Incidental Mutation 'IGL02047:Slc38a5'
ID 184955
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc38a5
Ensembl Gene ENSMUSG00000031170
Gene Name solute carrier family 38, member 5
Synonyms SN2, JM24, C81234
Accession Numbers
Essential gene? Not available question?
Stock # IGL02047
Quality Score
Status
Chromosome X
Chromosomal Location 8137620-8146418 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 8139879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 127 (V127L)
Ref Sequence ENSEMBL: ENSMUSP00000111254 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033512] [ENSMUST00000115590] [ENSMUST00000115591] [ENSMUST00000127103]
AlphaFold Q3U1J0
Predicted Effect possibly damaging
Transcript: ENSMUST00000033512
AA Change: V135L

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033512
Gene: ENSMUSG00000031170
AA Change: V135L

DomainStartEndE-ValueType
Pfam:Aa_trans 56 467 8.4e-91 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115590
AA Change: V127L

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111253
Gene: ENSMUSG00000031170
AA Change: V127L

DomainStartEndE-ValueType
Pfam:Aa_trans 48 459 3.7e-90 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115591
AA Change: V127L

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111254
Gene: ENSMUSG00000031170
AA Change: V127L

DomainStartEndE-ValueType
Pfam:Aa_trans 48 459 3.7e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127103
SMART Domains Protein: ENSMUSP00000115713
Gene: ENSMUSG00000031170

DomainStartEndE-ValueType
Pfam:Aa_trans 48 103 3.5e-16 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013]
PHENOTYPE: The gene product plays a role in mediating amino-acid-stimulated pancreatic alpha cell proliferation. Under glucagon receptor (Gcgr) inhibition conditions, homozygous KO reduces alpha cell hyperplasia and causes hypoglycemia and increased plasma glucagon and amino acid levels. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730049H05Rik G T 6: 92,808,909 (GRCm39) probably benign Het
Ank3 A G 10: 69,728,324 (GRCm39) N681S possibly damaging Het
Arpp19 T G 9: 74,964,058 (GRCm39) S137A probably damaging Het
Bmp2 T C 2: 133,402,896 (GRCm39) L149P probably damaging Het
Bpifb1 T C 2: 154,044,536 (GRCm39) M1T probably null Het
Btbd7 T C 12: 102,760,038 (GRCm39) S637G probably benign Het
Cyp51 T A 5: 4,149,244 (GRCm39) H211L possibly damaging Het
Cyth1 C A 11: 118,059,958 (GRCm39) Q333H probably damaging Het
Dennd5a G A 7: 109,533,991 (GRCm39) T67M possibly damaging Het
Dse A T 10: 34,038,841 (GRCm39) Y51* probably null Het
Dynlt3 A T X: 9,522,665 (GRCm39) Y76* probably null Het
Fabp12 T C 3: 10,312,778 (GRCm39) probably benign Het
Galr1 A T 18: 82,424,118 (GRCm39) L53Q probably damaging Het
Igkv4-70 A T 6: 69,244,911 (GRCm39) D103E probably damaging Het
Il2 T C 3: 37,180,000 (GRCm39) N19S probably benign Het
Jhy T C 9: 40,828,476 (GRCm39) I477V probably benign Het
Kcnk4 A G 19: 6,903,626 (GRCm39) S308P probably benign Het
Lipo3 A T 19: 33,534,562 (GRCm39) I299K probably benign Het
Mark3 T A 12: 111,584,797 (GRCm39) I131N probably damaging Het
Msr1 A G 8: 40,077,001 (GRCm39) V137A probably benign Het
Nf1 T A 11: 79,316,361 (GRCm39) V482E probably benign Het
Pcsk1 T C 13: 75,246,108 (GRCm39) V162A probably benign Het
Phf8-ps C T 17: 33,286,275 (GRCm39) V176M probably damaging Het
Plekhb1 A G 7: 100,304,506 (GRCm39) V47A probably damaging Het
R3hcc1l G A 19: 42,552,258 (GRCm39) M418I probably benign Het
Slc24a4 T C 12: 102,220,882 (GRCm39) F438L probably damaging Het
Szt2 A G 4: 118,233,834 (GRCm39) probably benign Het
Tdh A T 14: 63,734,407 (GRCm39) H80Q probably benign Het
Tshz3 A C 7: 36,469,893 (GRCm39) K627N probably damaging Het
Usp28 C T 9: 48,946,941 (GRCm39) P791S probably damaging Het
Wdr81 A G 11: 75,336,332 (GRCm39) Y1686H probably damaging Het
Xpot G T 10: 121,437,267 (GRCm39) probably benign Het
Zfand4 G A 6: 116,291,889 (GRCm39) G627R probably damaging Het
Other mutations in Slc38a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01101:Slc38a5 APN X 8,137,750 (GRCm39) intron probably benign
IGL01410:Slc38a5 APN X 8,146,071 (GRCm39) missense probably benign 0.00
IGL01410:Slc38a5 APN X 8,146,070 (GRCm39) missense probably benign 0.00
X0028:Slc38a5 UTSW X 8,143,075 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07