Incidental Mutation 'R6791:Rspo1'
ID 532575
Institutional Source Beutler Lab
Gene Symbol Rspo1
Ensembl Gene ENSMUSG00000028871
Gene Name R-spondin 1
Synonyms Rspondin, R-spondin
MMRRC Submission 044904-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6791 (G1)
Quality Score 178.009
Status Validated
Chromosome 4
Chromosomal Location 124880223-124902892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124900976 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 108 (H108R)
Ref Sequence ENSEMBL: ENSMUSP00000030687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030687]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000030687
AA Change: H108R

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000030687
Gene: ENSMUSG00000028871
AA Change: H108R

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
FU 34 85 1.3e-3 SMART
FU 91 135 4.67e-5 SMART
TSP1 150 207 6.33e-7 SMART
low complexity region 209 220 N/A INTRINSIC
low complexity region 244 257 N/A INTRINSIC
Meta Mutation Damage Score 0.0579 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted activator protein with two cysteine-rich, furin-like domains and one thrombospondin type 1 domain. The encoded protein is a ligand for leucine-rich repeat-containing G-protein coupled receptors (LGR proteins) and positively regulates the Wnt signaling pathway. In mice, the protein induces the rapid onset of crypt cell proliferation and increases intestinal epithelial healing, providing a protective effect against chemotherapy-induced adverse effects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous inactivation of this gene leads to abnormal ovarian development and masculinized features including pseudohermaphroditism in genital ducts, depletion of fetal oocytes, male-like vascularization, and ectopic testosterone production in the ovaries. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,504 (GRCm39) C3526S probably damaging Het
Adgrf2 T C 17: 43,021,774 (GRCm39) N350S probably benign Het
Atp12a G A 14: 56,624,439 (GRCm39) probably null Het
AW551984 T G 9: 39,511,955 (GRCm39) S19R probably damaging Het
Bet1l A G 7: 140,434,418 (GRCm39) I77T possibly damaging Het
Cfap206 T C 4: 34,711,414 (GRCm39) I494M possibly damaging Het
Cog3 A G 14: 75,968,118 (GRCm39) I415T probably damaging Het
Col15a1 C T 4: 47,300,518 (GRCm39) P1060S probably damaging Het
Ctrb1 A G 8: 112,415,981 (GRCm39) V71A possibly damaging Het
Ddhd2 T C 8: 26,242,242 (GRCm39) Y211C probably benign Het
Fbxl20 T C 11: 98,000,336 (GRCm39) T128A probably benign Het
Fdps A G 3: 89,002,659 (GRCm39) probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm8369 T A 19: 11,489,200 (GRCm39) probably benign Het
Grm6 T C 11: 50,750,601 (GRCm39) V588A possibly damaging Het
Heatr6 T C 11: 83,649,167 (GRCm39) L174S probably benign Het
Kif1a G A 1: 92,993,859 (GRCm39) P364S probably damaging Het
Klk7 A G 7: 43,462,684 (GRCm39) D163G probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lamb3 T C 1: 193,017,169 (GRCm39) S787P possibly damaging Het
Lrp5 C T 19: 3,650,753 (GRCm39) C1227Y probably damaging Het
Mgst1 G A 6: 138,118,805 (GRCm39) probably benign Het
Mllt6 T C 11: 97,571,428 (GRCm39) S1022P probably damaging Het
Mtmr2 T C 9: 13,716,678 (GRCm39) I521T probably benign Het
Naalad2 T C 9: 18,296,426 (GRCm39) T75A possibly damaging Het
Nadsyn1 A T 7: 143,372,845 (GRCm39) I83N probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurl4 T A 11: 69,799,336 (GRCm39) L904Q probably damaging Het
Ngp A C 9: 110,249,017 (GRCm39) I30L probably benign Het
Or5af1 T C 11: 58,722,903 (GRCm39) Y308H probably benign Het
Or6c5c G A 10: 129,299,023 (GRCm39) M159I probably benign Het
Orm2 A T 4: 63,282,196 (GRCm39) M125L probably benign Het
Pax2 A T 19: 44,777,260 (GRCm39) D151V possibly damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Pramel11 T A 4: 143,622,252 (GRCm39) I368F probably benign Het
Prss16 A T 13: 22,190,237 (GRCm39) V307E probably damaging Het
Prss54 T G 8: 96,291,283 (GRCm39) probably null Het
Sh3bp5l C A 11: 58,237,098 (GRCm39) H352N probably damaging Het
Skor1 T C 9: 63,047,636 (GRCm39) probably null Het
Smad6 A G 9: 63,919,509 (GRCm39) Y289H probably benign Het
Spart G A 3: 55,034,982 (GRCm39) G456D probably damaging Het
Spg11 T C 2: 121,923,924 (GRCm39) E799G probably damaging Het
Tbc1d4 T G 14: 101,845,695 (GRCm39) K68Q probably damaging Het
Treml2 A G 17: 48,616,247 (GRCm39) M296V probably benign Het
Ugt2b1 C A 5: 87,067,116 (GRCm39) D436Y probably damaging Het
Usp9y A T Y: 1,325,042 (GRCm39) probably null Homo
Vmn2r6 T C 3: 64,445,580 (GRCm39) Y626C probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Zfp131 A G 13: 120,228,129 (GRCm39) V506A probably damaging Het
Zfp74 A G 7: 29,633,860 (GRCm39) I616T probably benign Het
Other mutations in Rspo1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01447:Rspo1 APN 4 124,898,829 (GRCm39) missense possibly damaging 0.93
IGL02728:Rspo1 APN 4 124,898,955 (GRCm39) missense probably damaging 1.00
R0076:Rspo1 UTSW 4 124,885,190 (GRCm39) missense probably benign 0.43
R0076:Rspo1 UTSW 4 124,885,190 (GRCm39) missense probably benign 0.43
R0077:Rspo1 UTSW 4 124,885,190 (GRCm39) missense probably benign 0.43
R0212:Rspo1 UTSW 4 124,885,190 (GRCm39) missense probably benign 0.43
R0441:Rspo1 UTSW 4 124,885,190 (GRCm39) missense probably benign 0.43
R0718:Rspo1 UTSW 4 124,900,942 (GRCm39) missense possibly damaging 0.90
R0883:Rspo1 UTSW 4 124,885,225 (GRCm39) splice site probably null
R1780:Rspo1 UTSW 4 124,901,538 (GRCm39) missense probably damaging 1.00
R7179:Rspo1 UTSW 4 124,898,831 (GRCm39) missense probably damaging 1.00
R7721:Rspo1 UTSW 4 124,885,210 (GRCm39) missense possibly damaging 0.63
R9240:Rspo1 UTSW 4 124,885,132 (GRCm39) missense probably benign 0.18
Predicted Primers PCR Primer
(F):5'- CTGTCGGAATCCCAACCTAG -3'
(R):5'- ACAGGTTGTTCCAGAAGGAG -3'

Sequencing Primer
(F):5'- GATCAAGATCCTGACCTCTTTGAGTG -3'
(R):5'- AGAGTGTAGTCGTGACCCG -3'
Posted On 2018-08-29