Incidental Mutation 'R6116:Slc7a2'
| ID |
485121 |
| 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 |
044265-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6116 (G1)
|
| 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 C
at 41353206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 181
(Y181H)
|
| 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: Y164H
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: Y164H
| 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: Y164H
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: Y164H
| 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: Y164H
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: Y164H
| 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: Y181H
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: Y181H
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
A |
19: 8,990,327 (GRCm39) |
|
probably benign |
Het |
| Apc |
A |
T |
18: 34,449,508 (GRCm39) |
I2101F |
probably damaging |
Het |
| Bpifa3 |
G |
A |
2: 153,975,633 (GRCm39) |
V68I |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,864 (GRCm39) |
I878F |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,605,879 (GRCm39) |
M339K |
probably damaging |
Het |
| Dock3 |
A |
G |
9: 106,809,161 (GRCm39) |
Y1321H |
probably damaging |
Het |
| Dsc1 |
G |
T |
18: 20,230,356 (GRCm39) |
D316E |
probably benign |
Het |
| Eno3 |
C |
T |
11: 70,552,401 (GRCm39) |
T351M |
possibly damaging |
Het |
| Erbb2 |
T |
A |
11: 98,318,225 (GRCm39) |
F487Y |
probably damaging |
Het |
| Exosc10 |
T |
C |
4: 148,657,810 (GRCm39) |
L652P |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,705,206 (GRCm39) |
M470K |
probably damaging |
Het |
| Gm15446 |
T |
A |
5: 110,090,902 (GRCm39) |
C385S |
probably damaging |
Het |
| Hspa8 |
A |
G |
9: 40,716,271 (GRCm39) |
E581G |
probably damaging |
Het |
| Igfn1 |
T |
C |
1: 135,898,205 (GRCm39) |
D787G |
probably benign |
Het |
| Igkv12-44 |
T |
C |
6: 69,791,838 (GRCm39) |
T42A |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,679,939 (GRCm39) |
|
probably benign |
Het |
| Jade2 |
T |
C |
11: 51,726,460 (GRCm39) |
E84G |
probably damaging |
Het |
| Lpar3 |
T |
A |
3: 145,946,352 (GRCm39) |
M10K |
possibly damaging |
Het |
| Lpin2 |
A |
G |
17: 71,550,925 (GRCm39) |
D695G |
probably damaging |
Het |
| Mosmo |
T |
A |
7: 120,325,418 (GRCm39) |
L7H |
probably damaging |
Het |
| Ms4a8a |
C |
T |
19: 11,058,436 (GRCm39) |
A9T |
unknown |
Het |
| Myb |
T |
C |
10: 21,030,653 (GRCm39) |
D48G |
probably damaging |
Het |
| Neurod6 |
T |
C |
6: 55,655,776 (GRCm39) |
Y287C |
probably damaging |
Het |
| Olr1 |
T |
A |
6: 129,476,947 (GRCm39) |
D106V |
probably damaging |
Het |
| Or11a4 |
A |
G |
17: 37,536,459 (GRCm39) |
T148A |
probably benign |
Het |
| Or8b4 |
A |
G |
9: 37,829,955 (GRCm39) |
M1V |
probably null |
Het |
| Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
| Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
| Ppfia3 |
T |
C |
7: 45,004,127 (GRCm39) |
Y505C |
probably damaging |
Het |
| Sdk2 |
T |
A |
11: 113,745,190 (GRCm39) |
I702F |
probably damaging |
Het |
| Slc16a11 |
T |
C |
11: 70,106,262 (GRCm39) |
F119L |
probably benign |
Het |
| Slc2a10 |
A |
C |
2: 165,359,623 (GRCm39) |
T496P |
probably damaging |
Het |
| Spata31e5 |
G |
A |
1: 28,817,780 (GRCm39) |
A84V |
probably benign |
Het |
| Stab2 |
G |
T |
10: 86,743,054 (GRCm39) |
P1185Q |
probably damaging |
Het |
| Tcf7l2 |
T |
A |
19: 55,907,446 (GRCm39) |
S335R |
probably damaging |
Het |
| Ttc41 |
G |
A |
10: 86,594,952 (GRCm39) |
|
probably null |
Het |
| Vmn2r32 |
A |
T |
7: 7,467,092 (GRCm39) |
I812N |
probably damaging |
Het |
| Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
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 |
|
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'- GAACTAAGCCAGGTTTCTCCAG -3'
(R):5'- TAAACGCTTACTCCGGGAGC -3'
Sequencing Primer
(F):5'- TAAGCCAGGTTTCTCCAGGAAGC -3'
(R):5'- ACTCCGGGAGCAATGGTTG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation