Incidental Mutation 'R3895:Slc22a5'
| ID |
310506 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a5
|
| Ensembl Gene |
ENSMUSG00000018900 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 5 |
| Synonyms |
Octn2, Lstpl |
| MMRRC Submission |
040806-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3895 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
53755368-53782486 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 53756651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 553
(K553R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019044]
[ENSMUST00000152084]
|
| AlphaFold |
Q9Z0E8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000019044
AA Change: K553R
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000019044
Gene: ENSMUSG00000018900
AA Change: K553R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
20 |
42 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
57 |
524 |
1.7e-28 |
PFAM |
|
Pfam:MFS_1
|
138 |
478 |
2.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152084
|
| Meta Mutation Damage Score |
0.0643 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
96% (45/47) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygotes for a spontaneous missense mutation exhibit systemic carnitine deficiency, cardiac hypertrophy, impaired Na-dependent carnitine transport, fatty liver, hypoglycemia, high postnatal mortality, and male infertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
C |
2: 127,814,445 (GRCm39) |
|
probably benign |
Het |
| C6 |
T |
C |
15: 4,837,952 (GRCm39) |
V854A |
probably benign |
Het |
| Ccnd1 |
T |
C |
7: 144,491,631 (GRCm39) |
E136G |
probably damaging |
Het |
| CK137956 |
A |
T |
4: 127,840,441 (GRCm39) |
F422I |
probably benign |
Het |
| Csta1 |
T |
C |
16: 35,951,402 (GRCm39) |
T7A |
probably benign |
Het |
| Dock8 |
A |
G |
19: 25,028,865 (GRCm39) |
E23G |
probably benign |
Het |
| Fbxo8 |
A |
T |
8: 57,044,556 (GRCm39) |
R286S |
probably damaging |
Het |
| Gm12258 |
T |
G |
11: 58,749,375 (GRCm39) |
Y183* |
probably null |
Het |
| Gvin-ps6 |
T |
A |
7: 106,022,621 (GRCm39) |
H127L |
probably damaging |
Het |
| Hectd3 |
A |
G |
4: 116,853,286 (GRCm39) |
D171G |
probably damaging |
Het |
| Hoxd11 |
C |
T |
2: 74,513,136 (GRCm39) |
R134W |
probably damaging |
Het |
| Ighg2c |
T |
C |
12: 113,251,278 (GRCm39) |
T246A |
unknown |
Het |
| Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
| Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
| Mast1 |
G |
A |
8: 85,662,352 (GRCm39) |
P52L |
probably damaging |
Het |
| Med13l |
A |
G |
5: 118,899,388 (GRCm39) |
D2148G |
probably null |
Het |
| Med24 |
A |
G |
11: 98,597,214 (GRCm39) |
S889P |
probably benign |
Het |
| Mgam |
T |
A |
6: 40,736,054 (GRCm39) |
M851K |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,484,602 (GRCm39) |
L710H |
probably damaging |
Het |
| Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myt1 |
T |
A |
2: 181,461,863 (GRCm39) |
S574R |
probably damaging |
Het |
| Nol11 |
C |
A |
11: 107,059,173 (GRCm39) |
V644F |
probably damaging |
Het |
| Nusap1 |
C |
A |
2: 119,458,172 (GRCm39) |
Q103K |
possibly damaging |
Het |
| Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
| Pcdh9 |
C |
T |
14: 94,124,974 (GRCm39) |
V399M |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,102,006 (GRCm39) |
S359P |
probably benign |
Het |
| Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
| Ptpn14 |
C |
T |
1: 189,582,743 (GRCm39) |
A530V |
probably benign |
Het |
| Rho |
A |
G |
6: 115,910,863 (GRCm39) |
Y136C |
probably damaging |
Het |
| Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sall2 |
T |
C |
14: 52,551,504 (GRCm39) |
N564D |
probably damaging |
Het |
| Sart3 |
G |
A |
5: 113,890,488 (GRCm39) |
R452* |
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,046,298 (GRCm39) |
I300V |
probably damaging |
Het |
| Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,355,456 (GRCm39) |
V375A |
probably damaging |
Het |
| Trafd1 |
T |
C |
5: 121,516,804 (GRCm39) |
E28G |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,818,786 (GRCm39) |
K1292R |
probably damaging |
Het |
| Twnk |
A |
G |
19: 44,995,890 (GRCm39) |
T108A |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,840,805 (GRCm39) |
H15Q |
probably benign |
Het |
| Vps16 |
T |
C |
2: 130,280,596 (GRCm39) |
S208P |
possibly damaging |
Het |
|
| Other mutations in Slc22a5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01374:Slc22a5
|
APN |
11 |
53,758,490 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02063:Slc22a5
|
APN |
11 |
53,765,899 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03008:Slc22a5
|
APN |
11 |
53,782,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03190:Slc22a5
|
APN |
11 |
53,765,840 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0055:Slc22a5
|
UTSW |
11 |
53,782,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0190:Slc22a5
|
UTSW |
11 |
53,760,241 (GRCm39) |
nonsense |
probably null |
|
|
R1498:Slc22a5
|
UTSW |
11 |
53,760,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Slc22a5
|
UTSW |
11 |
53,757,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Slc22a5
|
UTSW |
11 |
53,757,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2249:Slc22a5
|
UTSW |
11 |
53,774,532 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R3426:Slc22a5
|
UTSW |
11 |
53,760,152 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3427:Slc22a5
|
UTSW |
11 |
53,760,152 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3428:Slc22a5
|
UTSW |
11 |
53,760,152 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4582:Slc22a5
|
UTSW |
11 |
53,782,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Slc22a5
|
UTSW |
11 |
53,782,352 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5898:Slc22a5
|
UTSW |
11 |
53,764,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Slc22a5
|
UTSW |
11 |
53,766,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6063:Slc22a5
|
UTSW |
11 |
53,758,359 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6218:Slc22a5
|
UTSW |
11 |
53,782,444 (GRCm39) |
unclassified |
probably benign |
|
|
R6369:Slc22a5
|
UTSW |
11 |
53,782,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6827:Slc22a5
|
UTSW |
11 |
53,762,442 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7936:Slc22a5
|
UTSW |
11 |
53,760,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8499:Slc22a5
|
UTSW |
11 |
53,758,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9081:Slc22a5
|
UTSW |
11 |
53,762,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9178:Slc22a5
|
UTSW |
11 |
53,774,547 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9267:Slc22a5
|
UTSW |
11 |
53,764,619 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9269:Slc22a5
|
UTSW |
11 |
53,766,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9314:Slc22a5
|
UTSW |
11 |
53,762,487 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAGCTGTTTGGTTAGCC -3'
(R):5'- ATGCCAATGAAAGCAGCAGC -3'
Sequencing Primer
(F):5'- CTTGGTGGCCCTAGAGGAAG -3'
(R):5'- GCAGCAGCTCTGAACTACAGG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation