Incidental Mutation 'R5949:Slc3a2'
ID |
472356 |
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 |
044139-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5949 (G1)
|
Quality Score |
162 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
8684931-8700733 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8690759 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 118
(Y118C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145892
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010239]
[ENSMUST00000170157]
[ENSMUST00000205377]
[ENSMUST00000205538]
[ENSMUST00000206560]
[ENSMUST00000206598]
[ENSMUST00000206797]
|
AlphaFold |
P10852 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000010239
AA Change: Y118C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000010239 Gene: ENSMUSG00000010095 AA Change: Y118C
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 damaging
Transcript: ENSMUST00000170157
AA Change: Y157C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130194 Gene: ENSMUSG00000010095 AA Change: Y157C
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206560
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206598
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000206797
AA Change: Y118C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206895
|
Meta Mutation Damage Score |
0.9333 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
Validation Efficiency |
92% (58/63) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,655,032 (GRCm39) |
Y1452C |
probably damaging |
Het |
Adcy10 |
A |
T |
1: 165,367,386 (GRCm39) |
H552L |
possibly damaging |
Het |
Alms1-ps1 |
A |
T |
6: 85,698,943 (GRCm39) |
|
noncoding transcript |
Het |
Arhgap21 |
A |
G |
2: 20,853,852 (GRCm39) |
S1837P |
probably damaging |
Het |
Atad5 |
G |
T |
11: 79,986,835 (GRCm39) |
E641* |
probably null |
Het |
Atp8b4 |
T |
A |
2: 126,247,242 (GRCm39) |
T276S |
probably benign |
Het |
Bptf |
A |
G |
11: 107,001,915 (GRCm39) |
I399T |
probably damaging |
Het |
Carf |
A |
C |
1: 60,178,472 (GRCm39) |
K295T |
probably damaging |
Het |
Cd209d |
T |
A |
8: 3,927,949 (GRCm39) |
N52Y |
possibly damaging |
Het |
Cdh2 |
T |
A |
18: 16,734,687 (GRCm39) |
I779F |
probably damaging |
Het |
Cdon |
G |
A |
9: 35,398,247 (GRCm39) |
R988H |
probably benign |
Het |
Cfhr4 |
A |
T |
1: 139,660,887 (GRCm39) |
H600Q |
probably damaging |
Het |
Cic |
C |
T |
7: 24,971,730 (GRCm39) |
T487M |
probably damaging |
Het |
Dcps |
A |
G |
9: 35,036,557 (GRCm39) |
|
probably benign |
Het |
Ddx41 |
A |
G |
13: 55,679,874 (GRCm39) |
C427R |
probably damaging |
Het |
Diras2 |
T |
C |
13: 52,661,747 (GRCm39) |
K187E |
possibly damaging |
Het |
Emb |
A |
G |
13: 117,403,928 (GRCm39) |
I227V |
probably benign |
Het |
Fam193a |
T |
A |
5: 34,597,816 (GRCm39) |
S538T |
possibly damaging |
Het |
Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
Galnt6 |
A |
T |
15: 100,594,431 (GRCm39) |
N533K |
probably damaging |
Het |
Grip1 |
A |
G |
10: 119,886,147 (GRCm39) |
D499G |
probably benign |
Het |
Ifih1 |
T |
C |
2: 62,440,904 (GRCm39) |
N421D |
probably benign |
Het |
Ifng |
G |
C |
10: 118,278,529 (GRCm39) |
M63I |
probably benign |
Het |
Ighv1-43 |
A |
G |
12: 114,910,002 (GRCm39) |
M1T |
probably null |
Het |
Kif20a |
G |
A |
18: 34,765,468 (GRCm39) |
A822T |
probably benign |
Het |
Krt87 |
A |
T |
15: 101,385,476 (GRCm39) |
C299S |
probably damaging |
Het |
Lrrn1 |
G |
T |
6: 107,544,465 (GRCm39) |
V88L |
probably benign |
Het |
Mapkapk2 |
A |
G |
1: 130,985,742 (GRCm39) |
V173A |
possibly damaging |
Het |
Mrap2 |
T |
G |
9: 87,064,658 (GRCm39) |
V133G |
probably benign |
Het |
Nlrp1a |
T |
A |
11: 70,989,815 (GRCm39) |
D984V |
probably damaging |
Het |
Or4c125 |
A |
G |
2: 89,170,229 (GRCm39) |
V139A |
probably damaging |
Het |
Or5p59 |
T |
C |
7: 107,703,404 (GRCm39) |
L296P |
probably damaging |
Het |
Pcdh17 |
T |
C |
14: 84,684,996 (GRCm39) |
Y488H |
probably damaging |
Het |
Pih1d2 |
C |
T |
9: 50,536,284 (GRCm39) |
P313L |
probably damaging |
Het |
Ralgapb |
T |
C |
2: 158,296,179 (GRCm39) |
C839R |
probably damaging |
Het |
Rdh5 |
C |
A |
10: 128,754,136 (GRCm39) |
R29L |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,554,429 (GRCm39) |
D90G |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,333,905 (GRCm39) |
Y3038C |
probably damaging |
Het |
Sec14l2 |
A |
T |
11: 4,058,972 (GRCm39) |
V191D |
probably damaging |
Het |
Sorbs2 |
T |
C |
8: 46,222,934 (GRCm39) |
|
probably null |
Het |
Stab2 |
A |
G |
10: 86,805,713 (GRCm39) |
L211P |
possibly damaging |
Het |
Tbc1d9b |
T |
C |
11: 50,038,876 (GRCm39) |
C289R |
probably benign |
Het |
Tfpi |
T |
C |
2: 84,275,092 (GRCm39) |
E172G |
probably benign |
Het |
Tmem106b |
T |
A |
6: 13,083,418 (GRCm39) |
M229K |
probably damaging |
Het |
Tsfm |
G |
A |
10: 126,864,244 (GRCm39) |
T157M |
probably damaging |
Het |
Tshr |
G |
A |
12: 91,503,992 (GRCm39) |
R310H |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,608,244 (GRCm39) |
A17893V |
possibly damaging |
Het |
Vps39 |
A |
G |
2: 120,159,149 (GRCm39) |
Y380H |
probably benign |
Het |
Xylt2 |
G |
A |
11: 94,559,309 (GRCm39) |
R383C |
probably damaging |
Het |
Zfp719 |
C |
T |
7: 43,233,541 (GRCm39) |
|
probably benign |
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 |
|
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'- CAGTAAAGAATCACCAGCGTTC -3'
(R):5'- TCTGGTGAAGATCAAGGTGGC -3'
Sequencing Primer
(F):5'- TCACCAGCGTTCTAGAGAAGACG -3'
(R):5'- AGTTCACCGGCTTATCCAAGGAG -3'
|
Posted On |
2017-03-31 |