Incidental Mutation 'R6275:Folr1'
ID 507578
Institutional Source Beutler Lab
Gene Symbol Folr1
Ensembl Gene ENSMUSG00000001827
Gene Name folate receptor alpha
Synonyms folate receptor [a], Folbp1, FBP1, folate-binding protein 1, Folbp-1
MMRRC Submission 044445-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6275 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 101507551-101519974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 101508742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 61 (N61I)
Ref Sequence ENSEMBL: ENSMUSP00000118547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106981] [ENSMUST00000106982] [ENSMUST00000106983] [ENSMUST00000106985] [ENSMUST00000106986] [ENSMUST00000123321] [ENSMUST00000126204] [ENSMUST00000134145] [ENSMUST00000140068] [ENSMUST00000151706] [ENSMUST00000123630] [ENSMUST00000209334] [ENSMUST00000210598] [ENSMUST00000150184] [ENSMUST00000124026] [ENSMUST00000140584] [ENSMUST00000155311]
AlphaFold P35846
Predicted Effect probably damaging
Transcript: ENSMUST00000106981
AA Change: N61I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102594
Gene: ENSMUSG00000001827
AA Change: N61I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 209 2.4e-61 PFAM
low complexity region 242 251 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106982
AA Change: N61I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102595
Gene: ENSMUSG00000001827
AA Change: N61I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 209 2.4e-61 PFAM
low complexity region 242 251 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106983
AA Change: N61I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102596
Gene: ENSMUSG00000001827
AA Change: N61I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 209 4.2e-68 PFAM
low complexity region 242 251 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106985
AA Change: N61I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102598
Gene: ENSMUSG00000001827
AA Change: N61I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 209 2.4e-61 PFAM
low complexity region 242 251 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106986
AA Change: N61I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102599
Gene: ENSMUSG00000001827
AA Change: N61I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 209 2.4e-61 PFAM
low complexity region 242 251 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123321
SMART Domains Protein: ENSMUSP00000114167
Gene: ENSMUSG00000001827

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PDB:4LRH|H 21 54 6e-13 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000126204
AA Change: N61I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117175
Gene: ENSMUSG00000001827
AA Change: N61I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 137 2.9e-38 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000134145
AA Change: N61I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118547
Gene: ENSMUSG00000001827
AA Change: N61I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 104 2.6e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000140068
AA Change: N61I

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000114633
Gene: ENSMUSG00000001827
AA Change: N61I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 160 9.5e-47 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000151706
AA Change: N61I

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115077
Gene: ENSMUSG00000001827
AA Change: N61I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 157 8.9e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123630
SMART Domains Protein: ENSMUSP00000121947
Gene: ENSMUSG00000001827

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PDB:4LRH|H 21 54 4e-13 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000209334
Predicted Effect probably benign
Transcript: ENSMUST00000210598
Predicted Effect probably benign
Transcript: ENSMUST00000150184
Predicted Effect probably benign
Transcript: ENSMUST00000124026
Predicted Effect probably benign
Transcript: ENSMUST00000140584
Predicted Effect probably benign
Transcript: ENSMUST00000155311
SMART Domains Protein: ENSMUSP00000115360
Gene: ENSMUSG00000001827

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PDB:4LRH|H 21 53 3e-12 PDB
Meta Mutation Damage Score 0.7379 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Embryos homozygous for a knock-out allele are growth retarded and malformed, show multiple developmental anomalies, including neural and craniofacial defects, and die by E10. Folate supplementation of pregnant dams reduces embryonic mortality and improves many of the adverse developmental effects. [provided by MGI curators]
Allele List at MGI

All alleles(359) : Targeted(3) Gene trapped(356)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T A 10: 79,833,625 (GRCm39) L30H probably damaging Het
Abcb6 T C 1: 75,149,195 (GRCm39) probably null Het
Acsbg1 T A 9: 54,517,056 (GRCm39) M586L probably benign Het
Ano6 A T 15: 95,811,314 (GRCm39) Y159F probably damaging Het
C1ql1 A G 11: 102,830,575 (GRCm39) I254T probably damaging Het
Ccdc81 T C 7: 89,531,519 (GRCm39) D318G possibly damaging Het
Ccr7 C T 11: 99,036,489 (GRCm39) M144I probably damaging Het
Cdca3 C T 6: 124,809,627 (GRCm39) probably null Het
Ces1h A T 8: 94,099,274 (GRCm39) L93I probably benign Het
Cntfr T C 4: 41,663,216 (GRCm39) D197G possibly damaging Het
Cyp2d12 C A 15: 82,440,859 (GRCm39) P126T probably benign Het
Dnah10 A G 5: 124,862,248 (GRCm39) T2225A probably damaging Het
Edrf1 A T 7: 133,269,311 (GRCm39) N1147Y possibly damaging Het
Eif1ad15 T C 12: 88,287,995 (GRCm39) D86G possibly damaging Het
Eif1ad16 T C 12: 87,985,255 (GRCm39) N96S probably benign Het
Ermap C T 4: 119,035,747 (GRCm39) V414M probably damaging Het
Fam13a A G 6: 58,931,242 (GRCm39) I446T probably damaging Het
Fgfbp3 T C 19: 36,896,153 (GRCm39) H155R possibly damaging Het
Fsip1 T C 2: 118,035,583 (GRCm39) I431V probably benign Het
Gm5493 A T 17: 22,969,043 (GRCm39) E74D probably benign Het
H2-Oa A G 17: 34,313,540 (GRCm39) D197G probably benign Het
Hps1 T C 19: 42,758,046 (GRCm39) E169G probably null Het
Il17rc A T 6: 113,457,308 (GRCm39) M372L probably benign Het
Itga10 A G 3: 96,565,501 (GRCm39) S1042G probably benign Het
Jchain A T 5: 88,669,212 (GRCm39) V147E probably damaging Het
Laptm4b A G 15: 34,283,473 (GRCm39) T211A probably benign Het
Mal2 T C 15: 54,435,035 (GRCm39) probably null Het
Mov10l1 T A 15: 88,910,823 (GRCm39) I1071N probably damaging Het
Mpp2 T A 11: 101,951,795 (GRCm39) Y401F probably damaging Het
Myh15 A G 16: 48,965,610 (GRCm39) T1172A probably benign Het
Or51q1 T A 7: 103,629,181 (GRCm39) S261T probably damaging Het
Pcnx1 G T 12: 81,965,381 (GRCm39) S516I probably benign Het
Pidd1 C T 7: 141,019,708 (GRCm39) A685T probably damaging Het
Psg28 A C 7: 18,164,365 (GRCm39) Y116D probably damaging Het
Psmd11 T C 11: 80,329,458 (GRCm39) probably benign Het
Rapgefl1 T A 11: 98,741,946 (GRCm39) Y637N probably damaging Het
Rbm25 T A 12: 83,691,206 (GRCm39) M66K probably damaging Het
Rnf38 T A 4: 44,152,408 (GRCm39) H52L probably benign Het
Rsf1 CGGCGGCGG CGGCGGCGGTGGCGGCGG 7: 97,229,130 (GRCm39) probably benign Het
Sec62 A G 3: 30,863,985 (GRCm39) Q89R probably damaging Het
Serpina6 T A 12: 103,614,979 (GRCm39) Q289L probably benign Het
Sf3b2 A C 19: 5,333,678 (GRCm39) I640S probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc26a11 T C 11: 119,250,125 (GRCm39) F127L probably benign Het
Spata31h1 T C 10: 82,121,202 (GRCm39) D3936G probably damaging Het
Stac3 T A 10: 127,343,615 (GRCm39) Y252* probably null Het
Stoml3 G A 3: 53,414,927 (GRCm39) A240T probably damaging Het
Tanc1 A T 2: 59,673,854 (GRCm39) H1653L probably benign Het
Tll1 A T 8: 64,504,401 (GRCm39) L665* probably null Het
Tnr A C 1: 159,688,840 (GRCm39) Q434P probably damaging Het
Tpgs1 C A 10: 79,511,354 (GRCm39) D165E probably benign Het
Tsc2 A G 17: 24,819,394 (GRCm39) V1185A probably benign Het
Tulp4 A G 17: 6,249,011 (GRCm39) H203R probably damaging Het
Txnl4a T A 18: 80,261,980 (GRCm39) M72K possibly damaging Het
Usp42 G A 5: 143,700,727 (GRCm39) R1099W probably damaging Het
Zfp292 G A 4: 34,808,883 (GRCm39) A1387V possibly damaging Het
Zfp994 A T 17: 22,418,972 (GRCm39) L659* probably null Het
Other mutations in Folr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Folr1 APN 7 101,507,947 (GRCm39) missense probably benign 0.00
IGL02423:Folr1 APN 7 101,507,732 (GRCm39) missense probably benign 0.00
R0071:Folr1 UTSW 7 101,513,130 (GRCm39) critical splice donor site probably null
R0071:Folr1 UTSW 7 101,513,130 (GRCm39) critical splice donor site probably null
R1022:Folr1 UTSW 7 101,507,810 (GRCm39) missense probably damaging 0.98
R1024:Folr1 UTSW 7 101,507,810 (GRCm39) missense probably damaging 0.98
R1562:Folr1 UTSW 7 101,507,801 (GRCm39) missense probably damaging 0.98
R2299:Folr1 UTSW 7 101,513,199 (GRCm39) missense probably damaging 1.00
R3690:Folr1 UTSW 7 101,507,745 (GRCm39) missense probably benign 0.06
R4746:Folr1 UTSW 7 101,513,184 (GRCm39) missense probably damaging 1.00
R4747:Folr1 UTSW 7 101,513,184 (GRCm39) missense probably damaging 1.00
R5319:Folr1 UTSW 7 101,513,184 (GRCm39) missense probably damaging 1.00
R6243:Folr1 UTSW 7 101,513,172 (GRCm39) missense probably damaging 1.00
R7284:Folr1 UTSW 7 101,508,677 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TGCTGGATCCAGGGTCCC -3'
(R):5'- ACTCTATGAGGCTGCTCAGAAA -3'

Sequencing Primer
(F):5'- CCAAGTTCGGGGAACACTCATAG -3'
(R):5'- GAATTACAGACAGTTGTGAGCCTCC -3'
Posted On 2018-03-15