Incidental Mutation 'R1562:Folr1'
ID 170677
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 039601-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1562 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 101507551-101519974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 101507801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 213 (D213A)
Ref Sequence ENSEMBL: ENSMUSP00000102599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106981] [ENSMUST00000106982] [ENSMUST00000106983] [ENSMUST00000106985] [ENSMUST00000106986] [ENSMUST00000126204] [ENSMUST00000210598] [ENSMUST00000134145] [ENSMUST00000151706] [ENSMUST00000140068]
AlphaFold P35846
Predicted Effect probably damaging
Transcript: ENSMUST00000106981
AA Change: D213A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102594
Gene: ENSMUSG00000001827
AA Change: D213A

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: D213A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102595
Gene: ENSMUSG00000001827
AA Change: D213A

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: D213A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102596
Gene: ENSMUSG00000001827
AA Change: D213A

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: D213A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102598
Gene: ENSMUSG00000001827
AA Change: D213A

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: D213A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102599
Gene: ENSMUSG00000001827
AA Change: D213A

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: ENSMUST00000126204
SMART Domains Protein: ENSMUSP00000117175
Gene: ENSMUSG00000001827

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 137 2.9e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210598
Predicted Effect probably benign
Transcript: ENSMUST00000134145
SMART Domains Protein: ENSMUSP00000118547
Gene: ENSMUSG00000001827

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 104 2.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151706
SMART Domains Protein: ENSMUSP00000115077
Gene: ENSMUSG00000001827

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 157 8.9e-47 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140068
SMART Domains Protein: ENSMUSP00000114633
Gene: ENSMUSG00000001827

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:Folate_rec 34 160 9.5e-47 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 A G 2: 25,336,331 (GRCm39) I2201V probably benign Het
Adam22 T C 5: 8,145,007 (GRCm39) N817S probably damaging Het
Alox12 C A 11: 70,140,991 (GRCm39) R348L probably damaging Het
Asb17 A T 3: 153,559,143 (GRCm39) T285S probably benign Het
Casp4 T C 9: 5,324,733 (GRCm39) S182P possibly damaging Het
Cenpe T C 3: 134,944,155 (GRCm39) M985T possibly damaging Het
Clcn1 C T 6: 42,277,169 (GRCm39) P420L probably benign Het
Coro2a T C 4: 46,548,917 (GRCm39) I126V probably benign Het
Cubn T C 2: 13,432,778 (GRCm39) Y1181C probably damaging Het
Cyp2d22 A T 15: 82,258,179 (GRCm39) L147Q probably damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Fat2 T C 11: 55,200,800 (GRCm39) N758S probably damaging Het
Fbxo43 T C 15: 36,163,162 (GRCm39) D15G probably damaging Het
Flt3 T C 5: 147,281,323 (GRCm39) E803G probably damaging Het
Fus T C 7: 127,579,094 (GRCm39) V359A probably damaging Het
Gabrb3 C T 7: 57,415,262 (GRCm39) R111* probably null Het
Gm17324 T C 9: 78,355,964 (GRCm39) probably benign Het
Hormad2 A T 11: 4,358,848 (GRCm39) probably null Het
Ifi27l2b T A 12: 103,422,780 (GRCm39) probably null Het
Isg20 G T 7: 78,569,891 (GRCm39) C176F probably benign Het
Katnip C A 7: 125,442,020 (GRCm39) S643Y probably damaging Het
Krt15 C A 11: 100,024,007 (GRCm39) V346L probably benign Het
Liat1 A T 11: 75,894,024 (GRCm39) I134F probably damaging Het
Med13l A G 5: 118,876,584 (GRCm39) K920R probably damaging Het
Mlh3 A T 12: 85,313,694 (GRCm39) F831I probably benign Het
Mtmr9 A G 14: 63,771,786 (GRCm39) S267P probably benign Het
Mybpc1 C T 10: 88,389,193 (GRCm39) A406T probably damaging Het
Myh1 T C 11: 67,102,196 (GRCm39) M829T probably benign Het
Myo10 A G 15: 25,780,497 (GRCm39) Q209R possibly damaging Het
Nceh1 T A 3: 27,293,701 (GRCm39) V153D probably damaging Het
Oog3 A T 4: 143,889,169 (GRCm39) I3N probably damaging Het
Or1j19 A G 2: 36,676,696 (GRCm39) D53G probably damaging Het
Or2ag1b C T 7: 106,288,187 (GRCm39) M250I probably benign Het
Or4c103 T A 2: 88,513,423 (GRCm39) I218F probably benign Het
Or8c20 C A 9: 38,260,658 (GRCm39) S87* probably null Het
Pcnt G A 10: 76,203,164 (GRCm39) T2646M probably benign Het
Phf10 A T 17: 15,166,512 (GRCm39) C453S probably damaging Het
Plcb4 T A 2: 135,812,367 (GRCm39) probably null Het
Plekhh1 A G 12: 79,123,482 (GRCm39) H1185R probably benign Het
Prmt3 G T 7: 49,476,602 (GRCm39) V404L probably benign Het
Ptprb T A 10: 116,175,372 (GRCm39) D1122E probably benign Het
Rars1 A G 11: 35,711,921 (GRCm39) probably null Het
Rasa2 G T 9: 96,427,803 (GRCm39) N687K possibly damaging Het
Rbm11 A G 16: 75,393,423 (GRCm39) T40A probably damaging Het
Rem2 T C 14: 54,713,775 (GRCm39) V16A probably benign Het
Rlf A T 4: 121,007,588 (GRCm39) M574K possibly damaging Het
Rpap3 A T 15: 97,592,098 (GRCm39) V186D possibly damaging Het
Sertad3 G A 7: 27,176,048 (GRCm39) E161K probably damaging Het
Sh3gl2 T C 4: 85,304,130 (GRCm39) S278P probably benign Het
Strn3 T C 12: 51,680,401 (GRCm39) T400A probably benign Het
Sycp2 A T 2: 178,024,178 (GRCm39) I402N probably damaging Het
Synj1 C T 16: 90,784,290 (GRCm39) V283I probably benign Het
Tas2r108 A G 6: 40,471,000 (GRCm39) probably null Het
Ttpal A G 2: 163,457,323 (GRCm39) N265S probably benign Het
Unc80 G A 1: 66,677,116 (GRCm39) G2015D probably damaging Het
Upf1 C T 8: 70,796,017 (GRCm39) W138* probably null Het
Vmn1r25 T G 6: 57,955,786 (GRCm39) M168L probably benign Het
Vmn2r18 A T 5: 151,510,301 (GRCm39) F24Y probably benign Het
Vmn2r4 G T 3: 64,296,865 (GRCm39) T640N probably damaging Het
Wdr75 T A 1: 45,843,030 (GRCm39) probably null Het
Zdbf2 T G 1: 63,342,747 (GRCm39) S375R possibly damaging Het
Zfp648 A G 1: 154,080,138 (GRCm39) Q99R probably benign Het
Zfp964 C T 8: 70,115,654 (GRCm39) P85S probably benign 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
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
R6275:Folr1 UTSW 7 101,508,742 (GRCm39) missense probably damaging 0.99
R7284:Folr1 UTSW 7 101,508,677 (GRCm39) missense possibly damaging 0.67
Predicted Primers PCR Primer
(F):5'- TTAAAGAGGCTGTCAGAGCCCCAC -3'
(R):5'- GCACAGGGACTAACGATCTTCCATC -3'

Sequencing Primer
(F):5'- CCACCACAAAGGAGGCTGG -3'
(R):5'- GCTGCTCTGTGTGAGGAAATCT -3'
Posted On 2014-04-13