Incidental Mutation 'R5898:Slc22a5'
ID 457677
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 044097-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5898 (G1)
Quality Score 177
Status Validated
Chromosome 11
Chromosomal Location 53755368-53782486 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 53764559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 296 (I296F)
Ref Sequence ENSEMBL: ENSMUSP00000019044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019044] [ENSMUST00000136307] [ENSMUST00000152084]
AlphaFold Q9Z0E8
Predicted Effect probably damaging
Transcript: ENSMUST00000019044
AA Change: I296F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019044
Gene: ENSMUSG00000018900
AA Change: I296F

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
Meta Mutation Damage Score 0.3913 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.9%
  • 20x: 93.8%
Validation Efficiency 96% (86/90)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G T 10: 100,448,762 (GRCm39) R158L possibly damaging Het
1700017N19Rik G A 10: 100,451,070 (GRCm39) M179I probably benign Het
Abhd12 T C 2: 150,681,698 (GRCm39) I231V possibly damaging Het
Adsl A G 15: 80,845,554 (GRCm39) probably null Het
Ahnak C A 19: 8,991,131 (GRCm39) N4138K possibly damaging Het
Ahnak T C 19: 8,995,575 (GRCm39) S5620P probably damaging Het
Akap13 C T 7: 75,378,894 (GRCm39) T2145I probably damaging Het
Alpk2 T A 18: 65,440,694 (GRCm39) Q700L probably damaging Het
Apobec1 T C 6: 122,557,732 (GRCm39) Y159C probably damaging Het
Atg9a T C 1: 75,162,916 (GRCm39) T395A probably damaging Het
Atp6v1f A G 6: 29,467,957 (GRCm39) I48V probably benign Het
BC051665 A C 13: 60,930,518 (GRCm39) V278G probably damaging Het
Bicd1 A T 6: 149,415,201 (GRCm39) H638L probably damaging Het
Cacna2d4 A G 6: 119,251,192 (GRCm39) Y460C probably damaging Het
Ccdc157 C A 11: 4,094,538 (GRCm39) R496L probably benign Het
Cdcp3 T G 7: 130,843,696 (GRCm39) probably null Het
Cep44 C G 8: 56,994,056 (GRCm39) V174L probably damaging Het
Clca3a1 G T 3: 144,722,522 (GRCm39) F283L possibly damaging Het
Csk T C 9: 57,537,585 (GRCm39) T110A probably benign Het
Cspg4 T A 9: 56,792,506 (GRCm39) probably null Het
Cutc A G 19: 43,748,468 (GRCm39) I124V probably benign Het
Cyp2d9 A G 15: 82,339,725 (GRCm39) T104A probably benign Het
Cyp2j9 G T 4: 96,465,951 (GRCm39) T294K probably benign Het
D630003M21Rik T A 2: 158,046,577 (GRCm39) probably null Het
Dcaf15 G T 8: 84,825,081 (GRCm39) F450L probably damaging Het
Ddhd1 A T 14: 45,840,125 (GRCm39) I723K probably damaging Het
Dnah17 C T 11: 118,005,039 (GRCm39) A782T probably benign Het
Dnah3 T C 7: 119,677,724 (GRCm39) D399G probably benign Het
Dync2h1 T C 9: 7,148,717 (GRCm39) N909S probably benign Het
Erbin A G 13: 103,975,813 (GRCm39) probably null Het
Fanci G A 7: 79,083,069 (GRCm39) V682I probably benign Het
Fap A T 2: 62,403,847 (GRCm39) F9L probably benign Het
Fat3 T C 9: 15,849,757 (GRCm39) I3882V probably benign Het
Fkbp15 A T 4: 62,244,294 (GRCm39) probably null Het
Fsd2 T C 7: 81,186,975 (GRCm39) Y601C probably damaging Het
Gm5900 T C 7: 104,599,468 (GRCm39) noncoding transcript Het
Gramd4 G T 15: 85,984,985 (GRCm39) G82V probably damaging Het
Hc C T 2: 34,887,449 (GRCm39) V1352I probably benign Het
Hsph1 A T 5: 149,548,623 (GRCm39) N466K probably damaging Het
Ice2 T A 9: 69,315,544 (GRCm39) D133E probably benign Het
Ifi213 T C 1: 173,396,545 (GRCm39) M510V probably benign Het
Itpkb T G 1: 180,248,880 (GRCm39) L861R probably damaging Het
Kbtbd3 T A 9: 4,330,476 (GRCm39) D283E probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Masp1 T A 16: 23,310,677 (GRCm39) I252F probably damaging Het
Megf11 G T 9: 64,593,246 (GRCm39) C586F probably damaging Het
Myh2 C A 11: 67,083,545 (GRCm39) A1476E possibly damaging Het
Myo18b A T 5: 112,950,196 (GRCm39) probably null Het
Naip6 A T 13: 100,435,829 (GRCm39) V898E possibly damaging Het
Nav1 T C 1: 135,512,884 (GRCm39) M59V probably benign Het
Nlrp3 A T 11: 59,437,678 (GRCm39) Y119F probably benign Het
Oxa1l T A 14: 54,600,758 (GRCm39) I77N possibly damaging Het
Pcdhb8 T A 18: 37,490,537 (GRCm39) D738E possibly damaging Het
Pdia5 A T 16: 35,243,335 (GRCm39) W269R probably damaging Het
Peak1 T A 9: 56,114,622 (GRCm39) T1440S probably benign Het
Piezo1 A G 8: 123,214,682 (GRCm39) V1547A probably benign Het
Pkp1 T C 1: 135,810,259 (GRCm39) Y437C probably damaging Het
Pla2r1 T C 2: 60,253,104 (GRCm39) D1329G probably damaging Het
Ppip5k2 T C 1: 97,671,887 (GRCm39) probably benign Het
Prrg4 C T 2: 104,675,378 (GRCm39) S75N probably benign Het
Psmb9 T A 17: 34,401,266 (GRCm39) I198F probably damaging Het
Rcbtb2 T A 14: 73,399,405 (GRCm39) L23* probably null Het
Sbno1 A T 5: 124,524,854 (GRCm39) probably benign Het
Scn3a T C 2: 65,345,039 (GRCm39) E483G probably damaging Het
Sdccag8 T A 1: 176,652,388 (GRCm39) D46E probably benign Het
Selenov A G 7: 27,987,579 (GRCm39) F293L probably damaging Het
Septin2 A C 1: 93,407,023 (GRCm39) D20A probably benign Het
Shc1 T A 3: 89,334,274 (GRCm39) Y313* probably null Het
Siglec1 T A 2: 130,915,553 (GRCm39) Y1346F probably damaging Het
Slc9c1 A G 16: 45,365,123 (GRCm39) N152S probably damaging Het
Smoc1 C T 12: 81,151,531 (GRCm39) R83* probably null Het
Ssx2ip A G 3: 146,133,586 (GRCm39) D227G possibly damaging Het
Tbrg4 T C 11: 6,567,372 (GRCm39) D576G probably damaging Het
Tbx20 T A 9: 24,670,155 (GRCm39) Y226F probably damaging Het
Trav10d G T 14: 53,048,929 (GRCm39) A107S probably damaging Het
Trim60 A T 8: 65,453,016 (GRCm39) L411* probably null Het
Ttbk2 A T 2: 120,575,521 (GRCm39) V1083D probably benign Het
Unc93a T A 17: 13,344,464 (GRCm39) Q26L probably damaging Het
Usp14 T A 18: 10,022,819 (GRCm39) N65I possibly damaging Het
Vip A T 10: 5,593,988 (GRCm39) S114C probably damaging Het
Vmn1r237 A T 17: 21,534,813 (GRCm39) I179F probably damaging Het
Wdr47 T A 3: 108,545,201 (GRCm39) probably null Het
Zfp975 A T 7: 42,311,963 (GRCm39) C217S 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
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
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
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'- TTAACACCCCTTGCCTTAGG -3'
(R):5'- TACCTCAGGTAGTTACTGGGC -3'

Sequencing Primer
(F):5'- CTTAGGGGTGGCCATGGC -3'
(R):5'- TTCTGGCTTATGAACACCAGAC -3'
Posted On 2017-02-15