Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00966:Folr2'

27898

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Folr2

Ensembl Gene

ENSMUSG00000032725

Gene Name

folate receptor beta

Synonyms

Folbp2, Folbp-2, FR-P3, Folbp2, FBP2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00966

Quality Score

Status

Chromosome

Chromosomal Location

101489195-101506397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101489593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 182 (E182G)

Ref Sequence

ENSEMBL: ENSMUSP00000147920 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035836] [ENSMUST00000094141] [ENSMUST00000165052] [ENSMUST00000185929] [ENSMUST00000209329] [ENSMUST00000210598] [ENSMUST00000211566]

AlphaFold

Q05685

Predicted Effect

probably benign
Transcript: ENSMUST00000035836

SMART Domains

Protein: ENSMUSP00000048057
Gene: ENSMUSG00000032737

Domain	Start	End	E-Value	Type
SH2	19	108	1.21e-26	SMART
low complexity region	116	137	N/A	INTRINSIC
low complexity region	156	175	N/A	INTRINSIC
Blast:IPPc	250	349	5e-14	BLAST
IPPc	423	736	3.98e-137	SMART
low complexity region	934	957	N/A	INTRINSIC
low complexity region	997	1013	N/A	INTRINSIC
low complexity region	1036	1047	N/A	INTRINSIC
low complexity region	1049	1068	N/A	INTRINSIC
low complexity region	1089	1102	N/A	INTRINSIC
SAM	1192	1257	2.47e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000094141
AA Change: E182G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091692
Gene: ENSMUSG00000032725
AA Change: E182G

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:Folate_rec	29	203	2.5e-64	PFAM
low complexity region	233	250	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098239

Predicted Effect

probably benign
Transcript: ENSMUST00000165052

SMART Domains

Protein: ENSMUSP00000132883
Gene: ENSMUSG00000032737

Domain	Start	End	E-Value	Type
SH2	19	108	1.21e-26	SMART
low complexity region	116	137	N/A	INTRINSIC
low complexity region	156	175	N/A	INTRINSIC
Blast:IPPc	250	349	5e-14	BLAST
IPPc	423	736	3.98e-137	SMART
low complexity region	934	957	N/A	INTRINSIC
low complexity region	997	1013	N/A	INTRINSIC
low complexity region	1036	1047	N/A	INTRINSIC
low complexity region	1049	1068	N/A	INTRINSIC
low complexity region	1089	1102	N/A	INTRINSIC
SAM	1192	1257	2.47e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185929

SMART Domains

Protein: ENSMUSP00000139910
Gene: ENSMUSG00000032737

Domain	Start	End	E-Value	Type
SH2	19	108	7.6e-29	SMART
low complexity region	116	137	N/A	INTRINSIC
low complexity region	156	175	N/A	INTRINSIC
Blast:IPPc	250	349	4e-14	BLAST
IPPc	423	736	1.9e-139	SMART
low complexity region	934	957	N/A	INTRINSIC
low complexity region	997	1013	N/A	INTRINSIC
low complexity region	1036	1047	N/A	INTRINSIC
low complexity region	1049	1068	N/A	INTRINSIC
low complexity region	1089	1102	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000209329

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209481

Predicted Effect

probably damaging
Transcript: ENSMUST00000210598
AA Change: E182G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209861

Predicted Effect

probably benign
Transcript: ENSMUST00000211566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211428

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211604

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a receptor protein located on the plasma membrane that mediates folate uptake by cells. Mice lacking the product of this gene show no defects in embryonic development and grow normally into fertile adults. However, such mice were found to be highly susceptible to the teratogenic effects of arsenic. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and physically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,003,855 (GRCm39)	E649G	probably damaging	Het
Adgre1	C	A	17: 57,726,335 (GRCm39)	T402K	probably benign	Het
Agap3	A	G	5: 24,706,000 (GRCm39)		probably benign	Het
Amy1	T	C	3: 113,349,689 (GRCm39)	I494V	probably benign	Het
Arhgef40	G	A	14: 52,229,155 (GRCm39)		probably null	Het
Atp2c2	T	C	8: 120,472,329 (GRCm39)	V461A	probably benign	Het
Bub1	A	G	2: 127,652,583 (GRCm39)	S595P	probably damaging	Het
Cdcp3	T	A	7: 130,844,836 (GRCm39)	Y692*	probably null	Het
Cmya5	C	T	13: 93,234,414 (GRCm39)	V225I	probably benign	Het
Cnbd1	T	C	4: 18,906,988 (GRCm39)		probably benign	Het
Cux1	A	T	5: 136,340,345 (GRCm39)		probably benign	Het
Dsg3	T	A	18: 20,656,664 (GRCm39)	I178N	probably benign	Het
Dus2	T	A	8: 106,752,533 (GRCm39)		probably null	Het
Enpp1	G	A	10: 24,529,929 (GRCm39)	H570Y	probably damaging	Het
Ephb3	A	C	16: 21,036,044 (GRCm39)	T57P	probably benign	Het
Fat3	C	A	9: 15,910,390 (GRCm39)	V1871F	possibly damaging	Het
Fbll1	T	C	11: 35,688,874 (GRCm39)	T130A	probably benign	Het
Fbxl20	C	T	11: 98,001,800 (GRCm39)	S99N	probably damaging	Het
Fras1	A	G	5: 96,703,080 (GRCm39)	D281G	probably benign	Het
Gm17175	G	T	14: 51,810,526 (GRCm39)	Q34K	possibly damaging	Het
Gm5592	T	A	7: 40,938,519 (GRCm39)	D600E	probably damaging	Het
Gtf2e1	T	C	16: 37,336,092 (GRCm39)	E294G	probably benign	Het
Gtf3c2	A	G	5: 31,327,517 (GRCm39)		probably benign	Het
Heg1	T	C	16: 33,530,977 (GRCm39)	L151P	probably damaging	Het
Hmcn2	T	G	2: 31,319,006 (GRCm39)	V3902G	probably damaging	Het
Ift140	A	G	17: 25,237,776 (GRCm39)	Y4C	probably damaging	Het
Ighv1-19	A	C	12: 114,672,569 (GRCm39)	V17G	possibly damaging	Het
Iqca1	T	A	1: 89,973,379 (GRCm39)	I770F	probably benign	Het
Jak3	T	A	8: 72,131,656 (GRCm39)	C115S	probably benign	Het
Kif18b	A	T	11: 102,805,501 (GRCm39)	M252K	probably damaging	Het
Klhdc7a	A	T	4: 139,694,236 (GRCm39)	V237D	probably benign	Het
Klhl11	C	T	11: 100,354,031 (GRCm39)	V597I	possibly damaging	Het
Krt72	T	A	15: 101,689,396 (GRCm39)	Y312F	probably damaging	Het
Lonp2	T	A	8: 87,360,600 (GRCm39)	I191N	probably damaging	Het
Npc2	A	T	12: 84,819,619 (GRCm39)	I8N	possibly damaging	Het
Nr4a1	T	C	15: 101,170,669 (GRCm39)	L413P	probably damaging	Het
Nup133	T	C	8: 124,638,645 (GRCm39)	N895S	probably damaging	Het
Or7e175	T	C	9: 20,048,531 (GRCm39)	F40L	probably benign	Het
Ppef1	A	G	X: 159,468,290 (GRCm39)	I94T	probably benign	Het
Prrt4	G	A	6: 29,176,455 (GRCm39)	T290I	probably benign	Het
Ptpru	A	T	4: 131,499,927 (GRCm39)	V1239E	probably damaging	Het
Rab8b	T	G	9: 66,760,274 (GRCm39)	M117L	probably benign	Het
S1pr5	T	A	9: 21,155,512 (GRCm39)	I305F	possibly damaging	Het
Sdr39u1	A	G	14: 56,135,463 (GRCm39)	V160A	probably damaging	Het
Slc6a21	C	T	7: 44,937,668 (GRCm39)	T653M	probably benign	Het
Stk39	T	A	2: 68,042,302 (GRCm39)	E544D	probably benign	Het
Tgfbr3	T	C	5: 107,290,367 (GRCm39)	T313A	probably benign	Het
Tle6	A	T	10: 81,430,292 (GRCm39)	L287M	probably damaging	Het
Tmc2	A	G	2: 130,105,932 (GRCm39)	H821R	probably benign	Het
Tmem230	G	T	2: 132,087,897 (GRCm39)	D26E	probably benign	Het
Tnfaip3	A	G	10: 18,880,885 (GRCm39)	F394S	probably damaging	Het
Ttn	T	A	2: 76,641,721 (GRCm39)	L13458F	probably damaging	Het
Vwa5a	A	T	9: 38,634,675 (GRCm39)	N161I	probably benign	Het
Wdr87-ps	C	A	7: 29,236,888 (GRCm39)		noncoding transcript	Het

Other mutations in Folr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
Frontier	UTSW	7	101,489,881 (GRCm39)	missense	probably damaging	0.97
R4214:Folr2	UTSW	7	101,492,906 (GRCm39)	missense	probably damaging	0.96
R4410:Folr2	UTSW	7	101,489,881 (GRCm39)	missense	probably damaging	0.97
R4755:Folr2	UTSW	7	101,493,006 (GRCm39)	missense	possibly damaging	0.86
R4944:Folr2	UTSW	7	101,489,497 (GRCm39)	splice site	probably null
R5421:Folr2	UTSW	7	101,489,851 (GRCm39)	missense	probably benign	0.04
R7810:Folr2	UTSW	7	101,490,102 (GRCm39)	missense	possibly damaging	0.89
R8888:Folr2	UTSW	7	101,489,408 (GRCm39)	missense	unknown
R8895:Folr2	UTSW	7	101,489,408 (GRCm39)	missense	unknown
R9713:Folr2	UTSW	7	101,489,809 (GRCm39)	missense	probably benign	0.01

Posted On

2013-04-17