Mutagenetix > Incidental Mutation

Incidental Mutation 'R9314:Slc22a5'

705794

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9314 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53755368-53782486 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53762487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 320 (D320G)

Ref Sequence

ENSEMBL: ENSMUSP00000019044 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019044] [ENSMUST00000136307] [ENSMUST00000152084]

AlphaFold

Q9Z0E8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019044
AA Change: D320G

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019044
Gene: ENSMUSG00000018900
AA Change: D320G

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 damaging
Transcript: ENSMUST00000152084
AA Change: D6G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	C	17: 24,547,593 (GRCm39)	N260K	possibly damaging	Het
Anapc1	G	A	2: 128,464,420 (GRCm39)	S1692L	possibly damaging	Het
Brca2	A	G	5: 150,474,359 (GRCm39)	R2421G	probably damaging	Het
Cad	A	G	5: 31,234,988 (GRCm39)	Y2143C	probably damaging	Het
Calr3	T	A	8: 73,178,535 (GRCm39)	D356V	possibly damaging	Het
Cd207	T	A	6: 83,652,699 (GRCm39)	T144S	probably damaging	Het
Cntln	T	C	4: 84,924,719 (GRCm39)	L608P	probably damaging	Het
Dnah8	A	T	17: 30,990,857 (GRCm39)	Y3300F	probably benign	Het
Emb	T	C	13: 117,408,604 (GRCm39)	I315T	probably damaging	Het
Esr1	T	A	10: 4,916,181 (GRCm39)	V456E	possibly damaging	Het
Evpl	A	T	11: 116,118,503 (GRCm39)	H701Q	probably benign	Het
F5	C	T	1: 164,029,146 (GRCm39)	T1715I	probably benign	Het
Fut10	T	A	8: 31,691,504 (GRCm39)	H116Q	probably damaging	Het
Gm40460	ACAACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,447 (GRCm39)		probably benign	Het
Gm5591	T	C	7: 38,221,884 (GRCm39)	T62A	probably benign	Het
Hectd4	T	C	5: 121,437,708 (GRCm39)		probably null	Het
Ifit1bl1	G	C	19: 34,576,693 (GRCm39)	Q3E	probably benign	Het
Ighg3	A	T	12: 113,323,946 (GRCm39)	D147E		Het
Ighv8-13	A	G	12: 115,728,996 (GRCm39)	V87A	possibly damaging	Het
Kdelr1	A	G	7: 45,531,050 (GRCm39)	T160A	probably benign	Het
Kdm2a	A	G	19: 4,372,510 (GRCm39)	L945P	probably damaging	Het
Krt36	C	T	11: 99,994,227 (GRCm39)	W283*	probably null	Het
Lamp3	T	C	16: 19,492,192 (GRCm39)	M351V	probably benign	Het
Lox	C	G	18: 52,653,911 (GRCm39)	R395P	probably damaging	Het
Lrrtm3	T	C	10: 63,925,499 (GRCm39)		probably benign	Het
Madcam1	C	A	10: 79,501,481 (GRCm39)	T182K	probably damaging	Het
Megf8	T	A	7: 25,029,297 (GRCm39)	H280Q	probably damaging	Het
Mrgprb5	A	G	7: 47,818,174 (GRCm39)	I187T	probably benign	Het
Muc1	T	C	3: 89,138,825 (GRCm39)	V478A	probably damaging	Het
Mug1	T	G	6: 121,834,296 (GRCm39)	V359G	probably damaging	Het
Myh4	A	G	11: 67,151,141 (GRCm39)	H1932R	probably benign	Het
Naaladl1	A	C	19: 6,162,401 (GRCm39)	N448H	probably damaging	Het
Or52b1	A	T	7: 104,979,081 (GRCm39)	I106N	probably damaging	Het
Or5a1	C	T	19: 12,097,144 (GRCm39)	E311K	probably benign	Het
Pkd1l1	A	T	11: 8,829,153 (GRCm39)	Y1480N		Het
Poll	T	C	19: 45,547,091 (GRCm39)	E127G	probably benign	Het
Ppl	T	C	16: 4,922,367 (GRCm39)	N305S	possibly damaging	Het
Prss53	A	G	7: 127,490,039 (GRCm39)	V17A	probably benign	Het
Ptprj	A	G	2: 90,301,631 (GRCm39)	V74A	possibly damaging	Het
Rapgef4	A	T	2: 72,064,983 (GRCm39)	H804L	possibly damaging	Het
Rassf8	A	G	6: 145,762,296 (GRCm39)	T356A	probably damaging	Het
Rptor	T	C	11: 119,786,772 (GRCm39)	S1246P	probably benign	Het
Setdb2	A	T	14: 59,650,240 (GRCm39)	I458N	probably benign	Het
Sgtb	A	G	13: 104,254,933 (GRCm39)	K68E	possibly damaging	Het
Slc19a3	T	G	1: 83,000,094 (GRCm39)	I308L	possibly damaging	Het
Slc34a2	T	C	5: 53,218,143 (GRCm39)	S141P	possibly damaging	Het
Slc37a2	T	C	9: 37,150,482 (GRCm39)	T158A	possibly damaging	Het
Slc7a1	T	C	5: 148,269,327 (GRCm39)	I598V	probably benign	Het
Sphk2	T	C	7: 45,361,158 (GRCm39)	D282G	probably damaging	Het
Spty2d1	G	T	7: 46,648,486 (GRCm39)	P148T	probably damaging	Het
Supt3	A	G	17: 45,352,250 (GRCm39)	T310A	probably benign	Het
Supt5	T	A	7: 28,019,799 (GRCm39)	D457V	probably damaging	Het
Svep1	C	T	4: 58,070,347 (GRCm39)	G2480R	probably damaging	Het
Tbcd	T	C	11: 121,487,297 (GRCm39)	V803A	probably benign	Het
Tex2	A	T	11: 106,435,075 (GRCm39)	C784S	unknown	Het
Thrb	A	G	14: 17,963,208 (GRCm38)	H57R	probably benign	Het
Tmc4	T	C	7: 3,679,723 (GRCm39)	T34A	possibly damaging	Het
Tmprss2	T	C	16: 97,400,459 (GRCm39)	N4S	probably benign	Het
Trank1	A	G	9: 111,195,049 (GRCm39)	I1024M	probably damaging	Het
Trnau1ap	C	A	4: 132,056,697 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,566,710 (GRCm39)	V28061A	probably damaging	Het
Txnl4b	C	A	8: 110,299,331 (GRCm39)	P97Q	probably benign	Het
Ube4a	T	C	9: 44,854,023 (GRCm39)	T573A	probably benign	Het
Vit	A	T	17: 78,927,044 (GRCm39)	T330S	probably benign	Het
Wdr3	T	C	3: 100,050,288 (GRCm39)	I750V	probably benign	Het
Zfp59	C	T	7: 27,554,029 (GRCm39)	L494F	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TTGTATCTGCGATGACAGAGGTTTC -3'
(R):5'- TGTCCTTGACTAAGCCTGCAG -3'

Sequencing Primer
(F):5'- CGATGACAGAGGTTTCAGCTTTG -3'
(R):5'- GCCTTGGACATCCCCTTGAG -3'

Posted On

2022-03-25