Incidental Mutation 'IGL03078:Rspo3'
ID417752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rspo3
Ensembl Gene ENSMUSG00000019880
Gene NameR-spondin 3
Synonyms2810459H04Rik, Thsd2, Cristin1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03078
Quality Score
Status
Chromosome10
Chromosomal Location29452416-29535867 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 29504661 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 119 (Y119C)
Ref Sequence ENSEMBL: ENSMUSP00000090287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092623]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,276,545 K1482* probably null Het
Adam15 A G 3: 89,345,937 probably benign Het
Adamdec1 C T 14: 68,568,850 R392H possibly damaging Het
Anxa7 T C 14: 20,456,556 K439E probably damaging Het
Arap2 T A 5: 62,733,065 probably benign Het
Asic5 A G 3: 82,014,428 E367G possibly damaging Het
Btbd11 C T 10: 85,632,163 A774V probably damaging Het
Cubn T C 2: 13,287,094 T3307A possibly damaging Het
Dnd1 T C 18: 36,766,144 E8G probably damaging Het
Eif2ak1 T C 5: 143,873,769 I99T probably benign Het
Fras1 C T 5: 96,636,135 R833C probably damaging Het
Hectd1 A G 12: 51,802,236 S362P probably damaging Het
Hs3st4 A G 7: 124,397,446 E445G probably damaging Het
Kcnh1 A G 1: 192,434,800 T21A probably damaging Het
Kif26b G A 1: 178,870,726 R594H probably damaging Het
Lsm14b T C 2: 180,026,728 I74T probably damaging Het
Myh2 T A 11: 67,190,430 S1291T probably benign Het
Myo3b T A 2: 70,286,991 F923I probably damaging Het
Obscn T C 11: 59,078,798 probably null Het
Olfr583 T C 7: 103,051,829 F177S probably damaging Het
Olfr920 C T 9: 38,756,245 Q186* probably null Het
Piezo2 A C 18: 63,070,075 M1484R probably damaging Het
Rhoh T A 5: 65,892,888 V167D probably damaging Het
Scpep1 T A 11: 88,935,831 I260F possibly damaging Het
Slc15a3 T A 19: 10,857,245 F497I probably damaging Het
Stom T C 2: 35,315,929 K263E probably damaging Het
Taf4b C A 18: 14,813,554 A478E possibly damaging Het
Ttn C T 2: 76,770,250 probably benign Het
Wdr95 C T 5: 149,611,597 A598V possibly damaging Het
Other mutations in Rspo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Rspo3 APN 10 29454152 critical splice donor site probably benign
IGL01726:Rspo3 APN 10 29504708 missense probably benign 0.40
IGL02030:Rspo3 APN 10 29500048 missense probably damaging 1.00
IGL02166:Rspo3 APN 10 29535279 missense possibly damaging 0.86
IGL03412:Rspo3 APN 10 29535274 missense possibly damaging 0.61
R0619:Rspo3 UTSW 10 29504637 missense probably damaging 0.97
R0762:Rspo3 UTSW 10 29499921 splice site probably benign
R0831:Rspo3 UTSW 10 29454257 missense unknown
R4937:Rspo3 UTSW 10 29506528 missense probably damaging 1.00
R5031:Rspo3 UTSW 10 29506447 missense probably damaging 1.00
R5356:Rspo3 UTSW 10 29500068 nonsense probably null
R6285:Rspo3 UTSW 10 29499930 critical splice donor site probably null
R6606:Rspo3 UTSW 10 29454281 missense unknown
Posted On2016-08-02