Incidental Mutation 'R4256:Rspo2'
ID 321833
Institutional Source Beutler Lab
Gene Symbol Rspo2
Ensembl Gene ENSMUSG00000051920
Gene Name R-spondin 2
Synonyms ftls, 2610028F08Rik
MMRRC Submission 041069-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4256 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 42884190-43034222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 42939307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 161 (R161L)
Ref Sequence ENSEMBL: ENSMUSP00000154600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063492] [ENSMUST00000226810]
AlphaFold Q8BFU0
Predicted Effect probably benign
Transcript: ENSMUST00000063492
AA Change: R161L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000067325
Gene: ENSMUSG00000051920
AA Change: R161L

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
FU 37 84 1.95e0 SMART
FU 90 134 3.7e-8 SMART
TSP1 147 204 7.45e-4 SMART
low complexity region 207 223 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226402
Predicted Effect probably benign
Transcript: ENSMUST00000226810
AA Change: R161L

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.1128 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (41/44)
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. These proteins are secreted ligands of leucine-rich repeat containing G protein-coupled receptors that enhance Wnt signaling through the inhibition of ubiquitin E3 ligases. A chromosomal translocation including this locus that results in the formation of a gene fusion has been identified in multiple human cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mice display perinatal lethality, cleft palate, lung hypoplasia, asymmetric limb malformations and abnormal renal development. Heterozygous females display reduced fertility with age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
Arsi T C 18: 61,050,388 (GRCm39) W424R probably damaging Het
Atad2 A G 15: 57,980,252 (GRCm39) S411P probably damaging Het
Cdhr2 G A 13: 54,861,818 (GRCm39) V72I probably damaging Het
Celf4 T C 18: 25,624,258 (GRCm39) I414V probably damaging Het
Cfap43 G A 19: 47,770,844 (GRCm39) T689I probably benign Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cyp3a11 A T 5: 145,806,005 (GRCm39) S121T probably benign Het
Dip2c C A 13: 9,659,092 (GRCm39) Q864K probably damaging Het
Fbxo3 A G 2: 103,881,510 (GRCm39) T281A probably damaging Het
Gm5148 T A 3: 37,768,758 (GRCm39) H154L unknown Het
Gsdma2 T A 11: 98,542,758 (GRCm39) probably null Het
Hfm1 T C 5: 107,052,663 (GRCm39) I273M possibly damaging Het
Hspa4l A G 3: 40,700,435 (GRCm39) E14G probably benign Het
Inava G T 1: 136,142,088 (GRCm39) N670K probably benign Het
Lgals12 T G 19: 7,584,081 (GRCm39) E5D possibly damaging Het
Lsg1 T G 16: 30,392,061 (GRCm39) I237L probably benign Het
Mettl14 T C 3: 123,177,254 (GRCm39) E49G probably damaging Het
Nbeal1 A G 1: 60,370,107 (GRCm39) I2675V probably benign Het
Or2y1e A T 11: 49,218,304 (GRCm39) Q22L probably benign Het
Or4b1b A T 2: 90,112,406 (GRCm39) V171E probably damaging Het
Or5k15 T G 16: 58,710,143 (GRCm39) S147R probably benign Het
Padi1 A T 4: 140,542,089 (GRCm39) L611Q probably damaging Het
Pcdhac2 A G 18: 37,277,764 (GRCm39) D248G probably damaging Het
Plekhm1 C A 11: 103,261,760 (GRCm39) R940L probably damaging Het
Rasa3 A G 8: 13,664,532 (GRCm39) probably null Het
Sacs A G 14: 61,443,786 (GRCm39) Y1944C probably damaging Het
Slc7a10 G T 7: 34,898,140 (GRCm39) M297I probably damaging Het
Spata31e3 A C 13: 50,404,141 (GRCm39) S54A probably benign Het
Ssh2 A G 11: 77,299,009 (GRCm39) T112A possibly damaging Het
Ttc7 A T 17: 87,628,829 (GRCm39) probably null Het
Vmn1r64 T A 7: 5,886,895 (GRCm39) H216L probably benign Het
Vmn2r112 A G 17: 22,837,393 (GRCm39) K618R probably damaging Het
Vmp1 T A 11: 86,552,014 (GRCm39) I117L probably benign Het
Vsnl1 A T 12: 11,382,056 (GRCm39) Y108* probably null Het
Wdr31 A G 4: 62,375,675 (GRCm39) probably null Het
Zfp329 A G 7: 12,541,840 (GRCm39) V284A probably benign Het
Zfp551 G A 7: 12,150,318 (GRCm39) H364Y possibly damaging Het
Other mutations in Rspo2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1505:Rspo2 UTSW 15 42,939,239 (GRCm39) missense probably damaging 1.00
R1866:Rspo2 UTSW 15 42,939,332 (GRCm39) missense probably damaging 1.00
R2913:Rspo2 UTSW 15 42,941,510 (GRCm39) missense probably benign 0.00
R4082:Rspo2 UTSW 15 42,885,933 (GRCm39) missense probably benign
R4257:Rspo2 UTSW 15 42,939,307 (GRCm39) missense probably benign 0.43
R4422:Rspo2 UTSW 15 43,033,150 (GRCm39) missense probably benign
R4715:Rspo2 UTSW 15 42,939,300 (GRCm39) nonsense probably null
R4810:Rspo2 UTSW 15 43,033,216 (GRCm39) missense probably benign 0.24
R4829:Rspo2 UTSW 15 42,956,583 (GRCm39) nonsense probably null
R5720:Rspo2 UTSW 15 43,033,210 (GRCm39) missense probably benign 0.13
R5828:Rspo2 UTSW 15 42,939,283 (GRCm39) missense probably damaging 1.00
R7487:Rspo2 UTSW 15 42,941,510 (GRCm39) missense probably benign 0.25
R7571:Rspo2 UTSW 15 43,033,372 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AATTTTCAGAAAGCAGGCAGC -3'
(R):5'- AATGCTCTGTGACTTAAGCAACTG -3'

Sequencing Primer
(F):5'- GCACATGAGCATAACTGTTTAGACC -3'
(R):5'- CTGTGACTTAAGCAACTGTAGTTCC -3'
Posted On 2015-06-20