Incidental Mutation 'R1358:Slc52a2'
ID 156232
Institutional Source Beutler Lab
Gene Symbol Slc52a2
Ensembl Gene ENSMUSG00000022560
Gene Name solute carrier protein 52, member 2
Synonyms PAR2, Gpr172b, GPCR42, 2010003P03Rik, D15Ertd747e, Rfvt2
MMRRC Submission 039423-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1358 (G1)
Quality Score 193
Status Not validated
Chromosome 15
Chromosomal Location 76423032-76428808 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76424269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 169 (R169H)
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

DomainStartEndE-ValueType
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: R169H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023220
Gene: ENSMUSG00000022560
AA Change: R169H

DomainStartEndE-ValueType
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228994
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230513
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230938
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230994
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.1%
  • 10x: 92.2%
  • 20x: 80.4%
Validation Efficiency
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921517D22Rik GCC GC 13: 59,839,412 (GRCm39) probably null Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Hebp2 G T 10: 18,420,163 (GRCm39) T90K possibly damaging Het
Helz2 G A 2: 180,874,774 (GRCm39) R1907C probably damaging Het
Kcnj12 C A 11: 60,960,713 (GRCm39) P235H probably benign Het
Rnase2b G A 14: 51,400,146 (GRCm39) V76I probably damaging Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptb CTT CTTT 12: 76,668,095 (GRCm39) probably null Het
Sptb C T 12: 76,668,100 (GRCm39) G666S probably damaging Het
Vmn2r39 A T 7: 9,026,687 (GRCm39) F438Y possibly damaging Het
Other mutations in Slc52a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02929:Slc52a2 APN 15 76,424,776 (GRCm39) missense probably benign 0.09
R1118:Slc52a2 UTSW 15 76,423,808 (GRCm39) unclassified probably benign
R1167:Slc52a2 UTSW 15 76,423,791 (GRCm39) missense probably benign 0.05
R4683:Slc52a2 UTSW 15 76,424,433 (GRCm39) missense probably damaging 1.00
R5015:Slc52a2 UTSW 15 76,424,751 (GRCm39) missense probably damaging 1.00
R5732:Slc52a2 UTSW 15 76,425,274 (GRCm39) missense probably benign 0.32
R9289:Slc52a2 UTSW 15 76,424,475 (GRCm39) missense probably benign 0.00
R9301:Slc52a2 UTSW 15 76,424,406 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGTCCCCATCCGAGTGGTTCAG -3'
(R):5'- TCTACCCGAAGCCCTGTACCTG -3'

Sequencing Primer
(F):5'- TGGCAGGAAAGCCGTACTC -3'
(R):5'- AAGCCCTGTACCTGTTGTG -3'
Posted On 2014-02-11