Incidental Mutation 'R8770:Slc7a2'
| ID |
664348 |
| 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 |
068625-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8770 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
41315404-41375107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 41352267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 110
(V110G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112848
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057784]
[ENSMUST00000098816]
[ENSMUST00000117077]
[ENSMUST00000118432]
[ENSMUST00000141505]
|
| AlphaFold |
P18581 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057784
AA Change: V93G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: V93G
| 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: V93G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: V93G
| 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: V93G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: V93G
| 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: V110G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: V110G
| 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 benign
Transcript: ENSMUST00000141505
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
99% (66/67) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afdn |
T |
C |
17: 14,104,199 (GRCm39) |
|
probably null |
Het |
| Aox1 |
A |
T |
1: 58,378,763 (GRCm39) |
K1004M |
probably benign |
Het |
| Atn1 |
C |
T |
6: 124,722,601 (GRCm39) |
|
probably null |
Het |
| Atp8b4 |
T |
C |
2: 126,184,915 (GRCm39) |
Y916C |
probably damaging |
Het |
| Bicd1 |
T |
C |
6: 149,420,448 (GRCm39) |
L766S |
probably damaging |
Het |
| Bmpr2 |
T |
G |
1: 59,884,684 (GRCm39) |
D223E |
probably benign |
Het |
| Bpifc |
T |
G |
10: 85,801,129 (GRCm39) |
R406S |
probably damaging |
Het |
| Ccl6 |
A |
G |
11: 83,479,658 (GRCm39) |
I115T |
possibly damaging |
Het |
| Cdcp1 |
A |
T |
9: 123,006,926 (GRCm39) |
I607N |
possibly damaging |
Het |
| Cdyl2 |
T |
C |
8: 117,321,822 (GRCm39) |
Y235C |
probably damaging |
Het |
| Clns1a |
A |
G |
7: 97,363,117 (GRCm39) |
Q163R |
probably benign |
Het |
| Cntn3 |
T |
A |
6: 102,254,277 (GRCm39) |
M222L |
possibly damaging |
Het |
| Cpn1 |
A |
G |
19: 43,952,208 (GRCm39) |
V358A |
probably damaging |
Het |
| Dchs1 |
G |
A |
7: 105,420,945 (GRCm39) |
R492W |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,311,298 (GRCm39) |
T1808A |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,852,410 (GRCm39) |
I1880V |
possibly damaging |
Het |
| Dnai3 |
T |
C |
3: 145,752,298 (GRCm39) |
T793A |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,456,106 (GRCm39) |
E1274G |
possibly damaging |
Het |
| Dtwd1 |
A |
G |
2: 125,996,727 (GRCm39) |
T71A |
probably damaging |
Het |
| Dusp4 |
T |
A |
8: 35,274,938 (GRCm39) |
M19K |
probably benign |
Het |
| Fbxo39 |
T |
C |
11: 72,209,285 (GRCm39) |
F382L |
probably damaging |
Het |
| Fbxw20 |
A |
T |
9: 109,046,596 (GRCm39) |
C455S |
probably benign |
Het |
| Fcmr |
T |
A |
1: 130,803,799 (GRCm39) |
V201E |
probably benign |
Het |
| Galnt2 |
C |
T |
8: 125,061,025 (GRCm39) |
R306* |
probably null |
Het |
| Gpr156 |
A |
G |
16: 37,824,974 (GRCm39) |
E397G |
possibly damaging |
Het |
| Gzmf |
A |
T |
14: 56,443,951 (GRCm39) |
V73D |
probably damaging |
Het |
| Hrob |
A |
G |
11: 102,145,976 (GRCm39) |
N84S |
probably benign |
Het |
| Laptm4b |
T |
C |
15: 34,258,843 (GRCm39) |
V39A |
possibly damaging |
Het |
| Mlf2 |
C |
A |
6: 124,911,259 (GRCm39) |
H91Q |
probably benign |
Het |
| Mylk3 |
T |
A |
8: 86,091,460 (GRCm39) |
E115V |
probably damaging |
Het |
| Myo6 |
A |
G |
9: 80,171,481 (GRCm39) |
E494G |
unknown |
Het |
| Myo7b |
C |
T |
18: 32,114,124 (GRCm39) |
D1076N |
probably benign |
Het |
| Neurl1b |
A |
G |
17: 26,650,887 (GRCm39) |
D53G |
probably damaging |
Het |
| Noc4l |
A |
G |
5: 110,796,758 (GRCm39) |
L508P |
possibly damaging |
Het |
| Nup210l |
C |
A |
3: 90,025,850 (GRCm39) |
F157L |
probably damaging |
Het |
| Ogdh |
T |
C |
11: 6,305,336 (GRCm39) |
Y959H |
probably damaging |
Het |
| Or13c7d |
T |
G |
4: 43,770,813 (GRCm39) |
N66T |
probably damaging |
Het |
| Or4a73 |
A |
G |
2: 89,421,171 (GRCm39) |
M96T |
probably benign |
Het |
| Pik3ap1 |
A |
G |
19: 41,316,599 (GRCm39) |
Y264H |
possibly damaging |
Het |
| Plb1 |
T |
C |
5: 32,404,853 (GRCm39) |
Y4H |
unknown |
Het |
| Rad21 |
A |
G |
15: 51,831,749 (GRCm39) |
I444T |
probably benign |
Het |
| Recql5 |
T |
C |
11: 115,787,943 (GRCm39) |
I459V |
probably benign |
Het |
| Scaf1 |
T |
C |
7: 44,656,129 (GRCm39) |
T917A |
unknown |
Het |
| Sdc4 |
C |
T |
2: 164,270,822 (GRCm39) |
V146I |
probably damaging |
Het |
| Serpina6 |
T |
C |
12: 103,620,198 (GRCm39) |
S184G |
probably benign |
Het |
| Shkbp1 |
C |
A |
7: 27,051,311 (GRCm39) |
R218S |
possibly damaging |
Het |
| Slc17a3 |
A |
G |
13: 24,039,607 (GRCm39) |
D255G |
|
Het |
| Slf1 |
A |
C |
13: 77,194,766 (GRCm39) |
V853G |
probably damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,029,718 (GRCm39) |
V102A |
probably benign |
Het |
| Sobp |
T |
C |
10: 43,036,788 (GRCm39) |
K50R |
probably damaging |
Het |
| Spink10 |
A |
T |
18: 62,786,532 (GRCm39) |
R47S |
probably benign |
Het |
| Sspo |
T |
A |
6: 48,451,206 (GRCm39) |
F2720Y |
probably null |
Het |
| Tdrkh |
T |
A |
3: 94,336,440 (GRCm39) |
V459D |
probably damaging |
Het |
| Tent5a |
A |
G |
9: 85,208,803 (GRCm39) |
Y7H |
probably benign |
Het |
| Tlcd2 |
T |
A |
11: 75,360,630 (GRCm39) |
D224E |
probably damaging |
Het |
| Tln2 |
T |
A |
9: 67,230,304 (GRCm39) |
Q87L |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,838,186 (GRCm39) |
|
probably benign |
Het |
| Tmem63a |
G |
A |
1: 180,789,961 (GRCm39) |
G378R |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,219,892 (GRCm39) |
Q2210K |
probably benign |
Het |
| Trim24 |
T |
A |
6: 37,934,435 (GRCm39) |
|
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,050,675 (GRCm39) |
I238N |
probably damaging |
Het |
| Vps39 |
A |
T |
2: 120,153,548 (GRCm39) |
D675E |
probably benign |
Het |
| Zfp229 |
T |
A |
17: 21,964,795 (GRCm39) |
C342S |
probably damaging |
Het |
| Zfp759 |
A |
G |
13: 67,288,417 (GRCm39) |
H656R |
probably damaging |
Het |
| Zfp994 |
T |
C |
17: 22,419,980 (GRCm39) |
Y323C |
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 |
|
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 |
|
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'- TCACACTGGACAGCCTTGAAG -3'
(R):5'- AGTGCAGGCTTATCCCTAGAAAC -3'
Sequencing Primer
(F):5'- TGGACAGCCTTGAAGATTCC -3'
(R):5'- GAGATTCCAGCCAGTGAT -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation