Incidental Mutation 'R0076:Rspo1'
| ID |
212549 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rspo1
|
| Ensembl Gene |
ENSMUSG00000028871 |
| Gene Name |
R-spondin 1 |
| Synonyms |
Rspondin, R-spondin |
| MMRRC Submission |
038363-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0076 (G1)
|
| Quality Score |
30 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
124880223-124902892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 124885190 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 22
(R22Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030687]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030687
AA Change: R22Q
PolyPhen 2
Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030687
Gene: ENSMUSG00000028871
AA Change: R22Q
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
FU
|
34 |
85 |
1.3e-3 |
SMART |
|
FU
|
91 |
135 |
4.67e-5 |
SMART |
|
TSP1
|
150 |
207 |
6.33e-7 |
SMART |
|
low complexity region
|
209 |
220 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
257 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146679
|
| Meta Mutation Damage Score |
0.1556 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous inactivation of this gene leads to abnormal ovarian development and masculinized features including pseudohermaphroditism in genital ducts, depletion of fetal oocytes, male-like vascularization, and ectopic testosterone production in the ovaries. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,201,417 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
| Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
| Ccnd1 |
A |
C |
7: 144,493,402 (GRCm39) |
V10G |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
| Cfap91 |
G |
A |
16: 38,123,046 (GRCm39) |
Q661* |
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
| Crlf3 |
A |
T |
11: 79,947,427 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
| Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
| Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
| Galntl5 |
A |
G |
5: 25,391,070 (GRCm39) |
|
probably null |
Het |
| Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
| Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
| Hnrnpa3 |
G |
T |
2: 75,492,040 (GRCm39) |
R52L |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,170 (GRCm39) |
M48T |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,053,383 (GRCm39) |
|
probably null |
Het |
| Pex3 |
A |
G |
10: 13,411,338 (GRCm39) |
V180A |
probably benign |
Het |
| Pou6f1 |
G |
A |
15: 100,485,717 (GRCm39) |
Q106* |
probably null |
Het |
| Ror2 |
T |
C |
13: 53,267,110 (GRCm39) |
M442V |
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,328,315 (GRCm39) |
V244A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
| Sgcz |
A |
G |
8: 38,012,596 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
T |
10: 125,063,939 (GRCm39) |
V466D |
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,949 (GRCm39) |
D74E |
probably benign |
Het |
| Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,080 (GRCm39) |
S184P |
probably benign |
Het |
|
| Other mutations in Rspo1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01447:Rspo1
|
APN |
4 |
124,898,829 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02728:Rspo1
|
APN |
4 |
124,898,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0076:Rspo1
|
UTSW |
4 |
124,885,190 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0077:Rspo1
|
UTSW |
4 |
124,885,190 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0212:Rspo1
|
UTSW |
4 |
124,885,190 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0441:Rspo1
|
UTSW |
4 |
124,885,190 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0718:Rspo1
|
UTSW |
4 |
124,900,942 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0883:Rspo1
|
UTSW |
4 |
124,885,225 (GRCm39) |
splice site |
probably null |
|
|
R1780:Rspo1
|
UTSW |
4 |
124,901,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6791:Rspo1
|
UTSW |
4 |
124,900,976 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7179:Rspo1
|
UTSW |
4 |
124,898,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7721:Rspo1
|
UTSW |
4 |
124,885,210 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9240:Rspo1
|
UTSW |
4 |
124,885,132 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGGTCCCAGTATTAGGATGCAAG -3'
(R):5'- TCCACTGTGCTCACAAAGCAGG -3'
Sequencing Primer
(F):5'- CCTGAGTTCTACAAAGTCCAGGG -3'
(R):5'- CTCACAAAGCAGGGACAAATG -3'
|
| Posted On |
2014-07-09 |
Incidental Mutation