Incidental Mutation 'R9289:Slc52a2'
ID 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 15
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

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

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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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

Sequencing Primer
Posted On 2022-03-25