Incidental Mutation 'R0145:Slc3a2'
ID 22604
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 038430-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0145 (G1) of strain 722
Quality Score 225
Status Validated (trace)
Chromosome 19
Chromosomal Location 8684931-8700733 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8685437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 188 (S188P)
Ref Sequence ENSEMBL: ENSMUSP00000146016 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010239] [ENSMUST00000170157] [ENSMUST00000205377] [ENSMUST00000206598] [ENSMUST00000206797]
AlphaFold P10852
Predicted Effect probably damaging
Transcript: ENSMUST00000010239
AA Change: S411P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010239
Gene: ENSMUSG00000010095
AA Change: S411P

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 damaging
Transcript: ENSMUST00000170157
AA Change: S450P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130194
Gene: ENSMUSG00000010095
AA Change: S450P

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 damaging
Transcript: ENSMUST00000206598
AA Change: S188P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000206797
Meta Mutation Damage Score 0.7688 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 93.7%
  • 20x: 82.1%
Validation Efficiency 96% (109/113)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,437,783 (GRCm39) E64G probably damaging Het
Actr6 A T 10: 89,564,040 (GRCm39) Y77* probably null Het
Aldoart1 A T 4: 72,769,576 (GRCm39) S411T probably benign Het
Aqp1 C T 6: 55,323,672 (GRCm39) R234C probably damaging Het
Arsb G A 13: 93,998,795 (GRCm39) G368R possibly damaging Het
Asxl3 G A 18: 22,586,662 (GRCm39) A151T probably damaging Het
Bcas3 T C 11: 85,250,436 (GRCm39) probably benign Het
Bmpr2 AACACA AACA 1: 59,906,739 (GRCm39) probably null Het
Bst1 A G 5: 43,976,414 (GRCm39) Y49C probably damaging Het
Btrc T A 19: 45,411,612 (GRCm39) L12Q probably damaging Het
Cd248 T C 19: 5,119,051 (GRCm39) F300L possibly damaging Het
Cdk11b G T 4: 155,726,076 (GRCm39) probably benign Het
Cfap410 T C 10: 77,819,390 (GRCm39) S196P probably benign Het
Cfap44 A T 16: 44,288,735 (GRCm39) D1495V probably damaging Het
Chil3 T A 3: 106,067,794 (GRCm39) I124F probably damaging Het
Cnot2 A T 10: 116,353,273 (GRCm39) S63T possibly damaging Het
Cox8a G T 19: 7,192,783 (GRCm39) H61N probably benign Het
Cpne9 T C 6: 113,277,562 (GRCm39) V427A probably damaging Het
Ctsll3 C A 13: 60,946,409 (GRCm39) G301C probably damaging Het
Cubn T A 2: 13,311,243 (GRCm39) D3094V probably damaging Het
Cyba A T 8: 123,153,977 (GRCm39) M65K possibly damaging Het
Cyp4f39 T A 17: 32,705,934 (GRCm39) S342T possibly damaging Het
Daam2 T C 17: 49,787,806 (GRCm39) I436V probably benign Het
Daglb T C 5: 143,460,363 (GRCm39) probably benign Het
Dnah7b T G 1: 46,262,338 (GRCm39) L2067R probably damaging Het
Ep300 T C 15: 81,500,328 (GRCm39) probably null Het
Esm1 A G 13: 113,353,230 (GRCm39) N171D probably damaging Het
Fbxl2 T C 9: 113,814,393 (GRCm39) E266G probably damaging Het
Ficd G T 5: 113,876,880 (GRCm39) A352S probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Hacd3 A T 9: 64,911,524 (GRCm39) probably benign Het
Kbtbd6 T A 14: 79,690,464 (GRCm39) N386K probably benign Het
Lct T C 1: 128,255,632 (GRCm39) M137V probably benign Het
Lilrb4b T G 10: 51,360,614 (GRCm39) N176K probably benign Het
Macf1 T A 4: 123,281,190 (GRCm39) H4340L probably damaging Het
Mcidas A G 13: 113,130,906 (GRCm39) D77G probably damaging Het
Mmrn1 C A 6: 60,949,994 (GRCm39) Q315K probably damaging Het
Mon2 C A 10: 122,849,417 (GRCm39) L1294F possibly damaging Het
Muc5ac A G 7: 141,349,012 (GRCm39) T483A possibly damaging Het
Nacc1 T C 8: 85,401,504 (GRCm39) probably benign Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Ngef A G 1: 87,468,370 (GRCm39) probably benign Het
Nol8 C T 13: 49,815,923 (GRCm39) A677V possibly damaging Het
Ogfod3 A T 11: 121,085,896 (GRCm39) probably benign Het
Or6c8 A T 10: 128,915,232 (GRCm39) V200E probably damaging Het
Or8i2 A C 2: 86,852,134 (GRCm39) Y251* probably null Het
Parpbp T C 10: 87,928,871 (GRCm39) Y523C possibly damaging Het
Pik3cg C A 12: 32,254,321 (GRCm39) L555F probably benign Het
Pkp3 T G 7: 140,669,676 (GRCm39) probably null Het
Pole G T 5: 110,472,291 (GRCm39) R1518L probably damaging Het
Prkab1 T C 5: 116,156,144 (GRCm39) probably benign Het
Prrc2a T C 17: 35,374,796 (GRCm39) T1285A probably benign Het
Pus1 C A 5: 110,922,720 (GRCm39) V222L probably benign Het
Rab11fip1 A G 8: 27,633,352 (GRCm39) L1118P probably damaging Het
Ranbp2 T A 10: 58,315,868 (GRCm39) I2196N probably damaging Het
Rims3 T C 4: 120,744,223 (GRCm39) L151P probably damaging Het
Rnf130 A G 11: 49,962,046 (GRCm39) D164G possibly damaging Het
Rps6ka2 C A 17: 7,529,585 (GRCm39) L293I probably benign Het
Ruvbl1 A G 6: 88,461,441 (GRCm39) T269A possibly damaging Het
Sema4a A T 3: 88,358,729 (GRCm39) I10N probably damaging Het
Serpinb6e A T 13: 34,025,043 (GRCm39) S83T probably benign Het
Slc12a9 C A 5: 137,313,550 (GRCm39) W803L probably damaging Het
Slc7a13 G A 4: 19,818,782 (GRCm39) probably benign Het
Spart A T 3: 55,035,092 (GRCm39) K493* probably null Het
Spata31e2 A G 1: 26,726,413 (GRCm39) M32T probably benign Het
Sun1 T C 5: 139,227,166 (GRCm39) V574A probably damaging Het
Supt6 A G 11: 78,099,062 (GRCm39) V1603A probably benign Het
Tgm5 A G 2: 120,908,062 (GRCm39) V38A possibly damaging Het
Tm6sf2 T C 8: 70,530,518 (GRCm39) probably benign Het
Tnfaip2 T A 12: 111,412,292 (GRCm39) V231E possibly damaging Het
Tube1 T A 10: 39,021,598 (GRCm39) M281K possibly damaging Het
Tubgcp3 A G 8: 12,707,561 (GRCm39) Y143H probably benign Het
Tyrp1 A G 4: 80,759,015 (GRCm39) Y296C probably damaging Het
Utp4 A G 8: 107,621,301 (GRCm39) N26S probably benign Het
Vgf T A 5: 137,060,336 (GRCm39) probably benign Het
Zfat T C 15: 68,058,948 (GRCm39) K196E possibly damaging Het
Zfp366 G T 13: 99,366,048 (GRCm39) S403I probably damaging Het
Zfp462 G A 4: 55,010,529 (GRCm39) G832R probably damaging Het
Zfp955a T A 17: 33,461,430 (GRCm39) Q234L probably damaging Het
Zup1 T C 10: 33,819,709 (GRCm39) T202A 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
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
Predicted Primers PCR Primer
(F):5'- CAGGCTCAGGTTTTCCAGCTTCAG -3'
(R):5'- AGTCCAGCATCTTTCACATCCCAAG -3'

Sequencing Primer
(F):5'- CTGTCGGTACTAAGCAAAAGTTTAGC -3'
(R):5'- TCTTTCACATCCCAAGACCTGTAAG -3'
Posted On 2013-04-16