Incidental Mutation 'R4257:Rspo2'
| ID |
321871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rspo2
|
| Ensembl Gene |
ENSMUSG00000051920 |
| Gene Name |
R-spondin 2 |
| Synonyms |
ftls, 2610028F08Rik |
| MMRRC Submission |
041070-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4257 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
42884190-43034222 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 42939307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 161
(R161L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000154600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063492]
[ENSMUST00000226810]
|
| AlphaFold |
Q8BFU0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063492
AA Change: R161L
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000067325
Gene: ENSMUSG00000051920
AA Change: R161L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
FU
|
37 |
84 |
1.95e0 |
SMART |
|
FU
|
90 |
134 |
3.7e-8 |
SMART |
|
TSP1
|
147 |
204 |
7.45e-4 |
SMART |
|
low complexity region
|
207 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226402
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000226810
AA Change: R161L
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1128 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| 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 R-spondin family of proteins. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mice display perinatal lethality, cleft palate, lung hypoplasia, asymmetric limb malformations and abnormal renal development. Heterozygous females display reduced fertility with age. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
C |
T |
7: 126,430,662 (GRCm39) |
|
probably benign |
Het |
| 4930578I06Rik |
C |
T |
14: 64,210,658 (GRCm39) |
R190H |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,261,033 (GRCm39) |
I1219K |
probably damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,229,771 (GRCm39) |
|
probably benign |
Het |
| Arhgap24 |
A |
G |
5: 102,811,983 (GRCm39) |
E70G |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Babam2 |
T |
C |
5: 31,859,414 (GRCm39) |
S40P |
possibly damaging |
Het |
| Brwd1 |
A |
G |
16: 95,824,696 (GRCm39) |
V1190A |
probably damaging |
Het |
| Ccpg1 |
A |
G |
9: 72,919,909 (GRCm39) |
E508G |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,155,279 (GRCm39) |
S372P |
probably benign |
Het |
| Egflam |
T |
A |
15: 7,283,907 (GRCm39) |
|
probably null |
Het |
| Farp1 |
G |
A |
14: 121,492,891 (GRCm39) |
V498M |
probably benign |
Het |
| Galnt14 |
T |
A |
17: 73,811,899 (GRCm39) |
I441F |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,533,107 (GRCm39) |
L440P |
probably damaging |
Het |
| Gm6563 |
A |
G |
19: 23,653,339 (GRCm39) |
E43G |
possibly damaging |
Het |
| Gm9755 |
A |
T |
8: 67,967,129 (GRCm39) |
|
noncoding transcript |
Het |
| Gmds |
A |
G |
13: 32,004,172 (GRCm39) |
S337P |
possibly damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,156,020 (GRCm39) |
Q754L |
unknown |
Het |
| Ltk |
G |
A |
2: 119,583,485 (GRCm39) |
T300I |
possibly damaging |
Het |
| Or5d46 |
A |
C |
2: 88,170,621 (GRCm39) |
K237N |
probably damaging |
Het |
| Pbx2 |
C |
A |
17: 34,813,619 (GRCm39) |
H184Q |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,327,083 (GRCm39) |
F339S |
probably damaging |
Het |
| Prkaa2 |
A |
T |
4: 104,897,153 (GRCm39) |
D353E |
probably benign |
Het |
| Prss36 |
G |
A |
7: 127,532,010 (GRCm39) |
|
probably benign |
Het |
| Rimbp2 |
A |
G |
5: 128,851,324 (GRCm39) |
V874A |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,781,875 (GRCm39) |
D2038G |
possibly damaging |
Het |
| Stkld1 |
A |
G |
2: 26,833,146 (GRCm39) |
M111V |
probably benign |
Het |
| Tprn |
A |
G |
2: 25,154,494 (GRCm39) |
I599V |
probably damaging |
Het |
| Upp2 |
A |
T |
2: 58,670,106 (GRCm39) |
I219F |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,464,433 (GRCm39) |
F619Y |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,346,383 (GRCm39) |
T2875A |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,768,298 (GRCm39) |
L438P |
probably damaging |
Het |
|
| Other mutations in Rspo2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1505:Rspo2
|
UTSW |
15 |
42,939,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1866:Rspo2
|
UTSW |
15 |
42,939,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2913:Rspo2
|
UTSW |
15 |
42,941,510 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4082:Rspo2
|
UTSW |
15 |
42,885,933 (GRCm39) |
missense |
probably benign |
|
|
R4256:Rspo2
|
UTSW |
15 |
42,939,307 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4422:Rspo2
|
UTSW |
15 |
43,033,150 (GRCm39) |
missense |
probably benign |
|
|
R4715:Rspo2
|
UTSW |
15 |
42,939,300 (GRCm39) |
nonsense |
probably null |
|
|
R4810:Rspo2
|
UTSW |
15 |
43,033,216 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4829:Rspo2
|
UTSW |
15 |
42,956,583 (GRCm39) |
nonsense |
probably null |
|
|
R5720:Rspo2
|
UTSW |
15 |
43,033,210 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5828:Rspo2
|
UTSW |
15 |
42,939,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7487:Rspo2
|
UTSW |
15 |
42,941,510 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7571:Rspo2
|
UTSW |
15 |
43,033,372 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AATTTTCAGAAAGCAGGCAGC -3'
(R):5'- CAATGCTCTGTGACTTAAGCAAC -3'
Sequencing Primer
(F):5'- GCACATGAGCATAACTGTTTAGACC -3'
(R):5'- GCTCTGTGACTTAAGCAACTGTAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation