Mutagenetix > Incidental Mutation

Incidental Mutation 'R8499:Slc22a5'

658428

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

067941-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53755368-53782486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53758469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 444 (S444P)

Ref Sequence

ENSEMBL: ENSMUSP00000019044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019044] [ENSMUST00000152084]

AlphaFold

Q9Z0E8

Predicted Effect

probably damaging
Transcript: ENSMUST00000019044
AA Change: S444P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000019044
Gene: ENSMUSG00000018900
AA Change: S444P

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: ENSMUST00000152084

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,189 (GRCm39)	D485G	probably damaging	Het
Ap4b1	G	A	3: 103,728,018 (GRCm39)	R344Q	probably damaging	Het
Apol7c	G	T	15: 77,410,280 (GRCm39)	P222Q	possibly damaging	Het
Atf6b	T	C	17: 34,869,796 (GRCm39)	L272P	probably damaging	Het
Atp11b	G	T	3: 35,864,854 (GRCm39)	R559I	probably benign	Het
Bhmt	T	A	13: 93,756,600 (GRCm39)	I343F	probably benign	Het
Btbd7	A	T	12: 102,754,631 (GRCm39)	F712I	probably damaging	Het
Card14	T	C	11: 119,222,070 (GRCm39)	L455P	probably benign	Het
Cast	A	T	13: 74,946,835 (GRCm39)	H26Q	probably benign	Het
Clcn1	A	G	6: 42,284,133 (GRCm39)	N567S	probably damaging	Het
Cnot6l	A	T	5: 96,225,176 (GRCm39)	W506R	probably damaging	Het
Dynap	T	A	18: 70,374,044 (GRCm39)	I161L	unknown	Het
Eif4g3	A	C	4: 137,893,239 (GRCm39)	T996P	probably damaging	Het
Exoc8	A	G	8: 125,623,849 (GRCm39)	Y173H	probably benign	Het
Fbll1	C	T	11: 35,688,907 (GRCm39)	V119M	probably damaging	Het
Fbxw22	A	T	9: 109,214,068 (GRCm39)	F249L	probably benign	Het
Fxyd1	C	A	7: 30,752,529 (GRCm39)		probably benign	Het
Grhl3	C	A	4: 135,276,549 (GRCm39)		probably null	Het
Grk4	A	G	5: 34,902,690 (GRCm39)	E414G	possibly damaging	Het
H2bc8	T	A	13: 23,755,880 (GRCm39)	S92T	probably benign	Het
H2-Q5	A	G	17: 35,613,820 (GRCm39)	D123G		Het
H2-Q5	C	T	17: 35,613,945 (GRCm39)	R165*	probably null	Het
Hgf	A	T	5: 16,771,854 (GRCm39)	E160D	probably damaging	Het
Ifi211	T	C	1: 173,733,086 (GRCm39)	I192V	probably benign	Het
Klk1b22	T	C	7: 43,762,144 (GRCm39)	F7L	probably benign	Het
Lcmt1	C	A	7: 123,029,371 (GRCm39)	T331N	probably benign	Het
Lrrc36	A	T	8: 106,176,168 (GRCm39)	T181S	possibly damaging	Het
Ltbp3	T	A	19: 5,798,712 (GRCm39)	S520T	probably benign	Het
Nacc1	A	T	8: 85,403,345 (GRCm39)	C177S	probably damaging	Het
Nedd4l	T	A	18: 65,342,728 (GRCm39)	V888E	probably damaging	Het
Oc90	C	T	15: 65,753,405 (GRCm39)	G305S	probably damaging	Het
Or51a25	A	G	7: 102,372,932 (GRCm39)	V255A	probably damaging	Het
Or52i2	T	A	7: 102,320,012 (GRCm39)	I295N	probably damaging	Het
Pappa2	T	A	1: 158,764,092 (GRCm39)	D473V	probably damaging	Het
Pou2f2	C	A	7: 24,799,623 (GRCm39)	G117C	probably damaging	Het
Prkci	A	G	3: 31,079,366 (GRCm39)	H68R	probably damaging	Het
Pygm	A	G	19: 6,440,392 (GRCm39)	K479E	probably damaging	Het
Qpct	A	G	17: 79,384,996 (GRCm39)	D212G	probably damaging	Het
Sh3glb2	A	T	2: 30,249,216 (GRCm39)	M1K	probably null	Het
Snai3	G	A	8: 123,183,144 (GRCm39)	H134Y	probably benign	Het
Synpo	T	C	18: 60,736,044 (GRCm39)	D395G	probably damaging	Het
Tmem63c	C	T	12: 87,119,738 (GRCm39)	T344I	probably damaging	Het
Tnfsf14	A	G	17: 57,497,534 (GRCm39)	Y233H		Het
Ttn	A	G	2: 76,749,335 (GRCm39)	F3905L	probably benign	Het
Tubgcp5	T	A	7: 55,454,363 (GRCm39)	H219Q	possibly damaging	Het
Usp16	C	T	16: 87,271,536 (GRCm39)	T364M	possibly damaging	Het
Vmn1r59	C	T	7: 5,457,750 (GRCm39)	M3I	probably benign	Het
Vmn2r61	T	A	7: 41,949,700 (GRCm39)	C707S	probably damaging	Het
Vps13b	T	C	15: 35,841,466 (GRCm39)	S2499P	probably damaging	Het
Ythdf3	A	G	3: 16,259,179 (GRCm39)	E442G	possibly damaging	Het
Zfp1001	T	C	2: 150,204,907 (GRCm39)	S74P	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
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
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'- AGGCTACTTAGAGCTTCTGTCC -3'
(R):5'- ACATGAAGTGCCCTGTCTCC -3'

Sequencing Primer
(F):5'- CCATCCTCCAGTGCACCATG -3'
(R):5'- CTCCTTTAAGAAGTCTTAGCCATGTG -3'

Posted On

2021-01-18