Incidental Mutation 'R5408:Slc7a2'
ID 426394
Institutional Source Beutler Lab
Gene Symbol Slc7a2
Ensembl Gene ENSMUSG00000031596
Gene Name solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
Synonyms Tea, Atrc2, Cat2
MMRRC Submission 042977-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5408 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 41315404-41375107 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41368042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 602 (R602K)
Ref Sequence ENSEMBL: ENSMUSP00000112848 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057784] [ENSMUST00000098816] [ENSMUST00000117077] [ENSMUST00000118432]
AlphaFold P18581
Predicted Effect probably damaging
Transcript: ENSMUST00000057784
AA Change: R585K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: R585K

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: R586K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: R586K

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: R586K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: R586K

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: R602K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: R602K

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
Meta Mutation Damage Score 0.5059 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 99% (74/75)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430110L20Rik A G 1: 181,054,979 (GRCm39) noncoding transcript Het
Actn2 T C 13: 12,285,681 (GRCm39) I837V probably benign Het
Adora1 T A 1: 134,130,901 (GRCm39) T257S probably benign Het
Akap9 T A 5: 4,108,458 (GRCm39) M2954K possibly damaging Het
Akr1c13 G T 13: 4,244,715 (GRCm39) A98S probably benign Het
Aldh2 C T 5: 121,708,620 (GRCm39) probably benign Het
Ank1 A G 8: 23,572,209 (GRCm39) N48D probably damaging Het
Ash1l A G 3: 88,889,701 (GRCm39) T527A probably damaging Het
Atp13a1 T C 8: 70,249,490 (GRCm39) V251A probably benign Het
Baz1a A T 12: 54,969,835 (GRCm39) D608E probably damaging Het
Bend5 A T 4: 111,311,280 (GRCm39) probably null Het
Blm T G 7: 80,152,370 (GRCm39) T526P probably benign Het
Cacna1a T C 8: 85,276,336 (GRCm39) V559A probably damaging Het
Cacna2d4 A G 6: 119,325,752 (GRCm39) D1042G probably damaging Het
Cadps T C 14: 12,705,759 (GRCm38) H212R possibly damaging Het
Cdh3 T C 8: 107,263,269 (GRCm39) I106T probably damaging Het
Cenps C A 4: 149,214,658 (GRCm39) probably benign Het
Cfap68 T C 9: 50,676,057 (GRCm39) N87S probably damaging Het
Col16a1 A T 4: 129,986,898 (GRCm39) probably benign Het
Dctn6 C T 8: 34,562,056 (GRCm39) V89I possibly damaging Het
Dgkz C A 2: 91,766,168 (GRCm39) G798W possibly damaging Het
Epb41l2 A T 10: 25,343,992 (GRCm39) probably null Het
Fam171a2 T C 11: 102,328,344 (GRCm39) K805R possibly damaging Het
Fam89b G T 19: 5,779,421 (GRCm39) Y45* probably null Het
Fchsd2 A G 7: 100,920,781 (GRCm39) N462S possibly damaging Het
Fyco1 T G 9: 123,658,568 (GRCm39) H536P probably damaging Het
Galnt12 A T 4: 47,104,169 (GRCm39) E142D probably damaging Het
Gspt1 C T 16: 11,071,719 (GRCm39) G48D probably benign Het
H6pd A G 4: 150,067,322 (GRCm39) S355P probably damaging Het
Hectd2 T C 19: 36,532,296 (GRCm39) V38A possibly damaging Het
Jup C T 11: 100,267,607 (GRCm39) R572Q probably damaging Het
Kcng3 T C 17: 83,938,434 (GRCm39) D205G probably benign Het
Kif13b A T 14: 65,017,138 (GRCm39) probably null Het
Mapk3 A G 7: 126,363,007 (GRCm39) D253G probably damaging Het
Methig1 A T 15: 100,281,635 (GRCm39) Y253F possibly damaging Het
Mmp3 T C 9: 7,449,904 (GRCm39) S263P probably damaging Het
Mpo T A 11: 87,691,851 (GRCm39) probably null Het
Nbeal2 C A 9: 110,466,588 (GRCm39) G772W possibly damaging Het
Nr1d1 T A 11: 98,661,087 (GRCm39) H393L probably benign Het
Obscn A G 11: 58,942,437 (GRCm39) V4915A probably damaging Het
Olfml2b T A 1: 170,472,545 (GRCm39) W19R probably damaging Het
Or13p4 T C 4: 118,547,641 (GRCm39) T3A probably benign Het
Or56b1b C T 7: 108,164,376 (GRCm39) A209T probably damaging Het
Padi6 G A 4: 140,454,996 (GRCm39) T647I probably damaging Het
Pcyox1 A G 6: 86,369,280 (GRCm39) L113S probably damaging Het
Pde4dip T A 3: 97,704,052 (GRCm39) T192S probably benign Het
Pip4k2a T C 2: 18,911,119 (GRCm39) H87R probably benign Het
Pkd1l3 C A 8: 110,393,684 (GRCm39) T2004N probably damaging Het
Prex1 CGTTGTTGTTGT CGTTGTTGTTGTTGT 2: 166,417,573 (GRCm39) probably benign Het
Ptprz1 C T 6: 23,002,599 (GRCm39) T1563I probably damaging Het
Reg3b T C 6: 78,350,215 (GRCm39) V165A probably benign Het
Rreb1 A G 13: 38,115,320 (GRCm39) D893G probably benign Het
Sap18 A T 14: 58,039,431 (GRCm39) M78L probably benign Het
Scaper A T 9: 55,493,508 (GRCm39) F1226I probably damaging Het
Scyl3 A T 1: 163,782,245 (GRCm39) probably null Het
Shoc2 A G 19: 53,976,556 (GRCm39) M149V probably benign Het
Sox30 A G 11: 45,882,694 (GRCm39) I575V possibly damaging Het
Trim14 A T 4: 46,507,134 (GRCm39) C361S possibly damaging Het
Ttn T C 2: 76,731,272 (GRCm39) probably benign Het
Uncx A T 5: 139,530,245 (GRCm39) K108* probably null Het
Usp54 A T 14: 20,600,501 (GRCm39) L1412Q probably damaging Het
Uty A G Y: 1,245,614 (GRCm39) V6A possibly damaging Het
Vmn1r30 C T 6: 58,412,029 (GRCm39) V268I probably benign Het
Wdsub1 T C 2: 59,691,887 (GRCm39) probably benign Het
Wipf3 A G 6: 54,458,896 (GRCm39) I84V probably benign Het
Xcr1 T A 9: 123,685,631 (GRCm39) I44F probably benign Het
Zfp687 T C 3: 94,916,586 (GRCm39) probably benign Het
Zfp729b A T 13: 67,739,563 (GRCm39) S901T probably benign Het
Zhx1 A T 15: 57,915,819 (GRCm39) M809K probably damaging Het
Zswim9 T C 7: 12,994,753 (GRCm39) K468E 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
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
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
Predicted Primers PCR Primer
(F):5'- GACCAGTGAACTCTCAGCTAC -3'
(R):5'- AATGCTGAGATGTTCTTGGAAGTC -3'

Sequencing Primer
(F):5'- CCTACAGAACTGGTGCTTAGTGAC -3'
(R):5'- CTTGGAAGTCGGATTGGAAGG -3'
Posted On 2016-09-01