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)
|
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
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 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
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 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
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 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
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |