Incidental Mutation 'IGL00966:Folr2'
ID27898
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Folr2
Ensembl Gene ENSMUSG00000032725
Gene Namefolate receptor 2 (fetal)
SynonymsFBP2, Folbp-2, FR-P3, Folbp2, Folbp2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00966
Quality Score
Status
Chromosome7
Chromosomal Location101839988-101857194 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101840386 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 182 (E182G)
Ref Sequence ENSEMBL: ENSMUSP00000147920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035836] [ENSMUST00000094141] [ENSMUST00000165052] [ENSMUST00000185929] [ENSMUST00000209329] [ENSMUST00000210598] [ENSMUST00000211566]
Predicted Effect probably benign
Transcript: ENSMUST00000035836
SMART Domains Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737

DomainStartEndE-ValueType
SH2 19 108 1.21e-26 SMART
low complexity region 116 137 N/A INTRINSIC
low complexity region 156 175 N/A INTRINSIC
Blast:IPPc 250 349 5e-14 BLAST
IPPc 423 736 3.98e-137 SMART
low complexity region 934 957 N/A INTRINSIC
low complexity region 997 1013 N/A INTRINSIC
low complexity region 1036 1047 N/A INTRINSIC
low complexity region 1049 1068 N/A INTRINSIC
low complexity region 1089 1102 N/A INTRINSIC
SAM 1192 1257 2.47e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000094141
AA Change: E182G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091692
Gene: ENSMUSG00000032725
AA Change: E182G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Folate_rec 29 203 2.5e-64 PFAM
low complexity region 233 250 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098239
Predicted Effect probably benign
Transcript: ENSMUST00000165052
SMART Domains Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737

DomainStartEndE-ValueType
SH2 19 108 1.21e-26 SMART
low complexity region 116 137 N/A INTRINSIC
low complexity region 156 175 N/A INTRINSIC
Blast:IPPc 250 349 5e-14 BLAST
IPPc 423 736 3.98e-137 SMART
low complexity region 934 957 N/A INTRINSIC
low complexity region 997 1013 N/A INTRINSIC
low complexity region 1036 1047 N/A INTRINSIC
low complexity region 1049 1068 N/A INTRINSIC
low complexity region 1089 1102 N/A INTRINSIC
SAM 1192 1257 2.47e-8 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185929
SMART Domains Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737

DomainStartEndE-ValueType
SH2 19 108 7.6e-29 SMART
low complexity region 116 137 N/A INTRINSIC
low complexity region 156 175 N/A INTRINSIC
Blast:IPPc 250 349 4e-14 BLAST
IPPc 423 736 1.9e-139 SMART
low complexity region 934 957 N/A INTRINSIC
low complexity region 997 1013 N/A INTRINSIC
low complexity region 1036 1047 N/A INTRINSIC
low complexity region 1049 1068 N/A INTRINSIC
low complexity region 1089 1102 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209329
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209481
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209861
Predicted Effect probably damaging
Transcript: ENSMUST00000210598
AA Change: E182G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211428
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211514
Predicted Effect probably benign
Transcript: ENSMUST00000211566
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211793
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a receptor protein located on the plasma membrane that mediates folate uptake by cells. Mice lacking the product of this gene show no defects in embryonic development and grow normally into fertile adults. However, such mice were found to be highly susceptible to the teratogenic effects of arsenic. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and physically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932431P20Rik C A 7: 29,537,463 noncoding transcript Het
5430419D17Rik T A 7: 131,243,107 Y692* probably null Het
Acad11 A G 9: 104,126,656 E649G probably damaging Het
Adgre1 C A 17: 57,419,335 T402K probably benign Het
Agap3 A G 5: 24,501,002 probably benign Het
Amy1 T C 3: 113,556,040 I494V probably benign Het
Arhgef40 G A 14: 51,991,698 probably null Het
Atp2c2 T C 8: 119,745,590 V461A probably benign Het
Bub1 A G 2: 127,810,663 S595P probably damaging Het
Cmya5 C T 13: 93,097,906 V225I probably benign Het
Cnbd1 T C 4: 18,906,988 probably benign Het
Cux1 A T 5: 136,311,491 probably benign Het
Dsg3 T A 18: 20,523,607 I178N probably benign Het
Dus2 T A 8: 106,025,901 probably null Het
Enpp1 G A 10: 24,654,031 H570Y probably damaging Het
Ephb3 A C 16: 21,217,294 T57P probably benign Het
Fat3 C A 9: 15,999,094 V1871F possibly damaging Het
Fbll1 T C 11: 35,798,047 T130A probably benign Het
Fbxl20 C T 11: 98,110,974 S99N probably damaging Het
Fras1 A G 5: 96,555,221 D281G probably benign Het
Gm17175 G T 14: 51,573,069 Q34K possibly damaging Het
Gm5592 T A 7: 41,289,095 D600E probably damaging Het
Gtf2e1 T C 16: 37,515,730 E294G probably benign Het
Gtf3c2 A G 5: 31,170,173 probably benign Het
Heg1 T C 16: 33,710,607 L151P probably damaging Het
Hmcn2 T G 2: 31,428,994 V3902G probably damaging Het
Ift140 A G 17: 25,018,802 Y4C probably damaging Het
Ighv1-19 A C 12: 114,708,949 V17G possibly damaging Het
Iqca T A 1: 90,045,657 I770F probably benign Het
Jak3 T A 8: 71,679,012 C115S probably benign Het
Kif18b A T 11: 102,914,675 M252K probably damaging Het
Klhdc7a A T 4: 139,966,925 V237D probably benign Het
Klhl11 C T 11: 100,463,205 V597I possibly damaging Het
Krt72 T A 15: 101,780,961 Y312F probably damaging Het
Lonp2 T A 8: 86,633,972 I191N probably damaging Het
Npc2 A T 12: 84,772,845 I8N possibly damaging Het
Nr4a1 T C 15: 101,272,788 L413P probably damaging Het
Nup133 T C 8: 123,911,906 N895S probably damaging Het
Olfr869 T C 9: 20,137,235 F40L probably benign Het
Ppef1 A G X: 160,685,294 I94T probably benign Het
Prrt4 G A 6: 29,176,456 T290I probably benign Het
Ptpru A T 4: 131,772,616 V1239E probably damaging Het
Rab8b T G 9: 66,852,992 M117L probably benign Het
S1pr5 T A 9: 21,244,216 I305F possibly damaging Het
Sdr39u1 A G 14: 55,898,006 V160A probably damaging Het
Slc6a21 C T 7: 45,288,244 T653M probably benign Het
Stk39 T A 2: 68,211,958 E544D probably benign Het
Tgfbr3 T C 5: 107,142,501 T313A probably benign Het
Tle6 A T 10: 81,594,458 L287M probably damaging Het
Tmc2 A G 2: 130,264,012 H821R probably benign Het
Tmem230 G T 2: 132,245,977 D26E probably benign Het
Tnfaip3 A G 10: 19,005,137 F394S probably damaging Het
Ttn T A 2: 76,811,377 L13458F probably damaging Het
Vwa5a A T 9: 38,723,379 N161I probably benign Het
Other mutations in Folr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Frontier UTSW 7 101840674 missense probably damaging 0.97
R4214:Folr2 UTSW 7 101843699 missense probably damaging 0.96
R4410:Folr2 UTSW 7 101840674 missense probably damaging 0.97
R4755:Folr2 UTSW 7 101843799 missense possibly damaging 0.86
R4944:Folr2 UTSW 7 101840290 unclassified probably null
R5421:Folr2 UTSW 7 101840644 missense probably benign 0.04
Posted On2013-04-17