Incidental Mutation 'IGL02166:Rspo3'
ID282700
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 #IGL02166
Quality Score
Status
Chromosome10
Chromosomal Location29452416-29535867 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 29535279 bp
ZygosityHeterozygous
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]
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
2010111I01Rik A G 13: 63,015,453 H96R probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cdh8 T C 8: 99,190,451 D344G probably damaging Het
Cltc T C 11: 86,704,088 I1399V probably benign Het
Col4a1 A T 8: 11,244,509 probably benign Het
Crtc3 C T 7: 80,677,399 G60R probably damaging Het
Dscaml1 G A 9: 45,683,701 V701M probably damaging Het
Eif3b T A 5: 140,439,950 C632S possibly damaging Het
Ephb3 G A 16: 21,220,749 R417Q probably damaging Het
Fpr3 T C 17: 17,970,464 probably benign Het
Hpdl A G 4: 116,820,952 V104A probably damaging Het
Ighv1-55 T C 12: 115,208,220 S76G probably benign Het
Ikbip T C 10: 91,095,790 S99P probably damaging Het
Lnpk T C 2: 74,529,717 E318G probably damaging Het
Lrrc66 G A 5: 73,607,291 T803M probably damaging Het
Narfl A G 17: 25,780,320 D236G possibly damaging Het
Nxf2 C A X: 134,957,129 W89L possibly damaging Het
Olfr1176 A T 2: 88,339,678 I38F probably damaging Het
Olfr1381 A G 11: 49,551,930 Y61C probably damaging Het
Olfr803 T A 10: 129,691,913 I43F probably benign Het
Osbp2 A T 11: 3,717,983 C5S probably damaging Het
Ovol2 T C 2: 144,305,730 N200S possibly damaging Het
Ppp4r1 A G 17: 65,813,492 D207G probably benign Het
Prdm11 C T 2: 93,012,863 V84M probably damaging Het
Scarf2 A G 16: 17,803,756 N357D probably damaging Het
Scn9a A T 2: 66,493,103 D1447E possibly damaging Het
Sdad1 G A 5: 92,291,762 T433I probably benign Het
Seh1l A G 18: 67,785,023 N149S probably damaging Het
Sigirr T C 7: 141,092,227 I268M probably benign Het
Slc35d2 A G 13: 64,098,348 F282S probably damaging Het
Slc4a1 A T 11: 102,354,333 M596K probably damaging Het
Spta1 G A 1: 174,190,231 E494K probably damaging Het
Stk32b C A 5: 37,499,030 probably benign Het
Tex13b T C X: 140,812,726 E122G probably damaging Het
Tmem35a A G X: 134,304,608 N91S probably damaging Het
Tmem67 A G 4: 12,047,313 V841A possibly damaging Het
Trdv2-1 A G 14: 53,946,611 D100G probably benign Het
Tshz3 T C 7: 36,768,921 S112P probably benign Het
Tssc4 T C 7: 143,070,201 M82T probably benign Het
Ttn A G 2: 76,732,379 S28744P probably damaging Het
Unc45b C T 11: 82,940,181 probably benign Het
Vim T C 2: 13,574,594 S55P probably damaging Het
Zmat5 T A 11: 4,737,363 Y139N possibly damaging Het
Zswim2 G A 2: 83,915,406 Q563* probably null 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
IGL03078:Rspo3 APN 10 29504661 missense probably damaging 1.00
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 On2015-04-16