Mutagenetix > Incidental Mutation

Incidental Mutation 'R9713:Folr2'

730314

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9713 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101489195-101506397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101489809 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 153 (D153G)

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

probably benign
Transcript: ENSMUST00000094141
AA Change: D153G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000091692
Gene: ENSMUSG00000032725
AA Change: D153G

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
AA Change: D153G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000210598
AA Change: D153G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000211566

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	T	14: 41,820,060 (GRCm39)	I107F	probably benign	Het
Adam20	G	A	8: 41,248,490 (GRCm39)	R200H	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 8,984,393 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,528,556 (GRCm39)	I277N	probably damaging	Het
Atp11b	A	T	3: 35,885,560 (GRCm39)	Y851F	probably damaging	Het
Cdhr1	A	G	14: 36,801,751 (GRCm39)	S731P	probably damaging	Het
Csf2rb2	A	G	15: 78,176,730 (GRCm39)	S221P	possibly damaging	Het
Dact3	A	T	7: 16,620,292 (GRCm39)	I596F	unknown	Het
Eya4	A	T	10: 23,027,870 (GRCm39)	Y287*	probably null	Het
Gal3st2b	A	T	1: 93,866,409 (GRCm39)	I37L	probably benign	Het
H2ac8	G	A	13: 23,755,041 (GRCm39)	P81L	probably damaging	Het
Hectd1	A	G	12: 51,823,328 (GRCm39)	M1027T	probably benign	Het
Hectd4	A	T	5: 121,448,744 (GRCm39)	Y364F	probably benign	Het
Hsd17b2	A	T	8: 118,485,342 (GRCm39)		probably null	Het
Igkv4-74	A	G	6: 69,161,993 (GRCm39)	Y59H	probably damaging	Het
Ilvbl	T	C	10: 78,412,489 (GRCm39)	V70A	probably benign	Het
Klrh1	A	G	6: 129,752,359 (GRCm39)	V52A	possibly damaging	Het
Ly9	A	C	1: 171,428,756 (GRCm39)	I288S	probably damaging	Het
Muc5b	A	G	7: 141,416,678 (GRCm39)	E3208G	probably benign	Het
Myo1b	G	A	1: 51,818,766 (GRCm39)	T503I	possibly damaging	Het
Ntm	T	A	9: 29,090,327 (GRCm39)	I131F	possibly damaging	Het
Odad1	T	G	7: 45,578,562 (GRCm39)	V45G	probably damaging	Het
Or1p4-ps1	A	G	11: 74,208,078 (GRCm39)	T76A	probably damaging	Het
Or51f23c-ps1	T	C	7: 102,431,633 (GRCm39)	*317Q	probably null	Het
Or52ae7	C	T	7: 103,119,914 (GRCm39)	L223F	possibly damaging	Het
Or5b108	A	T	19: 13,168,727 (GRCm39)	Y232F	probably benign	Het
Or8k38	T	C	2: 86,488,041 (GRCm39)	T254A	possibly damaging	Het
Pbrm1	T	C	14: 30,828,123 (GRCm39)	S1317P	probably damaging	Het
Spaca6	T	A	17: 18,058,498 (GRCm39)	Y39*	probably null	Het
Spen	G	A	4: 141,244,331 (GRCm39)	R235C	unknown	Het
Sycp2l	C	A	13: 41,326,183 (GRCm39)	A746D	probably damaging	Het
Tgm3	A	G	2: 129,867,229 (GRCm39)	E158G	possibly damaging	Het
Trim26	A	T	17: 37,168,307 (GRCm39)	D324V	probably damaging	Het
Ttc9b	T	C	7: 27,353,475 (GRCm39)	S42P	probably benign	Het
Ttn	C	A	2: 76,682,434 (GRCm39)	E952*	probably null	Het
Ulk4	C	A	9: 120,873,862 (GRCm39)	E1190*	probably null	Het
Vmn1r85	A	T	7: 12,818,458 (GRCm39)	S229T	probably damaging	Het
Wwc1	C	A	11: 35,766,576 (GRCm39)	A560S	probably benign	Het
Zfp787	A	G	7: 6,146,059 (GRCm39)		probably null	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
R8888:Folr2	UTSW	7	101,489,408 (GRCm39)	missense	unknown
R8895:Folr2	UTSW	7	101,489,408 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TAGTACTCAAACGTGTGACAGGG -3'
(R):5'- AGTATGGGTGCTTCCTTCAC -3'

Sequencing Primer
(F):5'- CAAACGTGTGACAGGGTGCTG -3'
(R):5'- TCCTTCACATGCTTCAGAAAGG -3'

Posted On

2022-10-06