Incidental Mutation 'IGL01726:Rspo3'
ID105266
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 #IGL01726
Quality Score
Status
Chromosome10
Chromosomal Location29452416-29535867 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 29504708 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 103 (D103E)
Ref Sequence ENSEMBL: ENSMUSP00000090287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092623]
Predicted Effect probably benign
Transcript: ENSMUST00000092623
AA Change: D103E

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090287
Gene: ENSMUSG00000019880
AA Change: D103E

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: D7E
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T C 3: 89,730,840 probably null Het
Arpc2 A G 1: 74,248,179 T53A probably benign Het
Ccdc170 C A 10: 4,549,713 L545M probably benign Het
Ccm2l T C 2: 153,080,901 probably benign Het
Celsr1 T C 15: 85,926,190 N2166D probably benign Het
Clca4b T G 3: 144,928,342 D104A probably damaging Het
Clcnka C T 4: 141,392,740 probably null Het
Clip2 A T 5: 134,522,664 N201K probably damaging Het
Cyp1a2 G A 9: 57,682,202 L110F possibly damaging Het
Dhtkd1 T C 2: 5,942,656 T6A unknown Het
Enthd1 A C 15: 80,452,451 L594R probably damaging Het
Espnl A G 1: 91,344,904 D618G probably benign Het
Gm6096 A T 7: 34,251,479 I148F probably damaging Het
Hsf5 C T 11: 87,636,125 T541I probably benign Het
Il18r1 A G 1: 40,498,403 S443G possibly damaging Het
Il1a T C 2: 129,304,720 D151G possibly damaging Het
Ints1 A G 5: 139,768,411 probably benign Het
Kcnh1 A C 1: 192,505,856 D875A possibly damaging Het
Naip6 T A 13: 100,303,252 I336F probably benign Het
Napepld A G 5: 21,675,659 F246S possibly damaging Het
Nova1 C T 12: 46,713,497 probably null Het
Nsa2 C A 13: 97,132,017 A181S probably damaging Het
Ntn5 C A 7: 45,694,247 R337S probably damaging Het
Nynrin T C 14: 55,864,154 S427P probably benign Het
Olfr678 A G 7: 105,069,629 E54G probably damaging Het
Pcgf1 T A 6: 83,078,886 probably null Het
Pfn4 T A 12: 4,774,446 L58I probably benign Het
Plekha1 C A 7: 130,897,329 P116Q probably damaging Het
Pou5f2 T C 13: 78,025,181 S81P possibly damaging Het
Prag1 A G 8: 36,102,992 D243G probably damaging Het
Rbm26 G A 14: 105,152,507 P227L probably damaging Het
Rgl1 A T 1: 152,519,153 N756K probably damaging Het
Rhou A T 8: 123,654,141 T66S possibly damaging Het
Rundc3b T C 5: 8,520,902 K306E probably benign Het
Slc25a32 A G 15: 39,102,071 probably benign Het
St6galnac2 C T 11: 116,685,119 D169N probably damaging Het
Tarsl2 A G 7: 65,682,818 T556A possibly damaging Het
Tmem266 A G 9: 55,435,202 K324E probably benign Het
Tnrc6c T C 11: 117,749,335 probably benign Het
Trappc9 A T 15: 72,946,122 S452T probably damaging Het
Tspear T A 10: 77,881,287 probably benign Het
Ttll5 T G 12: 85,918,934 I571S probably benign Het
Ttn T C 2: 76,967,089 T544A probably benign Het
Ubn1 T C 16: 5,073,470 probably null Het
Ubr2 C A 17: 46,992,981 probably benign Het
Usp21 A T 1: 171,284,001 W360R probably damaging Het
Vmn2r62 A T 7: 42,765,102 L639H probably damaging Het
Zc3h7b T A 15: 81,771,799 I116N possibly damaging Het
Zfp618 C T 4: 63,132,635 T551I probably damaging Het
Zfp804b T C 5: 7,180,707 probably benign Het
Zkscan8 T C 13: 21,520,803 H322R probably benign Het
Zwint T G 10: 72,657,187 probably null Het
Other mutations in Rspo3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00553:Rspo3 APN 10 29454152 critical splice donor site probably benign
IGL02030:Rspo3 APN 10 29500048 missense probably damaging 1.00
IGL02166:Rspo3 APN 10 29535279 missense possibly damaging 0.86
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 On2014-01-21