Incidental Mutation 'R5603:Slc3a2'
| ID |
439159 |
| 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 |
043155-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5603 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8684931-8700733 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 8691092 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 7
(V7A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010239]
[ENSMUST00000170157]
[ENSMUST00000205377]
[ENSMUST00000205538]
[ENSMUST00000206560]
[ENSMUST00000206598]
[ENSMUST00000206797]
|
| AlphaFold |
P10852 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010239
AA Change: V7A
PolyPhen 2
Score 0.432 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000010239
Gene: ENSMUSG00000010095
AA Change: V7A
| 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 benign
Transcript: ENSMUST00000170157
AA Change: V46A
PolyPhen 2
Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000130194
Gene: ENSMUSG00000010095
AA Change: V46A
| 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 benign
Transcript: ENSMUST00000205377
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205463
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205538
AA Change: V7A
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206560
AA Change: V7A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206598
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206797
AA Change: V7A
PolyPhen 2
Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206895
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
A |
G |
5: 144,202,787 (GRCm39) |
S509P |
probably damaging |
Het |
| Bud31 |
T |
C |
5: 145,081,769 (GRCm39) |
I52T |
possibly damaging |
Het |
| Cacna1g |
C |
T |
11: 94,330,578 (GRCm39) |
S979N |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,221,246 (GRCm39) |
W253R |
probably damaging |
Het |
| Ccna1 |
A |
G |
3: 54,958,330 (GRCm39) |
Y118H |
probably damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,721,497 (GRCm39) |
T71A |
probably benign |
Het |
| Chaf1b |
A |
G |
16: 93,689,683 (GRCm39) |
T19A |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,432,603 (GRCm39) |
V850D |
probably damaging |
Het |
| Cpsf2 |
C |
A |
12: 101,964,890 (GRCm39) |
Q513K |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,420,078 (GRCm39) |
V3792G |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Exoc6b |
T |
C |
6: 84,812,126 (GRCm39) |
D625G |
possibly damaging |
Het |
| Gad1 |
C |
A |
2: 70,420,173 (GRCm39) |
F352L |
probably damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,900,395 (GRCm39) |
E162G |
probably damaging |
Het |
| Grm6 |
T |
A |
11: 50,747,786 (GRCm39) |
F333I |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,924,358 (GRCm39) |
F1952L |
probably benign |
Het |
| Ighv1-42 |
C |
T |
12: 114,901,132 (GRCm39) |
|
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,450,706 (GRCm39) |
T578A |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mfsd14b |
T |
C |
13: 65,221,420 (GRCm39) |
K291E |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,564,331 (GRCm39) |
L379P |
probably damaging |
Het |
| Mtmr6 |
A |
T |
14: 60,522,450 (GRCm39) |
K183* |
probably null |
Het |
| Mylk |
A |
G |
16: 34,776,862 (GRCm39) |
N1345S |
probably benign |
Het |
| Nab2 |
A |
T |
10: 127,500,990 (GRCm39) |
M1K |
probably null |
Het |
| Ngly1 |
C |
A |
14: 16,260,762 (GRCm38) |
Q149K |
probably benign |
Het |
| Npy6r |
T |
A |
18: 44,409,652 (GRCm39) |
S358T |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,907,228 (GRCm39) |
T156A |
probably benign |
Het |
| Pik3cd |
A |
T |
4: 149,743,312 (GRCm39) |
C263S |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,344,066 (GRCm39) |
C455* |
probably null |
Het |
| Ptk2b |
A |
T |
14: 66,409,514 (GRCm39) |
Y507* |
probably null |
Het |
| Rbm25 |
C |
T |
12: 83,710,990 (GRCm39) |
R368* |
probably null |
Het |
| Rnf207 |
T |
C |
4: 152,396,851 (GRCm39) |
Y396C |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,506,961 (GRCm39) |
V328E |
possibly damaging |
Het |
| Spata18 |
G |
A |
5: 73,828,575 (GRCm39) |
V265I |
probably benign |
Het |
| Tmem120b |
T |
A |
5: 123,239,705 (GRCm39) |
V108D |
possibly damaging |
Het |
| Ugt1a2 |
T |
C |
1: 88,129,148 (GRCm39) |
Y264H |
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 |
|
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 |
|
R6971:Slc3a2
|
UTSW |
19 |
8,686,974 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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'- TCAGTAGCTCCTCCTTGGATAAGC -3'
(R):5'- GCGAAAAGACTTCTCTGCATC -3'
Sequencing Primer
(F):5'- TCCTTGGATAAGCCGGTGAAC -3'
(R):5'- ATCTCTTTAAGAGGCGGACCG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation