Incidental Mutation 'R3498:Slc7a2'
ID |
273663 |
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 |
040661-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3498 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
41315404-41375107 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 41365567 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 466
(E466G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112848
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057784]
[ENSMUST00000098816]
[ENSMUST00000117077]
[ENSMUST00000118432]
|
AlphaFold |
P18581 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057784
AA Change: E449G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000058866 Gene: ENSMUSG00000031596 AA Change: E449G
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: E450G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000096414 Gene: ENSMUSG00000031596 AA Change: E450G
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: E450G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000113729 Gene: ENSMUSG00000031596 AA Change: E450G
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: E466G
PolyPhen 2
Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000112848 Gene: ENSMUSG00000031596 AA Change: E466G
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.0%
|
Validation Efficiency |
100% (43/43) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,649,350 (GRCm39) |
F6L |
probably benign |
Het |
Aurkc |
A |
G |
7: 7,003,029 (GRCm39) |
I175V |
probably damaging |
Het |
Azi2 |
A |
G |
9: 117,878,475 (GRCm39) |
D105G |
probably damaging |
Het |
Bcat1 |
A |
G |
6: 144,965,068 (GRCm39) |
V45A |
probably damaging |
Het |
Cass4 |
C |
T |
2: 172,274,478 (GRCm39) |
P753L |
probably damaging |
Het |
Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
Ddx42 |
A |
G |
11: 106,122,019 (GRCm39) |
E178G |
possibly damaging |
Het |
Dmpk |
T |
C |
7: 18,820,306 (GRCm39) |
I101T |
probably damaging |
Het |
Dnah17 |
C |
T |
11: 117,971,675 (GRCm39) |
|
probably benign |
Het |
Fosb |
C |
T |
7: 19,040,557 (GRCm39) |
R161H |
probably damaging |
Het |
Gm6729 |
T |
C |
10: 86,376,582 (GRCm39) |
|
noncoding transcript |
Het |
Gnb1 |
T |
A |
4: 155,639,483 (GRCm39) |
N237K |
possibly damaging |
Het |
Gpr35 |
A |
G |
1: 92,911,113 (GRCm39) |
Y275C |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,480,853 (GRCm39) |
I4441N |
probably damaging |
Het |
Ighe |
G |
A |
12: 113,234,994 (GRCm39) |
Q389* |
probably null |
Het |
Kcnj11 |
T |
C |
7: 45,749,026 (GRCm39) |
D23G |
probably damaging |
Het |
Lats2 |
G |
T |
14: 57,959,923 (GRCm39) |
A191E |
possibly damaging |
Het |
Lyplal1 |
A |
G |
1: 185,820,857 (GRCm39) |
S197P |
possibly damaging |
Het |
Map4 |
G |
T |
9: 109,864,280 (GRCm39) |
V502L |
probably benign |
Het |
Mgat5 |
A |
G |
1: 127,312,571 (GRCm39) |
M237V |
possibly damaging |
Het |
Mindy4 |
A |
G |
6: 55,193,510 (GRCm39) |
R68G |
probably benign |
Het |
Nell1 |
T |
A |
7: 49,907,927 (GRCm39) |
V362E |
possibly damaging |
Het |
Or5m8 |
T |
A |
2: 85,822,774 (GRCm39) |
F204L |
probably benign |
Het |
Or6c66b |
T |
A |
10: 129,376,778 (GRCm39) |
I124N |
probably damaging |
Het |
P4ha2 |
T |
C |
11: 54,010,079 (GRCm39) |
Y279H |
probably benign |
Het |
Pcid2 |
A |
G |
8: 13,150,413 (GRCm39) |
V13A |
possibly damaging |
Het |
Polr2j |
T |
C |
5: 136,151,624 (GRCm39) |
I116T |
probably benign |
Het |
Prdm9 |
A |
G |
17: 15,783,207 (GRCm39) |
|
probably benign |
Het |
Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
Ptprf |
A |
T |
4: 118,082,127 (GRCm39) |
I1037N |
probably damaging |
Het |
Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
Sde2 |
T |
A |
1: 180,685,750 (GRCm39) |
C101S |
probably damaging |
Het |
Sec1 |
T |
C |
7: 45,328,663 (GRCm39) |
H128R |
probably damaging |
Het |
Serpinb6a |
A |
T |
13: 34,102,764 (GRCm39) |
M253K |
probably damaging |
Het |
Slc1a4 |
A |
T |
11: 20,263,973 (GRCm39) |
I248N |
probably damaging |
Het |
Slc22a4 |
T |
G |
11: 53,882,879 (GRCm39) |
K328N |
probably benign |
Het |
Slc24a4 |
A |
T |
12: 102,200,951 (GRCm39) |
K278N |
probably benign |
Het |
Slc6a21 |
T |
A |
7: 44,930,266 (GRCm39) |
W222R |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,444,914 (GRCm39) |
T2133A |
possibly damaging |
Het |
Taco1 |
A |
G |
11: 105,963,364 (GRCm39) |
M172V |
probably benign |
Het |
Tmem127 |
T |
A |
2: 127,098,040 (GRCm39) |
H36Q |
probably benign |
Het |
Tmem229b-ps |
C |
T |
10: 53,351,223 (GRCm39) |
|
noncoding transcript |
Het |
Vac14 |
A |
G |
8: 111,397,722 (GRCm39) |
D479G |
probably benign |
Het |
Vmn1r176 |
T |
A |
7: 23,534,667 (GRCm39) |
K162I |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGTAGCCTGGCTCAGCAC -3'
(R):5'- GTTGGGCCTTTCAACATCTGC -3'
Sequencing Primer
(F):5'- CATTGGAATCATGAGAAGTGTCACCC -3'
(R):5'- TGCTGTCAAGACTTACCCAGG -3'
|
Posted On |
2015-04-02 |