Mutagenetix > Incidental Mutation

Incidental Mutation 'R5319:Folr1'

405985

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

042902-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101507551-101519974 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101513184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 37 (D37V)

Ref Sequence

ENSEMBL: ENSMUSP00000115077 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106981] [ENSMUST00000106982] [ENSMUST00000106983] [ENSMUST00000106985] [ENSMUST00000106986] [ENSMUST00000123321] [ENSMUST00000150184] [ENSMUST00000134145] [ENSMUST00000140068] [ENSMUST00000151706] [ENSMUST00000126204] [ENSMUST00000155311] [ENSMUST00000123630] [ENSMUST00000209334] [ENSMUST00000124026] [ENSMUST00000140584]

AlphaFold

P35846

Predicted Effect

probably damaging
Transcript: ENSMUST00000001882
AA Change: D37V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001882
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
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: ENSMUST00000106981
AA Change: D37V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102594
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
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: D37V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102595
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
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: D37V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102596
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
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: D37V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102598
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
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: D37V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000102599
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
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: ENSMUST00000123321
AA Change: D37V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114167
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PDB:4LRH\|H	21	54	6e-13	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000150184
AA Change: D37V

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000134145
AA Change: D37V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118547
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Folate_rec	34	104	2.6e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000140068
AA Change: D37V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114633
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Folate_rec	34	160	9.5e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000151706
AA Change: D37V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115077
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Folate_rec	34	157	8.9e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000126204
AA Change: D37V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117175
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Folate_rec	34	137	2.9e-38	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000155311
AA Change: D37V

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115360
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PDB:4LRH\|H	21	53	3e-12	PDB

Predicted Effect

probably damaging
Transcript: ENSMUST00000123630
AA Change: D37V

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121947
Gene: ENSMUSG00000001827
AA Change: D37V

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
PDB:4LRH\|H	21	54	4e-13	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000209334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125298

Predicted Effect

probably benign
Transcript: ENSMUST00000124026

Predicted Effect

probably benign
Transcript: ENSMUST00000140584

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (69/73)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,441,506 (GRCm39)	S218P	probably benign	Het
Ahctf1	A	C	1: 179,596,615 (GRCm39)	S121A	probably damaging	Het
Anpep	C	T	7: 79,491,479 (GRCm39)	R174H	probably benign	Het
Arhgef18	T	C	8: 3,435,010 (GRCm39)		probably null	Het
Becn1	A	G	11: 101,179,629 (GRCm39)		probably benign	Het
Cabin1	T	C	10: 75,561,549 (GRCm39)	Y984C	probably damaging	Het
Cacna2d4	G	T	6: 119,324,213 (GRCm39)		probably null	Het
Ccdc14	T	G	16: 34,543,542 (GRCm39)	N633K	probably damaging	Het
Cdk5rap1	T	A	2: 154,177,489 (GRCm39)	T577S	possibly damaging	Het
Clca4b	T	C	3: 144,630,940 (GRCm39)	R307G	possibly damaging	Het
Colgalt2	A	G	1: 152,360,620 (GRCm39)	Q219R	possibly damaging	Het
Cops3	A	T	11: 59,718,762 (GRCm39)	D177E	possibly damaging	Het
Cyp2d9	T	C	15: 82,338,256 (GRCm39)	Y127H	probably damaging	Het
Dnajc11	A	G	4: 152,052,983 (GRCm39)	T98A	probably damaging	Het
Dst	T	C	1: 34,265,058 (GRCm39)	S4757P	possibly damaging	Het
Dvl2	C	T	11: 69,898,957 (GRCm39)	T448I	possibly damaging	Het
E230016K23Rik	T	G	11: 83,512,496 (GRCm39)		noncoding transcript	Het
Efl1	G	T	7: 82,323,714 (GRCm39)	D219Y	probably damaging	Het
Epha10	T	A	4: 124,807,793 (GRCm39)		probably benign	Het
Fbxw22	T	A	9: 109,213,015 (GRCm39)	T311S	possibly damaging	Het
Fshb	T	A	2: 106,889,224 (GRCm39)	I27F	probably damaging	Het
Gm8521	A	T	Y: 3,859,335 (GRCm39)		noncoding transcript	Het
Gpr45	T	C	1: 43,071,998 (GRCm39)	S214P	probably damaging	Het
Hgf	G	A	5: 16,771,860 (GRCm39)		probably null	Het
Hs6st1	T	C	1: 36,143,259 (GRCm39)	V398A	probably benign	Het
Ighmbp2	A	G	19: 3,321,646 (GRCm39)	V371A	probably damaging	Het
Kif18a	T	A	2: 109,148,370 (GRCm39)	N621K	probably benign	Het
Lama5	A	G	2: 179,822,911 (GRCm39)	F2785S	probably damaging	Het
Lcor	G	A	19: 41,574,791 (GRCm39)	G1182D	probably damaging	Het
Lrriq3	T	C	3: 154,835,108 (GRCm39)	I281T	possibly damaging	Het
Macf1	C	T	4: 123,367,229 (GRCm39)	A2511T	probably damaging	Het
Mark4	T	C	7: 19,170,886 (GRCm39)	D328G	possibly damaging	Het
Myo1c	G	A	11: 75,552,852 (GRCm39)	E434K	possibly damaging	Het
Nfe2l1	A	G	11: 96,710,205 (GRCm39)	S387P	probably damaging	Het
Nr1d2	A	G	14: 18,215,197 (GRCm38)	S272P	probably benign	Het
Nsrp1	T	C	11: 76,940,293 (GRCm39)	H104R	probably damaging	Het
Odf1	T	A	15: 38,219,863 (GRCm39)	S64T	probably benign	Het
Or2aa1	A	T	11: 59,480,477 (GRCm39)	V146E	probably damaging	Het
Or4c106	T	A	2: 88,683,122 (GRCm39)	I276K	probably damaging	Het
Or7g25	C	T	9: 19,160,329 (GRCm39)	R122H	possibly damaging	Het
Pde4b	C	A	4: 102,278,985 (GRCm39)		probably benign	Het
Phox2a	C	T	7: 101,470,057 (GRCm39)	T96M	probably damaging	Het
Plg	A	G	17: 12,622,114 (GRCm39)	E478G	possibly damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Ppp1r12c	T	A	7: 4,486,983 (GRCm39)	T517S	probably benign	Het
Ptk7	C	T	17: 46,883,603 (GRCm39)	V821M	probably damaging	Het
Ptpn6	C	T	6: 124,709,913 (GRCm39)	V2M	probably benign	Het
Rgl2	T	C	17: 34,152,529 (GRCm39)	V380A	probably benign	Het
Rpl13a-ps1	A	G	19: 50,018,591 (GRCm39)	V195A	possibly damaging	Het
Rsph1	C	A	17: 31,492,351 (GRCm39)	V72F	probably benign	Het
Sh3bp4	T	C	1: 89,073,072 (GRCm39)	V640A	probably benign	Het
Simc1	T	A	13: 54,672,795 (GRCm39)	V381E	probably benign	Het
Slc15a3	A	T	19: 10,833,296 (GRCm39)	T438S	probably damaging	Het
Slc5a4b	C	T	10: 75,898,233 (GRCm39)	V494M	probably benign	Het
Sos2	C	A	12: 69,674,058 (GRCm39)	R335L	probably benign	Het
Trp53i13	A	T	11: 77,399,566 (GRCm39)	N254K	probably damaging	Het
Trpc6	A	G	9: 8,609,922 (GRCm39)	Y130C	probably damaging	Het
Trpv1	A	G	11: 73,130,415 (GRCm39)	I174V	probably damaging	Het
Tsnax	T	A	8: 125,742,458 (GRCm39)	D62E	probably damaging	Het
Vezt	T	A	10: 93,806,193 (GRCm39)	E739D	probably benign	Het
Vmn1r59	T	A	7: 5,457,209 (GRCm39)	I184F	probably damaging	Het
Yeats2	T	C	16: 20,005,175 (GRCm39)	V385A	probably benign	Het

Other mutations in Folr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- GCTACCAGGAAGATGAGCTG -3'
(R):5'- TGGAGCTGAGCACACACTTG -3'

Sequencing Primer
(F):5'- ATATCACACTGGCAGTTGGC -3'
(R):5'- TGAGCACACACTTGGAGGTTC -3'

Posted On

2016-07-22