Mutagenetix > Incidental Mutation

Incidental Mutation 'R4747:Folr1'

357193

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

042029-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4747 (G1)

Quality Score

225

Status

Not 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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402D24Rik	A	G	1: 63,795,568 (GRCm39)		probably benign	Het
Acadvl	G	T	11: 69,903,334 (GRCm39)	N340K	probably damaging	Het
Adgrl4	T	A	3: 151,213,077 (GRCm39)	N372K	probably benign	Het
Adh1	G	A	3: 137,994,642 (GRCm39)	G321S	probably damaging	Het
Ankrd26	G	T	6: 118,504,718 (GRCm39)	N730K	probably benign	Het
Aoc2	A	T	11: 101,219,646 (GRCm39)		probably null	Het
Arhgef4	A	G	1: 34,762,355 (GRCm39)	E537G	unknown	Het
Ccdc7b	T	C	8: 129,904,716 (GRCm39)	V118A	probably benign	Het
Ccdc88b	T	A	19: 6,833,509 (GRCm39)	R219W	probably damaging	Het
Ccdc97	T	C	7: 25,418,348 (GRCm39)		probably null	Het
Cfhr4	A	T	1: 139,625,922 (GRCm39)	C792S	probably damaging	Het
Ciao3	A	T	17: 25,999,327 (GRCm39)	Y247F	probably benign	Het
Cnot1	T	C	8: 96,501,310 (GRCm39)	N86S	probably benign	Het
Comp	T	C	8: 70,829,352 (GRCm39)	C310R	probably damaging	Het
Crtc2	A	T	3: 90,167,518 (GRCm39)	N281Y	probably damaging	Het
Cryl1	T	C	14: 57,550,559 (GRCm39)	K102E	probably damaging	Het
Csf2ra	G	A	19: 61,214,491 (GRCm39)	R225*	probably null	Het
Dao	A	T	5: 114,150,693 (GRCm39)	D99V	probably benign	Het
Dgkd	A	G	1: 87,861,889 (GRCm39)	T815A	probably damaging	Het
Dhrs7	T	C	12: 72,699,892 (GRCm39)	T247A	probably benign	Het
Dnah7c	G	C	1: 46,572,328 (GRCm39)	D934H	probably damaging	Het
Dnajc15	T	C	14: 78,081,896 (GRCm39)	Y82C	probably benign	Het
Dnajc4	T	C	19: 6,966,872 (GRCm39)	Q152R	probably damaging	Het
Dsc1	T	C	18: 20,227,615 (GRCm39)	K541R	probably damaging	Het
Elp4	G	A	2: 105,624,952 (GRCm39)	R196C	probably damaging	Het
Epha8	GC	G	4: 136,666,006 (GRCm39)		probably null	Het
Ercc6	T	C	14: 32,291,864 (GRCm39)	V1076A	probably benign	Het
Fgd4	T	C	16: 16,241,793 (GRCm39)	Y677C	probably damaging	Het
Fndc3b	C	A	3: 27,483,114 (GRCm39)	C1028F	probably damaging	Het
Gabrr3	T	A	16: 59,268,277 (GRCm39)		probably null	Het
Garem1	C	A	18: 21,263,000 (GRCm39)	V605L	probably benign	Het
Gbp7	A	T	3: 142,248,778 (GRCm39)	D347V	probably damaging	Het
Gdpd4	A	G	7: 97,610,840 (GRCm39)	T87A	possibly damaging	Het
Gm12258	C	A	11: 58,750,422 (GRCm39)	H532Q	probably damaging	Het
Herc2	A	G	7: 55,756,141 (GRCm39)	E727G	possibly damaging	Het
Hfm1	G	A	5: 107,065,389 (GRCm39)	H97Y	probably benign	Het
Idua	G	T	5: 108,828,902 (GRCm39)	R335L	probably damaging	Het
Ifi207	A	G	1: 173,556,633 (GRCm39)	S702P	probably benign	Het
Kif16b	A	T	2: 142,699,346 (GRCm39)	V78D	probably damaging	Het
Klra17	T	A	6: 129,849,232 (GRCm39)	D114V	probably damaging	Het
Krt76	A	G	15: 101,794,180 (GRCm39)	S481P	probably damaging	Het
Lhfpl5	A	G	17: 28,798,950 (GRCm39)	D153G	probably damaging	Het
Med21	T	A	6: 146,550,700 (GRCm39)	D70E	possibly damaging	Het
Mroh3	A	T	1: 136,113,237 (GRCm39)	M739K	probably benign	Het
Myo1a	A	G	10: 127,550,307 (GRCm39)	E549G	probably damaging	Het
Neu1	A	G	17: 35,153,359 (GRCm39)	D294G	possibly damaging	Het
Nmur2	A	T	11: 55,931,105 (GRCm39)	I202K	probably benign	Het
Nop2	T	A	6: 125,114,057 (GRCm39)	D174E	probably benign	Het
Ogfr	A	T	2: 180,236,216 (GRCm39)	H267L	probably damaging	Het
Or10p1	G	T	10: 129,444,053 (GRCm39)	A99E	possibly damaging	Het
Or5m8	A	G	2: 85,822,271 (GRCm39)	T37A	probably damaging	Het
P2ry13	T	A	3: 59,117,308 (GRCm39)	I157F	probably benign	Het
Pank4	T	C	4: 155,063,989 (GRCm39)	V660A	probably damaging	Het
Pax6	C	A	2: 105,526,847 (GRCm39)	P251Q	probably benign	Het
Pcdhb13	T	C	18: 37,577,868 (GRCm39)	Y749H	probably damaging	Het
Pcdhga3	C	A	18: 37,809,799 (GRCm39)	Q751K	probably benign	Het
Pcnt	C	T	10: 76,272,299 (GRCm39)	E186K	possibly damaging	Het
Pecam1	A	T	11: 106,575,072 (GRCm39)	F613I	probably benign	Het
Pias2	T	C	18: 77,240,488 (GRCm39)	*615Q	probably null	Het
Plb1	A	T	5: 32,507,003 (GRCm39)	M1193L	probably benign	Het
Pomgnt1	T	C	4: 116,013,396 (GRCm39)	L506P	probably damaging	Het
Qrfp	T	C	2: 31,698,852 (GRCm39)	T27A	probably damaging	Het
Relb	C	A	7: 19,361,847 (GRCm39)		probably null	Het
Resf1	A	T	6: 149,228,392 (GRCm39)	E479D	probably damaging	Het
Rgl1	G	T	1: 152,400,450 (GRCm39)	C685*	probably null	Het
Ric8b	A	G	10: 84,753,628 (GRCm39)	Y8C	probably benign	Het
Rrp36	G	A	17: 46,980,893 (GRCm39)	A161V	possibly damaging	Het
Samd9l	G	A	6: 3,375,504 (GRCm39)	Q586*	probably null	Het
Sbf1	C	T	15: 89,186,916 (GRCm39)	D821N	probably damaging	Het
Septin8	G	C	11: 53,427,545 (GRCm39)	A255P	probably damaging	Het
Skp2	T	C	15: 9,113,927 (GRCm39)	T329A	possibly damaging	Het
Slc15a2	C	T	16: 36,592,498 (GRCm39)	V220M	probably damaging	Het
Slc25a11	T	A	11: 70,536,782 (GRCm39)	T63S	possibly damaging	Het
Sowahc	T	C	10: 59,058,983 (GRCm39)	I373T	probably benign	Het
Sptbn2	T	A	19: 4,798,182 (GRCm39)	M1969K	probably benign	Het
St14	G	A	9: 31,015,053 (GRCm39)	T315M	possibly damaging	Het
Tagap	G	A	17: 8,151,030 (GRCm39)	R284H	probably benign	Het
Tdpoz3	T	A	3: 93,733,476 (GRCm39)	S50R	possibly damaging	Het
Thoc5	A	G	11: 4,854,187 (GRCm39)	D182G	probably damaging	Het
Tinag	A	G	9: 76,904,238 (GRCm39)	V395A	probably benign	Het
Tmc8	A	G	11: 117,683,550 (GRCm39)	S702G	probably benign	Het
Tmem202	A	G	9: 59,426,477 (GRCm39)	S230P	possibly damaging	Het
Tmem203	T	C	2: 25,145,764 (GRCm39)	V28A	probably benign	Het
Traf3ip1	A	T	1: 91,455,479 (GRCm39)	S647C	probably damaging	Het
Tram1	A	T	1: 13,659,870 (GRCm39)	I26N	probably damaging	Het
Ttc6	A	T	12: 57,721,478 (GRCm39)	D989V	possibly damaging	Het
Ttll6	A	G	11: 96,036,372 (GRCm39)	T334A	possibly damaging	Het
Ttn	A	T	2: 76,750,086 (GRCm39)	D3654E	probably damaging	Het
Ufd1	T	G	16: 18,639,832 (GRCm39)	V112G	probably damaging	Het
Usp9y	A	T	Y: 1,391,284 (GRCm39)	Y629N	possibly damaging	Het
Vmn2r1	A	G	3: 63,989,267 (GRCm39)	I69V	probably benign	Het
Zfp180	A	T	7: 23,805,246 (GRCm39)	Y555F	probably damaging	Het
Zfp438	T	C	18: 5,214,403 (GRCm39)	N185S	probably benign	Het
Zfp445	C	T	9: 122,686,215 (GRCm39)	V15I	possibly damaging	Het
Zfp462	A	G	4: 55,013,476 (GRCm39)	E1814G	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
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'- TCAGCTACCAGGAAGATGAGC -3'
(R):5'- TGGAGCTGAGCACACACTTG -3'

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

Posted On

2015-11-11