Incidental Mutation 'R5244:Slc27a2'
| ID |
401034 |
| 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 |
042815-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5244 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
126394944-126430163 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126420775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 422
(V422A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000057595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061491]
[ENSMUST00000141482]
|
| AlphaFold |
O35488 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061491
AA Change: V422A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000057595
Gene: ENSMUSG00000027359
AA Change: V422A
| 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 |
probably benign
Transcript: ENSMUST00000141482
AA Change: V286A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000117145
Gene: ENSMUSG00000027359
AA Change: V286A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AMP-binding
|
7 |
256 |
6.2e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150947
|
| Meta Mutation Damage Score |
0.1249 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
97% (63/65) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
G |
T |
9: 53,323,098 (GRCm39) |
G45W |
probably damaging |
Het |
| Abca13 |
C |
T |
11: 9,225,081 (GRCm39) |
T520I |
probably benign |
Het |
| Adamtsl3 |
C |
T |
7: 82,247,277 (GRCm39) |
P485L |
probably benign |
Het |
| Bbof1 |
A |
C |
12: 84,476,847 (GRCm39) |
E492A |
possibly damaging |
Het |
| Capn11 |
T |
C |
17: 45,944,818 (GRCm39) |
E483G |
probably damaging |
Het |
| Cbs |
C |
T |
17: 31,836,134 (GRCm39) |
G438D |
probably damaging |
Het |
| Chil6 |
A |
G |
3: 106,297,290 (GRCm39) |
Y284H |
probably damaging |
Het |
| Cops4 |
C |
A |
5: 100,681,241 (GRCm39) |
Q131K |
probably benign |
Het |
| Cul4a |
T |
C |
8: 13,196,566 (GRCm39) |
I740T |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,574,947 (GRCm39) |
T1066I |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,273,018 (GRCm39) |
L2382P |
probably damaging |
Het |
| Ehd3 |
A |
T |
17: 74,136,995 (GRCm39) |
H388L |
probably benign |
Het |
| Fam13a |
G |
T |
6: 58,930,459 (GRCm39) |
Y484* |
probably null |
Het |
| Gm5117 |
A |
G |
8: 32,228,305 (GRCm39) |
|
noncoding transcript |
Het |
| Gulp1 |
G |
A |
1: 44,827,613 (GRCm39) |
D260N |
probably damaging |
Het |
| Hhipl1 |
T |
A |
12: 108,278,393 (GRCm39) |
N240K |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,259,451 (GRCm39) |
E2474D |
possibly damaging |
Het |
| Ifi207 |
C |
T |
1: 173,557,503 (GRCm39) |
V412I |
probably benign |
Het |
| Ighv9-4 |
T |
C |
12: 114,263,871 (GRCm39) |
I21V |
probably benign |
Het |
| Kcnh1 |
A |
T |
1: 191,907,184 (GRCm39) |
T79S |
probably benign |
Het |
| Kpna6 |
A |
G |
4: 129,549,221 (GRCm39) |
|
probably null |
Het |
| Lnpk |
C |
T |
2: 74,362,232 (GRCm39) |
G262D |
probably damaging |
Het |
| Lsm7 |
T |
C |
10: 80,688,907 (GRCm39) |
E66G |
probably benign |
Het |
| Mbd3l1 |
T |
A |
9: 18,395,933 (GRCm39) |
C19* |
probably null |
Het |
| Mfsd6l |
T |
A |
11: 68,448,001 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Naip5 |
C |
T |
13: 100,382,170 (GRCm39) |
V180I |
probably benign |
Het |
| Or2ag1b |
T |
A |
7: 106,288,396 (GRCm39) |
I181F |
probably benign |
Het |
| Or2j6 |
A |
T |
7: 139,980,051 (GRCm39) |
C303S |
probably benign |
Het |
| Or4k39 |
T |
A |
2: 111,238,899 (GRCm39) |
|
noncoding transcript |
Het |
| Or6d13 |
T |
A |
6: 116,518,187 (GRCm39) |
Y258N |
probably damaging |
Het |
| Or7g22 |
A |
T |
9: 19,049,147 (GRCm39) |
N286I |
probably damaging |
Het |
| Or8g20 |
T |
G |
9: 39,395,808 (GRCm39) |
H247P |
probably damaging |
Het |
| Or8u10 |
C |
G |
2: 85,915,300 (GRCm39) |
A274P |
probably damaging |
Het |
| Pck1 |
T |
A |
2: 172,996,656 (GRCm39) |
I190N |
possibly damaging |
Het |
| Pfkfb3 |
T |
A |
2: 11,489,660 (GRCm39) |
I209F |
probably damaging |
Het |
| Phc1 |
A |
G |
6: 122,298,938 (GRCm39) |
S677P |
probably damaging |
Het |
| Pirb |
G |
A |
7: 3,719,062 (GRCm39) |
A609V |
probably benign |
Het |
| Plag1 |
A |
T |
4: 3,903,887 (GRCm39) |
S435T |
probably benign |
Het |
| Plscr2 |
C |
G |
9: 92,173,102 (GRCm39) |
L215V |
probably benign |
Het |
| Pnma8a |
A |
G |
7: 16,695,248 (GRCm39) |
S368G |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,490,847 (GRCm39) |
|
probably benign |
Het |
| Pthlh |
T |
C |
6: 147,158,651 (GRCm39) |
Y103C |
probably damaging |
Het |
| Ptprq |
A |
G |
10: 107,422,556 (GRCm39) |
V1612A |
possibly damaging |
Het |
| Rprd2 |
T |
A |
3: 95,697,494 (GRCm39) |
I85L |
possibly damaging |
Het |
| Slc29a1 |
T |
C |
17: 45,899,339 (GRCm39) |
|
probably benign |
Het |
| Slc36a4 |
A |
T |
9: 15,645,574 (GRCm39) |
I334F |
probably benign |
Het |
| Slc4a10 |
T |
A |
2: 62,119,069 (GRCm39) |
S761R |
probably damaging |
Het |
| Spa17 |
T |
A |
9: 37,523,285 (GRCm39) |
M1L |
probably damaging |
Het |
| Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Het |
| Stk19 |
A |
G |
17: 35,051,046 (GRCm39) |
L72P |
probably damaging |
Het |
| Trhde |
T |
C |
10: 114,636,986 (GRCm39) |
M74V |
probably benign |
Het |
| Trim37 |
C |
T |
11: 87,109,083 (GRCm39) |
H937Y |
probably benign |
Het |
| Ttc7b |
A |
G |
12: 100,314,269 (GRCm39) |
L46P |
probably damaging |
Het |
| Ttll4 |
T |
C |
1: 74,735,607 (GRCm39) |
V1005A |
probably benign |
Het |
| Ugt2b36 |
T |
C |
5: 87,239,765 (GRCm39) |
T207A |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,433,233 (GRCm39) |
|
probably null |
Het |
| Vmn1r221 |
T |
C |
13: 23,401,808 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r101 |
T |
C |
17: 19,831,788 (GRCm39) |
S595P |
probably damaging |
Het |
| Wnt10a |
T |
C |
1: 74,842,454 (GRCm39) |
L310P |
probably damaging |
Het |
| Yif1b |
G |
A |
7: 28,943,866 (GRCm39) |
A115T |
probably damaging |
Het |
| Zfp219 |
C |
A |
14: 52,245,999 (GRCm39) |
R331L |
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 |
|
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 |
|
R7297:Slc27a2
|
UTSW |
2 |
126,420,866 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- TCTGTGATAGCCAAGCACAC -3'
(R):5'- CCTGTCGTGAAAGTAGACGAAG -3'
Sequencing Primer
(F):5'- GTTGAAGAGACACAGTCCTTCATGC -3'
(R):5'- GAAGTTCTCACGGTCGATCATCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation