Incidental Mutation 'R5312:Sfrp2'
ID 405630
Institutional Source Beutler Lab
Gene Symbol Sfrp2
Ensembl Gene ENSMUSG00000027996
Gene Name secreted frizzled-related protein 2
Synonyms Sdf5
MMRRC Submission 042895-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5312 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 83673628-83681621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 83676708 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 193 (D193G)
Ref Sequence ENSEMBL: ENSMUSP00000029625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029625]
AlphaFold P97299
Predicted Effect probably damaging
Transcript: ENSMUST00000029625
AA Change: D193G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029625
Gene: ENSMUSG00000027996
AA Change: D193G

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
FRI 39 157 5.09e-67 SMART
C345C 186 289 1.57e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140261
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180472
Meta Mutation Damage Score 0.8573 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 100% (60/60)
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 SFRP family that contains a cysteine-rich domain homologous to the putative Wnt-binding site of Frizzled proteins. SFRPs act as soluble modulators of Wnt signaling. Methylation of this gene is a potential marker for the presence of colorectal cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit background-sensitive syndactyly. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,944,592 (GRCm39) V409A probably damaging Het
Abtb1 A G 6: 88,815,240 (GRCm39) F297L probably damaging Het
Adam22 C A 5: 8,140,182 (GRCm39) G202W probably damaging Het
Adgrg3 G A 8: 95,766,492 (GRCm39) V388I probably benign Het
Adnp T C 2: 168,026,108 (GRCm39) T396A probably benign Het
Ank2 T C 3: 126,753,417 (GRCm39) Q288R probably damaging Het
Bdp1 T C 13: 100,234,109 (GRCm39) probably null Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Ceacam23 T G 7: 17,643,067 (GRCm39) H492Q probably damaging Het
Cfap210 T C 2: 69,617,602 (GRCm39) T60A possibly damaging Het
Cntnap5c A T 17: 58,666,249 (GRCm39) E1093V probably benign Het
Cplx3 A T 9: 57,518,360 (GRCm39) L343Q probably damaging Het
Dmrta1 A C 4: 89,580,284 (GRCm39) N415H probably damaging Het
Dnaaf5 T A 5: 139,138,617 (GRCm39) V266E probably damaging Het
Dot1l A G 10: 80,620,471 (GRCm39) Q511R possibly damaging Het
Ehmt1 A G 2: 24,774,207 (GRCm39) V201A probably damaging Het
Fancg A G 4: 43,003,019 (GRCm39) F613L probably benign Het
Fbxo10 A T 4: 45,042,036 (GRCm39) I731N possibly damaging Het
Fchsd1 C T 18: 38,092,926 (GRCm39) probably benign Het
Ighv1-74 A G 12: 115,766,501 (GRCm39) S39P probably damaging Het
Kbtbd11 A G 8: 15,078,589 (GRCm39) D396G possibly damaging Het
Klc1 A G 12: 111,762,055 (GRCm39) K575R possibly damaging Het
Mki67 A T 7: 135,302,559 (GRCm39) V825E probably damaging Het
Mus81 T C 19: 5,533,522 (GRCm39) K489R possibly damaging Het
Myog A G 1: 134,218,064 (GRCm39) K91E probably damaging Het
Nfil3 A T 13: 53,121,656 (GRCm39) V416E probably damaging Het
Nup160 G T 2: 90,563,176 (GRCm39) E1314* probably null Het
Nwd2 C T 5: 63,963,415 (GRCm39) Q1000* probably null Het
Or4g17 T C 2: 111,210,179 (GRCm39) V278A possibly damaging Het
Or4k35 T G 2: 111,100,655 (GRCm39) D19A probably benign Het
Or6c66b A C 10: 129,377,134 (GRCm39) M243L probably benign Het
Or6c75 T A 10: 129,337,383 (GRCm39) V210E probably damaging Het
Ppp4r4 T A 12: 103,573,147 (GRCm39) probably null Het
Pramel16 A T 4: 143,675,665 (GRCm39) I387N possibly damaging Het
Psg27 C A 7: 18,290,958 (GRCm39) R415L probably benign Het
Ptprr T A 10: 116,024,324 (GRCm39) S212T probably benign Het
Ramp3 T C 11: 6,624,888 (GRCm39) F61L probably damaging Het
Rap1gds1 A G 3: 138,664,389 (GRCm39) L322P probably damaging Het
Rnf5 A G 17: 34,820,562 (GRCm39) F175S probably benign Het
Sema4a G A 3: 88,344,343 (GRCm39) S636F probably damaging Het
Slc26a5 T C 5: 22,052,258 (GRCm39) S24G probably damaging Het
Slco1a8 A T 6: 141,918,058 (GRCm39) F606Y probably benign Het
Spg21 A G 9: 65,376,084 (GRCm39) I31V probably benign Het
Tmem45a2 T C 16: 56,859,370 (GRCm39) D287G possibly damaging Het
Utrn A T 10: 12,603,513 (GRCm39) D627E probably damaging Het
Vmn2r103 A T 17: 20,013,296 (GRCm39) N139I probably benign Het
Vps35l T C 7: 118,412,799 (GRCm39) I629T probably damaging Het
Washc5 A T 15: 59,217,377 (GRCm39) probably null Het
Zfp667 T C 7: 6,308,466 (GRCm39) I378T probably benign Het
Zfp949 A C 9: 88,449,236 (GRCm39) T14P possibly damaging Het
Other mutations in Sfrp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02281:Sfrp2 APN 3 83,680,446 (GRCm39) missense possibly damaging 0.93
R1820:Sfrp2 UTSW 3 83,680,461 (GRCm39) missense probably benign 0.35
R3153:Sfrp2 UTSW 3 83,680,577 (GRCm39) missense probably benign 0.01
R3876:Sfrp2 UTSW 3 83,674,335 (GRCm39) missense possibly damaging 0.55
R5309:Sfrp2 UTSW 3 83,676,708 (GRCm39) missense probably damaging 0.99
R5687:Sfrp2 UTSW 3 83,674,146 (GRCm39) missense probably damaging 1.00
R5757:Sfrp2 UTSW 3 83,673,933 (GRCm39) missense possibly damaging 0.90
R6313:Sfrp2 UTSW 3 83,674,291 (GRCm39) missense probably benign 0.01
R7776:Sfrp2 UTSW 3 83,674,086 (GRCm39) missense probably benign 0.01
R8778:Sfrp2 UTSW 3 83,674,093 (GRCm39) missense probably damaging 1.00
R9322:Sfrp2 UTSW 3 83,674,006 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TTCTATGGAGGAGGCTGAAGC -3'
(R):5'- TGCGACAGTTACATATCAAGTGAC -3'

Sequencing Primer
(F):5'- GTCACACAGGACAATGGCTGC -3'
(R):5'- CTTAAGAGCCAGTTAGGTGACTTTAG -3'
Posted On 2016-07-22