Incidental Mutation 'IGL03008:Slc22a5'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a5
Ensembl Gene ENSMUSG00000018900
Gene Namesolute carrier family 22 (organic cation transporter), member 5
SynonymsLstpl, Octn2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03008
Quality Score
Chromosomal Location53864542-53891660 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 53891232 bp
Amino Acid Change Valine to Glutamic Acid at position 103 (V103E)
Ref Sequence ENSEMBL: ENSMUSP00000019044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019044] [ENSMUST00000136307]
Predicted Effect probably damaging
Transcript: ENSMUST00000019044
AA Change: V103E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000019044
Gene: ENSMUSG00000018900
AA Change: V103E

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 possibly damaging
Transcript: ENSMUST00000136307
AA Change: V103E

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118900
Gene: ENSMUSG00000018900
AA Change: V103E

transmembrane domain 20 42 N/A INTRINSIC
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830010M20Rik T G 5: 107,491,598 probably null Het
AF529169 A G 9: 89,596,678 Y772H probably damaging Het
Aga T C 8: 53,511,826 S8P probably benign Het
Ankrd34c C T 9: 89,730,284 M1I probably null Het
Ankrd44 T C 1: 54,766,809 H146R probably damaging Het
Bst1 A G 5: 43,826,262 probably null Het
Cdh12 A T 15: 21,480,330 I211F probably damaging Het
Cenpj G T 14: 56,526,949 D1335E probably benign Het
Clpx G A 9: 65,322,775 V502I possibly damaging Het
Cntnap4 T C 8: 112,773,590 S505P probably benign Het
Cog2 T C 8: 124,535,392 probably benign Het
Cped1 A G 6: 22,233,602 Q819R probably benign Het
Cspg4 A G 9: 56,898,475 E2190G possibly damaging Het
Ctsa G A 2: 164,837,448 R359Q probably damaging Het
Cul9 A G 17: 46,502,697 probably benign Het
Dab1 G T 4: 104,727,580 V306F probably damaging Het
Dysf A G 6: 84,073,894 I438V probably benign Het
Eif4g3 G T 4: 138,120,388 G380W probably damaging Het
Exd1 T A 2: 119,520,381 K466N probably benign Het
Eya3 A C 4: 132,706,983 D325A probably damaging Het
Fmn1 A G 2: 113,365,100 T382A unknown Het
Fry T A 5: 150,345,556 D106E possibly damaging Het
Gm21957 T A 7: 125,219,561 noncoding transcript Het
Gm44511 A G 6: 128,784,096 probably benign Het
Gm884 T C 11: 103,620,467 E225G unknown Het
Itga4 A G 2: 79,325,638 I983V probably benign Het
Lrpprc A T 17: 84,751,247 D5E probably benign Het
Ltbp4 G T 7: 27,324,364 N747K probably damaging Het
Mlh3 T C 12: 85,240,851 Q1308R probably benign Het
Mtfr2 T A 10: 20,353,439 C63S possibly damaging Het
Myh11 T A 16: 14,204,753 M1661L probably benign Het
Myo1c T C 11: 75,658,414 M137T probably benign Het
Myocd A C 11: 65,187,566 L340V probably damaging Het
Napsa A T 7: 44,585,796 Q335L possibly damaging Het
Nlrp4b C A 7: 10,714,589 Q240K probably benign Het
Npepps A C 11: 97,238,158 F400C probably damaging Het
Nxpe4 A T 9: 48,393,438 E275V probably benign Het
Ofd1 T C X: 166,409,534 D501G probably benign Het
Olfr1310 A G 2: 112,008,523 I221T possibly damaging Het
Olfr228 A T 2: 86,483,334 M136K probably damaging Het
Olfr507 T G 7: 108,622,283 L157R probably damaging Het
Olfr525 T C 7: 140,323,532 Y278H probably damaging Het
P2ry1 A T 3: 61,003,526 T29S probably benign Het
Papss1 T C 3: 131,585,099 V201A possibly damaging Het
Paxip1 A G 5: 27,752,766 V864A probably benign Het
Pcdhgc5 T A 18: 37,821,834 H720Q probably benign Het
Pdxdc1 T C 16: 13,876,159 N133S possibly damaging Het
Prkar1a T C 11: 109,653,864 I27T probably damaging Het
Rnf10 G T 5: 115,251,296 H271N possibly damaging Het
Scn9a A G 2: 66,562,511 S246P probably damaging Het
Sertad2 G T 11: 20,647,798 probably benign Het
Slc22a27 A G 19: 7,909,702 I274T possibly damaging Het
Slc5a9 A T 4: 111,890,941 F225I probably benign Het
Slc6a3 G A 13: 73,558,285 probably null Het
Smcr8 A G 11: 60,778,461 E145G probably damaging Het
Spen A T 4: 141,476,137 D1726E possibly damaging Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stag1 A T 9: 100,776,791 N144Y probably damaging Het
Strada T C 11: 106,170,957 H156R probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tas2r138 A C 6: 40,613,182 D43E probably damaging Het
Tdpoz3 A T 3: 93,826,335 K106* probably null Het
Trbv13-1 A G 6: 41,116,295 D54G probably damaging Het
Ttc39b A G 4: 83,247,695 V218A probably benign Het
Ttn G A 2: 76,780,859 T15697I probably damaging Het
Ugt2b38 G A 5: 87,412,423 T344I probably benign Het
Vmn2r94 T C 17: 18,257,646 M168V probably benign Het
Wdr11 T C 7: 129,606,991 probably benign Het
Wipf2 T C 11: 98,892,728 probably benign Het
Zranb2 T A 3: 157,546,665 probably null Het
Other mutations in Slc22a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Slc22a5 APN 11 53867664 missense probably benign 0.39
IGL02063:Slc22a5 APN 11 53875073 missense probably damaging 0.99
IGL03190:Slc22a5 APN 11 53875014 missense probably benign 0.02
R0055:Slc22a5 UTSW 11 53891206 missense probably benign 0.00
R0190:Slc22a5 UTSW 11 53869415 nonsense probably null
R1498:Slc22a5 UTSW 11 53869314 missense probably damaging 1.00
R1729:Slc22a5 UTSW 11 53866351 missense probably damaging 1.00
R1784:Slc22a5 UTSW 11 53866351 missense probably damaging 1.00
R2249:Slc22a5 UTSW 11 53883706 missense possibly damaging 0.73
R3426:Slc22a5 UTSW 11 53869326 missense probably benign 0.03
R3427:Slc22a5 UTSW 11 53869326 missense probably benign 0.03
R3428:Slc22a5 UTSW 11 53869326 missense probably benign 0.03
R3895:Slc22a5 UTSW 11 53865825 missense possibly damaging 0.64
R4582:Slc22a5 UTSW 11 53891209 missense probably damaging 1.00
R4965:Slc22a5 UTSW 11 53891526 missense possibly damaging 0.94
R5898:Slc22a5 UTSW 11 53873733 missense probably damaging 1.00
R6018:Slc22a5 UTSW 11 53876020 missense probably damaging 1.00
R6063:Slc22a5 UTSW 11 53867533 missense possibly damaging 0.79
R6218:Slc22a5 UTSW 11 53891618 unclassified probably benign
R6369:Slc22a5 UTSW 11 53891370 missense probably damaging 1.00
R6827:Slc22a5 UTSW 11 53871616 missense possibly damaging 0.92
R7936:Slc22a5 UTSW 11 53869389 missense probably damaging 0.98
R8499:Slc22a5 UTSW 11 53867643 missense probably damaging 1.00
Posted On2016-08-02