Incidental Mutation 'R6369:Slc22a5'
ID 512861
Institutional Source Beutler Lab
Gene Symbol Slc22a5
Ensembl Gene ENSMUSG00000018900
Gene Name solute carrier family 22 (organic cation transporter), member 5
Synonyms Lstpl, Octn2
MMRRC Submission 044519-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6369 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 53864542-53891660 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 53891370 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 57 (N57T)
Ref Sequence ENSEMBL: ENSMUSP00000019044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019044] [ENSMUST00000136307]
AlphaFold Q9Z0E8
Predicted Effect probably damaging
Transcript: ENSMUST00000019044
AA Change: N57T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019044
Gene: ENSMUSG00000018900
AA Change: N57T

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
AA Change: N57T

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118900
Gene: ENSMUSG00000018900
AA Change: N57T

transmembrane domain 20 42 N/A INTRINSIC
Meta Mutation Damage Score 0.2245 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (54/55)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn C T 17: 13,835,343 (GRCm38) R571* probably null Het
Asb18 A T 1: 90,014,471 (GRCm38) I36N probably damaging Het
Ascc3 G A 10: 50,699,985 (GRCm38) G779S probably damaging Het
Atl2 T C 17: 79,854,555 (GRCm38) Q205R probably damaging Het
Axdnd1 A G 1: 156,392,745 (GRCm38) I235T probably damaging Het
Bri3bp A G 5: 125,454,701 (GRCm38) N237S probably damaging Het
Ccdc191 A G 16: 43,915,485 (GRCm38) N256S probably benign Het
Cchcr1 T C 17: 35,528,176 (GRCm38) I474T probably damaging Het
Cd209c T C 8: 3,944,984 (GRCm38) Y60C probably damaging Het
Cd300c C A 11: 114,957,555 (GRCm38) D171Y probably damaging Het
Crb1 C T 1: 139,237,462 (GRCm38) V975M probably damaging Het
Csmd1 C T 8: 17,535,004 (GRCm38) probably benign Het
Ctnna2 A G 6: 76,980,695 (GRCm38) S524P possibly damaging Het
Eno1 T C 4: 150,239,568 (GRCm38) probably null Het
Ero1l T C 14: 45,299,958 (GRCm38) I170M probably damaging Het
Fam186a A G 15: 99,947,331 (GRCm38) M344T unknown Het
Frem1 A T 4: 82,913,792 (GRCm38) probably null Het
Gjb5 G T 4: 127,355,930 (GRCm38) D140E possibly damaging Het
Gm11595 G A 11: 99,772,555 (GRCm38) R100C unknown Het
Hk2 G T 6: 82,736,753 (GRCm38) S449R probably damaging Het
Hs3st3a1 A T 11: 64,520,601 (GRCm38) I322F probably benign Het
Itga1 T C 13: 114,965,660 (GRCm38) I1145V probably damaging Het
Kcp A G 6: 29,484,694 (GRCm38) L1295S probably damaging Het
Macf1 T C 4: 123,410,562 (GRCm38) D49G possibly damaging Het
Mef2b T A 8: 70,165,559 (GRCm38) D96E probably benign Het
Megf10 A T 18: 57,261,187 (GRCm38) D461V probably benign Het
Myom1 T C 17: 71,101,076 (GRCm38) S1104P probably damaging Het
Nab1 A G 1: 52,490,222 (GRCm38) L172P probably damaging Het
Olfr123 T G 17: 37,795,496 (GRCm38) D17E probably benign Het
Pate1 A G 9: 35,687,028 (GRCm38) V18A probably benign Het
Pink1 T C 4: 138,320,734 (GRCm38) probably null Het
Pnpla1 T A 17: 28,878,481 (GRCm38) I207N probably damaging Het
Ppp1r12b T C 1: 134,886,542 (GRCm38) E341G possibly damaging Het
Ppp1r21 C A 17: 88,582,412 (GRCm38) probably null Het
Rad52 A G 6: 119,914,207 (GRCm38) E76G unknown Het
Rad54l A G 4: 116,111,189 (GRCm38) probably null Het
Rasgrf2 T C 13: 92,131,446 (GRCm38) M17V probably benign Het
Rbm42 A G 7: 30,641,313 (GRCm38) M411T unknown Het
Reln A G 5: 22,051,361 (GRCm38) I495T probably benign Het
Rnf224 A G 2: 25,235,942 (GRCm38) F133S probably damaging Het
Rrm1 C A 7: 102,446,702 (GRCm38) H87Q probably damaging Het
Sec14l2 T C 11: 4,103,962 (GRCm38) D235G possibly damaging Het
Serpinb3d G T 1: 107,080,753 (GRCm38) N127K probably benign Het
Skint7 A T 4: 111,980,293 (GRCm38) E89D probably benign Het
Smarcd3 A T 5: 24,594,984 (GRCm38) F263I probably damaging Het
Sncaip A G 18: 52,868,604 (GRCm38) I66V probably damaging Het
Syngr1 A C 15: 80,115,590 (GRCm38) probably benign Het
Tbc1d2 A G 4: 46,614,420 (GRCm38) Y554H probably benign Het
Tmem198 T C 1: 75,479,743 (GRCm38) V44A probably benign Het
Trappc11 T C 8: 47,512,285 (GRCm38) probably null Het
Uox C T 3: 146,624,577 (GRCm38) R163* probably null Het
Vmn2r111 C T 17: 22,548,602 (GRCm38) C638Y probably damaging Het
Washc4 A G 10: 83,574,444 (GRCm38) Y632C probably damaging Het
Zfp212 T C 6: 47,930,897 (GRCm38) V270A probably benign Het
Zfp92 G A X: 73,421,968 (GRCm38) R189H possibly damaging Homo
Other mutations in Slc22a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01374:Slc22a5 APN 11 53,867,664 (GRCm38) missense probably benign 0.39
IGL02063:Slc22a5 APN 11 53,875,073 (GRCm38) missense probably damaging 0.99
IGL03008:Slc22a5 APN 11 53,891,232 (GRCm38) missense probably damaging 1.00
IGL03190:Slc22a5 APN 11 53,875,014 (GRCm38) missense probably benign 0.02
R0055:Slc22a5 UTSW 11 53,891,206 (GRCm38) missense probably benign 0.00
R0190:Slc22a5 UTSW 11 53,869,415 (GRCm38) nonsense probably null
R1498:Slc22a5 UTSW 11 53,869,314 (GRCm38) missense probably damaging 1.00
R1729:Slc22a5 UTSW 11 53,866,351 (GRCm38) missense probably damaging 1.00
R1784:Slc22a5 UTSW 11 53,866,351 (GRCm38) missense probably damaging 1.00
R2249:Slc22a5 UTSW 11 53,883,706 (GRCm38) missense possibly damaging 0.73
R3426:Slc22a5 UTSW 11 53,869,326 (GRCm38) missense probably benign 0.03
R3427:Slc22a5 UTSW 11 53,869,326 (GRCm38) missense probably benign 0.03
R3428:Slc22a5 UTSW 11 53,869,326 (GRCm38) missense probably benign 0.03
R3895:Slc22a5 UTSW 11 53,865,825 (GRCm38) missense possibly damaging 0.64
R4582:Slc22a5 UTSW 11 53,891,209 (GRCm38) missense probably damaging 1.00
R4965:Slc22a5 UTSW 11 53,891,526 (GRCm38) missense possibly damaging 0.94
R5898:Slc22a5 UTSW 11 53,873,733 (GRCm38) missense probably damaging 1.00
R6018:Slc22a5 UTSW 11 53,876,020 (GRCm38) missense probably damaging 1.00
R6063:Slc22a5 UTSW 11 53,867,533 (GRCm38) missense possibly damaging 0.79
R6218:Slc22a5 UTSW 11 53,891,618 (GRCm38) unclassified probably benign
R6827:Slc22a5 UTSW 11 53,871,616 (GRCm38) missense possibly damaging 0.92
R7936:Slc22a5 UTSW 11 53,869,389 (GRCm38) missense probably damaging 0.98
R8499:Slc22a5 UTSW 11 53,867,643 (GRCm38) missense probably damaging 1.00
R9081:Slc22a5 UTSW 11 53,871,621 (GRCm38) missense probably damaging 0.99
R9178:Slc22a5 UTSW 11 53,883,721 (GRCm38) missense probably benign 0.00
R9267:Slc22a5 UTSW 11 53,873,793 (GRCm38) missense probably benign 0.01
R9269:Slc22a5 UTSW 11 53,876,155 (GRCm38) missense probably damaging 1.00
R9314:Slc22a5 UTSW 11 53,871,661 (GRCm38) missense possibly damaging 0.95
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-04-27