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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |