Incidental Mutation 'IGL02166:Rspo3'
ID 282700
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) question?
Stock # IGL02166
Quality Score
Status
Chromosome 10
Chromosomal Location 29329102-29411863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29411275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 17 (E17V)
Ref Sequence ENSEMBL: ENSMUSP00000090287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092623]
AlphaFold Q2TJ95
Predicted Effect possibly damaging
Transcript: ENSMUST00000092623
AA Change: E17V

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000090287
Gene: ENSMUSG00000019880
AA Change: E17V

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 noncoding transcript
Transcript: ENSMUST00000215560
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aopep A G 13: 63,163,267 (GRCm39) H96R probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Cdh8 T C 8: 99,917,083 (GRCm39) D344G probably damaging Het
Ciao3 A G 17: 25,999,294 (GRCm39) D236G possibly damaging Het
Cltc T C 11: 86,594,914 (GRCm39) I1399V probably benign Het
Col4a1 A T 8: 11,294,509 (GRCm39) probably benign Het
Crtc3 C T 7: 80,327,147 (GRCm39) G60R probably damaging Het
Dscaml1 G A 9: 45,594,999 (GRCm39) V701M probably damaging Het
Eif3b T A 5: 140,425,705 (GRCm39) C632S possibly damaging Het
Ephb3 G A 16: 21,039,499 (GRCm39) R417Q probably damaging Het
Fpr3 T C 17: 18,190,726 (GRCm39) probably benign Het
Hpdl A G 4: 116,678,149 (GRCm39) V104A probably damaging Het
Ighv1-55 T C 12: 115,171,840 (GRCm39) S76G probably benign Het
Ikbip T C 10: 90,931,652 (GRCm39) S99P probably damaging Het
Lnpk T C 2: 74,360,061 (GRCm39) E318G probably damaging Het
Lrrc66 G A 5: 73,764,634 (GRCm39) T803M probably damaging Het
Nxf2 C A X: 133,857,878 (GRCm39) W89L possibly damaging Het
Or2y11 A G 11: 49,442,757 (GRCm39) Y61C probably damaging Het
Or5d46 A T 2: 88,170,022 (GRCm39) I38F probably damaging Het
Or6c3b T A 10: 129,527,782 (GRCm39) I43F probably benign Het
Osbp2 A T 11: 3,667,983 (GRCm39) C5S probably damaging Het
Ovol2 T C 2: 144,147,650 (GRCm39) N200S possibly damaging Het
Ppp4r1 A G 17: 66,120,487 (GRCm39) D207G probably benign Het
Prdm11 C T 2: 92,843,208 (GRCm39) V84M probably damaging Het
Scarf2 A G 16: 17,621,620 (GRCm39) N357D probably damaging Het
Scn9a A T 2: 66,323,447 (GRCm39) D1447E possibly damaging Het
Sdad1 G A 5: 92,439,621 (GRCm39) T433I probably benign Het
Seh1l A G 18: 67,918,093 (GRCm39) N149S probably damaging Het
Sigirr T C 7: 140,672,140 (GRCm39) I268M probably benign Het
Slc35d2 A G 13: 64,246,162 (GRCm39) F282S probably damaging Het
Slc4a1 A T 11: 102,245,159 (GRCm39) M596K probably damaging Het
Spta1 G A 1: 174,017,797 (GRCm39) E494K probably damaging Het
Stk32b C A 5: 37,656,374 (GRCm39) probably benign Het
Tex13b T C X: 139,713,475 (GRCm39) E122G probably damaging Het
Tmem35a A G X: 133,205,357 (GRCm39) N91S probably damaging Het
Tmem67 A G 4: 12,047,313 (GRCm39) V841A possibly damaging Het
Trdv2-1 A G 14: 54,184,068 (GRCm39) D100G probably benign Het
Tshz3 T C 7: 36,468,346 (GRCm39) S112P probably benign Het
Tssc4 T C 7: 142,623,938 (GRCm39) M82T probably benign Het
Ttn A G 2: 76,562,723 (GRCm39) S28744P probably damaging Het
Unc45b C T 11: 82,831,007 (GRCm39) probably benign Het
Vim T C 2: 13,579,405 (GRCm39) S55P probably damaging Het
Zmat5 T A 11: 4,687,363 (GRCm39) Y139N possibly damaging Het
Zswim2 G A 2: 83,745,750 (GRCm39) Q563* probably null Het
Other mutations in Rspo3
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL03078:Rspo3 APN 10 29,380,657 (GRCm39) missense probably damaging 1.00
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 2015-04-16