Incidental Mutation 'IGL00948:Slc7a2'
ID 28038
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 # IGL00948
Quality Score
Status
Chromosome 8
Chromosomal Location 41315404-41375107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 41365561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 448 (E448G)
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
AA Change: E447G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: E447G

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: E448G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: E448G

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: E448G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: E448G

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
AA Change: E464G

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: E464G

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccl2 A T 11: 81,926,558 (GRCm39) Q24L possibly damaging Het
Cd33 G A 7: 43,178,982 (GRCm39) probably benign Het
Cmya5 T C 13: 93,227,544 (GRCm39) I2515V probably benign Het
Cntnap5b A G 1: 100,069,082 (GRCm39) T101A probably benign Het
Cyp4a12a T A 4: 115,159,159 (GRCm39) M143K probably damaging Het
Ephb4 C A 5: 137,364,921 (GRCm39) S663R probably damaging Het
Gm4847 T C 1: 166,457,907 (GRCm39) D482G probably benign Het
Gskip C A 12: 105,665,103 (GRCm39) N47K probably damaging Het
Kmt2c T C 5: 25,582,159 (GRCm39) Y473C probably benign Het
Lrrc7 T A 3: 157,867,194 (GRCm39) N849I probably damaging Het
Magel2 T A 7: 62,029,070 (GRCm39) V658E unknown Het
Nmral1 C T 16: 4,534,270 (GRCm39) G57E probably damaging Het
Or6c211 A T 10: 129,505,756 (GRCm39) L211I probably damaging Het
Or8b54 C T 9: 38,687,108 (GRCm39) Q186* probably null Het
Padi3 C A 4: 140,516,254 (GRCm39) R542L possibly damaging Het
Plrg1 T C 3: 82,975,426 (GRCm39) V260A probably damaging Het
Prex2 A G 1: 11,240,838 (GRCm39) H982R probably damaging Het
Rbm26 T A 14: 105,387,779 (GRCm39) T448S probably damaging Het
Ryr1 C T 7: 28,719,620 (GRCm39) M4262I possibly damaging Het
Slc41a3 A T 6: 90,622,696 (GRCm39) D441V probably damaging Het
Smtnl2 C A 11: 72,302,067 (GRCm39) probably null Het
Tox3 G A 8: 90,997,062 (GRCm39) P66L probably damaging Het
Vmn1r19 T C 6: 57,382,247 (GRCm39) F267L probably benign Het
Vmn2r12 A G 5: 109,245,541 (GRCm39) S64P possibly damaging Het
Zfp764 T C 7: 127,004,376 (GRCm39) S252G possibly damaging Het
Other mutations in Slc7a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00662:Slc7a2 APN 8 41,358,659 (GRCm39) missense possibly damaging 0.57
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 2013-04-17