Incidental Mutation 'R4214:Folr2'
ID 319346
Institutional Source Beutler Lab
Gene Symbol Folr2
Ensembl Gene ENSMUSG00000032725
Gene Name folate receptor beta
Synonyms Folbp2, Folbp-2, FR-P3, Folbp2, FBP2
MMRRC Submission 041041-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4214 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 101489195-101506397 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101492906 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Threonine at position 39 (K39T)
Ref Sequence ENSEMBL: ENSMUSP00000147283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094141] [ENSMUST00000209329] [ENSMUST00000210598] [ENSMUST00000211566]
AlphaFold Q05685
Predicted Effect possibly damaging
Transcript: ENSMUST00000094141
AA Change: K39T

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000091692
Gene: ENSMUSG00000032725
AA Change: K39T

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 probably benign
Transcript: ENSMUST00000209329
AA Change: K39T

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000210598
AA Change: K39T

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211428
Predicted Effect probably damaging
Transcript: ENSMUST00000211566
AA Change: K39T

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211604
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211793
Meta Mutation Damage Score 0.1583 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.5%
Validation Efficiency 98% (64/65)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik C T 1: 192,515,845 (GRCm39) noncoding transcript Het
Abca12 T A 1: 71,327,856 (GRCm39) D1408V probably damaging Het
Abca13 A T 11: 9,243,877 (GRCm39) L1913F probably damaging Het
Acad9 A G 3: 36,127,752 (GRCm39) E118G probably damaging Het
Adamts5 G A 16: 85,665,531 (GRCm39) A590V probably damaging Het
Ano6 A C 15: 95,863,790 (GRCm39) Y791S probably benign Het
Aox1 T C 1: 58,346,603 (GRCm39) probably null Het
Aox4 T A 1: 58,261,051 (GRCm39) I128N probably damaging Het
Atp2b3 A G X: 72,613,921 (GRCm39) M1142V probably benign Het
AU041133 A G 10: 81,987,223 (GRCm39) H292R probably damaging Het
Bco2 A G 9: 50,456,666 (GRCm39) M158T probably benign Het
Bpnt1 T A 1: 185,077,626 (GRCm39) probably benign Het
Cadm1 A G 9: 47,708,741 (GRCm39) D157G probably damaging Het
Catsperg1 T C 7: 28,895,357 (GRCm39) R499G possibly damaging Het
Ccr7 T C 11: 99,035,872 (GRCm39) E350G probably damaging Het
Ceacam5 T A 7: 17,486,076 (GRCm39) S524R probably benign Het
Cep78 T C 19: 15,936,943 (GRCm39) T588A probably benign Het
Cfap65 T A 1: 74,966,840 (GRCm39) E282D possibly damaging Het
Drd2 A G 9: 49,316,221 (GRCm39) K327R probably benign Het
Erich5 C T 15: 34,471,557 (GRCm39) P262L possibly damaging Het
Ezh2 A C 6: 47,510,748 (GRCm39) D578E probably damaging Het
Fez1 A G 9: 36,781,784 (GRCm39) N20S probably damaging Het
Gm10549 G T 18: 33,597,530 (GRCm39) probably null Het
Gm14393 C T 2: 174,903,640 (GRCm39) C89Y probably benign Het
Gm5329 T G 7: 31,671,828 (GRCm39) noncoding transcript Het
Gm7367 A G 7: 59,805,517 (GRCm39) noncoding transcript Het
Gpr162 A T 6: 124,837,031 (GRCm39) W338R probably damaging Het
Ift80 A T 3: 68,898,141 (GRCm39) F65I possibly damaging Het
Klra6 T G 6: 129,995,885 (GRCm39) I158L probably benign Het
Lpp T A 16: 24,580,804 (GRCm39) Y173* probably null Het
Lrp12 A G 15: 39,735,976 (GRCm39) V671A probably benign Het
Lrrc27 C T 7: 138,803,609 (GRCm39) R178C probably damaging Het
Lrrc49 G A 9: 60,573,609 (GRCm39) T225M probably benign Het
Megf8 T A 7: 25,054,793 (GRCm39) S1915T probably benign Het
Mmadhc T C 2: 50,181,344 (GRCm39) T109A probably benign Het
Mon2 T C 10: 122,852,397 (GRCm39) E992G probably benign Het
Msl3 A G X: 167,450,059 (GRCm39) I267T probably damaging Het
Msl3 A T X: 167,445,430 (GRCm39) N430K probably damaging Het
Nab2 G T 10: 127,500,917 (GRCm39) Y25* probably null Het
Notch3 T C 17: 32,351,181 (GRCm39) E1938G possibly damaging Het
Or5ae2 C T 7: 84,506,497 (GRCm39) H307Y probably benign Het
Osgepl1 A G 1: 53,354,167 (GRCm39) T44A probably damaging Het
Pdpr A G 8: 111,856,212 (GRCm39) probably benign Het
Pfkp A G 13: 6,669,261 (GRCm39) S241P probably damaging Het
Phgdh A T 3: 98,235,377 (GRCm39) S166T possibly damaging Het
Plcl1 C T 1: 55,790,494 (GRCm39) Q1055* probably null Het
Plscr2 A G 9: 92,169,790 (GRCm39) N80S probably benign Het
Polr3k A T 2: 181,510,035 (GRCm39) M80L probably benign Het
Prex2 A G 1: 11,171,383 (GRCm39) D304G probably damaging Het
Prex2 A G 1: 11,355,285 (GRCm39) T1529A probably damaging Het
Rcvrn A T 11: 67,586,514 (GRCm39) H91L possibly damaging Het
Rin2 C T 2: 145,702,366 (GRCm39) T354I probably benign Het
Tbx18 T C 9: 87,606,518 (GRCm39) Y209C probably damaging Het
Themis3 T C 17: 66,867,012 (GRCm39) N76S probably benign Het
Trhde A T 10: 114,623,975 (GRCm39) S310T possibly damaging Het
Vmn1r213 G A 13: 23,196,173 (GRCm39) C252Y possibly damaging Het
Zfp523 T C 17: 28,420,003 (GRCm39) V216A probably benign Het
Other mutations in Folr2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Folr2 APN 7 101,489,593 (GRCm39) missense probably damaging 0.98
Frontier UTSW 7 101,489,881 (GRCm39) missense probably damaging 0.97
R4410:Folr2 UTSW 7 101,489,881 (GRCm39) missense probably damaging 0.97
R4755:Folr2 UTSW 7 101,493,006 (GRCm39) missense possibly damaging 0.86
R4944:Folr2 UTSW 7 101,489,497 (GRCm39) splice site probably null
R5421:Folr2 UTSW 7 101,489,851 (GRCm39) missense probably benign 0.04
R7810:Folr2 UTSW 7 101,490,102 (GRCm39) missense possibly damaging 0.89
R8888:Folr2 UTSW 7 101,489,408 (GRCm39) missense unknown
R8895:Folr2 UTSW 7 101,489,408 (GRCm39) missense unknown
R9713:Folr2 UTSW 7 101,489,809 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AACTGCTTCATTGCCACCAC -3'
(R):5'- GGGAATAAATGAAGTCCCTCCCC -3'

Sequencing Primer
(F):5'- ACTGTGTCCTCTTCTGGGGAC -3'
(R):5'- CCCTCTGGTCTAGGTCTCCCTAAC -3'
Posted On 2015-06-10