Incidental Mutation 'R5537:Slc7a2'
| ID |
434881 |
| 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 |
043095-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5537 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
41315404-41375107 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 41367023 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 510
(I510F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057784]
[ENSMUST00000098816]
[ENSMUST00000117077]
[ENSMUST00000118432]
|
| AlphaFold |
P18581 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057784
AA Change: I509F
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000058866
Gene: ENSMUSG00000031596
AA Change: I509F
| 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: I510F
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000096414
Gene: ENSMUSG00000031596
AA Change: I510F
| 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: I510F
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113729
Gene: ENSMUSG00000031596
AA Change: I510F
| 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: I526F
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000112848
Gene: ENSMUSG00000031596
AA Change: I526F
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
T |
5: 9,005,485 (GRCm39) |
I1123F |
probably damaging |
Het |
| Acsl3 |
C |
T |
1: 78,684,073 (GRCm39) |
R702C |
probably damaging |
Het |
| Ank1 |
A |
G |
8: 23,604,892 (GRCm39) |
E1031G |
probably damaging |
Het |
| Ankle2 |
T |
C |
5: 110,397,361 (GRCm39) |
S536P |
probably damaging |
Het |
| Arfgef2 |
G |
T |
2: 166,698,513 (GRCm39) |
|
probably null |
Het |
| Bahd1 |
G |
T |
2: 118,746,461 (GRCm39) |
D27Y |
probably damaging |
Het |
| Brinp2 |
C |
T |
1: 158,082,583 (GRCm39) |
V246I |
probably damaging |
Het |
| Ccdc187 |
C |
A |
2: 26,166,237 (GRCm39) |
A731S |
probably benign |
Het |
| Cdc37l1 |
T |
A |
19: 28,972,518 (GRCm39) |
N70K |
probably damaging |
Het |
| Cdk5r1 |
A |
G |
11: 80,368,825 (GRCm39) |
Y164C |
probably damaging |
Het |
| Clrn3 |
A |
T |
7: 135,115,791 (GRCm39) |
H186Q |
probably benign |
Het |
| Col12a1 |
G |
A |
9: 79,606,872 (GRCm39) |
T517I |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,054,682 (GRCm39) |
N98K |
possibly damaging |
Het |
| Dst |
C |
T |
1: 34,228,959 (GRCm39) |
S2362L |
probably benign |
Het |
| Eapp |
G |
A |
12: 54,738,844 (GRCm39) |
T98I |
probably benign |
Het |
| Iqsec3 |
T |
C |
6: 121,389,603 (GRCm39) |
|
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,713 (GRCm39) |
V55A |
probably benign |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
C |
10: 115,292,594 (GRCm39) |
D432G |
probably benign |
Het |
| Mrgprx1 |
T |
A |
7: 47,670,898 (GRCm39) |
H283L |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,019,914 (GRCm39) |
F134L |
probably benign |
Het |
| Or1e34 |
T |
C |
11: 73,778,523 (GRCm39) |
K225R |
probably benign |
Het |
| Or4f14b |
A |
T |
2: 111,775,393 (GRCm39) |
M136K |
probably damaging |
Het |
| Or5m5 |
T |
A |
2: 85,814,570 (GRCm39) |
Y129N |
possibly damaging |
Het |
| Or8b43 |
T |
A |
9: 38,360,538 (GRCm39) |
Y123* |
probably null |
Het |
| Pfkp |
C |
A |
13: 6,669,278 (GRCm39) |
W235L |
probably damaging |
Het |
| Prom1 |
C |
T |
5: 44,158,118 (GRCm39) |
|
probably null |
Het |
| Psma5-ps |
A |
G |
10: 85,149,913 (GRCm39) |
|
noncoding transcript |
Het |
| Rab14 |
A |
T |
2: 35,082,649 (GRCm39) |
F12L |
possibly damaging |
Het |
| Rnf40 |
T |
A |
7: 127,195,261 (GRCm39) |
I429N |
probably benign |
Het |
| S100pbp |
G |
A |
4: 129,075,981 (GRCm39) |
P115S |
probably benign |
Het |
| Scarf1 |
G |
A |
11: 75,416,357 (GRCm39) |
A600T |
probably damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,609,059 (GRCm39) |
F755L |
probably benign |
Het |
| Spag16 |
T |
C |
1: 69,866,175 (GRCm39) |
S5P |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,061,641 (GRCm39) |
Y631C |
probably damaging |
Het |
| Tmem182 |
A |
T |
1: 40,894,069 (GRCm39) |
I195F |
probably benign |
Het |
| Tox |
A |
G |
4: 6,697,510 (GRCm39) |
L431P |
probably damaging |
Het |
| Tprn |
G |
A |
2: 25,153,369 (GRCm39) |
A224T |
probably benign |
Het |
| Tsg101 |
T |
C |
7: 46,540,876 (GRCm39) |
K294E |
probably benign |
Het |
| Tubb2a |
C |
A |
13: 34,259,434 (GRCm39) |
V119L |
probably benign |
Het |
| Vps37d |
C |
T |
5: 135,103,256 (GRCm39) |
E129K |
possibly damaging |
Het |
| Zfp974 |
TAATCTGTCTCCAAATCTG |
TAATCTG |
7: 27,611,671 (GRCm39) |
|
probably benign |
Het |
| Zpld1 |
A |
G |
16: 55,054,003 (GRCm39) |
V263A |
possibly 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 |
|
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'- ATGGGGAGGTAGATGCCTTC -3'
(R):5'- CACAGAGTGTACACAGCAATTAGG -3'
Sequencing Primer
(F):5'- AGGTAGATGCCTTCATAGAAATCAG -3'
(R):5'- CAAATGGTCAGAATGACGG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation