Incidental Mutation 'R6971:Slc3a2'
| ID |
542276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc3a2
|
| Ensembl Gene |
ENSMUSG00000010095 |
| Gene Name |
solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 |
| Synonyms |
Ly-m10, Ly-10, Cd98, Mdu1, 4F2HC, Mgp-2hc |
| MMRRC Submission |
045081-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6971 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8684931-8700733 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 8686974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010239]
[ENSMUST00000170157]
[ENSMUST00000205377]
[ENSMUST00000205538]
[ENSMUST00000206560]
[ENSMUST00000206598]
[ENSMUST00000206797]
|
| AlphaFold |
P10852 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000010239
|
| SMART Domains |
Protein: ENSMUSP00000010239
Gene: ENSMUSG00000010095
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
76 |
98 |
N/A |
INTRINSIC |
|
Pfam:Alpha-amylase
|
132 |
219 |
8.2e-15 |
PFAM |
|
low complexity region
|
286 |
305 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170157
|
| SMART Domains |
Protein: ENSMUSP00000130194
Gene: ENSMUSG00000010095
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SLC3A2_N
|
79 |
157 |
9.3e-35 |
PFAM |
|
Pfam:Alpha-amylase
|
171 |
258 |
1.7e-15 |
PFAM |
|
low complexity region
|
325 |
344 |
N/A |
INTRINSIC |
|
low complexity region
|
382 |
393 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205377
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205463
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205538
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206560
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000206598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206797
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 97.1%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous mutant mice display embryonic lethality. Mice homozygous for a conditional allele activated in the intestinal epithelia exhibit resistance to decreased susceptibility to induced colitis and colitis-associated cancer. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
A |
T |
10: 87,000,903 (GRCm39) |
T32S |
possibly damaging |
Het |
| 2210408I21Rik |
A |
G |
13: 77,341,306 (GRCm39) |
S52G |
possibly damaging |
Het |
| Aadacl4 |
G |
A |
4: 144,349,303 (GRCm39) |
V187M |
probably damaging |
Het |
| Adprhl1 |
T |
A |
8: 13,273,476 (GRCm39) |
Q1094L |
probably benign |
Het |
| Amigo1 |
C |
T |
3: 108,095,452 (GRCm39) |
S317L |
probably benign |
Het |
| Brca1 |
A |
G |
11: 101,424,831 (GRCm39) |
F32L |
probably benign |
Het |
| C1qtnf7 |
T |
A |
5: 43,766,392 (GRCm39) |
|
probably null |
Het |
| Ccdc88c |
A |
T |
12: 100,920,486 (GRCm39) |
D378E |
probably damaging |
Het |
| Ccdc97 |
G |
T |
7: 25,414,384 (GRCm39) |
Y123* |
probably null |
Het |
| Cdk10 |
T |
A |
8: 123,954,413 (GRCm39) |
M46K |
probably damaging |
Het |
| Dsc3 |
A |
G |
18: 20,099,275 (GRCm39) |
|
probably null |
Het |
| Ephx3 |
T |
A |
17: 32,407,177 (GRCm39) |
N254Y |
possibly damaging |
Het |
| Fnip2 |
G |
A |
3: 79,388,428 (GRCm39) |
R768* |
probably null |
Het |
| Glra1 |
A |
T |
11: 55,427,325 (GRCm39) |
Y3* |
probably null |
Het |
| Gltpd2 |
A |
G |
11: 70,411,290 (GRCm39) |
T194A |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,795,526 (GRCm39) |
L2301* |
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,868,802 (GRCm39) |
M1L |
probably benign |
Het |
| Hmcn2 |
G |
A |
2: 31,322,333 (GRCm39) |
E4133K |
probably benign |
Het |
| Hps3 |
A |
T |
3: 20,065,699 (GRCm39) |
L714I |
probably damaging |
Het |
| Igfbpl1 |
A |
G |
4: 45,816,333 (GRCm39) |
V164A |
possibly damaging |
Het |
| Ip6k2 |
T |
C |
9: 108,674,510 (GRCm39) |
|
probably benign |
Het |
| Itgb8 |
A |
T |
12: 119,154,366 (GRCm39) |
Y224N |
probably damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,440,646 (GRCm39) |
L624S |
probably benign |
Het |
| Mdga2 |
A |
G |
12: 66,597,335 (GRCm39) |
Y720H |
probably damaging |
Het |
| Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
| Msl2 |
T |
C |
9: 100,978,042 (GRCm39) |
F139L |
probably benign |
Het |
| Nuggc |
T |
C |
14: 65,846,305 (GRCm39) |
V72A |
probably benign |
Het |
| Or9k2b |
A |
T |
10: 130,016,638 (GRCm39) |
V37E |
possibly damaging |
Het |
| Pde2a |
T |
A |
7: 101,159,520 (GRCm39) |
Y783* |
probably null |
Het |
| Pfkfb2 |
A |
G |
1: 130,628,533 (GRCm39) |
Y358H |
probably damaging |
Het |
| Pou2f1 |
A |
G |
1: 165,759,258 (GRCm39) |
S23P |
probably damaging |
Het |
| Prrc2a |
T |
C |
17: 35,378,477 (GRCm39) |
|
probably null |
Het |
| Prss36 |
T |
C |
7: 127,544,410 (GRCm39) |
T92A |
probably benign |
Het |
| Rnft2 |
A |
G |
5: 118,332,635 (GRCm39) |
|
probably benign |
Het |
| Sbno2 |
A |
G |
10: 79,895,868 (GRCm39) |
V971A |
possibly damaging |
Het |
| Sec63 |
A |
G |
10: 42,659,438 (GRCm39) |
E42G |
probably damaging |
Het |
| Setdb2 |
A |
T |
14: 59,653,189 (GRCm39) |
L371Q |
probably damaging |
Het |
| Shprh |
A |
T |
10: 11,042,437 (GRCm39) |
I807F |
probably damaging |
Het |
| Srbd1 |
T |
C |
17: 86,406,718 (GRCm39) |
I556V |
possibly damaging |
Het |
| Stim2 |
T |
A |
5: 54,275,641 (GRCm39) |
C605* |
probably null |
Het |
| Tecrl |
T |
C |
5: 83,502,649 (GRCm39) |
T67A |
possibly damaging |
Het |
| Ttc33 |
C |
A |
15: 5,241,523 (GRCm39) |
A116E |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,772,393 (GRCm39) |
T2503I |
possibly damaging |
Het |
| Ubp1 |
T |
C |
9: 113,801,831 (GRCm39) |
I468T |
probably damaging |
Het |
| Urgcp |
A |
T |
11: 5,668,115 (GRCm39) |
H74Q |
probably benign |
Het |
| Vcan |
A |
G |
13: 89,826,252 (GRCm39) |
I2224T |
probably damaging |
Het |
| Vmn1r8 |
T |
A |
6: 57,013,400 (GRCm39) |
N150K |
probably damaging |
Het |
| Vmn2r3 |
A |
G |
3: 64,166,668 (GRCm39) |
M821T |
probably damaging |
Het |
| Zfp777 |
C |
A |
6: 48,001,625 (GRCm39) |
A866S |
probably damaging |
Het |
|
| Other mutations in Slc3a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01374:Slc3a2
|
APN |
19 |
8,690,701 (GRCm39) |
splice site |
probably null |
|
|
IGL02541:Slc3a2
|
APN |
19 |
8,685,123 (GRCm39) |
nonsense |
probably null |
|
|
Underdeveloped
|
UTSW |
19 |
8,690,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Slc3a2
|
UTSW |
19 |
8,685,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1015:Slc3a2
|
UTSW |
19 |
8,685,319 (GRCm39) |
nonsense |
probably null |
|
|
R2135:Slc3a2
|
UTSW |
19 |
8,685,608 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5406:Slc3a2
|
UTSW |
19 |
8,685,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:Slc3a2
|
UTSW |
19 |
8,691,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5603:Slc3a2
|
UTSW |
19 |
8,691,092 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5715:Slc3a2
|
UTSW |
19 |
8,685,594 (GRCm39) |
missense |
probably benign |
|
|
R5949:Slc3a2
|
UTSW |
19 |
8,690,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6466:Slc3a2
|
UTSW |
19 |
8,686,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Slc3a2
|
UTSW |
19 |
8,685,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6860:Slc3a2
|
UTSW |
19 |
8,690,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7252:Slc3a2
|
UTSW |
19 |
8,700,521 (GRCm39) |
start gained |
probably benign |
|
|
R7915:Slc3a2
|
UTSW |
19 |
8,685,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9423:Slc3a2
|
UTSW |
19 |
8,690,189 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9681:Slc3a2
|
UTSW |
19 |
8,691,226 (GRCm39) |
intron |
probably benign |
|
|
R9689:Slc3a2
|
UTSW |
19 |
8,686,594 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9729:Slc3a2
|
UTSW |
19 |
8,685,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCCTGCAATCAAAAGCCTG -3'
(R):5'- TTGTCCCCTGTAGGAAGCTCTG -3'
Sequencing Primer
(F):5'- TAGGAGTGTGATTAGAAAATGTCAGG -3'
(R):5'- CCCTGTAGGAAGCTCTGAGTTC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation