Mutagenetix > Incidental Mutation

Incidental Mutation 'R7297:Slc27a2'

566715

Institutional Source

Beutler Lab

Gene Symbol

Slc27a2

Ensembl Gene

ENSMUSG00000027359

Gene Name

solute carrier family 27 (fatty acid transporter), member 2

Synonyms

Vlac, VLCS, FATP2, Vlacs, FATP2, ACSVL1

MMRRC Submission

045401-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7297 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126394944-126430163 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126420866 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 452 (D452E)

Ref Sequence

ENSEMBL: ENSMUSP00000057595 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061491] [ENSMUST00000141482]

AlphaFold

O35488

Predicted Effect

probably damaging
Transcript: ENSMUST00000061491
AA Change: D452E

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000057595
Gene: ENSMUSG00000027359
AA Change: D452E

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	41	53	N/A	INTRINSIC
Pfam:AMP-binding	59	488	1.4e-71	PFAM
Pfam:AMP-binding_C	496	572	1.9e-9	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000141482
AA Change: D316E

SMART Domains

Protein: ENSMUSP00000117145
Gene: ENSMUSG00000027359
AA Change: D316E

Domain	Start	End	E-Value	Type
Pfam:AMP-binding	7	256	6.2e-38	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an isozyme of long-chain fatty-acid-coenzyme A ligase family. Although differing in substrate specificity, subcellular localization, and tissue distribution, all isozymes of this family convert free long-chain fatty acids into fatty acyl-CoA esters, and thereby play a key role in lipid biosynthesis and fatty acid degradation. This isozyme activates long-chain, branched-chain and very-long-chain fatty acids containing 22 or more carbons to their CoA derivatives. It is expressed primarily in liver and kidney, and is present in both endoplasmic reticulum and peroxisomes, but not in mitochondria. Its decreased peroxisomal enzyme activity is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2009]
PHENOTYPE: Homozygous mutant mice are viable and show no gross morphological abnormalities. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, knock-out(2) Targeted, other(2) Gene trapped(1)

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	A	G	2: 25,332,088 (GRCm39)	D1400G	probably benign	Het
Abca6	C	T	11: 110,073,852 (GRCm39)		probably null	Het
Adh4	A	G	3: 138,134,901 (GRCm39)	I358M	possibly damaging	Het
Akap6	T	G	12: 52,934,147 (GRCm39)	D546E	probably benign	Het
Arap3	G	A	18: 38,106,616 (GRCm39)	A1409V	possibly damaging	Het
Arhgap22	C	T	14: 32,993,890 (GRCm39)	R68*	probably null	Het
Arhgef4	A	T	1: 34,846,273 (GRCm39)	D207V	probably damaging	Het
Asb15	A	G	6: 24,566,462 (GRCm39)	T472A	probably damaging	Het
Ascl1	A	T	10: 87,328,326 (GRCm39)	S209T	probably damaging	Het
Asxl1	T	C	2: 153,239,355 (GRCm39)	V382A	probably benign	Het
Atp11a	T	C	8: 12,856,774 (GRCm39)		probably null	Het
Calu	C	T	6: 29,356,554 (GRCm39)	R27*	probably null	Het
Cdh20	A	G	1: 104,898,598 (GRCm39)	T442A	probably benign	Het
Chrm3	T	A	13: 9,927,869 (GRCm39)	Q389L	probably benign	Het
Cntnap1	A	G	11: 101,079,460 (GRCm39)	T1233A	probably benign	Het
Cwc15	G	A	9: 14,421,525 (GRCm39)	C197Y	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dennd3	C	T	15: 73,429,459 (GRCm39)	T914I	probably damaging	Het
Dlx3	C	A	11: 95,011,276 (GRCm39)	Y43*	probably null	Het
Dnah17	A	T	11: 117,946,556 (GRCm39)		probably null	Het
Dnah17	A	G	11: 117,994,182 (GRCm39)	F1081S	probably damaging	Het
Dpp10	G	A	1: 123,281,157 (GRCm39)	Q631*	probably null	Het
Dsel	T	A	1: 111,789,506 (GRCm39)	D343V	probably damaging	Het
Efcab12	T	C	6: 115,787,997 (GRCm39)	D655G	possibly damaging	Het
Epha8	T	A	4: 136,673,224 (GRCm39)	I187L	probably damaging	Het
Exosc10	A	G	4: 148,664,834 (GRCm39)	K781E	probably damaging	Het
Exosc5	T	C	7: 25,365,751 (GRCm39)	L200P	probably benign	Het
Faiml	T	C	9: 99,111,666 (GRCm39)	E131G	probably damaging	Het
Gm5145	G	A	17: 20,790,993 (GRCm39)	V124I	probably benign	Het
Grm7	T	C	6: 110,622,974 (GRCm39)	V49A	probably benign	Het
Gtf2e1	T	C	16: 37,356,427 (GRCm39)	D35G	probably damaging	Het
Heatr1	C	T	13: 12,435,941 (GRCm39)	Q1160*	probably null	Het
Herc2	T	A	7: 55,786,406 (GRCm39)	C1584S	probably benign	Het
Hsd17b3	T	C	13: 64,224,165 (GRCm39)	I88V	probably damaging	Het
Hspa14	A	C	2: 3,499,179 (GRCm39)	L205R	possibly damaging	Het
Ifna11	A	C	4: 88,738,662 (GRCm39)	E156A	possibly damaging	Het
Krt87	T	C	15: 101,387,528 (GRCm39)	D170G	probably benign	Het
Mas1	T	C	17: 13,060,745 (GRCm39)	Y226C	probably damaging	Het
Micall1	T	C	15: 79,005,097 (GRCm39)	F190L	unknown	Het
Msi2	A	T	11: 88,370,864 (GRCm39)	L141Q	probably damaging	Het
Nfkbib	T	C	7: 28,465,768 (GRCm39)	D27G	probably benign	Het
Nlrp9b	A	G	7: 19,783,438 (GRCm39)	D927G	possibly damaging	Het
Nrg3	T	C	14: 38,092,896 (GRCm39)	D579G	probably benign	Het
Nutm1	G	A	2: 112,080,401 (GRCm39)	R505C	probably damaging	Het
Or8d1	G	A	9: 38,767,245 (GRCm39)	D296N	probably damaging	Het
Or8h6	A	T	2: 86,703,980 (GRCm39)	V29E	probably damaging	Het
Parp4	C	T	14: 56,885,138 (GRCm39)	P1406S	not run	Het
Pkib	A	T	10: 57,612,422 (GRCm39)	Q101L	possibly damaging	Het
Plat	C	T	8: 23,265,713 (GRCm39)	T252I	probably benign	Het
Ppm1d	A	T	11: 85,236,821 (GRCm39)	E533D	probably damaging	Het
Psd3	T	C	8: 68,573,686 (GRCm39)	K165R	probably damaging	Het
Psg29	T	A	7: 16,944,616 (GRCm39)	Y375*	probably null	Het
Pus7	A	T	5: 23,946,908 (GRCm39)	I644N	probably damaging	Het
Rbbp9	A	T	2: 144,385,722 (GRCm39)	M181K	probably benign	Het
Rell1	A	T	5: 64,093,418 (GRCm39)	N112K	possibly damaging	Het
Simc1	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	13: 54,673,048 (GRCm39)		probably benign	Het
Skint5	G	A	4: 113,400,131 (GRCm39)	T1184M	unknown	Het
Slc44a4	T	A	17: 35,146,888 (GRCm39)	I489N	probably damaging	Het
Slfn14	T	A	11: 83,169,821 (GRCm39)	K608*	probably null	Het
Snx15	T	A	19: 6,170,537 (GRCm39)	I301F	probably damaging	Het
Sost	C	T	11: 101,854,929 (GRCm39)	G127R	probably damaging	Het
Stt3b	A	G	9: 115,106,025 (GRCm39)	I150T	probably damaging	Het
Susd2	T	C	10: 75,478,402 (GRCm39)	D58G	probably benign	Het
Tex46	T	G	4: 136,340,212 (GRCm39)	V99G	probably damaging	Het
Tgfbi	T	A	13: 56,779,926 (GRCm39)	F492I	possibly damaging	Het
Tmem132c	G	A	5: 127,437,281 (GRCm39)	A257T	probably benign	Het
Trim2	A	T	3: 84,117,540 (GRCm39)	I51K	probably damaging	Het
Tsn	A	T	1: 118,228,591 (GRCm39)	Y210*	probably null	Het
Umodl1	G	A	17: 31,227,639 (GRCm39)	R1324H	probably benign	Het
Utp3	G	C	5: 88,702,376 (GRCm39)		probably benign	Het
Vmn1r5	A	T	6: 56,963,204 (GRCm39)	N293I	possibly damaging	Het
Vmn2r124	A	T	17: 18,293,835 (GRCm39)	I641F	probably damaging	Het
Vmn2r84	T	C	10: 130,227,119 (GRCm39)	N240D	probably benign	Het
Wbp1l	A	G	19: 46,642,839 (GRCm39)	D264G	possibly damaging	Het

Other mutations in Slc27a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Slc27a2	APN	2	126,422,837 (GRCm39)	missense	probably damaging	1.00
IGL01907:Slc27a2	APN	2	126,429,794 (GRCm39)	missense	probably benign	0.02
IGL02185:Slc27a2	APN	2	126,409,736 (GRCm39)	missense	probably damaging	0.99
IGL02363:Slc27a2	APN	2	126,420,870 (GRCm39)	missense	possibly damaging	0.58
IGL02451:Slc27a2	APN	2	126,420,912 (GRCm39)	missense	probably benign	0.00
IGL02486:Slc27a2	APN	2	126,395,270 (GRCm39)	missense	probably benign	0.00
IGL03217:Slc27a2	APN	2	126,428,172 (GRCm39)	missense	possibly damaging	0.80
IGL03287:Slc27a2	APN	2	126,395,312 (GRCm39)	missense	probably damaging	1.00
IGL03291:Slc27a2	APN	2	126,406,670 (GRCm39)	missense	probably benign	0.14
baseboard	UTSW	2	126,409,700 (GRCm39)	missense	probably damaging	0.97
B6584:Slc27a2	UTSW	2	126,403,562 (GRCm39)	missense	possibly damaging	0.94
R0021:Slc27a2	UTSW	2	126,409,806 (GRCm39)	splice site	probably benign
R0647:Slc27a2	UTSW	2	126,429,836 (GRCm39)	missense	probably benign	0.00
R1326:Slc27a2	UTSW	2	126,406,690 (GRCm39)	missense	probably damaging	1.00
R1509:Slc27a2	UTSW	2	126,395,234 (GRCm39)	missense	possibly damaging	0.95
R1907:Slc27a2	UTSW	2	126,428,262 (GRCm39)	missense	probably benign	0.13
R2012:Slc27a2	UTSW	2	126,395,535 (GRCm39)	missense	probably damaging	0.98
R2217:Slc27a2	UTSW	2	126,409,672 (GRCm39)	missense	probably damaging	0.99
R3769:Slc27a2	UTSW	2	126,409,718 (GRCm39)	missense	possibly damaging	0.90
R3770:Slc27a2	UTSW	2	126,409,718 (GRCm39)	missense	possibly damaging	0.90
R5244:Slc27a2	UTSW	2	126,420,775 (GRCm39)	missense	probably benign	0.00
R5459:Slc27a2	UTSW	2	126,422,912 (GRCm39)	missense	probably damaging	0.98
R5582:Slc27a2	UTSW	2	126,406,610 (GRCm39)	missense	probably damaging	1.00
R5606:Slc27a2	UTSW	2	126,406,610 (GRCm39)	missense	probably damaging	1.00
R5655:Slc27a2	UTSW	2	126,420,859 (GRCm39)	missense	probably damaging	1.00
R5680:Slc27a2	UTSW	2	126,403,530 (GRCm39)	missense	probably benign	0.02
R5747:Slc27a2	UTSW	2	126,406,658 (GRCm39)	missense	probably benign
R6346:Slc27a2	UTSW	2	126,429,800 (GRCm39)	missense	probably damaging	0.97
R7042:Slc27a2	UTSW	2	126,409,700 (GRCm39)	missense	probably damaging	0.97
R7323:Slc27a2	UTSW	2	126,395,124 (GRCm39)	missense	probably benign	0.38
R7391:Slc27a2	UTSW	2	126,395,082 (GRCm39)	missense	unknown
R8247:Slc27a2	UTSW	2	126,395,515 (GRCm39)	missense	probably benign	0.01
R8836:Slc27a2	UTSW	2	126,416,656 (GRCm39)	missense
R9192:Slc27a2	UTSW	2	126,429,807 (GRCm39)	missense	probably damaging	0.97
R9526:Slc27a2	UTSW	2	126,429,846 (GRCm39)	missense	probably damaging	0.97
R9599:Slc27a2	UTSW	2	126,420,904 (GRCm39)	missense	probably damaging	1.00
R9614:Slc27a2	UTSW	2	126,409,736 (GRCm39)	missense	probably damaging	0.99
RF008:Slc27a2	UTSW	2	126,395,175 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CTATAGCCAACGTATTGCCAGC -3'
(R):5'- TTCTGGCTTCGGAATAGAGC -3'

Sequencing Primer
(F):5'- GCGGGCCCTCAATAAGAC -3'
(R):5'- CTGGCTTCGGAATAGAGCAAAGTG -3'

Posted On

2019-06-26