Incidental Mutation 'IGL02238:Slc7a2'
ID 285963
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc7a2
Ensembl Gene ENSMUSG00000031596
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
Synonyms Tea, Atrc2, Cat2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02238
Quality Score
Status
Chromosome 8
Chromosomal Location 41315404-41375107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 41361193 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 386 (T386S)
Ref Sequence ENSEMBL: ENSMUSP00000113729 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057784] [ENSMUST00000098816] [ENSMUST00000117077] [ENSMUST00000118432]
AlphaFold P18581
Predicted Effect probably benign
Transcript: ENSMUST00000057784
SMART Domains Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596

DomainStartEndE-ValueType
Pfam:AA_permease_2 34 450 1.4e-55 PFAM
Pfam:AA_permease 38 442 9.7e-38 PFAM
transmembrane domain 492 514 N/A INTRINSIC
transmembrane domain 524 543 N/A INTRINSIC
Pfam:AA_permease_C 555 605 4.2e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098816
AA Change: T386S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: T386S

DomainStartEndE-ValueType
Pfam:AA_permease_2 34 451 8.9e-54 PFAM
Pfam:AA_permease 38 443 5.8e-35 PFAM
transmembrane domain 493 515 N/A INTRINSIC
transmembrane domain 525 544 N/A INTRINSIC
Pfam:AA_permease_C 556 606 4.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117077
AA Change: T386S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: T386S

DomainStartEndE-ValueType
Pfam:AA_permease_2 34 454 2e-52 PFAM
Pfam:AA_permease 38 440 4.8e-33 PFAM
transmembrane domain 493 515 N/A INTRINSIC
transmembrane domain 525 544 N/A INTRINSIC
Pfam:AA_permease_C 556 606 3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118432
SMART Domains Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:AA_permease_2 51 469 5.1e-54 PFAM
Pfam:AA_permease 55 456 5.1e-36 PFAM
transmembrane domain 509 531 N/A INTRINSIC
transmembrane domain 541 560 N/A INTRINSIC
Pfam:AA_permease_C 572 622 2.5e-28 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 cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygotes for a targeted null allele exhibit a marked reduction of nitric oxide production by cytokine-activated macrophages. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 119,995,829 (GRCm39) I1322N probably benign Het
Adamts1 A T 16: 85,592,713 (GRCm39) M565K probably benign Het
Akr1b7 T A 6: 34,392,333 (GRCm39) Y49N probably damaging Het
Cacna2d2 T A 9: 107,390,757 (GRCm39) V363E probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh10 C T 15: 19,013,605 (GRCm39) T735I probably damaging Het
Cds1 T A 5: 101,962,302 (GRCm39) C306S possibly damaging Het
Cfap251 T C 5: 123,440,486 (GRCm39) Y1091H probably damaging Het
Clasp2 T C 9: 113,709,088 (GRCm39) C644R probably damaging Het
Coil T C 11: 88,872,580 (GRCm39) S314P probably benign Het
D630045J12Rik T A 6: 38,173,329 (GRCm39) M280L probably benign Het
Dmxl2 C T 9: 54,352,717 (GRCm39) V795M probably damaging Het
Dock10 A G 1: 80,511,510 (GRCm39) V1533A probably damaging Het
Fbxo40 T C 16: 36,789,536 (GRCm39) N525D possibly damaging Het
Fezf2 T C 14: 12,344,494 (GRCm38) E231G probably damaging Het
Fmn1 T C 2: 113,412,470 (GRCm39) V870A possibly damaging Het
Ifi44 A G 3: 151,438,019 (GRCm39) *423Q probably null Het
Invs T C 4: 48,390,029 (GRCm39) V173A probably damaging Het
Krt88 A G 15: 101,350,486 (GRCm39) probably benign Het
Mctp2 A T 7: 71,739,953 (GRCm39) Y812* probably null Het
Neto2 T C 8: 86,396,292 (GRCm39) I118V probably damaging Het
Nutm2 T G 13: 50,625,075 (GRCm39) M264R probably damaging Het
Or2d2 A G 7: 106,728,244 (GRCm39) S119P probably damaging Het
Or8u8 T C 2: 86,011,939 (GRCm39) probably null Het
Pcnx1 G A 12: 81,964,688 (GRCm39) R285Q probably damaging Het
Pi16 G T 17: 29,545,269 (GRCm39) K177N probably damaging Het
Pigg C T 5: 108,466,794 (GRCm39) S225F possibly damaging Het
Prrc2b T A 2: 32,103,429 (GRCm39) V969E probably damaging Het
Rab4b A C 7: 26,872,154 (GRCm39) Y189D probably benign Het
Ran A G 5: 129,099,246 (GRCm39) N143D possibly damaging Het
Rfc4 A T 16: 22,933,219 (GRCm39) F286L probably damaging Het
Sel1l2 T C 2: 140,089,859 (GRCm39) Y418C probably damaging Het
Slc13a1 T C 6: 24,103,482 (GRCm39) I354V probably benign Het
Tm2d2 G T 8: 25,512,787 (GRCm39) V212F probably benign Het
Tmem247 A T 17: 87,225,721 (GRCm39) N54Y probably damaging Het
Txnrd3 T A 6: 89,633,117 (GRCm39) Y206N probably benign Het
Uba5 T C 9: 103,931,259 (GRCm39) probably benign Het
Vmn2r54 A G 7: 12,369,910 (GRCm39) L51P probably damaging Het
Zfp735 A G 11: 73,601,319 (GRCm39) K88E probably benign Het
Other mutations in Slc7a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Slc7a2 APN 8 41,358,659 (GRCm39) missense possibly damaging 0.57
IGL00948:Slc7a2 APN 8 41,365,561 (GRCm39) missense probably benign 0.04
IGL01565:Slc7a2 APN 8 41,352,275 (GRCm39) missense possibly damaging 0.94
IGL01590:Slc7a2 APN 8 41,367,137 (GRCm39) missense probably damaging 1.00
IGL01939:Slc7a2 APN 8 41,367,120 (GRCm39) missense possibly damaging 0.93
IGL02043:Slc7a2 APN 8 41,364,095 (GRCm39) missense probably benign 0.35
IGL02101:Slc7a2 APN 8 41,355,631 (GRCm39) missense probably benign 0.07
IGL02385:Slc7a2 APN 8 41,352,048 (GRCm39) missense probably damaging 0.98
IGL02562:Slc7a2 APN 8 41,368,057 (GRCm39) missense probably damaging 1.00
IGL02962:Slc7a2 APN 8 41,358,621 (GRCm39) missense probably damaging 0.98
IGL03268:Slc7a2 APN 8 41,365,554 (GRCm39) missense probably benign 0.00
IGL03285:Slc7a2 APN 8 41,368,030 (GRCm39) missense possibly damaging 0.50
IGL03345:Slc7a2 APN 8 41,369,530 (GRCm39) missense probably benign 0.25
IGL03375:Slc7a2 APN 8 41,369,410 (GRCm39) missense probably damaging 1.00
R0014:Slc7a2 UTSW 8 41,364,065 (GRCm39) missense probably damaging 1.00
R0014:Slc7a2 UTSW 8 41,364,065 (GRCm39) missense probably damaging 1.00
R0437:Slc7a2 UTSW 8 41,357,563 (GRCm39) missense probably damaging 1.00
R0624:Slc7a2 UTSW 8 41,361,568 (GRCm39) missense probably benign 0.34
R1406:Slc7a2 UTSW 8 41,358,622 (GRCm39) missense probably damaging 1.00
R1406:Slc7a2 UTSW 8 41,358,622 (GRCm39) missense probably damaging 1.00
R1908:Slc7a2 UTSW 8 41,369,534 (GRCm39) missense probably benign
R1959:Slc7a2 UTSW 8 41,368,002 (GRCm39) missense probably damaging 0.97
R2251:Slc7a2 UTSW 8 41,358,658 (GRCm39) missense probably benign 0.19
R2252:Slc7a2 UTSW 8 41,358,658 (GRCm39) missense probably benign 0.19
R2253:Slc7a2 UTSW 8 41,358,658 (GRCm39) missense probably benign 0.19
R3498:Slc7a2 UTSW 8 41,365,567 (GRCm39) missense probably benign 0.11
R3899:Slc7a2 UTSW 8 41,358,590 (GRCm39) missense possibly damaging 0.93
R4440:Slc7a2 UTSW 8 41,355,686 (GRCm39) missense probably benign
R4785:Slc7a2 UTSW 8 41,364,095 (GRCm39) missense probably benign 0.18
R4788:Slc7a2 UTSW 8 41,367,023 (GRCm39) missense probably benign
R4826:Slc7a2 UTSW 8 41,364,083 (GRCm39) missense probably damaging 1.00
R4996:Slc7a2 UTSW 8 41,365,599 (GRCm39) nonsense probably null
R5249:Slc7a2 UTSW 8 41,361,130 (GRCm39) missense possibly damaging 0.77
R5314:Slc7a2 UTSW 8 41,368,067 (GRCm39) critical splice donor site probably null
R5408:Slc7a2 UTSW 8 41,368,042 (GRCm39) missense probably damaging 1.00
R5537:Slc7a2 UTSW 8 41,367,023 (GRCm39) missense probably benign 0.10
R6116:Slc7a2 UTSW 8 41,353,206 (GRCm39) missense probably damaging 0.98
R7139:Slc7a2 UTSW 8 41,368,050 (GRCm39) missense probably benign 0.01
R7389:Slc7a2 UTSW 8 41,365,552 (GRCm39) missense probably benign
R7451:Slc7a2 UTSW 8 41,365,686 (GRCm39) missense probably damaging 0.99
R7979:Slc7a2 UTSW 8 41,357,541 (GRCm39) missense probably damaging 1.00
R8415:Slc7a2 UTSW 8 41,369,396 (GRCm39) missense probably damaging 1.00
R8673:Slc7a2 UTSW 8 41,365,446 (GRCm39) intron probably benign
R8705:Slc7a2 UTSW 8 41,368,032 (GRCm39) missense probably damaging 1.00
R8770:Slc7a2 UTSW 8 41,352,267 (GRCm39) missense probably damaging 1.00
R8777:Slc7a2 UTSW 8 41,351,991 (GRCm39) missense probably damaging 1.00
R8777-TAIL:Slc7a2 UTSW 8 41,351,991 (GRCm39) missense probably damaging 1.00
R9118:Slc7a2 UTSW 8 41,351,994 (GRCm39) missense possibly damaging 0.49
R9139:Slc7a2 UTSW 8 41,358,709 (GRCm39) missense probably damaging 1.00
R9458:Slc7a2 UTSW 8 41,352,330 (GRCm39) missense probably damaging 1.00
R9776:Slc7a2 UTSW 8 41,358,641 (GRCm39) missense probably damaging 1.00
X0062:Slc7a2 UTSW 8 41,368,000 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16