Incidental Mutation 'IGL00662:Slc7a2'
ID 14123
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 # IGL00662
Quality Score
Status
Chromosome 8
Chromosomal Location 41315404-41375107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41358659 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 334 (Y334C)
Ref Sequence ENSEMBL: ENSMUSP00000112848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057784] [ENSMUST00000098816] [ENSMUST00000117077] [ENSMUST00000118432]
AlphaFold P18581
Predicted Effect possibly damaging
Transcript: ENSMUST00000057784
AA Change: Y317C

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: Y317C

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 possibly damaging
Transcript: ENSMUST00000098816
AA Change: Y317C

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: Y317C

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 possibly damaging
Transcript: ENSMUST00000117077
AA Change: Y317C

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: Y317C

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 possibly damaging
Transcript: ENSMUST00000118432
AA Change: Y334C

PolyPhen 2 Score 0.566 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: Y334C

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg16l2 T C 7: 100,939,103 (GRCm39) N587S probably benign Het
Bcar3 C T 3: 122,306,585 (GRCm39) A186V probably benign Het
Bcr A T 10: 75,003,932 (GRCm39) probably benign Het
Cd207 A G 6: 83,652,908 (GRCm39) I74T possibly damaging Het
Cenpn T C 8: 117,655,326 (GRCm39) probably null Het
Chuk A T 19: 44,085,649 (GRCm39) F228I possibly damaging Het
Cmss1 T C 16: 57,124,092 (GRCm39) D233G probably damaging Het
Copg1 C T 6: 87,879,352 (GRCm39) T466I possibly damaging Het
Ctsll3 A G 13: 60,946,756 (GRCm39) S288P probably benign Het
Fat3 T A 9: 15,907,723 (GRCm39) I2760F possibly damaging Het
Gpi1 A G 7: 33,915,375 (GRCm39) probably benign Het
Il18rap C T 1: 40,581,081 (GRCm39) R318C probably benign Het
Kcnk9 A G 15: 72,417,924 (GRCm39) S69P probably benign Het
Kctd18 T C 1: 57,995,897 (GRCm39) T127A probably damaging Het
Khk T C 5: 31,087,019 (GRCm39) probably benign Het
Ncapg T A 5: 45,850,502 (GRCm39) S703T possibly damaging Het
Nup98 T A 7: 101,844,194 (GRCm39) N47I probably damaging Het
Rad1 A G 15: 10,490,495 (GRCm39) N154S probably benign Het
Rigi A G 4: 40,220,389 (GRCm39) probably benign Het
Slc35f5 T A 1: 125,515,161 (GRCm39) L438H probably damaging Het
Spata17 T C 1: 186,849,536 (GRCm39) N124S probably benign Het
Tfap2c T C 2: 172,393,438 (GRCm39) Y118H probably damaging Het
Tnpo3 A T 6: 29,565,845 (GRCm39) L503* probably null Het
Utrn C T 10: 12,540,705 (GRCm39) E1907K probably damaging Het
Vav3 T A 3: 109,435,708 (GRCm39) probably benign Het
Vps13a T A 19: 16,681,904 (GRCm39) K1033I probably damaging Het
Zfp202 A G 9: 40,122,339 (GRCm39) N367S probably benign Het
Other mutations in Slc7a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL02238:Slc7a2 APN 8 41,361,193 (GRCm39) missense probably benign
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 2012-12-06