Incidental Mutation 'R5715:Slc3a2'
ID 451150
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 043336-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5715 (G1)
Quality Score 186
Status Not validated
Chromosome 19
Chromosomal Location 8684931-8700733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 8685594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 168 (H168Q)
Ref Sequence ENSEMBL: ENSMUSP00000146016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010239] [ENSMUST00000170157] [ENSMUST00000205377] [ENSMUST00000206598] [ENSMUST00000206797]
AlphaFold P10852
Predicted Effect probably benign
Transcript: ENSMUST00000010239
AA Change: H391Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000010239
Gene: ENSMUSG00000010095
AA Change: H391Q

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 benign
Transcript: ENSMUST00000170157
AA Change: H430Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130194
Gene: ENSMUSG00000010095
AA Change: H430Q

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 benign
Transcript: ENSMUST00000206598
AA Change: H168Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206895
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik2 T A 11: 48,910,777 (GRCm39) Y552F probably damaging Het
Asprv1 T A 6: 86,605,596 (GRCm39) D147E probably benign Het
Atg4c G T 4: 99,146,639 (GRCm39) L405F probably damaging Het
Birc6 C T 17: 74,938,615 (GRCm39) L2670F probably damaging Het
Cdc20 T C 4: 118,292,015 (GRCm39) D379G probably damaging Het
Chd6 T C 2: 160,791,798 (GRCm39) M2520V probably benign Het
Clca4b A G 3: 144,619,018 (GRCm39) V707A probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Col12a1 A T 9: 79,523,347 (GRCm39) C2743* probably null Het
Coq6 C A 12: 84,413,681 (GRCm39) D70E probably benign Het
Cspg4 T A 9: 56,798,335 (GRCm39) V1450D possibly damaging Het
Dnah7a A G 1: 53,452,937 (GRCm39) L3847P probably damaging Het
Drd2 T A 9: 49,316,189 (GRCm39) H316Q probably benign Het
Dusp19 T A 2: 80,461,330 (GRCm39) N206K probably benign Het
Fam13c T G 10: 70,370,670 (GRCm39) F270C probably damaging Het
Fam20a T C 11: 109,569,257 (GRCm39) E246G probably damaging Het
Fbxo31 A G 8: 122,305,302 (GRCm39) F65L probably damaging Het
Fshr T A 17: 89,293,824 (GRCm39) probably null Het
Fstl4 T C 11: 52,891,243 (GRCm39) V127A possibly damaging Het
Gdpd4 A T 7: 97,610,804 (GRCm39) I75F probably benign Het
Grm5 C A 7: 87,779,464 (GRCm39) A968E probably benign Het
Gucy2g A C 19: 55,221,587 (GRCm39) F305V possibly damaging Het
Hivep3 T C 4: 119,953,570 (GRCm39) F629L probably benign Het
Hoxb1 A G 11: 96,257,152 (GRCm39) E167G probably benign Het
Hoxd4 T C 2: 74,557,708 (GRCm39) L29P probably damaging Het
Ikbkb A G 8: 23,168,866 (GRCm39) L211P probably damaging Het
Insc T C 7: 114,449,076 (GRCm39) V499A probably benign Het
Irak3 A T 10: 119,978,641 (GRCm39) H511Q possibly damaging Het
Itpripl1 T C 2: 126,983,927 (GRCm39) E65G probably damaging Het
Lurap1l T A 4: 80,871,958 (GRCm39) S150R possibly damaging Het
Mab21l3 C T 3: 101,730,723 (GRCm39) R172Q probably benign Het
Macf1 T C 4: 123,577,807 (GRCm39) D59G probably damaging Het
Mettl21a A T 1: 64,654,314 (GRCm39) S68T probably benign Het
Mlxip T A 5: 123,578,121 (GRCm39) W146R probably damaging Het
Mpp2 T A 11: 101,953,087 (GRCm39) N285I probably damaging Het
Mrgprb4 T C 7: 47,848,787 (GRCm39) N47S probably damaging Het
Msi2 A G 11: 88,276,889 (GRCm39) Y237H probably damaging Het
Muc4 C T 16: 32,570,734 (GRCm39) T598I possibly damaging Het
Musk A T 4: 58,333,663 (GRCm39) I253F probably damaging Het
Myo5b G T 18: 74,875,246 (GRCm39) C1550F possibly damaging Het
Nckap5l T C 15: 99,321,457 (GRCm39) T1137A probably benign Het
Neb T C 2: 52,141,780 (GRCm39) D3009G probably damaging Het
Nxph1 T A 6: 9,247,740 (GRCm39) V237E probably damaging Het
Or52a33 A C 7: 103,289,009 (GRCm39) S113A probably damaging Het
Pla2g12a A G 3: 129,688,591 (GRCm39) K150E probably damaging Het
Potegl T C 2: 23,097,989 (GRCm39) Y56H possibly damaging Het
Pramel30 A G 4: 144,057,870 (GRCm39) D159G possibly damaging Het
Ptpn23 G A 9: 110,216,143 (GRCm39) R1238W probably damaging Het
Pts C T 9: 50,433,578 (GRCm39) G124R probably damaging Het
Rfk A T 19: 17,376,002 (GRCm39) I99F probably benign Het
Rictor A T 15: 6,780,197 (GRCm39) R151* probably null Het
Scn2a T A 2: 65,547,928 (GRCm39) I1040N probably benign Het
Serinc5 A C 13: 92,842,710 (GRCm39) T387P probably damaging Het
Sh3bp5l A G 11: 58,236,841 (GRCm39) Q266R possibly damaging Het
Slc14a2 T C 18: 78,201,551 (GRCm39) Y656C probably damaging Het
Slc26a3 T A 12: 31,498,842 (GRCm39) probably null Het
Smarca2 A T 19: 26,626,522 (GRCm39) I449L probably benign Het
Smarcc1 T C 9: 110,025,435 (GRCm39) V704A possibly damaging Het
Sox13 A G 1: 133,313,921 (GRCm39) probably null Het
Sptbn5 T C 2: 119,902,985 (GRCm39) E7G probably damaging Het
Stard10 A G 7: 100,971,110 (GRCm39) D26G probably damaging Het
Tap1 A T 17: 34,411,868 (GRCm39) R91* probably null Het
Tgfbrap1 A T 1: 43,099,097 (GRCm39) V239D possibly damaging Het
Tmem209 A T 6: 30,497,922 (GRCm39) Y124* probably null Het
Tmprss2 T A 16: 97,370,183 (GRCm39) E327V possibly damaging Het
Ttbk1 T C 17: 46,790,133 (GRCm39) Y104C probably damaging Het
Ttll10 A T 4: 156,129,848 (GRCm39) F154I probably damaging Het
Ubn2 T A 6: 38,438,412 (GRCm39) Y40* probably null Het
Ubr5 A T 15: 38,002,477 (GRCm39) S1519T probably benign Het
Ugt3a1 A C 15: 9,306,430 (GRCm39) D193A probably damaging Het
Upf1 A T 8: 70,805,628 (GRCm39) Y6N probably damaging Het
Vmn2r103 A T 17: 20,015,201 (GRCm39) D447V probably benign Het
Vps39 T C 2: 120,155,717 (GRCm39) N519S possibly damaging Het
Zfp109 T C 7: 23,928,995 (GRCm39) E138G possibly damaging Het
Znrf3 A C 11: 5,236,239 (GRCm39) V157G possibly 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
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
Predicted Primers PCR Primer
(F):5'- TGGAAGTCACCGTGCAACAG -3'
(R):5'- GGCATCATACCTGCAGAACCAG -3'

Sequencing Primer
(F):5'- TGCAACAGAGAGCGCTC -3'
(R):5'- GAATGGACCCACCCTTTT -3'
Posted On 2017-01-03