Mutagenetix > Incidental Mutation

Incidental Mutation 'R0055:Slc22a5'

58976

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

038349-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0055 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53755368-53782486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53782032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 112 (S112G)

Ref Sequence

ENSEMBL: ENSMUSP00000019044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019044] [ENSMUST00000136307]

AlphaFold

Q9Z0E8

Predicted Effect

probably benign
Transcript: ENSMUST00000019044
AA Change: S112G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000019044
Gene: ENSMUSG00000018900
AA Change: S112G

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
AA Change: S112G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000118900
Gene: ENSMUSG00000018900
AA Change: S112G

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

Meta Mutation Damage Score

0.0712

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (59/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,547,057 (GRCm39)		probably benign	Het
Atp6v1h	A	T	1: 5,154,677 (GRCm39)	T2S	probably benign	Het
Bcl11b	G	A	12: 107,932,036 (GRCm39)	P179S	probably benign	Het
Cacna1a	C	T	8: 85,306,687 (GRCm39)		probably benign	Het
Ccdc146	C	T	5: 21,502,004 (GRCm39)		probably null	Het
Ccdc61	T	C	7: 18,626,461 (GRCm39)	D128G	probably damaging	Het
Cd55	A	G	1: 130,387,313 (GRCm39)		probably benign	Het
Cdk7	C	A	13: 100,855,812 (GRCm39)	E99*	probably null	Het
Cfap96	A	T	8: 46,421,198 (GRCm39)	S108R	probably damaging	Het
Cox8a	A	T	19: 7,194,874 (GRCm39)	S2T	probably damaging	Het
Cracdl	A	C	1: 37,663,337 (GRCm39)	S854A	probably benign	Het
Dennd5a	A	G	7: 109,498,998 (GRCm39)	I955T	possibly damaging	Het
Dop1a	A	C	9: 86,394,705 (GRCm39)	E602A	probably benign	Het
Ephx4	T	C	5: 107,560,944 (GRCm39)	L32S	probably damaging	Het
Fbxo21	T	A	5: 118,138,555 (GRCm39)	D493E	probably benign	Het
Frmd4b	A	T	6: 97,300,610 (GRCm39)		probably benign	Het
Fzd1	A	T	5: 4,806,037 (GRCm39)	M515K	possibly damaging	Het
Gli2	A	G	1: 118,818,138 (GRCm39)		probably benign	Het
Gm12887	T	A	4: 121,473,666 (GRCm39)	K61N	probably damaging	Het
Grin2a	A	T	16: 9,487,671 (GRCm39)	V409D	probably damaging	Het
Grin2b	T	C	6: 135,900,201 (GRCm39)	I227V	probably benign	Het
Helz2	T	G	2: 180,870,614 (GRCm39)	D2879A	possibly damaging	Het
Itpr2	T	C	6: 146,224,631 (GRCm39)	N1453S	probably benign	Het
Itpr3	C	A	17: 27,317,296 (GRCm39)	S817Y	probably damaging	Het
Lin7c	T	A	2: 109,726,798 (GRCm39)		probably benign	Het
Ly75	T	C	2: 60,152,262 (GRCm39)	E1097G	probably benign	Het
Mcm10	T	C	2: 4,996,218 (GRCm39)	N882D	probably damaging	Het
Mettl13	A	T	1: 162,373,750 (GRCm39)	L167Q	probably damaging	Het
Morn2	A	T	17: 80,602,942 (GRCm39)	M1L	probably benign	Het
Mybph	G	T	1: 134,121,590 (GRCm39)	V88L	probably damaging	Het
Nefm	T	A	14: 68,358,648 (GRCm39)		probably benign	Het
Nf1	A	G	11: 79,362,377 (GRCm39)	E1497G	probably damaging	Het
Or2j3	T	C	17: 38,615,702 (GRCm39)	S217G	possibly damaging	Het
Or4k37	T	A	2: 111,158,870 (GRCm39)	Y35*	probably null	Het
Or51ah3	A	G	7: 103,210,244 (GRCm39)	K187E	probably damaging	Het
Or52e18	T	A	7: 104,609,703 (GRCm39)	T79S	possibly damaging	Het
Phf8-ps	A	T	17: 33,285,696 (GRCm39)	W369R	probably damaging	Het
Plcd3	C	G	11: 102,968,411 (GRCm39)	W382S	probably damaging	Het
Plxna1	T	A	6: 89,306,721 (GRCm39)	I1370F	possibly damaging	Het
Qng1	T	C	13: 58,531,980 (GRCm39)	D192G	probably damaging	Het
Rarb	G	A	14: 16,509,066 (GRCm38)	R106C	probably damaging	Het
Rps6ka5	G	A	12: 100,644,839 (GRCm39)	T37I	probably damaging	Het
Runx1	G	T	16: 92,441,029 (GRCm39)		probably benign	Het
Scube1	A	G	15: 83,518,937 (GRCm39)	V301A	probably damaging	Het
Sema3a	A	T	5: 13,450,004 (GRCm39)	N27I	possibly damaging	Het
Slc15a3	G	T	19: 10,820,406 (GRCm39)	E8*	probably null	Het
Slc25a45	T	C	19: 5,930,495 (GRCm39)	F3L	probably damaging	Het
Slc4a4	A	C	5: 89,304,195 (GRCm39)	H502P	possibly damaging	Het
Slfn10-ps	A	G	11: 82,921,126 (GRCm39)		noncoding transcript	Het
Slit2	C	A	5: 48,439,068 (GRCm39)	C1077*	probably null	Het
Spn	A	G	7: 126,735,494 (GRCm39)	F82L	possibly damaging	Het
Tbccd1	A	G	16: 22,660,655 (GRCm39)	W54R	probably damaging	Het
Ucp1	G	T	8: 84,017,233 (GRCm39)	E8*	probably null	Het
Unc80	A	T	1: 66,545,782 (GRCm39)		probably benign	Het
Vsnl1	A	T	12: 11,436,987 (GRCm39)		probably null	Het
Zdhhc11	C	T	13: 74,130,805 (GRCm39)	Q295*	probably null	Het
Zfp457	T	A	13: 67,442,098 (GRCm39)	H63L	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCTTCAATGGGACCCTATGGACGG -3'
(R):5'- AGCATCATCCCCAATGGCTTCAATG -3'

Sequencing Primer
(F):5'- GCGTACTATGGCTAGAAGTCATCTC -3'
(R):5'- CCCAATGGCTTCAATGGTATG -3'

Posted On

2013-07-11