Incidental Mutation 'R5720:Rspo2'
ID |
451424 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rspo2
|
Ensembl Gene |
ENSMUSG00000051920 |
Gene Name |
R-spondin 2 |
Synonyms |
ftls, 2610028F08Rik |
MMRRC Submission |
043188-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5720 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
42884190-43034222 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43033210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 4
(C4Y)
|
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: C4Y
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000067325 Gene: ENSMUSG00000051920 AA Change: C4Y
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: C4Y
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
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 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: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef10l |
AGAGGAGGAGGAGGAGGA |
AGAGGAGGAGGAGGA |
4: 140,308,930 (GRCm39) |
|
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,228,802 (GRCm39) |
T1125A |
possibly damaging |
Het |
Cplane1 |
T |
A |
15: 8,233,171 (GRCm39) |
N1165K |
probably benign |
Het |
Ctf1 |
A |
T |
7: 127,316,174 (GRCm39) |
|
probably null |
Het |
Defb26 |
T |
C |
2: 152,350,122 (GRCm39) |
N53D |
possibly damaging |
Het |
Dhtkd1 |
T |
C |
2: 5,907,825 (GRCm39) |
T787A |
probably damaging |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fbxl7 |
A |
G |
15: 26,552,979 (GRCm39) |
L96P |
probably damaging |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Gpr65 |
A |
T |
12: 98,241,361 (GRCm39) |
S5C |
probably damaging |
Het |
Greb1l |
G |
A |
18: 10,542,427 (GRCm39) |
E1341K |
probably damaging |
Het |
Itga8 |
G |
A |
2: 12,115,898 (GRCm39) |
S76L |
probably damaging |
Het |
Mpdz |
A |
T |
4: 81,205,931 (GRCm39) |
F1810Y |
probably damaging |
Het |
Nfrkb |
T |
C |
9: 31,306,038 (GRCm39) |
L126P |
probably damaging |
Het |
Or4a77 |
T |
C |
2: 89,487,299 (GRCm39) |
Y162C |
probably benign |
Het |
Primpol |
A |
G |
8: 47,034,677 (GRCm39) |
V417A |
probably damaging |
Het |
Pus1 |
C |
T |
5: 110,925,584 (GRCm39) |
E79K |
probably damaging |
Het |
Serpina12 |
T |
C |
12: 104,004,563 (GRCm39) |
D23G |
probably benign |
Het |
Serpind1 |
A |
T |
16: 17,157,696 (GRCm39) |
R297S |
probably benign |
Het |
Skint8 |
C |
A |
4: 111,807,390 (GRCm39) |
L359M |
probably damaging |
Het |
Slc17a6 |
C |
T |
7: 51,275,145 (GRCm39) |
P68L |
probably damaging |
Het |
Slc6a5 |
C |
T |
7: 49,606,264 (GRCm39) |
P724L |
possibly damaging |
Het |
Spaca7 |
A |
G |
8: 12,649,004 (GRCm39) |
E166G |
possibly damaging |
Het |
Supt5 |
A |
G |
7: 28,021,993 (GRCm39) |
S345P |
probably damaging |
Het |
Syne2 |
G |
A |
12: 76,014,441 (GRCm39) |
D3211N |
probably benign |
Het |
Tmem132e |
G |
A |
11: 82,333,276 (GRCm39) |
|
probably null |
Het |
Trappc14 |
A |
G |
5: 138,261,964 (GRCm39) |
V44A |
probably benign |
Het |
Zfp384 |
T |
C |
6: 125,013,587 (GRCm39) |
S536P |
probably benign |
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 |
R4257: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 |
|
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'- ACCCTGAGAATGGTCAGTGG -3'
(R):5'- TGGAGGGAGAGATGCTCATC -3'
Sequencing Primer
(F):5'- CTGAGAATGGTCAGTGGTAGCCC -3'
(R):5'- TCGAGCCAAATTGATCATTGCAGC -3'
|
Posted On |
2017-01-03 |