Incidental Mutation 'R7882:Rspo4'
ID 608807
Institutional Source Beutler Lab
Gene Symbol Rspo4
Ensembl Gene ENSMUSG00000032852
Gene Name R-spondin 4
Synonyms A930029K19Rik
MMRRC Submission 045934-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7882 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 151684847-151716588 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 151711746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 156 (T156N)
Ref Sequence ENSEMBL: ENSMUSP00000041578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042217]
AlphaFold Q8BJ73
Predicted Effect probably damaging
Transcript: ENSMUST00000042217
AA Change: T156N

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041578
Gene: ENSMUSG00000032852
AA Change: T156N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
FU 32 79 1.64e0 SMART
FU 85 128 1.98e-8 SMART
TSP1 141 197 1.3e-3 SMART
low complexity region 200 222 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (48/48)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the R-spondin family of proteins that share a common domain organization consisting of a signal peptide, cysteine-rich/furin-like domain, thrombospondin domain and a C-terminal basic region. The encoded protein may be involved in activation of Wnt/beta-catenin signaling pathways. Mutations in this gene are associated with anonychia congenital. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2009]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm C A 3: 153,644,250 (GRCm39) E110* probably null Het
Adad1 G T 3: 37,133,951 (GRCm39) V289F probably damaging Het
Adgra2 A G 8: 27,607,440 (GRCm39) D717G probably benign Het
Arid3b T C 9: 57,703,780 (GRCm39) I389M possibly damaging Het
Axdnd1 A G 1: 156,225,023 (GRCm39) V47A Het
Cachd1 T A 4: 100,824,244 (GRCm39) L562M probably benign Het
Cadm2 A T 16: 66,528,357 (GRCm39) I326N probably benign Het
Ccpg1 T C 9: 72,922,787 (GRCm39) F799S probably damaging Het
Ces1c T C 8: 93,833,231 (GRCm39) I411M probably benign Het
Cgn T G 3: 94,669,941 (GRCm39) K1066N probably damaging Het
Cntn4 A G 6: 106,330,684 (GRCm39) I101V probably benign Het
Cntrl A G 2: 35,060,592 (GRCm39) E1928G probably benign Het
Cxcl12 A G 6: 117,148,464 (GRCm39) Y28C probably damaging Het
Cyp2r1 A T 7: 114,153,824 (GRCm39) probably null Het
D430041D05Rik C T 2: 104,087,974 (GRCm39) W334* probably null Het
Dsp G A 13: 38,367,994 (GRCm39) R671Q possibly damaging Het
Fancm A G 12: 65,173,568 (GRCm39) K1960R probably benign Het
Fgd5 T A 6: 92,045,459 (GRCm39) Y1331N probably damaging Het
Ina G A 19: 47,004,100 (GRCm39) E303K Het
Kctd3 C A 1: 188,715,243 (GRCm39) V369F possibly damaging Het
Kif14 T C 1: 136,399,314 (GRCm39) probably null Het
Kif14 T C 1: 136,443,763 (GRCm39) V1312A probably benign Het
Krt84 T C 15: 101,436,826 (GRCm39) I403V probably benign Het
Krtap9-1 A C 11: 99,764,356 (GRCm39) T31P unknown Het
Lyrm9 A T 11: 78,728,967 (GRCm39) I60F probably damaging Het
Mast1 A G 8: 85,639,947 (GRCm39) probably null Het
Mmp28 T C 11: 83,334,752 (GRCm39) D334G probably damaging Het
Nr1h5 T C 3: 102,856,931 (GRCm39) T194A possibly damaging Het
Nrf1 A G 6: 30,090,299 (GRCm39) I85M probably benign Het
Nrp2 C T 1: 62,822,680 (GRCm39) R758C probably damaging Het
Or5b116 A T 19: 13,422,951 (GRCm39) T192S probably benign Het
Pcdhga4 A G 18: 37,819,681 (GRCm39) D410G probably damaging Het
Pld1 T C 3: 28,099,158 (GRCm39) V275A probably damaging Het
Plxnc1 A T 10: 94,679,698 (GRCm39) F895I probably benign Het
Polr2a A G 11: 69,627,000 (GRCm39) I1486T possibly damaging Het
Ptprz1 A G 6: 23,002,256 (GRCm39) M1449V probably benign Het
Sacs A G 14: 61,444,520 (GRCm39) I2189V probably benign Het
Stat5b A C 11: 100,674,601 (GRCm39) F711V possibly damaging Het
Stk11ip C A 1: 75,506,108 (GRCm39) Q543K probably benign Het
Tarbp1 G A 8: 127,183,232 (GRCm39) T529M probably damaging Het
Thada A T 17: 84,736,624 (GRCm39) C886S possibly damaging Het
Tmem19 A G 10: 115,179,608 (GRCm39) F296S probably benign Het
Tnfsf13b A G 8: 10,057,078 (GRCm39) N79S not run Het
Vdac3 C A 8: 23,069,073 (GRCm39) G214C probably damaging Het
Vmn2r18 A C 5: 151,485,329 (GRCm39) F722V probably damaging Het
Vmn2r45 A G 7: 8,486,409 (GRCm39) L293S possibly damaging Het
Vmn2r88 C G 14: 51,650,503 (GRCm39) A72G probably benign Het
Xpot A G 10: 121,454,996 (GRCm39) probably null Het
Zfp526 G A 7: 24,920,860 (GRCm39) probably benign Het
Zfp532 A G 18: 65,756,561 (GRCm39) T165A probably benign Het
Other mutations in Rspo4
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4362001:Rspo4 UTSW 2 151,709,803 (GRCm39) nonsense probably null
R1245:Rspo4 UTSW 2 151,709,846 (GRCm39) missense probably damaging 1.00
R2044:Rspo4 UTSW 2 151,715,013 (GRCm39) missense unknown
R4736:Rspo4 UTSW 2 151,685,054 (GRCm39) missense probably benign 0.00
R6973:Rspo4 UTSW 2 151,709,735 (GRCm39) missense probably damaging 1.00
R7060:Rspo4 UTSW 2 151,714,998 (GRCm39) missense unknown
R7366:Rspo4 UTSW 2 151,709,793 (GRCm39) missense probably damaging 1.00
R7473:Rspo4 UTSW 2 151,714,993 (GRCm39) missense unknown
RF006:Rspo4 UTSW 2 151,709,797 (GRCm39) splice site probably null
Predicted Primers PCR Primer
(F):5'- GCAACAGACTAAGTTCCTTGC -3'
(R):5'- TGGCCTTTCAAATGGTCTTGC -3'

Sequencing Primer
(F):5'- CATGTAGAGATGGTATCCTCAGACC -3'
(R):5'- GCCTTTCAAATGGTCTTGCAGATATC -3'
Posted On 2019-12-20