Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02063:Slc22a5'

185520

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 #

IGL02063

Quality Score

Status

Chromosome

Chromosomal Location

53755368-53782486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53765899 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 229 (I229K)

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: I229K

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019044
Gene: ENSMUSG00000018900
AA Change: I229K

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

possibly damaging
Transcript: ENSMUST00000136307
AA Change: Y143N

PolyPhen 2 Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118900
Gene: ENSMUSG00000018900
AA Change: Y143N

Domain	Start	End	E-Value	Type
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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	A	G	12: 105,614,581 (GRCm39)	Y1117H	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,480 (GRCm39)	R24G	probably damaging	Het
BC005624	A	G	2: 30,868,946 (GRCm39)	M76T	probably benign	Het
Blm	G	T	7: 80,159,167 (GRCm39)	S323*	probably null	Het
Card19	C	A	13: 49,356,607 (GRCm39)	G181*	probably null	Het
Cilp2	T	C	8: 70,335,515 (GRCm39)	I494M	probably damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Col6a4	T	C	9: 105,934,617 (GRCm39)	D1431G	probably benign	Het
Cped1	G	A	6: 22,138,701 (GRCm39)	C560Y	probably damaging	Het
Cyfip1	T	C	7: 55,576,096 (GRCm39)	S1091P	probably damaging	Het
Ddx24	A	G	12: 103,384,461 (GRCm39)	I466T	probably damaging	Het
Dlg2	T	A	7: 91,459,684 (GRCm39)		probably benign	Het
Esf1	C	A	2: 140,006,377 (GRCm39)	D257Y	possibly damaging	Het
Fgfr2	A	G	7: 129,769,485 (GRCm39)	F634S	probably damaging	Het
Flywch2	A	G	17: 23,996,081 (GRCm39)		probably benign	Het
Gbp10	A	T	5: 105,383,906 (GRCm39)	I32N	possibly damaging	Het
Gli3	A	G	13: 15,900,957 (GRCm39)	D1448G	possibly damaging	Het
Gm10335	T	C	10: 14,399,147 (GRCm39)		probably benign	Het
Golga5	A	T	12: 102,438,418 (GRCm39)	E44D	probably benign	Het
H2-M10.1	C	T	17: 36,634,901 (GRCm39)		probably benign	Het
Ino80b	A	T	6: 83,101,143 (GRCm39)	D141E	probably damaging	Het
Itpr3	A	G	17: 27,338,997 (GRCm39)	I2593V	probably benign	Het
Krt73	C	T	15: 101,704,204 (GRCm39)		probably benign	Het
Loxl4	G	T	19: 42,596,778 (GRCm39)	L78I	probably benign	Het
Mbd5	A	T	2: 49,164,779 (GRCm39)	N360I	probably damaging	Het
Nfat5	A	T	8: 108,088,450 (GRCm39)	M495L	probably benign	Het
Nrxn3	A	T	12: 88,762,565 (GRCm39)	E204V	possibly damaging	Het
Or8k21	G	T	2: 86,145,137 (GRCm39)	F164L	possibly damaging	Het
Paqr4	A	T	17: 23,958,886 (GRCm39)	C38*	probably null	Het
Pcdhb13	T	A	18: 37,577,282 (GRCm39)	N553K	probably damaging	Het
Pcdhb9	T	A	18: 37,534,810 (GRCm39)	M268K	probably benign	Het
Pdap1	A	T	5: 145,071,869 (GRCm39)		probably benign	Het
Phf2	A	T	13: 48,975,118 (GRCm39)	Y281N	unknown	Het
Phka2	T	A	X: 159,347,209 (GRCm39)	I664N	possibly damaging	Het
Plekha7	A	T	7: 115,739,936 (GRCm39)	D762E	possibly damaging	Het
Plekhg4	T	A	8: 106,105,884 (GRCm39)		probably benign	Het
Ppfia2	A	T	10: 106,740,706 (GRCm39)	Q1006L	probably null	Het
Pramel12	C	A	4: 143,144,421 (GRCm39)	Q256K	probably benign	Het
Prmt5	G	A	14: 54,748,477 (GRCm39)	Q197*	probably null	Het
Prodh	A	T	16: 17,897,049 (GRCm39)		probably null	Het
Ptgr3	T	A	18: 84,113,390 (GRCm39)	Y355*	probably null	Het
Rnft2	A	G	5: 118,380,587 (GRCm39)		probably benign	Het
Rp1l1	G	T	14: 64,266,985 (GRCm39)	S857I	probably damaging	Het
Samd9l	A	G	6: 3,372,992 (GRCm39)	F1423S	probably damaging	Het
Scn3a	A	G	2: 65,291,854 (GRCm39)	Y1631H	probably damaging	Het
Slco1a7	T	C	6: 141,684,615 (GRCm39)	D280G	probably benign	Het
Snd1	T	A	6: 28,526,220 (GRCm39)		probably benign	Het
Srrm1	G	T	4: 135,074,518 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,874 (GRCm39)	V5252A	probably damaging	Het
Tek	A	G	4: 94,627,882 (GRCm39)	D2G	probably benign	Het
Uba1	T	C	X: 20,545,964 (GRCm39)	S803P	probably damaging	Het
Uggt2	A	G	14: 119,326,605 (GRCm39)	I202T	possibly damaging	Het
Umodl1	A	T	17: 31,206,888 (GRCm39)	I760F	probably benign	Het
Vgll1	A	G	X: 56,144,569 (GRCm39)		probably benign	Het
Zfp236	A	G	18: 82,676,276 (GRCm39)	V347A	probably benign	Het
Zswim9	T	C	7: 12,994,608 (GRCm39)	E516G	probably 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
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
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

2014-05-07