Incidental Mutation 'R8777-TAIL:Slc7a2'
| ID |
668119 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8777-TAIL
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41315404-41375107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 41351991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 18
(M18R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057784]
[ENSMUST00000098816]
[ENSMUST00000117077]
[ENSMUST00000118432]
[ENSMUST00000141505]
|
| AlphaFold |
P18581 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057784
AA Change: M1R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: M1R
| 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 null
Transcript: ENSMUST00000098816
AA Change: M1R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: M1R
| 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 null
Transcript: ENSMUST00000117077
AA Change: M1R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: M1R
| 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: M18R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: M18R
| 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 null
Transcript: ENSMUST00000141505
AA Change: M1R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 8,989,894 (GRCm39) |
T816S |
probably benign |
Het |
| Aff4 |
G |
A |
11: 53,290,783 (GRCm39) |
S581N |
probably damaging |
Het |
| Aimp2 |
G |
A |
5: 143,839,825 (GRCm39) |
A253V |
probably damaging |
Het |
| Arl6ip4 |
T |
G |
5: 124,254,611 (GRCm39) |
S35A |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,059,869 (GRCm39) |
Y787N |
probably damaging |
Het |
| Btbd8 |
T |
G |
5: 107,658,293 (GRCm39) |
I1621R |
probably damaging |
Het |
| Ccdc169 |
T |
C |
3: 55,058,334 (GRCm39) |
S13P |
probably damaging |
Het |
| Ccdc186 |
G |
A |
19: 56,801,793 (GRCm39) |
S108F |
probably damaging |
Het |
| Ccdc39 |
G |
A |
3: 33,893,282 (GRCm39) |
T101I |
probably benign |
Het |
| Cdh13 |
G |
T |
8: 119,963,706 (GRCm39) |
|
probably null |
Het |
| Clec1b |
A |
T |
6: 129,380,537 (GRCm39) |
E151V |
probably benign |
Het |
| Cplx1 |
T |
A |
5: 108,673,435 (GRCm39) |
|
probably null |
Het |
| Diablo |
T |
A |
5: 123,655,990 (GRCm39) |
I150F |
unknown |
Het |
| Esp31 |
T |
C |
17: 38,955,582 (GRCm39) |
V75A |
probably benign |
Het |
| Gm49336 |
G |
A |
14: 60,466,185 (GRCm39) |
L458F |
probably damaging |
Het |
| Grin3b |
A |
T |
10: 79,808,972 (GRCm39) |
S241C |
possibly damaging |
Het |
| Gxylt2 |
A |
G |
6: 100,727,432 (GRCm39) |
N182S |
probably damaging |
Het |
| Hephl1 |
T |
G |
9: 14,972,090 (GRCm39) |
D950A |
probably benign |
Het |
| Hkdc1 |
A |
G |
10: 62,234,612 (GRCm39) |
I556T |
possibly damaging |
Het |
| Ints4 |
C |
A |
7: 97,134,227 (GRCm39) |
A53D |
probably damaging |
Het |
| Kmt5c |
T |
C |
7: 4,745,712 (GRCm39) |
V124A |
possibly damaging |
Het |
| Lrpprc |
T |
A |
17: 85,058,657 (GRCm39) |
Q734H |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,567,304 (GRCm39) |
T1806A |
unknown |
Het |
| Mcmbp |
A |
T |
7: 128,308,855 (GRCm39) |
F389I |
probably damaging |
Het |
| Mcrs1 |
C |
T |
15: 99,141,237 (GRCm39) |
G422S |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,632,185 (GRCm39) |
H173R |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,747,422 (GRCm39) |
G200S |
probably benign |
Het |
| Myh13 |
A |
T |
11: 67,252,161 (GRCm39) |
Q1423L |
possibly damaging |
Het |
| Myh2 |
A |
G |
11: 67,083,398 (GRCm39) |
R1454G |
possibly damaging |
Het |
| Mylk4 |
C |
T |
13: 32,913,089 (GRCm39) |
V70I |
probably benign |
Het |
| Myof |
A |
G |
19: 37,968,841 (GRCm39) |
V358A |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,324,494 (GRCm39) |
H47L |
probably damaging |
Het |
| Ncor1 |
T |
A |
11: 62,324,492 (GRCm39) |
I48F |
probably benign |
Het |
| Neurog2 |
G |
T |
3: 127,427,742 (GRCm39) |
R122L |
probably damaging |
Het |
| Npdc1 |
T |
A |
2: 25,298,129 (GRCm39) |
L193Q |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,227,234 (GRCm39) |
N290D |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,109,120 (GRCm39) |
M1409T |
probably benign |
Het |
| Oas1h |
T |
C |
5: 121,005,107 (GRCm39) |
L185P |
probably damaging |
Het |
| Or10x4 |
A |
T |
1: 174,218,848 (GRCm39) |
Y71F |
probably damaging |
Het |
| Or2z2 |
C |
T |
11: 58,346,757 (GRCm39) |
W6* |
probably null |
Het |
| Or6c3 |
T |
A |
10: 129,309,374 (GRCm39) |
V271E |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,128,974 (GRCm39) |
N853K |
probably benign |
Het |
| Pcsk4 |
G |
T |
10: 80,159,557 (GRCm39) |
P405Q |
probably benign |
Het |
| Piwil4 |
A |
C |
9: 14,650,685 (GRCm39) |
|
probably null |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,967 (GRCm39) |
Y547H |
probably damaging |
Het |
| Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,266,273 (GRCm39) |
|
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,382,156 (GRCm39) |
L51P |
probably damaging |
Het |
| Rufy2 |
T |
G |
10: 62,833,660 (GRCm39) |
L241V |
possibly damaging |
Het |
| Slc5a5 |
T |
C |
8: 71,343,934 (GRCm39) |
I155V |
possibly damaging |
Het |
| Snapc4 |
A |
G |
2: 26,259,375 (GRCm39) |
S592P |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,550,533 (GRCm39) |
W86R |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,244 (GRCm39) |
N2457S |
probably damaging |
Het |
| Tent4a |
T |
A |
13: 69,658,824 (GRCm39) |
D337V |
probably damaging |
Het |
| Timd4 |
C |
A |
11: 46,706,309 (GRCm39) |
T37N |
possibly damaging |
Het |
| Tmem268 |
T |
A |
4: 63,496,076 (GRCm39) |
N172K |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,773,949 (GRCm39) |
V2855D |
probably benign |
Het |
| Tubb6 |
A |
T |
18: 67,534,598 (GRCm39) |
T166S |
probably damaging |
Het |
| Tufm |
A |
G |
7: 126,088,034 (GRCm39) |
Y179C |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,933,597 (GRCm39) |
N1302D |
probably benign |
Het |
| Ube2r2 |
C |
T |
4: 41,190,715 (GRCm39) |
S203L |
possibly damaging |
Het |
| Vldlr |
G |
T |
19: 27,217,946 (GRCm39) |
V465L |
probably benign |
Het |
| Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
| Vmn2r42 |
A |
G |
7: 8,195,692 (GRCm39) |
F485L |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2021-03-08 |
Incidental Mutation