Incidental Mutation 'R6862:Crot'
ID |
535681 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crot
|
Ensembl Gene |
ENSMUSG00000003623 |
Gene Name |
carnitine O-octanoyltransferase |
Synonyms |
1200003H03Rik |
MMRRC Submission |
045026-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R6862 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9039641 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 69
(K69E)
|
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: K69E
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000003720 Gene: ENSMUSG00000003623 AA Change: K69E
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: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
98% (57/58) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
C |
T |
3: 137,891,949 (GRCm39) |
|
probably benign |
Het |
Adgra2 |
T |
A |
8: 27,603,465 (GRCm39) |
C417S |
probably damaging |
Het |
Adgra2 |
C |
A |
8: 27,603,464 (GRCm39) |
H416Q |
probably benign |
Het |
Aff3 |
C |
A |
1: 38,445,578 (GRCm39) |
R307L |
possibly damaging |
Het |
Arhgap17 |
T |
C |
7: 122,921,124 (GRCm39) |
D121G |
probably damaging |
Het |
Ascc3 |
G |
T |
10: 50,725,742 (GRCm39) |
R2155I |
probably null |
Het |
Ccdc115 |
C |
T |
1: 34,478,364 (GRCm39) |
S19N |
possibly damaging |
Het |
Ccser2 |
T |
C |
14: 36,662,038 (GRCm39) |
N382S |
probably benign |
Het |
Cct6b |
A |
T |
11: 82,610,785 (GRCm39) |
V500E |
probably damaging |
Het |
Cenpo |
A |
T |
12: 4,266,539 (GRCm39) |
Y190N |
probably damaging |
Het |
Cfh |
T |
A |
1: 140,030,100 (GRCm39) |
K924N |
probably damaging |
Het |
Col4a1 |
A |
G |
8: 11,252,926 (GRCm39) |
|
probably benign |
Het |
Coro1b |
T |
C |
19: 4,200,770 (GRCm39) |
V234A |
probably benign |
Het |
Cyp2d11 |
A |
T |
15: 82,274,339 (GRCm39) |
H347Q |
probably benign |
Het |
Efcab3 |
A |
T |
11: 104,612,284 (GRCm39) |
K636* |
probably null |
Het |
Fbn2 |
T |
A |
18: 58,257,393 (GRCm39) |
I325F |
probably benign |
Het |
Fbxw4 |
T |
A |
19: 45,571,187 (GRCm39) |
R41S |
probably benign |
Het |
Fn1 |
T |
A |
1: 71,653,066 (GRCm39) |
I1308F |
probably benign |
Het |
Frem1 |
C |
A |
4: 82,930,251 (GRCm39) |
E232* |
probably null |
Het |
Gabrg3 |
T |
C |
7: 56,423,059 (GRCm39) |
Q213R |
possibly damaging |
Het |
Garin3 |
G |
A |
11: 46,298,418 (GRCm39) |
G574D |
possibly damaging |
Het |
Gsdme |
A |
T |
6: 50,204,378 (GRCm39) |
V193E |
probably damaging |
Het |
Hadha |
C |
A |
5: 30,352,977 (GRCm39) |
|
probably null |
Het |
Hdgfl2 |
C |
A |
17: 56,406,211 (GRCm39) |
A533E |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,006,327 (GRCm39) |
F975S |
probably damaging |
Het |
Htatip2 |
T |
A |
7: 49,420,666 (GRCm39) |
S171T |
probably benign |
Het |
Ift57 |
A |
T |
16: 49,584,167 (GRCm39) |
I307F |
possibly damaging |
Het |
Il22 |
A |
T |
10: 118,041,715 (GRCm39) |
R110W |
probably benign |
Het |
Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
Kif2b |
G |
A |
11: 91,466,741 (GRCm39) |
T514M |
probably damaging |
Het |
Kmt2c |
A |
C |
5: 25,515,515 (GRCm39) |
I2776S |
probably damaging |
Het |
Ly9 |
T |
C |
1: 171,428,723 (GRCm39) |
D189G |
probably benign |
Het |
Mal2 |
T |
C |
15: 54,451,753 (GRCm39) |
V58A |
probably damaging |
Het |
Mettl21e |
T |
A |
1: 44,245,526 (GRCm39) |
N240I |
probably benign |
Het |
Msantd5f1 |
A |
G |
4: 73,605,621 (GRCm39) |
N344S |
probably benign |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Nacc1 |
G |
A |
8: 85,399,844 (GRCm39) |
R458C |
probably damaging |
Het |
Ncapd3 |
T |
C |
9: 26,942,105 (GRCm39) |
C14R |
probably damaging |
Het |
Obscn |
G |
T |
11: 58,886,279 (GRCm39) |
|
probably benign |
Het |
Or13c3 |
A |
G |
4: 52,855,695 (GRCm39) |
F273L |
probably benign |
Het |
Or1j4 |
A |
T |
2: 36,740,234 (GRCm39) |
M59L |
possibly damaging |
Het |
Or8d23 |
T |
A |
9: 38,841,772 (GRCm39) |
F102I |
possibly damaging |
Het |
Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
Pde4dip |
C |
A |
3: 97,674,340 (GRCm39) |
R192L |
possibly damaging |
Het |
Pdlim4 |
C |
A |
11: 53,946,674 (GRCm39) |
E204D |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,853,063 (GRCm39) |
Q1049R |
probably damaging |
Het |
Prr14l |
A |
G |
5: 32,985,103 (GRCm39) |
L1464P |
probably damaging |
Het |
Psg25 |
C |
T |
7: 18,255,323 (GRCm39) |
V398I |
probably benign |
Het |
Ptprq |
T |
A |
10: 107,522,086 (GRCm39) |
N622Y |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Tex36 |
A |
G |
7: 133,189,002 (GRCm39) |
L190P |
probably benign |
Het |
Tk1 |
A |
G |
11: 117,707,320 (GRCm39) |
C156R |
probably damaging |
Het |
Tmem144 |
T |
A |
3: 79,739,406 (GRCm39) |
M126L |
probably benign |
Het |
Tmem208 |
G |
A |
8: 106,054,862 (GRCm39) |
|
probably null |
Het |
Trappc13 |
T |
C |
13: 104,286,660 (GRCm39) |
Q199R |
probably damaging |
Het |
Trim30b |
T |
A |
7: 104,012,960 (GRCm39) |
K156N |
probably damaging |
Het |
Trps1 |
A |
G |
15: 50,695,001 (GRCm39) |
|
probably null |
Het |
Washc4 |
T |
A |
10: 83,394,757 (GRCm39) |
F329Y |
possibly damaging |
Het |
Zbed5 |
T |
G |
5: 129,932,026 (GRCm39) |
D658E |
probably benign |
Het |
Zfyve28 |
T |
G |
5: 34,445,449 (GRCm39) |
K11N |
probably benign |
Het |
Zp1 |
C |
T |
19: 10,893,877 (GRCm39) |
V443I |
possibly damaging |
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 |
|
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 |
R7228:Crot
|
UTSW |
5 |
9,026,051 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- ACTACTGATTCCAGGAAACCTC -3'
(R):5'- ACTAAAGCCTTCCTGTGTGC -3'
Sequencing Primer
(F):5'- TTCCAGGAAACCTCTATTTTAACAC -3'
(R):5'- TAAAGCCTTCCTGTGTGCTAGCAG -3'
|
Posted On |
2018-10-18 |