ENSMUSG00000019880
AA Change: Y119C
| 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 |
unknown
Transcript: ENSMUST00000215256
AA Change: Y23C
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,167,371 (GRCm39) |
K1482* |
probably null |
Het |
| Abtb3 |
C |
T |
10: 85,468,027 (GRCm39) |
A774V |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,253,244 (GRCm39) |
|
probably benign |
Het |
| Adamdec1 |
C |
T |
14: 68,806,299 (GRCm39) |
R392H |
possibly damaging |
Het |
| Anxa7 |
T |
C |
14: 20,506,624 (GRCm39) |
K439E |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,890,408 (GRCm39) |
|
probably benign |
Het |
| Asic5 |
A |
G |
3: 81,921,735 (GRCm39) |
E367G |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,291,905 (GRCm39) |
T3307A |
possibly damaging |
Het |
| Dnd1 |
T |
C |
18: 36,899,197 (GRCm39) |
E8G |
probably damaging |
Het |
| Eif2ak1 |
T |
C |
5: 143,810,587 (GRCm39) |
I99T |
probably benign |
Het |
| Fras1 |
C |
T |
5: 96,783,994 (GRCm39) |
R833C |
probably damaging |
Het |
| Hectd1 |
A |
G |
12: 51,849,019 (GRCm39) |
S362P |
probably damaging |
Het |
| Hs3st4 |
A |
G |
7: 123,996,669 (GRCm39) |
E445G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 192,117,108 (GRCm39) |
T21A |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,698,291 (GRCm39) |
R594H |
probably damaging |
Het |
| Lsm14b |
T |
C |
2: 179,668,521 (GRCm39) |
I74T |
probably damaging |
Het |
| Myh2 |
T |
A |
11: 67,081,256 (GRCm39) |
S1291T |
probably benign |
Het |
| Myo3b |
T |
A |
2: 70,117,335 (GRCm39) |
F923I |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,969,624 (GRCm39) |
|
probably null |
Het |
| Or51f1d |
T |
C |
7: 102,701,036 (GRCm39) |
F177S |
probably damaging |
Het |
| Or8b53 |
C |
T |
9: 38,667,541 (GRCm39) |
Q186* |
probably null |
Het |
| Piezo2 |
A |
C |
18: 63,203,146 (GRCm39) |
M1484R |
probably damaging |
Het |
| Rhoh |
T |
A |
5: 66,050,231 (GRCm39) |
V167D |
probably damaging |
Het |
| Scpep1 |
T |
A |
11: 88,826,657 (GRCm39) |
I260F |
possibly damaging |
Het |
| Slc15a3 |
T |
A |
19: 10,834,609 (GRCm39) |
F497I |
probably damaging |
Het |
| Stom |
T |
C |
2: 35,205,941 (GRCm39) |
K263E |
probably damaging |
Het |
| Taf4b |
C |
A |
18: 14,946,611 (GRCm39) |
A478E |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,600,594 (GRCm39) |
|
probably benign |
Het |
| Wdr95 |
C |
T |
5: 149,535,062 (GRCm39) |
A598V |
possibly damaging |
Het |
|
| Other mutations in Rspo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00553:Rspo3
|
APN |
10 |
29,330,148 (GRCm39) |
critical splice donor site |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation