Mutagenetix > Incidental Mutation

Incidental Mutation 'R1498:Slc22a5'

169058

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

039549-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1498 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53755368-53782486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53760140 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 392 (L392Q)

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: L392Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019044
Gene: ENSMUSG00000018900
AA Change: L392Q

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

probably benign
Transcript: ENSMUST00000136307

SMART Domains

Protein: ENSMUSP00000118900
Gene: ENSMUSG00000018900

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152084

Meta Mutation Damage Score

0.7489

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (83/86)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,374,627 (GRCm39)	S799P	probably benign	Het
Acvr1b	T	C	15: 101,091,891 (GRCm39)	F57S	probably benign	Het
Adamts5	T	A	16: 85,696,990 (GRCm39)	T56S	possibly damaging	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Agr3	A	T	12: 35,984,379 (GRCm39)		probably null	Het
Ankrd6	A	G	4: 32,810,289 (GRCm39)	M405T	probably benign	Het
Aoc1l2	A	G	6: 48,908,305 (GRCm39)	H435R	probably benign	Het
Aqp5	T	C	15: 99,491,128 (GRCm39)	I60T	probably damaging	Het
Arf5	G	T	6: 28,426,153 (GRCm39)	R180L	probably benign	Het
Asap3	A	G	4: 135,966,505 (GRCm39)	N528D	probably benign	Het
Atmin	G	A	8: 117,681,540 (GRCm39)	E180K	probably benign	Het
Bcl11a	A	T	11: 24,114,005 (GRCm39)	E449D	probably damaging	Het
Cep128	A	T	12: 91,333,191 (GRCm39)	F25I	probably benign	Het
Cfp	GCAC	GC	X: 20,795,905 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,312,966 (GRCm39)	Y282F	possibly damaging	Het
Cul7	A	G	17: 46,966,636 (GRCm39)	D355G	probably benign	Het
Daxx	T	C	17: 34,131,227 (GRCm39)	Y385H	probably damaging	Het
Dnah2	A	C	11: 69,411,493 (GRCm39)		probably null	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Erc2	T	A	14: 28,024,855 (GRCm39)	M578K	probably benign	Het
Evc	T	A	5: 37,481,044 (GRCm39)	H267L	possibly damaging	Het
Exosc10	A	C	4: 148,666,243 (GRCm39)	Q837P	possibly damaging	Het
Fasn	G	A	11: 120,706,245 (GRCm39)	T1033I	probably damaging	Het
Fat1	C	A	8: 45,478,521 (GRCm39)	Y2522*	probably null	Het
Fbxw8	G	A	5: 118,203,850 (GRCm39)		probably benign	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Grm6	G	A	11: 50,748,083 (GRCm39)	V398M	probably damaging	Het
Gtpbp1	T	A	15: 79,603,222 (GRCm39)		probably null	Het
Hnf1a	A	G	5: 115,108,596 (GRCm39)	V103A	probably damaging	Het
Hsp90aa1	A	T	12: 110,662,122 (GRCm39)		probably null	Het
Iqgap2	C	T	13: 95,783,313 (GRCm39)	V1288I	probably benign	Het
Irx5	A	G	8: 93,086,514 (GRCm39)	D199G	probably damaging	Het
Klrh1	A	G	6: 129,748,703 (GRCm39)	S105P	probably damaging	Het
Krt9	G	T	11: 100,079,195 (GRCm39)	C732*	probably null	Het
Lifr	T	C	15: 7,220,099 (GRCm39)	S910P	probably damaging	Het
Lrig1	G	A	6: 94,604,968 (GRCm39)	A209V	possibly damaging	Het
Lrrk1	T	A	7: 65,952,419 (GRCm39)	R506*	probably null	Het
Lyst	T	A	13: 13,824,960 (GRCm39)	I1525K	possibly damaging	Het
Mad2l1	C	T	6: 66,516,826 (GRCm39)	Q173*	probably null	Het
Mcoln1	T	A	8: 3,562,861 (GRCm39)	I524N	probably damaging	Het
Mmp3	A	T	9: 7,446,967 (GRCm39)	D49V	possibly damaging	Het
Morc3	A	T	16: 93,650,743 (GRCm39)	N321I	probably damaging	Het
Mrpl48	T	C	7: 100,195,695 (GRCm39)		probably benign	Het
Myo6	T	A	9: 80,214,961 (GRCm39)	D1231E	probably damaging	Het
Nlrc4	A	G	17: 74,753,408 (GRCm39)	I325T	probably benign	Het
Or1j19	A	T	2: 36,677,358 (GRCm39)	I274F	probably damaging	Het
Or2ag17	T	C	7: 106,389,623 (GRCm39)	Y195C	possibly damaging	Het
Or4f61	A	T	2: 111,922,938 (GRCm39)	M36K	probably benign	Het
Or8c16	C	G	9: 38,130,676 (GRCm39)	P183A	probably damaging	Het
Or8k32	A	G	2: 86,368,902 (GRCm39)	V117A	probably benign	Het
Parvg	T	A	15: 84,218,832 (GRCm39)	S230T	possibly damaging	Het
Pcca	T	C	14: 122,854,230 (GRCm39)	I118T	probably damaging	Het
Pde6a	A	G	18: 61,365,932 (GRCm39)	N219S	possibly damaging	Het
Phldb1	G	T	9: 44,612,915 (GRCm39)	P935Q	possibly damaging	Het
Plppr5	T	C	3: 117,456,261 (GRCm39)	S261P	probably damaging	Het
Ppl	T	C	16: 4,922,629 (GRCm39)	N260S	probably benign	Het
Ppp1r3e	A	T	14: 55,113,882 (GRCm39)	H263Q	probably benign	Het
Ppp3cb	T	C	14: 20,559,567 (GRCm39)		probably null	Het
Ppt2	A	T	17: 34,842,075 (GRCm39)	D185E	probably benign	Het
Prr27	A	T	5: 87,998,600 (GRCm39)		probably benign	Het
Ptcd3	A	T	6: 71,870,479 (GRCm39)	V327E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rtp1	A	T	16: 23,249,970 (GRCm39)	M112L	probably benign	Het
Slc6a7	A	G	18: 61,129,764 (GRCm39)	I614T	probably benign	Het
Slu7	C	A	11: 43,329,044 (GRCm39)	P89T	possibly damaging	Het
Smarcc2	T	C	10: 128,318,061 (GRCm39)	V618A	probably benign	Het
Sorl1	C	T	9: 41,952,369 (GRCm39)	R729Q	probably damaging	Het
Sptbn2	T	C	19: 4,794,274 (GRCm39)	F1493L	possibly damaging	Het
Sulf1	C	T	1: 12,918,574 (GRCm39)	T66I	probably damaging	Het
Tgtp2	A	G	11: 48,950,165 (GRCm39)	Y136H	probably damaging	Het
Tmem117	T	C	15: 94,536,242 (GRCm39)	F92S	probably damaging	Het
Tmprss9	T	A	10: 80,730,934 (GRCm39)	V820E	probably benign	Het
Tpcn2	A	G	7: 144,822,648 (GRCm39)	Y266H	probably damaging	Het
Trat1	A	G	16: 48,555,304 (GRCm39)	S143P	probably benign	Het
Vmn1r49	T	A	6: 90,049,298 (GRCm39)	R235W	probably damaging	Het
Vmn1r71	A	T	7: 10,482,575 (GRCm39)	C38S	probably benign	Het
Vmn2r6	T	A	3: 64,463,890 (GRCm39)	T315S	probably damaging	Het
Wdr36	A	G	18: 32,986,021 (GRCm39)	D575G	possibly damaging	Het
Zfp292	G	T	4: 34,805,397 (GRCm39)	A2549E	possibly damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp648	T	A	1: 154,081,119 (GRCm39)	I426N	probably damaging	Het
Zfp87	T	C	13: 74,520,736 (GRCm39)	N114S	probably benign	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACTAGGAACAGGCTCCATGCAGAC -3'
(R):5'- ATGGATGTTGCTGCTCCAGCTCTC -3'

Sequencing Primer
(F):5'- GAACACTCTGGTTTTGTGATACC -3'
(R):5'- AGCTCTCTTCTGTACCCTGTTG -3'

Posted On

2014-04-13