Incidental Mutation 'R5828:Rspo2'
ID 450291
Institutional Source Beutler Lab
Gene Symbol Rspo2
Ensembl Gene ENSMUSG00000051920
Gene Name R-spondin 2
Synonyms ftls, 2610028F08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5828 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 42884190-43034222 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 42939283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 169 (L169Q)
Ref Sequence ENSEMBL: ENSMUSP00000154600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063492] [ENSMUST00000226810]
AlphaFold Q8BFU0
Predicted Effect probably damaging
Transcript: ENSMUST00000063492
AA Change: L169Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067325
Gene: ENSMUSG00000051920
AA Change: L169Q

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 damaging
Transcript: ENSMUST00000226810
AA Change: L169Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Meta Mutation Damage Score 0.0873 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (63/63)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,432,144 (GRCm39) D95G unknown Het
Arl10 T A 13: 54,726,768 (GRCm39) V182E probably damaging Het
Cacna1g T G 11: 94,347,980 (GRCm39) S703R probably damaging Het
Ces2a C A 8: 105,465,956 (GRCm39) T363N probably benign Het
Col14a1 G A 15: 55,300,372 (GRCm39) V967I unknown Het
Col22a1 A T 15: 71,881,340 (GRCm39) F4I probably benign Het
D630045J12Rik A G 6: 38,173,302 (GRCm39) W289R possibly damaging Het
Disc1 A G 8: 125,977,763 (GRCm39) Q793R probably damaging Het
Dnhd1 C T 7: 105,369,388 (GRCm39) T4337I probably benign Het
Eif2b5 T A 16: 20,321,536 (GRCm39) V363D possibly damaging Het
Emsy T C 7: 98,242,699 (GRCm39) T1147A probably benign Het
Epg5 T A 18: 78,064,066 (GRCm39) Y2048N probably damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Foxred1 A G 9: 35,121,492 (GRCm39) probably benign Het
Gpaa1 T C 15: 76,216,471 (GRCm39) probably benign Het
Gria4 A C 9: 4,432,832 (GRCm39) L784V probably damaging Het
Homer3 A G 8: 70,738,956 (GRCm39) Y105C probably benign Het
Hpgd T C 8: 56,772,106 (GRCm39) S193P probably benign Het
Irf1 T A 11: 53,666,762 (GRCm39) W247R probably benign Het
Lpgat1 A G 1: 191,508,494 (GRCm39) Q344R possibly damaging Het
Luzp1 T C 4: 136,267,993 (GRCm39) V72A probably damaging Het
Malrd1 G A 2: 15,531,464 (GRCm39) V8M probably benign Het
Msmo1 T C 8: 65,172,144 (GRCm39) H253R probably damaging Het
Nom1 A G 5: 29,640,124 (GRCm39) K150R possibly damaging Het
Onecut1 A G 9: 74,770,042 (GRCm39) E155G probably benign Het
Or12k7 A G 2: 36,959,001 (GRCm39) H228R probably benign Het
Or14c46 T A 7: 85,918,728 (GRCm39) M90L probably benign Het
Or5p59 T C 7: 107,703,005 (GRCm39) V163A possibly damaging Het
Osbpl10 G A 9: 114,890,944 (GRCm39) V111M probably damaging Het
Pcdhgb6 T C 18: 37,877,457 (GRCm39) S722P probably benign Het
Plin4 T A 17: 56,414,064 (GRCm39) D187V probably damaging Het
Pmf1 T C 3: 88,303,294 (GRCm39) E89G possibly damaging Het
Polr1d A T 5: 147,014,408 (GRCm39) probably benign Het
Ppp1r9a T C 6: 5,158,200 (GRCm39) Y1006H probably damaging Het
Ppp2r5c A G 12: 110,537,134 (GRCm39) K420E probably benign Het
Prdx1 T C 4: 116,551,006 (GRCm39) L159P probably damaging Het
Psmd6 G T 14: 14,119,990 (GRCm38) D39E probably benign Het
Rffl T C 11: 82,709,244 (GRCm39) K60E probably damaging Het
Sbf1 T A 15: 89,172,837 (GRCm39) D1892V probably damaging Het
Sbno2 G A 10: 79,902,424 (GRCm39) S475F possibly damaging Het
Serpina3i T A 12: 104,231,474 (GRCm39) V37E probably benign Het
Siglecf G A 7: 43,001,137 (GRCm39) C35Y probably damaging Het
Slc22a27 G T 19: 7,903,767 (GRCm39) D123E probably damaging Het
Smim23 T A 11: 32,770,592 (GRCm39) K105* probably null Het
Soat1 C T 1: 156,265,318 (GRCm39) S348N probably benign Het
Sp2 C T 11: 96,851,811 (GRCm39) probably benign Het
St14 T A 9: 31,002,803 (GRCm39) H700L probably damaging Het
St3gal1 T A 15: 66,985,634 (GRCm39) K7* probably null Het
Tgm1 T C 14: 55,943,011 (GRCm39) K610E probably benign Het
Tob1 T A 11: 94,104,583 (GRCm39) Y40N probably damaging Het
Tob1 T A 11: 94,104,585 (GRCm39) Y40* probably null Het
Trpc4ap A G 2: 155,477,130 (GRCm39) probably benign Het
Ttc9 C T 12: 81,678,450 (GRCm39) P91L probably benign Het
Zbtb18 T C 1: 177,275,446 (GRCm39) S269P probably damaging Het
Zfp703 C T 8: 27,469,233 (GRCm39) P299L probably damaging Het
Zfyve16 A T 13: 92,650,410 (GRCm39) V858E probably 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
R4256:Rspo2 UTSW 15 42,939,307 (GRCm39) missense probably benign 0.43
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
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'- TCTCCAATGTTAGTATCAGGTTTCC -3'
(R):5'- ATGAGTGCAGATCGTACAGG -3'

Sequencing Primer
(F):5'- TCAGGTTTCCATCATGAATAAATAGC -3'
(R):5'- GTGCAGATCGTACAGGTTACATAAC -3'
Posted On 2016-12-20