Incidental Mutation 'R9423:Slc3a2'
ID 712466
Institutional Source Beutler Lab
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
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9423 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 8684931-8700733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8690189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 201 (K201M)
Ref Sequence ENSEMBL: ENSMUSP00000130194 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010239] [ENSMUST00000170157] [ENSMUST00000205377] [ENSMUST00000205538] [ENSMUST00000206560] [ENSMUST00000206598] [ENSMUST00000206797]
AlphaFold P10852
Predicted Effect probably benign
Transcript: ENSMUST00000010239
AA Change: K162M

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000010239
Gene: ENSMUSG00000010095
AA Change: K162M

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 possibly damaging
Transcript: ENSMUST00000170157
AA Change: K201M

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130194
Gene: ENSMUSG00000010095
AA Change: K201M

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
Predicted Effect probably benign
Transcript: ENSMUST00000205538
Predicted Effect probably benign
Transcript: ENSMUST00000206560
Predicted Effect probably benign
Transcript: ENSMUST00000206598
Predicted Effect probably benign
Transcript: ENSMUST00000206797
AA Change: K162M

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (23/23)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk A G 11: 119,901,520 (GRCm39) S959P probably damaging Het
Abca13 T C 11: 9,240,395 (GRCm39) S753P probably damaging Het
Abcb10 A G 8: 124,688,819 (GRCm39) S486P Het
Adamts19 G T 18: 59,023,427 (GRCm39) R274L possibly damaging Het
Ahcyl1 C T 3: 107,578,476 (GRCm39) E254K probably damaging Het
Ccdc177 T G 12: 80,804,162 (GRCm39) D704A unknown Het
Cd200r3 T C 16: 44,771,895 (GRCm39) V53A probably benign Het
Cdc42bpg T C 19: 6,363,329 (GRCm39) L429P probably damaging Het
Cdh23 T C 10: 60,148,387 (GRCm39) D2660G probably damaging Het
Cfap61 G T 2: 145,985,155 (GRCm39) A1000S probably damaging Het
Col28a1 T C 6: 7,999,601 (GRCm39) T1039A probably benign Het
Ctsd A G 7: 141,939,212 (GRCm39) L71P probably damaging Het
Dab2ip C T 2: 35,599,966 (GRCm39) T251M probably damaging Het
Dcaf8 T A 1: 172,007,524 (GRCm39) I331N probably damaging Het
Dcp2 C T 18: 44,538,361 (GRCm39) R173C probably damaging Het
Dgka C T 10: 128,557,055 (GRCm39) C640Y probably damaging Het
Entrep3 T A 3: 89,092,007 (GRCm39) L155Q probably damaging Het
Gm10801 AAGT AAGTAGT 2: 98,494,148 (GRCm39) probably null Het
Gpr141 T C 13: 19,935,995 (GRCm39) N260S probably benign Het
Htr2a T A 14: 74,943,516 (GRCm39) F365L probably damaging Het
Kdm5b T C 1: 134,515,705 (GRCm39) Y110H possibly damaging Het
Ktn1 A G 14: 47,912,318 (GRCm39) T362A probably benign Het
Ltbp1 G A 17: 75,597,112 (GRCm39) S581N probably benign Het
Nr1h4 C A 10: 89,309,688 (GRCm39) R347L possibly damaging Het
Or4f60 A T 2: 111,902,808 (GRCm39) M40K possibly damaging Het
Or8g26 G T 9: 39,095,838 (GRCm39) M118I probably damaging Het
Parg T G 14: 31,939,662 (GRCm39) F563V probably damaging Het
Pfkfb3 T C 2: 11,487,276 (GRCm39) Y378C probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Pitpnm2 A C 5: 124,271,469 (GRCm39) L368R probably benign Het
Pkd1l3 A G 8: 110,350,312 (GRCm39) T386A possibly damaging Het
Plch2 C A 4: 155,071,049 (GRCm39) C1110F Het
Poc5 T C 13: 96,547,114 (GRCm39) V459A probably damaging Het
Pou4f3 T C 18: 42,528,959 (GRCm39) S301P probably damaging Het
Rpf2 T C 10: 40,101,336 (GRCm39) D233G possibly damaging Het
Rsf1 G GACGGCGGCT 7: 97,229,116 (GRCm39) probably benign Het
Samd4b A G 7: 28,113,633 (GRCm39) Y111H probably benign Het
Serpinb10 C T 1: 107,466,179 (GRCm39) T55M probably benign Het
Serpinb1a C T 13: 33,026,910 (GRCm39) C344Y probably benign Het
Shprh T C 10: 11,081,007 (GRCm39) V1524A probably damaging Het
Sirt1 T C 10: 63,158,025 (GRCm39) H463R probably damaging Het
Skor2 T A 18: 76,948,300 (GRCm39) L674Q probably damaging Het
Spata31h1 C A 10: 82,123,459 (GRCm39) V3184L possibly damaging Het
Stam C A 2: 14,146,564 (GRCm39) Q421K possibly damaging Het
Steap4 G A 5: 8,026,720 (GRCm39) V228M probably damaging Het
Tacr3 A G 3: 134,638,043 (GRCm39) Y400C probably benign Het
Tecpr1 A G 5: 144,155,396 (GRCm39) V54A probably damaging Het
Tgm3 A T 2: 129,880,527 (GRCm39) E444D probably benign Het
Trim30a A T 7: 104,078,410 (GRCm39) L222Q probably damaging Het
Trmt1l T C 1: 151,325,817 (GRCm39) Y421H possibly damaging Het
Usp24 T C 4: 106,288,867 (GRCm39) F2500L probably damaging Het
Vmn2r54 T A 7: 12,349,441 (GRCm39) S714C probably damaging Het
Washc5 A G 15: 59,227,735 (GRCm39) I409T probably benign Het
Zfta T C 19: 7,397,624 (GRCm39) L57P probably damaging Het
Other mutations in Slc3a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Slc3a2 APN 19 8,690,701 (GRCm39) splice site probably null
IGL02541:Slc3a2 APN 19 8,685,123 (GRCm39) nonsense 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
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
Predicted Primers
Posted On 2022-05-16