Incidental Mutation 'IGL03190:Slc22a5'
ID 412616
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a5
Ensembl Gene ENSMUSG00000018900
Gene Name solute carrier family 22 (organic cation transporter), member 5
Synonyms Octn2, Lstpl
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03190
Quality Score
Status
Chromosome 11
Chromosomal Location 53755368-53782486 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53765840 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 249 (F249L)
Ref Sequence ENSEMBL: ENSMUSP00000019044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019044] [ENSMUST00000136307] [ENSMUST00000152084]
AlphaFold Q9Z0E8
Predicted Effect probably benign
Transcript: ENSMUST00000019044
AA Change: F249L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000019044
Gene: ENSMUSG00000018900
AA Change: F249L

DomainStartEndE-ValueType
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: ENSMUST00000136307
SMART Domains Protein: ENSMUSP00000118900
Gene: ENSMUSG00000018900

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152084
Coding Region Coverage
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 56,016,510 (GRCm39) C314S probably damaging Het
Agr2 T A 12: 36,048,634 (GRCm39) I128N probably damaging Het
Akr1c6 T C 13: 4,496,412 (GRCm39) I91T possibly damaging Het
Ankrd45 A G 1: 160,990,909 (GRCm39) I221V probably benign Het
Armc3 A T 2: 19,293,761 (GRCm39) L517F probably damaging Het
Atp13a3 A T 16: 30,141,766 (GRCm39) M1129K probably benign Het
Atp6v0a4 T A 6: 38,031,491 (GRCm39) Q670L probably benign Het
Bank1 T C 3: 135,806,185 (GRCm39) Y483C probably damaging Het
Bcan A T 3: 87,900,357 (GRCm39) probably benign Het
Bcl11a G A 11: 24,108,333 (GRCm39) E104K probably benign Het
Clasp2 C T 9: 113,673,208 (GRCm39) Q368* probably null Het
Clcn1 T A 6: 42,267,037 (GRCm39) Y71N probably benign Het
Cul2 C T 18: 3,429,634 (GRCm39) T498I possibly damaging Het
Fat4 A G 3: 39,035,390 (GRCm39) D3014G probably damaging Het
Flnc T C 6: 29,445,636 (GRCm39) probably benign Het
Il36g C A 2: 24,077,272 (GRCm39) S28* probably null Het
Itgb3bp A G 4: 99,677,923 (GRCm39) probably benign Het
Itm2b G A 14: 73,603,229 (GRCm39) P120L probably damaging Het
Klk1b26 T C 7: 43,662,151 (GRCm39) F3S possibly damaging Het
Lin52 T C 12: 84,504,732 (GRCm39) V39A probably damaging Het
Magt1 A C X: 105,032,622 (GRCm39) N242K probably benign Het
Nos3 A G 5: 24,588,627 (GRCm39) M1118V probably damaging Het
Or1j13 A T 2: 36,369,734 (GRCm39) M136K probably damaging Het
Or6k2 T C 1: 173,987,110 (GRCm39) V257A probably damaging Het
Paqr5 A C 9: 61,880,084 (GRCm39) L56R probably damaging Het
Pcdhb16 T C 18: 37,612,396 (GRCm39) F452S probably damaging Het
Prdm5 T A 6: 65,833,116 (GRCm39) probably benign Het
Rps6ka5 A G 12: 100,524,907 (GRCm39) probably benign Het
Spata31f1a C A 4: 42,848,362 (GRCm39) G1265C probably benign Het
Ttll2 T C 17: 7,618,779 (GRCm39) K383E probably benign Het
Ube2o G A 11: 116,435,954 (GRCm39) P353L probably damaging Het
Vmn1r63 T C 7: 5,806,110 (GRCm39) D174G probably benign Het
Vmn2r82 A G 10: 79,192,643 (GRCm39) probably null Het
Xpnpep2 T A X: 47,207,205 (GRCm39) probably benign Het
Zfp352 T A 4: 90,111,994 (GRCm39) S45T possibly damaging Het
Zfp811 A G 17: 33,017,855 (GRCm39) probably benign Het
Zfyve19 G A 2: 119,046,717 (GRCm39) A304T probably damaging Het
Other mutations in Slc22a5
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R3895:Slc22a5 UTSW 11 53,756,651 (GRCm39) missense possibly damaging 0.64
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
Posted On 2016-08-02