Incidental Mutation 'R0619:Rspo3'
ID 58543
Institutional Source Beutler Lab
Gene Symbol Rspo3
Ensembl Gene ENSMUSG00000019880
Gene Name R-spondin 3
Synonyms 2810459H04Rik, Cristin1, Thsd2
MMRRC Submission 038808-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0619 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 29329102-29411863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29380633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 127 (D127G)
Ref Sequence ENSEMBL: ENSMUSP00000090287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092623]
AlphaFold Q2TJ95
Predicted Effect probably damaging
Transcript: ENSMUST00000092623
AA Change: D127G

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000090287
Gene: ENSMUSG00000019880
AA Change: D127G

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: D31G
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adad2 G A 8: 120,339,739 (GRCm39) D74N probably benign Het
Adgre4 T A 17: 56,127,679 (GRCm39) V573D possibly damaging Het
Ak7 A G 12: 105,699,770 (GRCm39) K230E probably damaging Het
Amdhd2 T C 17: 24,375,562 (GRCm39) D375G possibly damaging Het
Anpep T C 7: 79,490,757 (GRCm39) E253G probably benign Het
Bbs7 A G 3: 36,661,725 (GRCm39) L158S probably benign Het
Bdp1 T C 13: 100,174,366 (GRCm39) T2057A probably benign Het
C2 G T 17: 35,091,479 (GRCm39) H61Q probably damaging Het
Ccdc18 A G 5: 108,328,282 (GRCm39) K661E probably benign Het
Cdh23 C T 10: 60,269,556 (GRCm39) V655I probably damaging Het
Cep78 T C 19: 15,956,226 (GRCm39) T238A probably damaging Het
Ces2a T A 8: 105,462,742 (GRCm39) N110K probably benign Het
Crat T C 2: 30,299,996 (GRCm39) D128G probably benign Het
Dclre1a A T 19: 56,533,841 (GRCm39) M233K probably benign Het
Dsg4 T C 18: 20,594,416 (GRCm39) V515A probably benign Het
Fer1l6 T C 15: 58,534,784 (GRCm39) probably null Het
Fryl T C 5: 73,226,074 (GRCm39) D1863G probably benign Het
Fsip2 T A 2: 82,774,484 (GRCm39) L57Q probably damaging Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
Iqsec1 T C 6: 90,647,388 (GRCm39) probably null Het
Kcnn3 A C 3: 89,559,337 (GRCm39) T536P probably damaging Het
Kctd3 T C 1: 188,710,840 (GRCm39) D441G probably damaging Het
Kifc3 G A 8: 95,829,293 (GRCm39) T528M probably benign Het
Kmt2c G A 5: 25,503,914 (GRCm39) T3798I probably benign Het
Map1a T A 2: 121,135,736 (GRCm39) M1946K probably damaging Het
Mfhas1 T A 8: 36,057,829 (GRCm39) V768E probably benign Het
Mroh8 C A 2: 157,107,001 (GRCm39) V223F possibly damaging Het
Mss51 A T 14: 20,537,641 (GRCm39) V30E probably benign Het
Mtmr10 G A 7: 63,970,961 (GRCm39) R392H probably benign Het
Mup3 T C 4: 62,004,198 (GRCm39) N105S probably benign Het
Myh7b T C 2: 155,453,642 (GRCm39) M22T probably benign Het
Or1o2 T A 17: 37,543,046 (GRCm39) I72F possibly damaging Het
Or2aj5 T A 16: 19,425,022 (GRCm39) Y132F probably damaging Het
Or5m9 T A 2: 85,877,655 (GRCm39) Y276* probably null Het
Os9 A G 10: 126,956,860 (GRCm39) I43T probably damaging Het
Pkhd1l1 T C 15: 44,347,234 (GRCm39) L200P probably damaging Het
Ptpru C T 4: 131,548,198 (GRCm39) V100M possibly damaging Het
Rnf6 G A 5: 146,147,531 (GRCm39) R496C possibly damaging Het
Rsad1 C T 11: 94,433,465 (GRCm39) R407Q probably damaging Het
Sbf2 T A 7: 109,909,469 (GRCm39) T1760S possibly damaging Het
Sh2d3c T A 2: 32,643,037 (GRCm39) V588E probably damaging Het
Siglech A T 7: 55,418,910 (GRCm39) T238S probably benign Het
Slc15a2 T A 16: 36,579,669 (GRCm39) N328I probably damaging Het
Slc16a11 G T 11: 70,105,858 (GRCm39) G94C probably damaging Het
Stub1 T C 17: 26,050,296 (GRCm39) probably null Het
Tacc2 T A 7: 130,318,483 (GRCm39) V40D probably damaging Het
Tagln3 C A 16: 45,544,635 (GRCm39) R12L probably damaging Het
Trappc14 A G 5: 138,262,088 (GRCm39) probably benign Het
Tsen54 A G 11: 115,705,890 (GRCm39) E69G probably damaging Het
Tsks A G 7: 44,600,258 (GRCm39) E150G probably damaging Het
Ubap2l A C 3: 89,924,527 (GRCm39) V680G probably benign Het
Usp16 A T 16: 87,269,052 (GRCm39) H315L probably benign Het
Vav2 A G 2: 27,186,133 (GRCm39) probably null Het
Zfc3h1 T C 10: 115,256,715 (GRCm39) F1562L possibly damaging Het
Zfp764 C A 7: 127,005,713 (GRCm39) V22L probably benign 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
IGL02166:Rspo3 APN 10 29,411,275 (GRCm39) missense possibly damaging 0.86
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
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
Predicted Primers PCR Primer
(F):5'- TGAGCCATCCTTAACAAGTAGCAGAAC -3'
(R):5'- CCAGCAGTAGTTTGGAGAACATGACAG -3'

Sequencing Primer
(F):5'- TACCCACAATACATGCAGGATATAG -3'
(R):5'- TTTGGAGAACATGACAGAGTGAC -3'
Posted On 2013-07-11