Incidental Mutation 'IGL02541:Slc3a2'
ID 298211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc3a2
Ensembl Gene ENSMUSG00000010095
Gene Name solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2
Synonyms Ly-m10, Ly-10, Cd98, Mdu1, 4F2HC, Mgp-2hc
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02541
Quality Score
Status
Chromosome 19
Chromosomal Location 8684931-8700733 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 8685123 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 292 (Y292*)
Ref Sequence ENSEMBL: ENSMUSP00000146016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010239] [ENSMUST00000170157] [ENSMUST00000205377] [ENSMUST00000206598] [ENSMUST00000206797]
AlphaFold P10852
Predicted Effect probably null
Transcript: ENSMUST00000010239
AA Change: Y515*
SMART Domains Protein: ENSMUSP00000010239
Gene: ENSMUSG00000010095
AA Change: Y515*

DomainStartEndE-ValueType
transmembrane domain 76 98 N/A INTRINSIC
Pfam:Alpha-amylase 132 219 8.2e-15 PFAM
low complexity region 286 305 N/A INTRINSIC
low complexity region 343 354 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000170157
AA Change: Y554*
SMART Domains Protein: ENSMUSP00000130194
Gene: ENSMUSG00000010095
AA Change: Y554*

DomainStartEndE-ValueType
Pfam:SLC3A2_N 79 157 9.3e-35 PFAM
Pfam:Alpha-amylase 171 258 1.7e-15 PFAM
low complexity region 325 344 N/A INTRINSIC
low complexity region 382 393 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000205377
Predicted Effect probably benign
Transcript: ENSMUST00000205463
Predicted Effect probably null
Transcript: ENSMUST00000206598
AA Change: Y292*
Predicted Effect probably benign
Transcript: ENSMUST00000206797
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 is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous mutant mice display embryonic lethality. Mice homozygous for a conditional allele activated in the intestinal epithelia exhibit resistance to decreased susceptibility to induced colitis and colitis-associated cancer. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,113,881 (GRCm39) L917F possibly damaging Het
Abca6 A T 11: 110,103,093 (GRCm39) W833R probably damaging Het
Asb15 T A 6: 24,566,265 (GRCm39) V406D probably damaging Het
Bcl9l T C 9: 44,419,066 (GRCm39) V968A probably benign Het
Bend7 T C 2: 4,768,116 (GRCm39) probably null Het
Cadm2 C A 16: 66,679,770 (GRCm39) G21V possibly damaging Het
Cadm2 C A 16: 66,679,771 (GRCm39) probably null Het
Camta1 G A 4: 151,169,112 (GRCm39) T1191I probably benign Het
Cep152 C T 2: 125,447,274 (GRCm39) A425T probably damaging Het
Cep95 C A 11: 106,706,407 (GRCm39) Q554K probably damaging Het
Cgref1 A G 5: 31,091,502 (GRCm39) probably null Het
Clock T A 5: 76,410,519 (GRCm39) probably null Het
Cmc2 A G 8: 117,620,883 (GRCm39) F33L probably benign Het
Cnksr3 A G 10: 7,085,073 (GRCm39) V258A probably damaging Het
Col6a6 G T 9: 105,609,415 (GRCm39) N1624K probably benign Het
Cped1 T C 6: 22,120,988 (GRCm39) I356T probably benign Het
Dpy19l2 C T 9: 24,569,943 (GRCm39) V337I probably benign Het
E2f3 A T 13: 30,100,827 (GRCm39) probably null Het
Eif1ad A G 19: 5,418,445 (GRCm39) probably benign Het
Fam114a2 A T 11: 57,390,627 (GRCm39) D302E probably benign Het
Fign T C 2: 63,809,881 (GRCm39) N463S probably benign Het
Fzr1 T C 10: 81,205,867 (GRCm39) T220A probably damaging Het
Gm14496 G A 2: 181,642,186 (GRCm39) R619Q probably benign Het
Gm9966 T C 7: 95,607,991 (GRCm39) I104T unknown Het
Itgb7 G T 15: 102,131,892 (GRCm39) H230Q probably benign Het
Kif7 T C 7: 79,360,628 (GRCm39) H249R possibly damaging Het
Krtap4-2 T G 11: 99,525,792 (GRCm39) Q20P unknown Het
Mis18bp1 T C 12: 65,208,234 (GRCm39) T160A probably damaging Het
Mrps9 T C 1: 42,901,814 (GRCm39) probably null Het
Mynn T A 3: 30,665,752 (GRCm39) H461Q probably damaging Het
Naa25 A G 5: 121,562,594 (GRCm39) T459A possibly damaging Het
Niban3 A T 8: 72,055,426 (GRCm39) T279S probably benign Het
Notch1 C T 2: 26,358,515 (GRCm39) D1439N probably benign Het
Or2ag2b A G 7: 106,417,809 (GRCm39) E173G probably benign Het
Pals2 A G 6: 50,160,707 (GRCm39) I323V probably benign Het
Pcdhb3 A T 18: 37,435,198 (GRCm39) D388V probably damaging Het
Pold3 C T 7: 99,732,879 (GRCm39) G417S probably damaging Het
Pwwp3a G A 10: 80,064,273 (GRCm39) probably null Het
Rad17 A G 13: 100,769,951 (GRCm39) probably benign Het
Sh3glb1 T C 3: 144,425,801 (GRCm39) D5G probably damaging Het
Shank3 T A 15: 89,385,613 (GRCm39) Y167N probably damaging Het
Slc7a13 T A 4: 19,839,212 (GRCm39) probably benign Het
Snx18 A T 13: 113,731,302 (GRCm39) I564N probably damaging Het
Supt6 G A 11: 78,117,744 (GRCm39) R491C probably damaging Het
Tanc1 G T 2: 59,663,602 (GRCm39) G1120C probably damaging Het
Tnrc6b C A 15: 80,764,032 (GRCm39) D511E probably benign Het
Trio A G 15: 27,845,016 (GRCm39) probably benign Het
Trmt12 T A 15: 58,745,651 (GRCm39) W350R probably benign Het
Ttc1 T C 11: 43,629,648 (GRCm39) T173A probably benign Het
Ttc39d C A 17: 80,523,875 (GRCm39) T178K probably damaging Het
Ufl1 T A 4: 25,250,534 (GRCm39) E693V possibly damaging Het
Vamp2 G T 11: 68,979,977 (GRCm39) E16D unknown Het
Vmn2r-ps158 T A 7: 42,673,092 (GRCm39) probably benign Het
Wdr70 C T 15: 7,913,783 (GRCm39) W622* probably null Het
Zfp28 C T 7: 6,396,479 (GRCm39) Q305* probably null Het
Zfp653 C A 9: 21,967,079 (GRCm39) R602L probably damaging Het
Zzef1 T A 11: 72,763,475 (GRCm39) V1374E probably damaging Het
Other mutations in Slc3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Slc3a2 APN 19 8,690,701 (GRCm39) splice site probably null
Underdeveloped UTSW 19 8,690,996 (GRCm39) missense probably damaging 1.00
R0145:Slc3a2 UTSW 19 8,685,437 (GRCm39) missense probably damaging 1.00
R1015:Slc3a2 UTSW 19 8,685,319 (GRCm39) nonsense probably null
R2135:Slc3a2 UTSW 19 8,685,608 (GRCm39) missense probably benign 0.04
R5406:Slc3a2 UTSW 19 8,685,406 (GRCm39) missense probably damaging 1.00
R5464:Slc3a2 UTSW 19 8,691,008 (GRCm39) missense probably damaging 1.00
R5603:Slc3a2 UTSW 19 8,691,092 (GRCm39) missense probably benign 0.43
R5715:Slc3a2 UTSW 19 8,685,594 (GRCm39) missense probably benign
R5949:Slc3a2 UTSW 19 8,690,759 (GRCm39) missense probably damaging 1.00
R6466:Slc3a2 UTSW 19 8,686,683 (GRCm39) missense probably damaging 1.00
R6594:Slc3a2 UTSW 19 8,685,410 (GRCm39) missense probably damaging 1.00
R6860:Slc3a2 UTSW 19 8,690,996 (GRCm39) missense probably damaging 1.00
R6971:Slc3a2 UTSW 19 8,686,974 (GRCm39) critical splice acceptor site probably null
R7252:Slc3a2 UTSW 19 8,700,521 (GRCm39) start gained probably benign
R7915:Slc3a2 UTSW 19 8,685,182 (GRCm39) missense probably damaging 0.98
R9423:Slc3a2 UTSW 19 8,690,189 (GRCm39) missense possibly damaging 0.80
R9681:Slc3a2 UTSW 19 8,691,226 (GRCm39) intron probably benign
R9689:Slc3a2 UTSW 19 8,686,594 (GRCm39) missense probably damaging 0.97
R9729:Slc3a2 UTSW 19 8,685,370 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16