Incidental Mutation 'G5030:Slc46a2'
ID504
Institutional Source Beutler Lab
Gene Symbol Slc46a2
Ensembl Gene ENSMUSG00000028386
Gene Namesolute carrier family 46, member 2
SynonymsLy110, TSO-1C12, 5430429N04Rik, Tscot
Accession Numbers

Genbank: NM_021053

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #G5030 (G3) of strain 560
Quality Score
Status Validated
Chromosome4
Chromosomal Location59905126-59915056 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59913867 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 352 (I352N)
Ref Sequence ENSEMBL: ENSMUSP00000030081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030081]
Predicted Effect probably damaging
Transcript: ENSMUST00000030081
AA Change: I352N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030081
Gene: ENSMUSG00000028386
AA Change: I352N

DomainStartEndE-ValueType
Pfam:MFS_1 65 424 1.1e-16 PFAM
transmembrane domain 438 460 N/A INTRINSIC
Meta Mutation Damage Score 0.7732 question?
Coding Region Coverage
  • 1x: 81.1%
  • 3x: 60.2%
Het Detection Efficiency35.6%
Validation Efficiency 87% (206/237)
MGI Phenotype PHENOTYPE: About one-third of homozygotes carrying a reporter allele that results in a small deletion within exon 1 display a slight reduction in total thymocyte yield at 6 weeks of age. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(1)

Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T A 11: 110,070,339 I585F probably damaging Het
Adam18 C G 8: 24,651,856 L232F probably benign Homo
Atp13a4 A G 16: 29,455,488 I385T probably damaging Homo
Ccdc17 T A 4: 116,598,502 S277T probably benign Het
Ccng1 A G 11: 40,753,802 probably benign Het
Ces1f T C 8: 93,274,219 D99G probably benign Het
Clec16a G A 16: 10,571,561 R187Q probably damaging Homo
Cryl1 C T 14: 57,342,138 probably benign Het
Cryzl2 C T 1: 157,465,010 Q48* probably null Het
Dtx4 A G 19: 12,469,579 L583P probably benign Het
Ephx4 A T 5: 107,429,827 D339V probably damaging Het
Eri2 A T 7: 119,786,378 V300E possibly damaging Het
F3 T A 3: 121,724,999 N37K probably damaging Homo
Fpr1 A T 17: 17,876,806 L307H probably damaging Het
Fv1 T A 4: 147,869,161 N61K possibly damaging Het
Gm5548 T C 3: 113,054,196 noncoding transcript Homo
Il1r1 A G 1: 40,313,163 K498E possibly damaging Homo
Myh11 T C 16: 14,250,579 I192M probably damaging Homo
Nckap5 T C 1: 126,025,854 K923R probably damaging Het
Nmbr A T 10: 14,767,003 Y102F possibly damaging Het
Olfr790 A G 10: 129,501,537 T218A probably benign Homo
Pde1a C T 2: 79,887,836 probably benign Het
Pex6 T C 17: 46,715,456 probably benign Het
Rtn2 T C 7: 19,293,174 S305P probably damaging Homo
Saal1 G A 7: 46,692,783 T412I probably damaging Homo
Trim37 A T 11: 87,143,141 H99L probably damaging Het
Tubgcp4 C T 2: 121,184,334 R242C probably damaging Het
Twf2 C A 9: 106,206,942 L27I possibly damaging Het
Usp40 A T 1: 87,994,219 H307Q probably damaging Het
Zfhx3 T G 8: 108,951,459 V3047G possibly damaging Het
Other mutations in Slc46a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01466:Slc46a2 APN 4 59911926 nonsense probably null
R0008:Slc46a2 UTSW 4 59914544 missense probably damaging 1.00
R0047:Slc46a2 UTSW 4 59914392 missense probably damaging 1.00
R0047:Slc46a2 UTSW 4 59914392 missense probably damaging 1.00
R1199:Slc46a2 UTSW 4 59914189 missense probably benign 0.17
R1225:Slc46a2 UTSW 4 59914125 missense probably benign 0.01
R1389:Slc46a2 UTSW 4 59914620 missense probably damaging 1.00
R1965:Slc46a2 UTSW 4 59914249 missense probably damaging 1.00
R2334:Slc46a2 UTSW 4 59914150 missense possibly damaging 0.94
R4036:Slc46a2 UTSW 4 59913818 missense probably damaging 1.00
R4230:Slc46a2 UTSW 4 59914048 missense probably benign 0.15
R4600:Slc46a2 UTSW 4 59911886 missense probably damaging 1.00
R5851:Slc46a2 UTSW 4 59913906 missense probably damaging 1.00
R6467:Slc46a2 UTSW 4 59914077 missense probably benign 0.00
R7213:Slc46a2 UTSW 4 59914279 missense possibly damaging 0.71
R7536:Slc46a2 UTSW 4 59914141 nonsense probably null
Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at position 1190 of the Slc46a2 transcript in exon 1 of 4 total exons.  The mutated nucleotide causes an isoleucine to asparagine substitution at amino acid 352 of the encoded protein.  The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

 
Protein Function and Prediction

The Slc46a2 gene encodes a 479 amino acid putative transporter protein that belongs to the major facilitator superfamily. The protein contains 12 transmembrane domains. SLC46A2 is mainly expressed on cortical epithelial cells during fetal thymus development and is highly enriched in SCID thymus. It is also expressed in lymph nodes, heart, fetal liver, brain, spleen, intestine and kidney, but not in adult liver, skin, skeletal muscle and lung (Uniprot Q8CA03).

The I352N change occurs in the ninth transmembrane domain, and is predicted to be probably damaging by the PolyPhen program (see report).
Posted On2010-10-26