Mutagenetix > Incidental Mutation

Incidental Mutation 'R8888:Folr2'

677483

Institutional Source

Beutler Lab

Gene Symbol

Folr2

Ensembl Gene

ENSMUSG00000032725

Gene Name

folate receptor beta

Synonyms

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

MMRRC Submission

068692-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8888 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

101489195-101506397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101489408 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 244 (V244M)

Ref Sequence

ENSEMBL: ENSMUSP00000091692 (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

unknown
Transcript: ENSMUST00000094141
AA Change: V244M

SMART Domains

Protein: ENSMUSP00000091692
Gene: ENSMUSG00000032725
AA Change: V244M

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

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

unknown
Transcript: ENSMUST00000210598
AA Change: V244M

Predicted Effect

probably benign
Transcript: ENSMUST00000211566

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1a1	A	G	4: 116,498,260 (GRCm39)	L95P	probably damaging	Het
Amigo2	G	T	15: 97,143,389 (GRCm39)	N344K	probably damaging	Het
Ankrd11	T	C	8: 123,621,014 (GRCm39)	D946G	possibly damaging	Het
Ankrd12	T	C	17: 66,338,568 (GRCm39)		probably null	Het
Atp8b5	A	G	4: 43,304,687 (GRCm39)	N66S		Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,835,533 (GRCm39)	S24N	probably null	Het
Bzw2	A	T	12: 36,173,982 (GRCm39)	C97*	probably null	Het
Capn12	T	A	7: 28,585,949 (GRCm39)		probably benign	Het
Cdh1	T	A	8: 107,330,971 (GRCm39)	F34Y	probably damaging	Het
Cdh5	T	C	8: 104,852,092 (GRCm39)	I69T	possibly damaging	Het
Celsr2	G	A	3: 108,320,880 (GRCm39)	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,224,911 (GRCm39)	L226Q	possibly damaging	Het
Clasp2	T	A	9: 113,732,936 (GRCm39)	M924K	possibly damaging	Het
Col3a1	G	A	1: 45,379,139 (GRCm39)	A850T	unknown	Het
Cped1	C	T	6: 22,016,962 (GRCm39)	P104S	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2c69	T	C	19: 39,869,910 (GRCm39)	D104G	possibly damaging	Het
Daw1	T	A	1: 83,187,011 (GRCm39)	C274S	probably damaging	Het
Dmtn	T	C	14: 70,850,144 (GRCm39)	T267A	probably benign	Het
Dock5	A	G	14: 68,055,112 (GRCm39)	Y585H	possibly damaging	Het
Dop1a	A	G	9: 86,403,587 (GRCm39)	I132V	probably benign	Het
Dpysl5	C	T	5: 30,902,687 (GRCm39)	R40C	probably benign	Het
Dsg2	T	G	18: 20,723,126 (GRCm39)	V384G	probably damaging	Het
Elmo1	C	T	13: 20,748,630 (GRCm39)	L492F	probably damaging	Het
Epg5	C	A	18: 78,056,086 (GRCm39)	D1753E	possibly damaging	Het
Ext1	T	C	15: 52,955,723 (GRCm39)	Y458C	probably damaging	Het
Frmd6	C	A	12: 70,940,646 (GRCm39)	H430Q	possibly damaging	Het
Galnt18	T	C	7: 111,378,709 (GRCm39)	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,966,207 (GRCm39)	Y119*	probably null	Het
Gria4	A	G	9: 4,664,951 (GRCm39)	S102P	probably damaging	Het
Hc	A	T	2: 34,890,861 (GRCm39)	N1318K	probably benign	Het
Htr2a	C	T	14: 74,882,617 (GRCm39)	T201I	possibly damaging	Het
Ifitm1	T	C	7: 140,549,499 (GRCm39)	L94P	probably damaging	Het
Iqca1l	T	C	5: 24,755,628 (GRCm39)	D298G	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank4	C	T	4: 98,653,747 (GRCm39)	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,785,100 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Lamb1	A	G	12: 31,352,953 (GRCm39)	T885A	possibly damaging	Het
Ldc1	T	C	4: 130,105,223 (GRCm39)	K316E	probably benign	Het
Lipi	A	T	16: 75,352,710 (GRCm39)	L376I	probably benign	Het
Lrrc37	T	A	11: 103,509,656 (GRCm39)	T771S	unknown	Het
Malrd1	A	T	2: 15,850,038 (GRCm39)	N1219I	unknown	Het
Mrc1	A	C	2: 14,312,760 (GRCm39)	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,793,271 (GRCm39)	A127T	possibly damaging	Het
Naip2	T	C	13: 100,325,644 (GRCm39)	H88R	probably benign	Het
Nek5	C	T	8: 22,580,495 (GRCm39)		probably null	Het
Nlrc5	G	A	8: 95,252,118 (GRCm39)	V1880I	probably benign	Het
Noc3l	T	A	19: 38,798,751 (GRCm39)	K282N	probably damaging	Het
Nwd2	T	C	5: 63,963,241 (GRCm39)	Y942H	probably damaging	Het
Or10ag2	T	C	2: 87,248,659 (GRCm39)	V87A	probably benign	Het
Or4f62	G	A	2: 111,986,974 (GRCm39)	R226H	probably benign	Het
Or52d1	T	A	7: 103,756,302 (GRCm39)	I272N	probably damaging	Het
Osbpl9	C	A	4: 108,930,333 (GRCm39)	A221S	probably benign	Het
Paip1	T	C	13: 119,566,801 (GRCm39)	L45S	probably benign	Het
Pccb	A	T	9: 100,905,305 (GRCm39)		probably benign	Het
Pgap3	A	G	11: 98,281,602 (GRCm39)	F199L	possibly damaging	Het
Pik3c2g	A	T	6: 139,676,092 (GRCm39)	K79*	probably null	Het
Pou3f1	C	G	4: 124,552,152 (GRCm39)	A218G	possibly damaging	Het
Ptk2b	T	A	14: 66,412,242 (GRCm39)	N383I	probably benign	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rdh7	A	T	10: 127,724,430 (GRCm39)	F18Y	probably benign	Het
Scart2	C	T	7: 139,841,532 (GRCm39)	P279S	possibly damaging	Het
Septin5	A	G	16: 18,441,861 (GRCm39)	M315T	possibly damaging	Het
Slc27a6	A	G	18: 58,715,306 (GRCm39)	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,607,293 (GRCm39)	M495L	probably benign	Het
Sntg1	T	A	1: 8,748,074 (GRCm39)		probably null	Het
Spdye4a	T	G	5: 143,211,418 (GRCm39)	S49R	probably benign	Het
Spred2	T	A	11: 19,951,019 (GRCm39)	I72N	probably benign	Het
Stox1	A	T	10: 62,495,386 (GRCm39)	H962Q	probably benign	Het
Susd2	G	T	10: 75,475,452 (GRCm39)	A484D	possibly damaging	Het
Syt14	A	G	1: 192,579,866 (GRCm39)	S473P	probably damaging	Het
Tpx2	T	C	2: 152,724,255 (GRCm39)	Y344H	probably damaging	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Ttf2	A	T	3: 100,870,028 (GRCm39)	F348L	probably benign	Het
Ttn	A	T	2: 76,663,650 (GRCm39)	V11675E	unknown	Het
Usp2	G	T	9: 43,986,894 (GRCm39)	R64L	probably benign	Het

Other mutations in Folr2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Folr2	APN	7	101,489,593 (GRCm39)	missense	probably damaging	0.98
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
R8895:Folr2	UTSW	7	101,489,408 (GRCm39)	missense	unknown
R9713:Folr2	UTSW	7	101,489,809 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGAAAGGATCTGTCCCCAC -3'
(R):5'- GTCACTCCTACAAGGTCAGC -3'

Sequencing Primer
(F):5'- CATTAGGCCCAGATGTGTCATAG -3'
(R):5'- AGGTCAGCAACTACAGCAG -3'

Posted On

2021-08-02