Incidental Mutation 'IGL01916:Folr1'
ID179964
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Folr1
Ensembl Gene ENSMUSG00000001827
Gene Namefolate receptor 1 (adult)
SynonymsFolbp-1, folate receptor [a], Folbp1, folate-binding protein 1, FBP1
Accession Numbers

Ncbi RefSeq: NM_001252552.1, NM_008034.3, NM_001252553.1, NM_001252554.1; MGI:95568

Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01916
Quality Score
Status
Chromosome7
Chromosomal Location101858331-101870788 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 101858740 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 164 (H164Q)
Ref Sequence ENSEMBL: ENSMUSP00000102599 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106981] [ENSMUST00000106982] [ENSMUST00000106983] [ENSMUST00000106985] [ENSMUST00000106986] [ENSMUST00000126204] [ENSMUST00000134145] [ENSMUST00000140068] [ENSMUST00000151706] [ENSMUST00000209334] [ENSMUST00000210598]
Predicted Effect probably benign
Transcript: ENSMUST00000106981
AA Change: H164Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102594
Gene: ENSMUSG00000001827
AA Change: H164Q

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: H164Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102595
Gene: ENSMUSG00000001827
AA Change: H164Q

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: H164Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102596
Gene: ENSMUSG00000001827
AA Change: H164Q

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: H164Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102598
Gene: ENSMUSG00000001827
AA Change: H164Q

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: H164Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000102599
Gene: ENSMUSG00000001827
AA Change: H164Q

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: 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
Predicted Effect probably benign
Transcript: ENSMUST00000209334
Predicted Effect probably benign
Transcript: ENSMUST00000210598
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 2383986
Lethality: E8-E10
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik T C 11: 109,794,111 T187A probably damaging Het
A430005L14Rik C A 4: 153,961,540 F214L possibly damaging Het
A830018L16Rik C A 1: 11,748,107 probably benign Het
Adgrd1 T C 5: 129,132,838 S342P probably benign Het
Aldh4a1 A G 4: 139,644,146 Y457C probably damaging Het
Ankrd7 A T 6: 18,868,251 E124V possibly damaging Het
Atad5 T A 11: 80,112,839 probably null Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Card14 T C 11: 119,343,145 Y854H probably benign Het
Ccdc85c T C 12: 108,207,844 H355R probably damaging Het
Ccr3 T A 9: 124,029,552 V308D probably damaging Het
Cep170 T C 1: 176,739,910 probably benign Het
Cmtr2 C A 8: 110,221,948 Q297K probably benign Het
Col19a1 A C 1: 24,534,241 L150R unknown Het
Cwf19l2 T C 9: 3,477,869 I858T possibly damaging Het
Cyp39a1 C T 17: 43,731,050 P383S probably damaging Het
Ddi2 C T 4: 141,695,398 probably benign Het
Dnah17 T G 11: 118,125,288 I342L probably benign Het
Efhc1 T C 1: 20,978,749 I462T probably damaging Het
Ephx4 A T 5: 107,406,030 probably null Het
Fam193b A G 13: 55,550,218 probably benign Het
Fbn1 T C 2: 125,315,446 N2306D possibly damaging Het
Fut10 T C 8: 31,235,706 V163A probably benign Het
Gal3st4 G A 5: 138,270,935 R83C probably damaging Het
Galnt16 T C 12: 80,592,490 probably null Het
Gata5 G A 2: 180,326,941 S380F possibly damaging Het
Gm1966 T G 7: 106,601,826 H737P probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4787 A T 12: 81,377,444 L647M probably benign Het
Hcfc2 A G 10: 82,734,383 K523E possibly damaging Het
Igkv6-15 A T 6: 70,406,474 Y114* probably null Het
Il10ra A T 9: 45,256,146 L369Q probably damaging Het
Il6st A G 13: 112,480,072 K51R possibly damaging Het
Kif26a C T 12: 112,176,894 P1194L possibly damaging Het
Kntc1 T G 5: 123,801,913 L1590R probably damaging Het
Lipo1 G T 19: 33,784,782 A105E probably damaging Het
Macf1 T A 4: 123,441,630 S4382C probably damaging Het
Macf1 C T 4: 123,476,037 E79K probably damaging Het
Nmnat2 T C 1: 153,094,046 I195T probably damaging Het
Olfr741 A G 14: 50,485,493 T12A probably benign Het
Pcdhb13 A G 18: 37,443,861 T431A possibly damaging Het
Pcgf3 G A 5: 108,486,179 G101D probably benign Het
Phip T C 9: 82,890,469 D1070G possibly damaging Het
Ren1 A G 1: 133,358,412 H231R probably benign Het
Sox9 C A 11: 112,784,674 Q230K probably benign Het
Stard9 T A 2: 120,668,016 Y154N probably damaging Het
Thnsl1 A T 2: 21,212,665 N410I possibly damaging Het
Tnfrsf21 A T 17: 43,039,803 E286V probably benign Het
Trbv13-1 A G 6: 41,116,312 R60G probably damaging Het
Ttc30a1 C A 2: 75,980,879 V287L probably damaging Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wrn T A 8: 33,257,224 I1110F possibly damaging Het
Zfp777 G T 6: 48,025,342 R649S probably damaging Het
Zmym6 T A 4: 127,123,756 I1110N probably damaging Het
Other mutations in Folr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02423:Folr1 APN 7 101858525 missense probably benign 0.00
R0071:Folr1 UTSW 7 101863923 critical splice donor site probably null
R0071:Folr1 UTSW 7 101863923 critical splice donor site probably null
R1022:Folr1 UTSW 7 101858603 missense probably damaging 0.98
R1024:Folr1 UTSW 7 101858603 missense probably damaging 0.98
R1562:Folr1 UTSW 7 101858594 missense probably damaging 0.98
R2299:Folr1 UTSW 7 101863992 missense probably damaging 1.00
R3690:Folr1 UTSW 7 101858538 missense probably benign 0.06
R4746:Folr1 UTSW 7 101863977 missense probably damaging 1.00
R4747:Folr1 UTSW 7 101863977 missense probably damaging 1.00
R5319:Folr1 UTSW 7 101863977 missense probably damaging 1.00
R6243:Folr1 UTSW 7 101863965 missense probably damaging 1.00
R6275:Folr1 UTSW 7 101859535 missense probably damaging 0.99
R7284:Folr1 UTSW 7 101859470 missense possibly damaging 0.67
Posted On2014-05-07