Incidental Mutation 'R0352:Slc52a3'
ID 29685
Institutional Source Beutler Lab
Gene Symbol Slc52a3
Ensembl Gene ENSMUSG00000027463
Gene Name solute carrier protein family 52, member 3
Synonyms 2310046K01Rik
MMRRC Submission 038558-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0352 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 151838431-151851178 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 151849433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 360 (L360*)
Ref Sequence ENSEMBL: ENSMUSP00000105487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073228] [ENSMUST00000109858] [ENSMUST00000109859] [ENSMUST00000109861]
AlphaFold Q9D6X5
Predicted Effect probably null
Transcript: ENSMUST00000073228
AA Change: L360*
SMART Domains Protein: ENSMUSP00000072961
Gene: ENSMUSG00000027463
AA Change: L360*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 106 128 N/A INTRINSIC
transmembrane domain 141 163 N/A INTRINSIC
transmembrane domain 210 232 N/A INTRINSIC
Pfam:DUF1011 285 386 7.6e-47 PFAM
transmembrane domain 390 412 N/A INTRINSIC
transmembrane domain 419 441 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000109858
SMART Domains Protein: ENSMUSP00000105484
Gene: ENSMUSG00000027463

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 106 128 N/A INTRINSIC
transmembrane domain 135 157 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000109859
SMART Domains Protein: ENSMUSP00000105485
Gene: ENSMUSG00000027463

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 106 128 N/A INTRINSIC
transmembrane domain 135 157 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000109861
AA Change: L360*
SMART Domains Protein: ENSMUSP00000105487
Gene: ENSMUSG00000027463
AA Change: L360*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
transmembrane domain 39 61 N/A INTRINSIC
transmembrane domain 74 96 N/A INTRINSIC
transmembrane domain 106 128 N/A INTRINSIC
transmembrane domain 141 163 N/A INTRINSIC
transmembrane domain 210 232 N/A INTRINSIC
Pfam:DUF1011 288 386 1.1e-42 PFAM
transmembrane domain 390 412 N/A INTRINSIC
transmembrane domain 419 441 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.9%
  • 10x: 95.4%
  • 20x: 90.0%
Validation Efficiency 100% (70/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal placental riboflavin transport and sudden neonatal death associated with hyperlipidemia and hypoglycemia due to riboflavin deficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik C T 12: 71,184,804 (GRCm39) T64M possibly damaging Het
3110040N11Rik G T 7: 81,438,208 (GRCm39) N49K probably benign Het
Adrb1 T A 19: 56,711,293 (GRCm39) F164I probably damaging Het
Aplf C T 6: 87,630,866 (GRCm39) V190I probably benign Het
Aqr A G 2: 114,000,533 (GRCm39) Y50H probably damaging Het
Arfgef3 A C 10: 18,537,135 (GRCm39) I182R probably benign Het
Cacna1b G A 2: 24,515,244 (GRCm39) probably benign Het
Casp9 A G 4: 141,532,841 (GRCm39) T246A probably damaging Het
Clcn6 A G 4: 148,099,063 (GRCm39) S427P probably damaging Het
Cnga1 T C 5: 72,761,846 (GRCm39) N556S possibly damaging Het
Cntnap2 G A 6: 45,969,018 (GRCm39) probably null Het
Col11a2 T G 17: 34,261,501 (GRCm39) V120G probably benign Het
Cux2 A C 5: 122,022,802 (GRCm39) probably benign Het
Dmrt2 T C 19: 25,656,026 (GRCm39) S542P probably damaging Het
Dnah7b A G 1: 46,316,286 (GRCm39) H3133R probably damaging Het
Drosha G A 15: 12,837,374 (GRCm39) R286Q unknown Het
Eipr1 A G 12: 28,816,784 (GRCm39) D47G probably damaging Het
Fras1 T G 5: 96,874,399 (GRCm39) Y2275D probably damaging Het
Grm4 C T 17: 27,670,865 (GRCm39) probably benign Het
Hebp1 A G 6: 135,129,918 (GRCm39) V100A possibly damaging Het
Hivep2 G A 10: 14,019,039 (GRCm39) V1937I possibly damaging Het
Hs3st6 T C 17: 24,977,168 (GRCm39) V216A probably damaging Het
Hsd17b4 T C 18: 50,324,851 (GRCm39) I688T probably benign Het
Hydin T C 8: 111,296,533 (GRCm39) probably null Het
Iws1 A G 18: 32,217,258 (GRCm39) E426G probably damaging Het
Klrb1f T C 6: 129,030,680 (GRCm39) S64P probably damaging Het
Lacc1 C T 14: 77,272,629 (GRCm39) G56R probably damaging Het
Lcmt2 A G 2: 120,969,377 (GRCm39) S569P probably benign Het
Lipm C T 19: 34,090,275 (GRCm39) probably benign Het
Lum A G 10: 97,404,471 (GRCm39) H122R probably damaging Het
Magi2 A G 5: 20,270,664 (GRCm39) Y15C probably damaging Het
Mal A T 2: 127,482,286 (GRCm39) I39N probably damaging Het
Mgme1 A G 2: 144,118,319 (GRCm39) H197R probably benign Het
Mmrn1 A T 6: 60,921,955 (GRCm39) K137N probably benign Het
Myh3 T A 11: 66,981,254 (GRCm39) C706S possibly damaging Het
Myo18b A T 5: 113,022,389 (GRCm39) probably benign Het
Myom1 A G 17: 71,352,744 (GRCm39) E356G possibly damaging Het
Nfib A G 4: 82,422,954 (GRCm39) probably benign Het
Npc1l1 T C 11: 6,173,076 (GRCm39) M788V probably benign Het
Or9a2 C T 6: 41,749,058 (GRCm39) M58I probably damaging Het
Pdha2 A G 3: 140,917,457 (GRCm39) V17A probably benign Het
Pgap1 A T 1: 54,525,617 (GRCm39) probably benign Het
Polr1a G T 6: 71,897,747 (GRCm39) probably benign Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Pramel20 A T 4: 143,297,878 (GRCm39) probably benign Het
Pramel21 A T 4: 143,342,559 (GRCm39) D222V possibly damaging Het
Prmt2 A T 10: 76,044,337 (GRCm39) V405D possibly damaging Het
Psg26 T A 7: 18,209,181 (GRCm39) Y409F probably benign Het
Psme3ip1 A G 8: 95,314,639 (GRCm39) F73S probably damaging Het
Ptges G T 2: 30,793,144 (GRCm39) Y29* probably null Het
Ptrhd1 A G 12: 4,286,399 (GRCm39) T97A probably benign Het
Ripk3 T A 14: 56,024,200 (GRCm39) probably benign Het
Rnf114 A T 2: 167,353,136 (GRCm39) I136F probably benign Het
Serinc5 A G 13: 92,844,497 (GRCm39) probably null Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc23a2 C A 2: 131,902,716 (GRCm39) M495I probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Syt5 A G 7: 4,544,170 (GRCm39) V290A probably benign Het
Szt2 G A 4: 118,239,790 (GRCm39) A1931V unknown Het
Tasp1 A G 2: 139,793,378 (GRCm39) probably null Het
Tcp10a C A 17: 7,593,805 (GRCm39) D43E probably damaging Het
Tnfsf11 A T 14: 78,516,408 (GRCm39) Y187N probably benign Het
Tppp2 T A 14: 52,156,807 (GRCm39) N61K possibly damaging Het
Wwtr1 A T 3: 57,482,548 (GRCm39) W100R probably damaging Het
Zfp623 A G 15: 75,820,433 (GRCm39) D463G probably benign Het
Zfp990 A G 4: 145,263,174 (GRCm39) I57M probably damaging Het
Zmat5 G A 11: 4,672,413 (GRCm39) C10Y probably damaging Het
Other mutations in Slc52a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01391:Slc52a3 APN 2 151,849,522 (GRCm39) missense probably benign 0.41
IGL01511:Slc52a3 APN 2 151,846,564 (GRCm39) missense probably benign 0.00
IGL02058:Slc52a3 APN 2 151,847,811 (GRCm39) missense probably damaging 1.00
IGL02271:Slc52a3 APN 2 151,847,448 (GRCm39) splice site probably benign
R0238:Slc52a3 UTSW 2 151,850,076 (GRCm39) makesense probably null
R0238:Slc52a3 UTSW 2 151,850,076 (GRCm39) makesense probably null
R0239:Slc52a3 UTSW 2 151,850,076 (GRCm39) makesense probably null
R0239:Slc52a3 UTSW 2 151,850,076 (GRCm39) makesense probably null
R3727:Slc52a3 UTSW 2 151,847,701 (GRCm39) missense probably benign 0.00
R4272:Slc52a3 UTSW 2 151,847,660 (GRCm39) missense possibly damaging 0.87
R4273:Slc52a3 UTSW 2 151,847,660 (GRCm39) missense possibly damaging 0.87
R6267:Slc52a3 UTSW 2 151,849,529 (GRCm39) splice site probably null
R7265:Slc52a3 UTSW 2 151,846,336 (GRCm39) missense possibly damaging 0.78
R7409:Slc52a3 UTSW 2 151,846,086 (GRCm39) missense probably damaging 1.00
R7634:Slc52a3 UTSW 2 151,846,534 (GRCm39) missense possibly damaging 0.49
R8697:Slc52a3 UTSW 2 151,846,396 (GRCm39) missense probably damaging 1.00
R8822:Slc52a3 UTSW 2 151,846,513 (GRCm39) missense probably benign
R9243:Slc52a3 UTSW 2 151,846,512 (GRCm39) missense probably benign
R9443:Slc52a3 UTSW 2 151,846,299 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGCTCCTTCTGGTGGCTTTGAC -3'
(R):5'- GGAGATGAAATGACCCCTGACGAC -3'

Sequencing Primer
(F):5'- TGAAGATATGAGGTCCTTGACACC -3'
(R):5'- GGTCACAGGAGTCATCCTTACAG -3'
Posted On 2013-04-24