Incidental Mutation 'IGL02423:Folr1'
ID 292793
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Folr1
Ensembl Gene ENSMUSG00000001827
Gene Name folate receptor alpha
Synonyms folate receptor [a], Folbp1, FBP1, folate-binding protein 1, Folbp-1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02423
Quality Score
Status
Chromosome 7
Chromosomal Location 101507551-101519974 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 101507732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 236 (F236S)
Ref Sequence ENSEMBL: ENSMUSP00000102599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106981] [ENSMUST00000106982] [ENSMUST00000106983] [ENSMUST00000106985] [ENSMUST00000106986] [ENSMUST00000126204] [ENSMUST00000134145] [ENSMUST00000210598] [ENSMUST00000140068] [ENSMUST00000151706]
AlphaFold P35846
Predicted Effect probably benign
Transcript: ENSMUST00000106981
AA Change: F236S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102594
Gene: ENSMUSG00000001827
AA Change: F236S

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: ENSMUST00000106982
AA Change: F236S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102595
Gene: ENSMUSG00000001827
AA Change: F236S

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: ENSMUST00000106983
AA Change: F236S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102596
Gene: ENSMUSG00000001827
AA Change: F236S

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 benign
Transcript: ENSMUST00000106985
AA Change: F236S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102598
Gene: ENSMUSG00000001827
AA Change: F236S

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: ENSMUST00000106986
AA Change: F236S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000102599
Gene: ENSMUSG00000001827
AA Change: F236S

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: 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: ENSMUST00000210598
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
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
Coding Region Coverage
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,377,236 (GRCm39) S404P probably damaging Het
A930011G23Rik G A 5: 99,377,241 (GRCm39) P402L probably damaging Het
Abca6 A G 11: 110,109,832 (GRCm39) probably benign Het
Adarb2 A T 13: 8,619,756 (GRCm39) R81W probably damaging Het
Adgrf4 T C 17: 42,983,467 (GRCm39) I72V probably benign Het
Banp A G 8: 122,733,830 (GRCm39) I360V probably benign Het
Bmp8a C A 4: 123,210,220 (GRCm39) G289C possibly damaging Het
Car3 A T 3: 14,931,911 (GRCm39) H94L probably damaging Het
Ccdc137 G A 11: 120,350,927 (GRCm39) R108H possibly damaging Het
Cdk14 T C 5: 4,938,905 (GRCm39) N411S probably benign Het
Col4a2 A G 8: 11,483,800 (GRCm39) M907V probably benign Het
Cyp4f17 T A 17: 32,725,923 (GRCm39) W19R possibly damaging Het
Dmxl2 A G 9: 54,301,032 (GRCm39) S2360P possibly damaging Het
Eif2d T G 1: 131,081,097 (GRCm39) probably benign Het
Epx A G 11: 87,762,144 (GRCm39) I369T possibly damaging Het
Fcgbp A G 7: 27,789,378 (GRCm39) E648G probably benign Het
Fer1l4 G A 2: 155,894,827 (GRCm39) P14L probably benign Het
Foxj2 T G 6: 122,819,732 (GRCm39) M540R possibly damaging Het
Gtf2h1 A G 7: 46,464,824 (GRCm39) T420A probably benign Het
H2-T3 T A 17: 36,498,248 (GRCm39) T222S probably damaging Het
Ice1 A T 13: 70,740,718 (GRCm39) M2163K probably damaging Het
Inppl1 A G 7: 101,481,450 (GRCm39) V244A probably benign Het
Kansl3 A T 1: 36,391,050 (GRCm39) V373D probably damaging Het
Kdm3a A G 6: 71,590,987 (GRCm39) probably benign Het
Krtap1-3 A T 11: 99,481,680 (GRCm39) C156S unknown Het
Mab21l3 T C 3: 101,726,045 (GRCm39) D317G probably damaging Het
Nherf1 A G 11: 115,054,539 (GRCm39) probably null Het
Nox3 T C 17: 3,733,191 (GRCm39) H240R probably damaging Het
Nxn A T 11: 76,164,858 (GRCm39) S218T probably benign Het
Or5h22 A T 16: 58,894,630 (GRCm39) I271K probably benign Het
Or6c35 G A 10: 129,169,397 (GRCm39) V216I probably benign Het
Pcdhb13 T C 18: 37,577,392 (GRCm39) V590A possibly damaging Het
Pim3 T C 15: 88,747,734 (GRCm39) V200A probably benign Het
Plekha3 T C 2: 76,510,524 (GRCm39) F20L probably damaging Het
Pmp22 G T 11: 63,049,118 (GRCm39) R120S possibly damaging Het
Ppp1r9a A C 6: 4,906,537 (GRCm39) D364A probably benign Het
Psd A G 19: 46,302,943 (GRCm39) F155L possibly damaging Het
Rbm22 T C 18: 60,704,891 (GRCm39) probably benign Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Ryr2 A T 13: 11,760,084 (GRCm39) F1556I probably damaging Het
Scap G A 9: 110,207,685 (GRCm39) A465T probably benign Het
Sdf2 A G 11: 78,141,844 (GRCm39) S60G probably damaging Het
Sema3a T C 5: 13,615,776 (GRCm39) I400T probably damaging Het
Ski T C 4: 155,244,191 (GRCm39) D478G probably damaging Het
Slc12a7 A T 13: 73,911,882 (GRCm39) probably benign Het
Sned1 A G 1: 93,211,322 (GRCm39) T1074A probably benign Het
Srebf2 A G 15: 82,059,298 (GRCm39) T239A probably damaging Het
Stk4 C T 2: 163,928,419 (GRCm39) H84Y probably benign Het
Syne1 G T 10: 5,318,295 (GRCm39) Q444K probably benign Het
Tecpr1 T A 5: 144,140,305 (GRCm39) I817F possibly damaging Het
Tep1 G T 14: 51,082,077 (GRCm39) Q1159K possibly damaging Het
Tmem39b G A 4: 129,572,442 (GRCm39) H387Y probably damaging Het
Tpp1 T C 7: 105,398,907 (GRCm39) H174R probably damaging Het
Ttn C T 2: 76,535,617 (GRCm39) V35134I probably benign Het
Usp34 A G 11: 23,304,900 (GRCm39) I378V probably benign Het
Vinac1 T C 2: 128,889,968 (GRCm39) E42G probably benign Het
Vmn2r1 T A 3: 63,997,665 (GRCm39) H440Q probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Zcchc7 T A 4: 44,931,244 (GRCm39) D144E possibly damaging Het
Zic4 C A 9: 91,266,228 (GRCm39) H284N probably damaging Het
Zkscan6 A G 11: 65,719,120 (GRCm39) H380R probably benign Het
Other mutations in Folr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Folr1 APN 7 101,507,947 (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
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
Posted On 2015-04-16