Incidental Mutation 'R5687:Sfrp2'
ID 443407
Institutional Source Beutler Lab
Gene Symbol Sfrp2
Ensembl Gene ENSMUSG00000027996
Gene Name secreted frizzled-related protein 2
Synonyms Sdf5
MMRRC Submission 043320-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5687 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 83673628-83681621 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 83674146 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 100 (A100T)
Ref Sequence ENSEMBL: ENSMUSP00000029625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029625]
AlphaFold P97299
Predicted Effect probably damaging
Transcript: ENSMUST00000029625
AA Change: A100T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029625
Gene: ENSMUSG00000027996
AA Change: A100T

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
Meta Mutation Damage Score 0.4914 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (72/73)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 T A 15: 94,223,852 (GRCm39) D1292V probably benign Het
Adcy2 A T 13: 68,768,938 (GRCm39) C1063* probably null Het
Adcy2 A T 13: 68,790,688 (GRCm39) V892D probably damaging Het
Agtpbp1 T C 13: 59,648,329 (GRCm39) D497G probably benign Het
Anks1b A C 10: 90,750,573 (GRCm39) I195L probably benign Het
Asmt G T X: 169,111,749 (GRCm39) S377I unknown Het
C1s1 T A 6: 124,517,909 (GRCm39) T24S probably benign Het
Ccdc85a A T 11: 28,342,854 (GRCm39) probably benign Het
Ccndbp1 T C 2: 120,845,183 (GRCm39) probably benign Het
Cct8 T C 16: 87,285,709 (GRCm39) I250V probably benign Het
Cmya5 T C 13: 93,234,684 (GRCm39) T135A possibly damaging Het
Col11a1 T C 3: 114,010,752 (GRCm39) probably benign Het
Crybg3 A G 16: 59,379,529 (GRCm39) M575T probably benign Het
Dmp1 C T 5: 104,354,952 (GRCm39) probably benign Het
Emc1 G T 4: 139,102,691 (GRCm39) R950L probably damaging Het
Enpep T C 3: 129,092,743 (GRCm39) probably null Het
Eya1 G A 1: 14,253,476 (GRCm39) T500I probably damaging Het
Fam169a T C 13: 97,230,126 (GRCm39) F54L probably damaging Het
Fbxo8 A G 8: 57,044,552 (GRCm39) K285R probably damaging Het
Galnt1 A T 18: 24,405,807 (GRCm39) E416D probably benign Het
Gcc1 T A 6: 28,419,232 (GRCm39) probably null Het
Gm10800 T A 2: 98,496,965 (GRCm39) Y196F probably benign Het
Gmpr T A 13: 45,692,496 (GRCm39) probably null Het
Jrkl C T 9: 13,244,387 (GRCm39) E425K probably benign Het
Kl T G 5: 150,911,931 (GRCm39) I560S possibly damaging Het
Kyat3 C A 3: 142,440,343 (GRCm39) R356S probably null Het
Lrig2 C T 3: 104,371,388 (GRCm39) probably null Het
Lrrc47 A G 4: 154,100,140 (GRCm39) T239A probably benign Het
Map4k2 T C 19: 6,395,672 (GRCm39) probably benign Het
Mon2 A G 10: 122,844,144 (GRCm39) S1469P probably damaging Het
Mthfd1l G A 10: 3,940,002 (GRCm39) probably null Het
Mvk G T 5: 114,588,826 (GRCm39) G144V probably damaging Het
Nasp T A 4: 116,463,002 (GRCm39) probably benign Het
Ndst4 A C 3: 125,232,258 (GRCm39) N276H possibly damaging Het
Nsmf C T 2: 24,946,079 (GRCm39) P189S probably damaging Het
Nt5m T G 11: 59,743,649 (GRCm39) D92E probably benign Het
Or10g6 T G 9: 39,933,731 (GRCm39) L14R probably damaging Het
Or4k39 T C 2: 111,239,033 (GRCm39) noncoding transcript Het
Or4p23 A T 2: 88,577,094 (GRCm39) I46N probably damaging Het
Pan3 T A 5: 147,391,982 (GRCm39) I119N probably damaging Het
Pard6b A T 2: 167,940,546 (GRCm39) S178C probably damaging Het
Parl A G 16: 20,106,728 (GRCm39) probably benign Het
Pdk2 A G 11: 94,919,851 (GRCm39) probably benign Het
Prag1 A G 8: 36,613,967 (GRCm39) E1173G probably benign Het
Prph2 T A 17: 47,234,391 (GRCm39) L320Q probably damaging Het
Psmd3 T C 11: 98,584,495 (GRCm39) I200T probably damaging Het
Rhbdd3 T A 11: 5,055,707 (GRCm39) S324T probably damaging Het
Rps6-ps2 A T 8: 89,533,112 (GRCm39) noncoding transcript Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Samd4 A G 14: 47,254,022 (GRCm39) N61S probably benign Het
Sh3bp5 C A 14: 31,099,452 (GRCm39) R265L probably benign Het
Slc6a13 A G 6: 121,279,700 (GRCm39) T25A probably benign Het
Sntg1 C A 1: 8,533,667 (GRCm39) R329L possibly damaging Het
Sorbs2 T C 8: 46,228,669 (GRCm39) F285L probably damaging Het
Speg T C 1: 75,395,773 (GRCm39) probably null Het
Srgap1 T C 10: 121,661,541 (GRCm39) Y533C probably damaging Het
Supt5 C A 7: 28,017,188 (GRCm39) S668I probably benign Het
Taf6l T G 19: 8,750,676 (GRCm39) I133L probably benign Het
Thrap3 G A 4: 126,074,279 (GRCm39) probably benign Het
Tmem115 A G 9: 107,412,054 (GRCm39) N126S probably benign Het
Trgc1 A T 13: 19,400,729 (GRCm39) I153F unknown Het
Tspoap1 T A 11: 87,667,952 (GRCm39) I1192N probably damaging Het
Vcan T C 13: 89,826,253 (GRCm39) I3184V probably damaging Het
Yeats4 G A 10: 117,051,585 (GRCm39) T224M probably benign Het
Zc3h13 A T 14: 75,569,400 (GRCm39) R1416* probably null Het
Zmynd12 T A 4: 119,299,098 (GRCm39) Y193N probably 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
R5312:Sfrp2 UTSW 3 83,676,708 (GRCm39) missense probably damaging 0.99
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'- ACTTCTCCTACAAGCGCAG -3'
(R):5'- CTAGCACCTCAGGCTTCTTG -3'

Sequencing Primer
(F):5'- CTGCAAGCCCATCCCCG -3'
(R):5'- CACCTCAGGCTTCTTGGGAGTG -3'
Posted On 2016-11-09