Mutagenetix > Incidental Mutation

Incidental Mutation 'R6369:Slc22a5'

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

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

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: N57T

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000118900
Gene: ENSMUSG00000018900
AA Change: N57T

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

Meta Mutation Damage Score

0.2245

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
(F):5'- AGACGTCCTTGTCGTACTCC -3'
(R):5'- TAGTTCTGAGTCCTAGCTCGGC -3'

Sequencing Primer
(F):5'- GTCGTACTCCCAGCCATCCAG -3'
(R):5'- CCTCAGGCCCTATGTAAAGTTGG -3'

Posted On

2018-04-27