Incidental Mutation 'R7228:Crot'
| ID |
562282 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crot
|
| Ensembl Gene |
ENSMUSG00000003623 |
| Gene Name |
carnitine O-octanoyltransferase |
| Synonyms |
1200003H03Rik |
| MMRRC Submission |
045300-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R7228 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 9026051 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 312
(N312I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003720
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003720]
|
| AlphaFold |
Q9DC50 |
| PDB Structure |
Crystal Structure of Mouse Carnitine Octanoyltransferase [X-RAY DIFFRACTION]
Crystal structure of mouse carnitine octanoyltransferase in complex with octanoylcarnitine [X-RAY DIFFRACTION]
C323M mutant structure of mouse carnitine octanoyltransferase [X-RAY DIFFRACTION]
M335V mutant structure of mouse carnitine octanoyltransferase [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003720
AA Change: N312I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003720
Gene: ENSMUSG00000003623
AA Change: N312I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
20 |
604 |
2.3e-167 |
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.] This gene encodes a member of the carnitine/choline acetyltransferase family. The encoded protein converts 4,8-dimethylnonanoyl-CoA to its corresponding carnitine ester. This transesterification occurs in the peroxisome and is necessary for transport of medium- and long- chain acyl-CoA molecules out of the peroxisome to the cytosol and mitochondria. The protein thus plays a role in lipid metabolism and fatty acid beta-oxidation. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jan 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,247,653 (GRCm39) |
F2467I |
probably benign |
Het |
| Acod1 |
A |
G |
14: 103,286,765 (GRCm39) |
T23A |
probably benign |
Het |
| Adam2 |
T |
A |
14: 66,291,361 (GRCm39) |
K306* |
probably null |
Het |
| Adcy10 |
A |
C |
1: 165,337,841 (GRCm39) |
I152L |
probably damaging |
Het |
| Amigo1 |
T |
C |
3: 108,094,546 (GRCm39) |
L15P |
probably benign |
Het |
| Aqp2 |
A |
G |
15: 99,480,005 (GRCm39) |
N156S |
probably benign |
Het |
| AU041133 |
A |
G |
10: 81,987,105 (GRCm39) |
K253E |
possibly damaging |
Het |
| Cacna1s |
A |
G |
1: 135,998,797 (GRCm39) |
T231A |
possibly damaging |
Het |
| Carf |
A |
T |
1: 60,148,553 (GRCm39) |
N83I |
probably damaging |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,532 (GRCm39) |
K140R |
probably benign |
Het |
| Cdc42bpb |
C |
T |
12: 111,271,527 (GRCm39) |
V1111M |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,946,561 (GRCm39) |
S424P |
probably benign |
Het |
| Cfap74 |
G |
A |
4: 155,549,507 (GRCm39) |
V123M |
unknown |
Het |
| Cyp2c69 |
C |
A |
19: 39,869,610 (GRCm39) |
M136I |
possibly damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,710,803 (GRCm39) |
D454G |
probably damaging |
Het |
| Dnaja4 |
A |
T |
9: 54,621,569 (GRCm39) |
H298L |
possibly damaging |
Het |
| Eif2ak4 |
C |
T |
2: 118,287,638 (GRCm39) |
T1081M |
probably damaging |
Het |
| Eif3j2 |
T |
C |
18: 43,610,574 (GRCm39) |
K80E |
probably damaging |
Het |
| Elp4 |
T |
A |
2: 105,622,647 (GRCm39) |
I351F |
probably damaging |
Het |
| Fbxw26 |
C |
G |
9: 109,554,012 (GRCm39) |
G209A |
possibly damaging |
Het |
| Fsip2 |
T |
A |
2: 82,822,651 (GRCm39) |
V6128D |
possibly damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,087 (GRCm39) |
T825A |
probably benign |
Het |
| Gm2042 |
A |
G |
12: 87,924,719 (GRCm39) |
E60G |
probably benign |
Het |
| Gm26566 |
G |
T |
4: 88,640,542 (GRCm39) |
R111L |
unknown |
Het |
| Gm3138 |
C |
A |
14: 15,632,269 (GRCm39) |
H147Q |
probably damaging |
Het |
| Gucy1b1 |
T |
A |
3: 81,940,581 (GRCm39) |
N615I |
unknown |
Het |
| Ighv14-1 |
A |
T |
12: 113,895,981 (GRCm39) |
F8I |
not run |
Het |
| Kcnh8 |
C |
T |
17: 53,263,744 (GRCm39) |
T747I |
probably benign |
Het |
| Kctd1 |
T |
A |
18: 15,195,469 (GRCm39) |
S385C |
possibly damaging |
Het |
| Lmo7 |
T |
A |
14: 102,133,971 (GRCm39) |
M672K |
probably damaging |
Het |
| Lrrc69 |
T |
A |
4: 14,775,027 (GRCm39) |
K80N |
probably damaging |
Het |
| Map2k5 |
C |
T |
9: 63,265,304 (GRCm39) |
D75N |
probably damaging |
Het |
| Matr3 |
T |
C |
18: 35,695,537 (GRCm39) |
V4A |
unknown |
Het |
| Megf10 |
T |
C |
18: 57,322,661 (GRCm39) |
C69R |
probably damaging |
Het |
| Mettl1 |
A |
G |
10: 126,881,152 (GRCm39) |
E221G |
probably benign |
Het |
| Mkrn3 |
C |
A |
7: 62,069,415 (GRCm39) |
R125S |
probably benign |
Het |
| Mlh3 |
A |
T |
12: 85,282,430 (GRCm39) |
L1401Q |
probably benign |
Het |
| Nacad |
T |
C |
11: 6,548,412 (GRCm39) |
I1412V |
probably benign |
Het |
| Nkain4 |
A |
T |
2: 180,596,362 (GRCm39) |
|
probably null |
Het |
| Notch2 |
T |
A |
3: 98,044,633 (GRCm39) |
C1518* |
probably null |
Het |
| Npw |
A |
G |
17: 24,877,065 (GRCm39) |
V112A |
probably benign |
Het |
| Or10a5 |
A |
T |
7: 106,636,307 (GRCm39) |
H315L |
probably benign |
Het |
| Or2v1 |
T |
A |
11: 49,025,706 (GRCm39) |
M229K |
possibly damaging |
Het |
| Pdzd2 |
T |
C |
15: 12,373,059 (GRCm39) |
T2359A |
probably benign |
Het |
| Pdzd2 |
T |
A |
15: 12,458,231 (GRCm39) |
K37* |
probably null |
Het |
| Phkb |
T |
G |
8: 86,569,636 (GRCm39) |
|
probably benign |
Het |
| Pou2af2 |
T |
C |
9: 51,202,956 (GRCm39) |
D66G |
probably damaging |
Het |
| Prrc2b |
C |
A |
2: 32,104,318 (GRCm39) |
Y1265* |
probably null |
Het |
| Rab31 |
T |
A |
17: 66,024,548 (GRCm39) |
M44L |
probably benign |
Het |
| Rap1gds1 |
C |
T |
3: 138,663,228 (GRCm39) |
G373R |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 78,976,525 (GRCm39) |
D1279G |
probably benign |
Het |
| Rbm46 |
T |
C |
3: 82,749,840 (GRCm39) |
D468G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,692,197 (GRCm39) |
E1059G |
probably damaging |
Het |
| Sez6l2 |
T |
C |
7: 126,552,897 (GRCm39) |
L221P |
probably damaging |
Het |
| Slit3 |
T |
A |
11: 35,490,245 (GRCm39) |
V361E |
probably damaging |
Het |
| Soat1 |
G |
A |
1: 156,261,808 (GRCm39) |
S400F |
probably damaging |
Het |
| Spp1 |
T |
C |
5: 104,588,311 (GRCm39) |
S238P |
probably damaging |
Het |
| Tdpoz8 |
T |
A |
3: 92,980,993 (GRCm39) |
C4S |
possibly damaging |
Het |
| Tfap2c |
T |
C |
2: 172,393,492 (GRCm39) |
S136P |
probably benign |
Het |
| Tgfbr2 |
T |
C |
9: 115,939,011 (GRCm39) |
E297G |
probably damaging |
Het |
| Trim2 |
T |
C |
3: 84,099,488 (GRCm39) |
D228G |
probably benign |
Het |
| Wdr82 |
C |
A |
9: 106,053,871 (GRCm39) |
A74E |
probably benign |
Het |
| Zfp451 |
T |
C |
1: 33,842,475 (GRCm39) |
T136A |
unknown |
Het |
|
| Other mutations in Crot |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00756:Crot
|
APN |
5 |
9,026,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01013:Crot
|
APN |
5 |
9,043,575 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01085:Crot
|
APN |
5 |
9,023,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02017:Crot
|
APN |
5 |
9,020,046 (GRCm39) |
splice site |
probably benign |
|
|
IGL02306:Crot
|
APN |
5 |
9,018,701 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02612:Crot
|
APN |
5 |
9,019,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02884:Crot
|
APN |
5 |
9,028,197 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03091:Crot
|
APN |
5 |
9,016,897 (GRCm39) |
missense |
probably benign |
|
|
IGL03356:Crot
|
APN |
5 |
9,038,295 (GRCm39) |
splice site |
probably benign |
|
|
ouray
|
UTSW |
5 |
9,043,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0383:Crot
|
UTSW |
5 |
9,018,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0396:Crot
|
UTSW |
5 |
9,019,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0502:Crot
|
UTSW |
5 |
9,026,075 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0503:Crot
|
UTSW |
5 |
9,026,075 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0676:Crot
|
UTSW |
5 |
9,043,622 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R1079:Crot
|
UTSW |
5 |
9,043,504 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1472:Crot
|
UTSW |
5 |
9,016,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1595:Crot
|
UTSW |
5 |
9,024,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1757:Crot
|
UTSW |
5 |
9,037,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1828:Crot
|
UTSW |
5 |
9,019,080 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1846:Crot
|
UTSW |
5 |
9,038,248 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2142:Crot
|
UTSW |
5 |
9,037,780 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3973:Crot
|
UTSW |
5 |
9,027,541 (GRCm39) |
missense |
probably benign |
|
|
R3974:Crot
|
UTSW |
5 |
9,027,541 (GRCm39) |
missense |
probably benign |
|
|
R3975:Crot
|
UTSW |
5 |
9,027,541 (GRCm39) |
missense |
probably benign |
|
|
R4445:Crot
|
UTSW |
5 |
9,023,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4446:Crot
|
UTSW |
5 |
9,023,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4995:Crot
|
UTSW |
5 |
9,024,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Crot
|
UTSW |
5 |
9,019,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5464:Crot
|
UTSW |
5 |
9,033,690 (GRCm39) |
splice site |
probably null |
|
|
R5673:Crot
|
UTSW |
5 |
9,038,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5814:Crot
|
UTSW |
5 |
9,023,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5935:Crot
|
UTSW |
5 |
9,024,192 (GRCm39) |
missense |
probably benign |
|
|
R5951:Crot
|
UTSW |
5 |
9,019,120 (GRCm39) |
nonsense |
probably null |
|
|
R6862:Crot
|
UTSW |
5 |
9,039,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6885:Crot
|
UTSW |
5 |
9,023,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6983:Crot
|
UTSW |
5 |
9,028,280 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7150:Crot
|
UTSW |
5 |
9,037,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7361:Crot
|
UTSW |
5 |
9,027,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7662:Crot
|
UTSW |
5 |
9,019,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7747:Crot
|
UTSW |
5 |
9,018,869 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8002:Crot
|
UTSW |
5 |
9,043,599 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8105:Crot
|
UTSW |
5 |
9,027,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8233:Crot
|
UTSW |
5 |
9,026,027 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8474:Crot
|
UTSW |
5 |
9,043,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8519:Crot
|
UTSW |
5 |
9,023,629 (GRCm39) |
missense |
probably benign |
|
|
R8734:Crot
|
UTSW |
5 |
9,028,208 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9528:Crot
|
UTSW |
5 |
9,043,575 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9649:Crot
|
UTSW |
5 |
9,024,170 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGAACTGACCTATGTTCAGC -3'
(R):5'- ACCCAGAATTACCTGCTGAGTC -3'
Sequencing Primer
(F):5'- AGAACTGACCTATGTTCAGCTTTCC -3'
(R):5'- AGAATTACCTGCTGAGTCCTCAC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation