Incidental Mutation 'IGL03412:Rspo3'
ID 421852
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 # IGL03412
Quality Score
Status
Chromosome 10
Chromosomal Location 29329102-29411863 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29411270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 19 (I19F)
Ref Sequence ENSEMBL: ENSMUSP00000090287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092623]
AlphaFold Q2TJ95
Predicted Effect possibly damaging
Transcript: ENSMUST00000092623
AA Change: I19F

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090287
Gene: ENSMUSG00000019880
AA Change: I19F

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b A T 12: 113,455,390 (GRCm39) R736* probably null Het
Agpat2 T C 2: 26,483,673 (GRCm39) T255A probably benign Het
Akap3 G A 6: 126,841,688 (GRCm39) M102I probably benign Het
Cd300lb C A 11: 114,819,206 (GRCm39) R5M probably damaging Het
Chrna5 A T 9: 54,911,719 (GRCm39) D69V probably damaging Het
Col9a1 G A 1: 24,249,508 (GRCm39) probably null Het
Dnajb12 A T 10: 59,725,895 (GRCm39) H60L probably benign Het
Dnal1 T A 12: 84,182,441 (GRCm39) M1K probably null Het
Exoc7 C T 11: 116,180,101 (GRCm39) V655M possibly damaging Het
Fastkd3 A G 13: 68,731,840 (GRCm39) R54G probably benign Het
Fbln2 G A 6: 91,248,763 (GRCm39) D1143N probably damaging Het
Flii C T 11: 60,613,466 (GRCm39) V174M probably damaging Het
Gtf2h4 T C 17: 35,979,375 (GRCm39) I388M probably damaging Het
Il20rb A G 9: 100,357,049 (GRCm39) V27A probably benign Het
Kidins220 T C 12: 25,049,344 (GRCm39) S320P probably damaging Het
Kif1b T C 4: 149,359,396 (GRCm39) S114G probably benign Het
Lama3 T C 18: 12,552,239 (GRCm39) V397A probably damaging Het
Man2a2 A T 7: 80,016,746 (GRCm39) V356D probably damaging Het
Mcpt9 T G 14: 56,265,484 (GRCm39) T72P probably damaging Het
Mmd T C 11: 90,148,429 (GRCm39) probably null Het
Mroh2b G A 15: 4,973,854 (GRCm39) R1124Q probably benign Het
Mvp T C 7: 126,592,735 (GRCm39) D392G probably damaging Het
Mycbpap T A 11: 94,398,927 (GRCm39) probably null Het
Myh2 A G 11: 67,080,395 (GRCm39) H1203R probably benign Het
Nbeal1 T A 1: 60,281,726 (GRCm39) C816* probably null Het
Or4a70 T A 2: 89,324,555 (GRCm39) I34F probably benign Het
Or5an6 A T 19: 12,371,743 (GRCm39) T39S probably damaging Het
Pcdh12 C T 18: 38,416,568 (GRCm39) V186M probably benign Het
Pik3c2a C T 7: 116,017,074 (GRCm39) E228K probably benign Het
Plcz1 A C 6: 139,961,823 (GRCm39) Y243D probably damaging Het
Slc2a12 T C 10: 22,540,868 (GRCm39) L241P probably damaging Het
Slc4a10 G A 2: 62,080,887 (GRCm39) probably benign Het
Snai2 A T 16: 14,525,120 (GRCm39) T209S possibly damaging Het
Sorcs2 T C 5: 36,203,848 (GRCm39) D549G probably damaging Het
Srsf12 G A 4: 33,230,929 (GRCm39) R141Q probably damaging Het
Stab1 T G 14: 30,876,364 (GRCm39) E908D probably benign Het
Stat6 A T 10: 127,494,074 (GRCm39) M634L probably benign Het
Tex21 A G 12: 76,291,780 (GRCm39) probably null Het
Tsc2 C A 17: 24,816,042 (GRCm39) R1715L probably damaging Het
Ttll4 A G 1: 74,726,480 (GRCm39) I693V probably benign Het
Vmn1r5 A T 6: 56,962,918 (GRCm39) M198L possibly damaging Het
Vmn1r50 T C 6: 90,085,007 (GRCm39) Y251H probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Wdr3 G T 3: 100,059,293 (GRCm39) T342K probably benign Het
Zbtb44 A G 9: 30,964,763 (GRCm39) T58A probably benign Het
Zeb2 A G 2: 44,892,720 (GRCm39) probably benign Het
Zmym2 C T 14: 57,197,176 (GRCm39) Q1315* probably null Het
Zmym6 T C 4: 126,986,731 (GRCm39) I137T probably damaging 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
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 2016-08-02