Incidental Mutation 'IGL02385:Slc7a2'
ID 291488
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 # IGL02385
Quality Score
Status
Chromosome 8
Chromosomal Location 41315404-41375107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 41352048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 37 (V37G)
Ref Sequence ENSEMBL: ENSMUSP00000112848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057784] [ENSMUST00000098816] [ENSMUST00000117077] [ENSMUST00000118432] [ENSMUST00000141505]
AlphaFold P18581
Predicted Effect probably damaging
Transcript: ENSMUST00000057784
AA Change: V20G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: V20G

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 damaging
Transcript: ENSMUST00000098816
AA Change: V20G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: V20G

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 damaging
Transcript: ENSMUST00000117077
AA Change: V20G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: V20G

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 damaging
Transcript: ENSMUST00000118432
AA Change: V37G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: V37G

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
Predicted Effect probably benign
Transcript: ENSMUST00000141505
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,201,630 (GRCm39) D351E probably damaging Het
Adad2 A G 8: 120,341,773 (GRCm39) probably benign Het
Adamts8 A G 9: 30,873,026 (GRCm39) N744D probably benign Het
Atad5 C T 11: 79,985,453 (GRCm39) T180I probably benign Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Bcl9 A T 3: 97,116,594 (GRCm39) I700K probably benign Het
Bcr T C 10: 74,981,235 (GRCm39) S685P probably damaging Het
Cd36 A G 5: 18,019,717 (GRCm39) V128A probably benign Het
Cfap20dc A G 14: 8,510,920 (GRCm38) V498A possibly damaging Het
Chd2 T C 7: 73,085,570 (GRCm39) Y1688C probably damaging Het
Csmd1 A G 8: 15,953,275 (GRCm39) V3402A probably benign Het
Dsg3 T C 18: 20,660,771 (GRCm39) V370A probably damaging Het
Dus4l A G 12: 31,690,674 (GRCm39) probably benign Het
Fcrlb A G 1: 170,735,168 (GRCm39) S320P probably damaging Het
Fer1l4 T C 2: 155,887,348 (GRCm39) D616G probably benign Het
Fxr2 C T 11: 69,543,095 (GRCm39) R631C possibly damaging Het
Gltpd2 T A 11: 70,410,822 (GRCm39) F152I probably damaging Het
Gpt2 T A 8: 86,242,782 (GRCm39) probably null Het
Hsd3b6 A T 3: 98,713,888 (GRCm39) I137K possibly damaging Het
Kcna6 A G 6: 126,715,917 (GRCm39) V324A probably benign Het
Kcnu1 C T 8: 26,422,298 (GRCm39) L188F probably damaging Het
Kdm1b A G 13: 47,221,982 (GRCm39) I474V possibly damaging Het
Kifap3 C T 1: 163,693,013 (GRCm39) Q602* probably null Het
Lrp4 T A 2: 91,305,065 (GRCm39) C231S possibly damaging Het
Lrrc63 T C 14: 75,323,640 (GRCm39) D528G probably benign Het
Nosip C A 7: 44,726,156 (GRCm39) R240S possibly damaging Het
Or11g26 T C 14: 50,752,900 (GRCm39) S80P probably damaging Het
Or4f57 G A 2: 111,790,603 (GRCm39) P272S probably benign Het
Or4k41 A G 2: 111,279,695 (GRCm39) D70G probably damaging Het
Orc5 A T 5: 22,731,438 (GRCm39) D231E probably damaging Het
Poli A T 18: 70,659,645 (GRCm39) M62K possibly damaging Het
Ppp1r13b A C 12: 111,801,477 (GRCm39) S402R probably damaging Het
Prl3b1 T C 13: 27,433,366 (GRCm39) S174P possibly damaging Het
Ptpra T C 2: 130,382,393 (GRCm39) probably benign Het
Sfpq T A 4: 126,919,929 (GRCm39) probably null Het
Sh3bp1 T A 15: 78,790,088 (GRCm39) probably benign Het
Smc1a A T X: 150,820,655 (GRCm39) E794D possibly damaging Het
Sox6 T C 7: 115,149,274 (GRCm39) R366G possibly damaging Het
Spaca7 A G 8: 12,636,498 (GRCm39) N108S possibly damaging Het
Spon1 T G 7: 113,365,567 (GRCm39) M1R probably null Het
Sult6b2 T C 6: 142,747,498 (GRCm39) R84G probably benign Het
Syt2 A G 1: 134,673,553 (GRCm39) N299S probably benign Het
Syvn1 T C 19: 6,098,570 (GRCm39) V104A probably damaging Het
Tbpl1 A G 10: 22,583,568 (GRCm39) L134P probably damaging Het
Tex11 A T X: 99,920,135 (GRCm39) probably benign Het
Tnfrsf21 A G 17: 43,350,942 (GRCm39) S369G probably damaging Het
Tram1l1 T C 3: 124,115,707 (GRCm39) V289A probably benign Het
Ttyh3 A T 5: 140,619,060 (GRCm39) F277L probably benign Het
Vmn2r17 T G 5: 109,582,247 (GRCm39) N545K probably damaging Het
Wdr20 A T 12: 110,759,657 (GRCm39) H181L probably benign Het
Zscan20 A G 4: 128,498,392 (GRCm39) M2T possibly damaging 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
IGL02238:Slc7a2 APN 8 41,361,193 (GRCm39) missense probably benign
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