Incidental Mutation 'R4826:Slc7a2'
| ID |
374152 |
| 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 |
042442-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4826 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41315404-41375107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 41364083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 432
(I432N)
|
| 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: I415N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: I415N
| 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: I416N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: I416N
| 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: I416N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: I416N
| 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: I432N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: I432N
| 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 |
0.9681 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
| Validation Efficiency |
100% (72/72) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,815,470 (GRCm39) |
R239S |
probably damaging |
Het |
| Acin1 |
A |
G |
14: 54,902,074 (GRCm39) |
S573P |
probably damaging |
Het |
| Acta2 |
A |
T |
19: 34,229,223 (GRCm39) |
Y55* |
probably null |
Het |
| Aifm2 |
T |
C |
10: 61,561,768 (GRCm39) |
M38T |
probably benign |
Het |
| Ank2 |
C |
A |
3: 126,749,650 (GRCm39) |
V460L |
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,968,043 (GRCm39) |
S185P |
probably benign |
Het |
| Arsj |
A |
G |
3: 126,232,451 (GRCm39) |
Y399C |
probably damaging |
Het |
| Ciao3 |
A |
G |
17: 25,999,306 (GRCm39) |
H240R |
probably damaging |
Het |
| Clec2d |
T |
C |
6: 129,161,122 (GRCm39) |
V73A |
probably benign |
Het |
| Cntln |
T |
G |
4: 84,923,281 (GRCm39) |
M582R |
probably benign |
Het |
| Cyp4a10 |
C |
T |
4: 115,375,541 (GRCm39) |
P8L |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,067,162 (GRCm39) |
N555D |
probably damaging |
Het |
| Dusp4 |
T |
A |
8: 35,285,671 (GRCm39) |
F311I |
probably damaging |
Het |
| Eif4g3 |
T |
C |
4: 137,905,256 (GRCm39) |
V1245A |
possibly damaging |
Het |
| Ephb3 |
G |
A |
16: 21,033,745 (GRCm39) |
R23H |
possibly damaging |
Het |
| Ext2 |
T |
C |
2: 93,592,975 (GRCm39) |
T410A |
probably benign |
Het |
| Fam193a |
A |
G |
5: 34,593,875 (GRCm39) |
E124G |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,037,106 (GRCm39) |
V3586E |
probably damaging |
Het |
| Frmd4a |
T |
C |
2: 4,606,108 (GRCm39) |
S611P |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,731,752 (GRCm39) |
T956A |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,603,838 (GRCm39) |
T107K |
unknown |
Het |
| Herc6 |
T |
A |
6: 57,624,072 (GRCm39) |
M614K |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,292,706 (GRCm39) |
C4095R |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,891,575 (GRCm39) |
I463T |
possibly damaging |
Het |
| Icam5 |
C |
T |
9: 20,949,099 (GRCm39) |
A817V |
possibly damaging |
Het |
| Igf2r |
A |
T |
17: 12,920,240 (GRCm39) |
D1366E |
probably damaging |
Het |
| Ints7 |
G |
A |
1: 191,344,018 (GRCm39) |
V553I |
probably damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,899,783 (GRCm39) |
I92F |
probably damaging |
Het |
| Itgb1 |
T |
A |
8: 129,446,789 (GRCm39) |
C435S |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,650,615 (GRCm39) |
M216V |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,657,582 (GRCm39) |
V979A |
possibly damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Myh9 |
A |
T |
15: 77,673,146 (GRCm39) |
Y400* |
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,290,501 (GRCm39) |
R1033G |
possibly damaging |
Het |
| Nit1 |
T |
C |
1: 171,173,166 (GRCm39) |
|
probably benign |
Het |
| Nlrp1c-ps |
A |
G |
11: 71,133,343 (GRCm39) |
|
noncoding transcript |
Het |
| Nt5c1a |
T |
C |
4: 123,102,365 (GRCm39) |
V97A |
probably damaging |
Het |
| Or12k5 |
A |
G |
2: 36,895,345 (GRCm39) |
Y94H |
probably damaging |
Het |
| Or13a18 |
T |
A |
7: 140,190,232 (GRCm39) |
M51K |
probably benign |
Het |
| Or1a1b |
A |
G |
11: 74,097,157 (GRCm39) |
M295T |
possibly damaging |
Het |
| Or56a5 |
G |
T |
7: 104,793,175 (GRCm39) |
N108K |
probably damaging |
Het |
| Or9m1 |
T |
A |
2: 87,733,693 (GRCm39) |
D109V |
probably damaging |
Het |
| Pde4a |
T |
A |
9: 21,103,676 (GRCm39) |
|
probably null |
Het |
| Pkn2 |
T |
C |
3: 142,515,270 (GRCm39) |
K640R |
probably damaging |
Het |
| Pla2g6 |
A |
G |
15: 79,192,879 (GRCm39) |
S263P |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 31,742,006 (GRCm39) |
S73P |
possibly damaging |
Het |
| Prr27 |
A |
C |
5: 87,998,825 (GRCm39) |
|
probably benign |
Het |
| Rad54b |
G |
T |
4: 11,599,753 (GRCm39) |
W319L |
probably damaging |
Het |
| Rassf8 |
T |
A |
6: 145,762,276 (GRCm39) |
L349H |
probably damaging |
Het |
| Rmc1 |
G |
T |
18: 12,318,836 (GRCm39) |
|
probably benign |
Het |
| Rnf113a2 |
T |
A |
12: 84,464,388 (GRCm39) |
N93K |
probably benign |
Het |
| Sapcd2 |
C |
T |
2: 25,262,768 (GRCm39) |
A109V |
probably benign |
Het |
| Slamf9 |
C |
A |
1: 172,304,008 (GRCm39) |
H118N |
probably benign |
Het |
| Slc37a1 |
A |
G |
17: 31,541,147 (GRCm39) |
Y213C |
probably damaging |
Het |
| Slc5a1 |
A |
G |
5: 33,316,494 (GRCm39) |
D580G |
probably benign |
Het |
| Tas2r114 |
A |
T |
6: 131,666,800 (GRCm39) |
L76Q |
probably damaging |
Het |
| Tcerg1 |
C |
T |
18: 42,668,180 (GRCm39) |
P391L |
unknown |
Het |
| Tdrd12 |
A |
C |
7: 35,203,582 (GRCm39) |
V314G |
probably benign |
Het |
| Zbtb7b |
A |
G |
3: 89,288,080 (GRCm39) |
L246S |
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 |
|
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 |
|
|
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'- AGGTTGTATGTCCCAGTAAACATC -3'
(R):5'- TTAGCTGAAGGCCAAGTCTG -3'
Sequencing Primer
(F):5'- TATGATGTAACATGATCTGTCATTGG -3'
(R):5'- AAGGCCAAGTCTGCTCCCATATTC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation