Incidental Mutation 'IGL02962:Slc7a2'
| ID |
365387 |
| 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 # |
IGL02962
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
41315404-41375107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41358621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 321
(F321L)
|
| 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: F304L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: F304L
| 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: F304L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: F304L
| 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: F304L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: F304L
| 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: F321L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: F321L
| 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 |
|---|
| 1700017N19Rik |
T |
A |
10: 100,446,455 (GRCm39) |
|
probably null |
Het |
| 9530068E07Rik |
T |
C |
11: 52,294,362 (GRCm39) |
V209A |
possibly damaging |
Het |
| Abca3 |
T |
A |
17: 24,619,383 (GRCm39) |
V907E |
probably damaging |
Het |
| Acvrl1 |
T |
C |
15: 101,033,382 (GRCm39) |
Y90H |
probably benign |
Het |
| Aff3 |
T |
C |
1: 38,574,737 (GRCm39) |
D81G |
probably damaging |
Het |
| Amn |
G |
T |
12: 111,240,951 (GRCm39) |
V152L |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,957,987 (GRCm39) |
|
probably benign |
Het |
| Atad5 |
T |
A |
11: 79,999,405 (GRCm39) |
V895D |
possibly damaging |
Het |
| Card9 |
T |
G |
2: 26,248,029 (GRCm39) |
|
probably null |
Het |
| Ccer1 |
T |
C |
10: 97,529,702 (GRCm39) |
S122P |
unknown |
Het |
| Ccr2 |
A |
G |
9: 123,905,712 (GRCm39) |
|
probably benign |
Het |
| Dsg1a |
T |
A |
18: 20,473,381 (GRCm39) |
I818N |
possibly damaging |
Het |
| Ear10 |
G |
T |
14: 44,160,774 (GRCm39) |
L18I |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,619,374 (GRCm39) |
Y544C |
probably damaging |
Het |
| Miga1 |
A |
T |
3: 151,990,978 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,669,061 (GRCm39) |
V307A |
probably damaging |
Het |
| Or5p64 |
A |
T |
7: 107,854,910 (GRCm39) |
I145N |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,773 (GRCm39) |
L33H |
probably damaging |
Het |
| Pou2f3 |
T |
C |
9: 43,036,384 (GRCm39) |
|
probably benign |
Het |
| Pramel23 |
T |
A |
4: 143,423,910 (GRCm39) |
E293V |
probably benign |
Het |
| Prickle2 |
A |
C |
6: 92,353,403 (GRCm39) |
S744A |
probably benign |
Het |
| Prkcb |
T |
A |
7: 122,024,270 (GRCm39) |
|
probably null |
Het |
| Prkd2 |
A |
G |
7: 16,603,757 (GRCm39) |
T813A |
probably benign |
Het |
| Prkra |
G |
A |
2: 76,463,891 (GRCm39) |
T257M |
probably damaging |
Het |
| Rbm18 |
C |
T |
2: 36,012,886 (GRCm39) |
R102Q |
probably damaging |
Het |
| Rbsn |
A |
G |
6: 92,167,307 (GRCm39) |
S446P |
probably benign |
Het |
| Rpgrip1l |
A |
T |
8: 91,996,990 (GRCm39) |
V28D |
possibly damaging |
Het |
| Sdccag8 |
A |
T |
1: 176,775,928 (GRCm39) |
K613I |
probably damaging |
Het |
| Serbp1 |
G |
A |
6: 67,244,103 (GRCm39) |
G8D |
probably damaging |
Het |
| Slc6a2 |
T |
A |
8: 93,699,390 (GRCm39) |
Y139* |
probably null |
Het |
| Slco1b2 |
G |
A |
6: 141,594,279 (GRCm39) |
S48N |
probably damaging |
Het |
| Ssbp2 |
G |
T |
13: 91,790,490 (GRCm39) |
V118L |
possibly damaging |
Het |
| Sugp1 |
T |
A |
8: 70,512,512 (GRCm39) |
|
probably benign |
Het |
| Taar5 |
C |
A |
10: 23,846,883 (GRCm39) |
R94S |
possibly damaging |
Het |
| Tgs1 |
G |
T |
4: 3,586,181 (GRCm39) |
A353S |
probably benign |
Het |
| Trav1 |
A |
G |
14: 52,666,099 (GRCm39) |
E32G |
probably damaging |
Het |
| Trp53bp2 |
T |
C |
1: 182,259,160 (GRCm39) |
V71A |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,784,252 (GRCm39) |
Y74C |
probably damaging |
Het |
| Wars1 |
A |
T |
12: 108,841,706 (GRCm39) |
M147K |
probably 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 |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation