Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Folr2'

426567

Institutional Source

Beutler Lab

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 #

R5421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101489195-101506397 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101489851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 139 (R139H)

Ref Sequence

ENSEMBL: ENSMUSP00000148085 (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: R139H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000091692
Gene: ENSMUSG00000032725
AA Change: R139H

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
AA Change: R139H

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209481

Predicted Effect

probably benign
Transcript: ENSMUST00000210598
AA Change: R139H

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000211566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209861

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211514

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211604

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211428

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,421,876 (GRCm39)	Q882L	probably damaging	Het
Afdn	T	C	17: 14,052,668 (GRCm39)	V525A	probably benign	Het
AI987944	T	C	7: 41,024,200 (GRCm39)	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,363,271 (GRCm39)	S31G	probably damaging	Het
Asxl1	T	C	2: 153,241,504 (GRCm39)	S685P	probably benign	Het
Blnk	C	A	19: 40,956,967 (GRCm39)	V47F	probably damaging	Het
Bmp4	T	A	14: 46,623,355 (GRCm39)	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,909,577 (GRCm39)	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,499,749 (GRCm39)	P645L	probably benign	Het
Cadm2	A	T	16: 66,568,513 (GRCm39)	C248*	probably null	Het
Cdk6	T	C	5: 3,523,120 (GRCm39)	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580 (GRCm39)	R454S	probably damaging	Het
Dennd3	T	C	15: 73,438,964 (GRCm39)	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,996,186 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,326,462 (GRCm39)	T3613I	probably damaging	Het
Elp6	A	G	9: 110,143,132 (GRCm39)	Q115R	probably benign	Het
Enpp1	A	G	10: 24,545,655 (GRCm39)	Y262H	probably damaging	Het
Far2	A	G	6: 148,047,690 (GRCm39)		probably null	Het
Flnb	C	T	14: 7,926,494 (GRCm38)	T1846I	probably damaging	Het
Fxn	A	T	19: 24,254,649 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,747,908 (GRCm39)	N263T	probably damaging	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Htr5a	G	T	5: 28,055,985 (GRCm39)	W325C	possibly damaging	Het
Itga4	T	A	2: 79,146,385 (GRCm39)	Y772*	probably null	Het
Kif12	T	C	4: 63,089,665 (GRCm39)	S59G	probably benign	Het
Kifc3	C	T	8: 95,836,473 (GRCm39)	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,575,406 (GRCm39)	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,428,008 (GRCm39)		probably null	Het
Nek1	A	C	8: 61,459,711 (GRCm39)	R6S	possibly damaging	Het
Or4b13	G	A	2: 90,083,089 (GRCm39)	T81I	probably benign	Het
Or5p68	G	C	7: 107,946,182 (GRCm39)	A2G	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,861 (GRCm39)	R260*	probably null	Het
Palld	C	T	8: 61,969,584 (GRCm39)	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 21,176,968 (GRCm39)	Y169N	probably benign	Het
Rad50	T	C	11: 53,565,773 (GRCm39)	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,509,368 (GRCm39)	K915*	probably null	Het
Rasal2	T	C	1: 157,126,711 (GRCm39)	K109R	probably benign	Het
Rc3h1	G	A	1: 160,779,400 (GRCm39)		probably null	Het
Rnf6	C	T	5: 146,147,339 (GRCm39)	V560I	probably benign	Het
Samd8	A	G	14: 21,842,563 (GRCm39)	D295G	probably damaging	Het
Scart1	T	C	7: 139,803,813 (GRCm39)	L337P	probably damaging	Het
Serpinb2	T	C	1: 107,451,581 (GRCm39)	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc28a3	A	T	13: 58,722,079 (GRCm39)	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,278,346 (GRCm39)	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,579,356 (GRCm39)	T52S	possibly damaging	Het
Spta1	A	G	1: 174,043,095 (GRCm39)	N1414D	probably damaging	Het
Sptbn5	A	G	2: 119,911,261 (GRCm39)		noncoding transcript	Het
Syt9	T	C	7: 107,024,563 (GRCm39)	V152A	probably benign	Het
Thoc2l	A	T	5: 104,666,261 (GRCm39)	N261I	probably benign	Het
Tln1	G	A	4: 43,533,609 (GRCm39)	A2315V	possibly damaging	Het
Tox	C	A	4: 6,842,409 (GRCm39)	M40I	possibly damaging	Het
Ucp1	G	A	8: 84,017,320 (GRCm39)	A37T	probably benign	Het
Vapa	A	G	17: 65,902,031 (GRCm39)	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,803,882 (GRCm39)	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,434,401 (GRCm39)	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,282,805 (GRCm39)	T604A	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Wwc1	C	T	11: 35,801,123 (GRCm39)	E105K	possibly damaging	Het
Wwc1	T	G	11: 35,766,890 (GRCm39)	D455A	possibly damaging	Het
Zfp426	G	A	9: 20,382,015 (GRCm39)	A309V	probably damaging	Het
Zfp626	T	A	7: 27,517,335 (GRCm39)	N105K	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GTACTCAAACGTGTGACAGGG -3'
(R):5'- CAAGTATGGGTGCTTCCTTCAC -3'

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

Posted On

2016-09-01