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)
|
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
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: E448G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000096414 Gene: ENSMUSG00000031596 AA Change: E448G
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: E448G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000113729 Gene: ENSMUSG00000031596 AA Change: E448G
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
AA Change: E464G
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000112848 Gene: ENSMUSG00000031596 AA Change: E464G
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: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |