Mutagenetix > Incidental Mutation

Incidental Mutation 'R9289:Slc52a2'

704167

Institutional Source

Beutler Lab

Gene Symbol

Slc52a2

Ensembl Gene

ENSMUSG00000022560

Gene Name

solute carrier protein 52, member 2

Synonyms

GPCR42, Gpr172b, D15Ertd747e, 2010003P03Rik, PAR2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9289 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76538832-76544608 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 76540275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 238 (V238L)

Ref Sequence

ENSEMBL: ENSMUSP00000023220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023219] [ENSMUST00000023220]

AlphaFold

Q9D8F3

Predicted Effect

probably benign
Transcript: ENSMUST00000023219

SMART Domains

Protein: ENSMUSP00000023219
Gene: ENSMUSG00000022559

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
low complexity region	58	77	N/A	INTRINSIC
Pfam:F-box	104	154	3.1e-6	PFAM
Pfam:F-box-like	105	155	1.8e-13	PFAM
low complexity region	163	174	N/A	INTRINSIC
SCOP:d1yrga_	184	448	3e-9	SMART
Blast:LRR	211	236	2e-6	BLAST
Blast:LRR	347	373	6e-8	BLAST
Blast:LRR	375	405	7e-9	BLAST
Blast:LRR	432	456	7e-6	BLAST
Blast:LRR	464	488	1e-5	BLAST
Blast:LRR	489	520	7e-13	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000023220
AA Change: V238L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023220
Gene: ENSMUSG00000022560
AA Change: V238L

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	32	43	N/A	INTRINSIC
transmembrane domain	46	68	N/A	INTRINSIC
transmembrane domain	81	103	N/A	INTRINSIC
transmembrane domain	113	135	N/A	INTRINSIC
transmembrane domain	142	164	N/A	INTRINSIC
transmembrane domain	201	223	N/A	INTRINSIC
Pfam:DUF1011	278	376	3e-38	PFAM
transmembrane domain	409	431	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 145,045,523 (GRCm38)	T306I	probably benign	Het
Aurkb	T	C	11: 69,050,349 (GRCm38)	I250T	probably damaging	Het
C1qtnf1	A	G	11: 118,443,846 (GRCm38)	T51A	probably benign	Het
C1rb	G	T	6: 124,575,313 (GRCm38)	R330L	possibly damaging	Het
Cd8b1	G	A	6: 71,329,793 (GRCm38)		probably null	Het
Cep57l1	A	T	10: 41,731,086 (GRCm38)	D160E	probably damaging	Het
Ces1f	C	T	8: 93,265,863 (GRCm38)	S320N	probably benign	Het
Cfap54	A	G	10: 92,821,074 (GRCm38)	S3039P	possibly damaging	Het
Chia1	A	T	3: 106,115,186 (GRCm38)		probably benign	Het
Chka	T	G	19: 3,885,953 (GRCm38)	F220V	possibly damaging	Het
Cmtm2b	A	G	8: 104,322,348 (GRCm38)		probably benign	Het
Dgcr8	C	T	16: 18,280,215 (GRCm38)		probably benign	Het
Dhx30	A	T	9: 110,093,121 (GRCm38)	D164E	probably benign	Het
Dhx30	T	C	9: 110,091,535 (GRCm38)	T304A	possibly damaging	Het
Dip2b	A	T	15: 100,173,271 (GRCm38)	K661I	probably damaging	Het
Dlgap4	G	T	2: 156,704,594 (GRCm38)	R394L	possibly damaging	Het
Dopey2	T	A	16: 93,771,793 (GRCm38)	L1581H	probably damaging	Het
Fam219a	C	A	4: 41,521,942 (GRCm38)	G46V	probably damaging	Het
Fer1l6	G	A	15: 58,618,917 (GRCm38)	V1028M	probably damaging	Het
Glb1	C	A	9: 114,420,490 (GRCm38)	A129E	probably damaging	Het
Gm11492	T	A	11: 87,568,966 (GRCm38)	C513*	probably null	Het
Heatr1	T	C	13: 12,432,727 (GRCm38)	V1767A	probably benign	Het
Ift88	T	A	14: 57,480,742 (GRCm38)	S591T	probably benign	Het
Itgb4	A	G	11: 115,994,361 (GRCm38)	K1023R	probably benign	Het
Mfng	C	A	15: 78,759,257 (GRCm38)	S250I	probably damaging	Het
Mmp9	A	G	2: 164,954,880 (GRCm38)	T723A	probably benign	Het
Mzf1	T	A	7: 13,051,607 (GRCm38)	H299L	probably benign	Het
Naa40	T	C	19: 7,234,120 (GRCm38)	K47E	possibly damaging	Het
Ncdn	A	C	4: 126,750,110 (GRCm38)	F306L	possibly damaging	Het
Notch3	A	G	17: 32,158,280 (GRCm38)	C246R	probably damaging	Het
Npc1l1	A	T	11: 6,218,355 (GRCm38)	Y945*	probably null	Het
Olfr136	A	T	17: 38,335,429 (GRCm38)	T91S	possibly damaging	Het
Olfr1384	C	T	11: 49,513,808 (GRCm38)	P57S	probably damaging	Het
Olfr332	T	A	11: 58,489,919 (GRCm38)	I279L	probably benign	Het
Olfr669	T	C	7: 104,938,609 (GRCm38)	W28R	probably damaging	Het
Pcnx	C	A	12: 81,982,079 (GRCm38)	D1044E		Het
Pgm2l1	T	A	7: 100,270,422 (GRCm38)	I575K	probably damaging	Het
Plat	T	C	8: 22,782,084 (GRCm38)	I553T	probably damaging	Het
Prrc2c	A	G	1: 162,679,561 (GRCm38)	V2513A	probably benign	Het
Qser1	A	T	2: 104,787,248 (GRCm38)	V983E	possibly damaging	Het
Ring1	A	G	17: 34,022,573 (GRCm38)	S190P	possibly damaging	Het
Rnf150	A	G	8: 82,990,353 (GRCm38)	E163G	probably benign	Het
Scgb2b12	T	C	7: 32,326,635 (GRCm38)	H44R	probably benign	Het
Shtn1	T	C	19: 59,009,825 (GRCm38)	K379E	probably damaging	Het
Smg1	T	C	7: 118,145,416 (GRCm38)	H3171R	possibly damaging	Het
Tada3	A	G	6: 113,370,303 (GRCm38)	V342A	possibly damaging	Het
Tbc1d20	T	C	2: 152,311,342 (GRCm38)	V264A	probably damaging	Het
Tmco5	G	A	2: 116,880,264 (GRCm38)	A22T	probably benign	Het
Tmem63b	A	G	17: 45,664,771 (GRCm38)	F549S	probably benign	Het
Trav16d-dv11	T	C	14: 53,047,629 (GRCm38)	F54S	probably benign	Het
Trim7	A	T	11: 48,845,454 (GRCm38)	K5*	probably null	Het
Usp48	G	A	4: 137,613,685 (GRCm38)	G332E	probably benign	Het
Zfp78	T	C	7: 6,378,368 (GRCm38)	I139T	probably benign	Het
Zfp839	T	A	12: 110,868,444 (GRCm38)	V711D	probably benign	Het

Other mutations in Slc52a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02929:Slc52a2	APN	15	76,540,576 (GRCm38)	missense	probably benign	0.09
R1118:Slc52a2	UTSW	15	76,539,608 (GRCm38)	unclassified	probably benign
R1167:Slc52a2	UTSW	15	76,539,591 (GRCm38)	missense	probably benign	0.05
R1358:Slc52a2	UTSW	15	76,540,069 (GRCm38)	missense	probably benign	0.00
R4683:Slc52a2	UTSW	15	76,540,233 (GRCm38)	missense	probably damaging	1.00
R5015:Slc52a2	UTSW	15	76,540,551 (GRCm38)	missense	probably damaging	1.00
R5732:Slc52a2	UTSW	15	76,541,074 (GRCm38)	missense	probably benign	0.32
R9301:Slc52a2	UTSW	15	76,540,206 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACGGTCTTTCTTCCTGGGTCAG -3'
(R):5'- CCATTGGTCAGAGCATTGGTG -3'

Sequencing Primer
(F):5'- TGCATGTGCCTGCCAACAG -3'
(R):5'- AGCATTGGTGATGGCCAGC -3'

Posted On

2022-03-25