Incidental Mutation 'IGL02929:Slc52a2'
ID 364004
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc52a2
Ensembl Gene ENSMUSG00000022560
Gene Name solute carrier protein 52, member 2
Synonyms PAR2, Gpr172b, GPCR42, 2010003P03Rik, D15Ertd747e, Rfvt2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02929
Quality Score
Status
Chromosome 15
Chromosomal Location 76423032-76428808 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 76424776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 338 (C338Y)
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: C338Y

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000023220
Gene: ENSMUSG00000022560
AA Change: C338Y

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: 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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330070K13Rik A G 5: 130,413,252 (GRCm39) probably null Het
Abcb5 T C 12: 118,908,674 (GRCm39) Y90C probably damaging Het
Accs T C 2: 93,674,566 (GRCm39) D112G probably damaging Het
Adam32 C A 8: 25,362,659 (GRCm39) V13L possibly damaging Het
Adgrb3 A G 1: 25,592,905 (GRCm39) V294A probably benign Het
Agt G T 8: 125,283,829 (GRCm39) A430E probably benign Het
Agxt2 T C 15: 10,388,379 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,056,116 (GRCm39) I235N probably damaging Het
Atp8b1 T C 18: 64,694,733 (GRCm39) I516M possibly damaging Het
Atrx T C X: 104,923,512 (GRCm39) probably null Het
Brcc3 T C X: 74,479,105 (GRCm39) V117A possibly damaging Het
Casp8ap2 T C 4: 32,624,105 (GRCm39) probably benign Het
Ceacam3 T A 7: 16,892,115 (GRCm39) V286D probably damaging Het
Cpb1 T C 3: 20,329,630 (GRCm39) D32G probably benign Het
Cpsf1 C A 15: 76,486,327 (GRCm39) probably null Het
Dnai4 C T 4: 102,917,188 (GRCm39) W552* probably null Het
Dock2 A T 11: 34,218,048 (GRCm39) V1174E probably damaging Het
Dqx1 A G 6: 83,037,465 (GRCm39) probably benign Het
Ercc1 T C 7: 19,089,288 (GRCm39) probably null Het
Fn1 A G 1: 71,634,821 (GRCm39) probably null Het
Garre1 A T 7: 33,944,507 (GRCm39) M75K possibly damaging Het
Ice1 A G 13: 70,744,322 (GRCm39) L2087P probably damaging Het
Ift122 A G 6: 115,879,838 (GRCm39) D612G probably damaging Het
Igkv6-25 A G 6: 70,192,929 (GRCm39) Y112C probably damaging Het
Kit C A 5: 75,801,429 (GRCm39) P572Q probably damaging Het
Kras A G 6: 145,177,815 (GRCm39) probably benign Het
Ltv1 T C 10: 13,067,970 (GRCm39) K6R possibly damaging Het
Man1a C T 10: 53,801,531 (GRCm39) V443I probably benign Het
Mat2b A C 11: 40,575,540 (GRCm39) D154E probably benign Het
Mtrf1 A G 14: 79,640,273 (GRCm39) K143E probably benign Het
Myh13 A C 11: 67,257,991 (GRCm39) I95L probably damaging Het
Myo7b A T 18: 32,127,978 (GRCm39) D571E probably benign Het
Nek10 T A 14: 14,821,119 (GRCm38) D28E possibly damaging Het
Npm2 T A 14: 70,889,678 (GRCm39) probably null Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Plcb2 G A 2: 118,543,715 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,719,810 (GRCm39) M368T probably benign Het
Rnf123 G T 9: 107,946,275 (GRCm39) T300K probably benign Het
Sbspon A G 1: 15,954,069 (GRCm39) probably benign Het
Tdrd6 T A 17: 43,940,604 (GRCm39) Q148L possibly damaging Het
Tle5 T A 10: 81,400,672 (GRCm39) probably null Het
Trpc3 T A 3: 36,692,623 (GRCm39) K790* probably null Het
Ushbp1 C T 8: 71,847,120 (GRCm39) A171T probably damaging Het
Usp32 T C 11: 84,879,198 (GRCm39) T1504A probably benign Het
Other mutations in Slc52a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1118:Slc52a2 UTSW 15 76,423,808 (GRCm39) unclassified probably benign
R1167:Slc52a2 UTSW 15 76,423,791 (GRCm39) missense probably benign 0.05
R1358:Slc52a2 UTSW 15 76,424,269 (GRCm39) missense probably benign 0.00
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
Posted On 2015-12-18