Incidental Mutation 'R3973:Crot'
ID |
312930 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crot
|
Ensembl Gene |
ENSMUSG00000003623 |
Gene Name |
carnitine O-octanoyltransferase |
Synonyms |
1200003H03Rik |
MMRRC Submission |
040841-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R3973 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 9027541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 264
(T264A)
|
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 benign
Transcript: ENSMUST00000003720
AA Change: T264A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000003720 Gene: ENSMUSG00000003623 AA Change: T264A
Domain | Start | End | E-Value | Type |
Pfam:Carn_acyltransf
|
20 |
604 |
2.3e-167 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146115
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
Validation Efficiency |
98% (61/62) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2510039O18Rik |
T |
C |
4: 148,029,488 (GRCm39) |
I486T |
probably damaging |
Het |
4933427D14Rik |
T |
C |
11: 72,089,567 (GRCm39) |
R106G |
probably damaging |
Het |
Cfap54 |
A |
G |
10: 92,675,333 (GRCm39) |
S2863P |
possibly damaging |
Het |
Copa |
T |
A |
1: 171,948,812 (GRCm39) |
S1155T |
probably benign |
Het |
Ddx3y |
G |
A |
Y: 1,267,170 (GRCm39) |
A232V |
probably damaging |
Het |
Dst |
T |
G |
1: 34,050,979 (GRCm39) |
V25G |
probably benign |
Het |
Ehbp1 |
C |
T |
11: 22,087,867 (GRCm39) |
A406T |
probably benign |
Het |
Eml5 |
A |
T |
12: 98,768,724 (GRCm39) |
|
probably benign |
Het |
Eps8 |
A |
T |
6: 137,486,153 (GRCm39) |
M453K |
probably benign |
Het |
Galnt3 |
T |
C |
2: 65,937,374 (GRCm39) |
D112G |
possibly damaging |
Het |
Glra4 |
C |
T |
X: 135,663,542 (GRCm39) |
A336T |
probably damaging |
Het |
Gmppb |
A |
G |
9: 107,927,338 (GRCm39) |
D95G |
probably benign |
Het |
Gprc6a |
T |
C |
10: 51,504,544 (GRCm39) |
Y100C |
possibly damaging |
Het |
Gpx6 |
C |
A |
13: 21,501,828 (GRCm39) |
S150Y |
probably damaging |
Het |
Hsd17b3 |
A |
T |
13: 64,207,300 (GRCm39) |
V247D |
probably damaging |
Het |
Htr7 |
T |
C |
19: 36,034,160 (GRCm39) |
D165G |
probably damaging |
Het |
Igha |
T |
C |
12: 113,219,972 (GRCm39) |
|
probably benign |
Het |
Igsf10 |
A |
G |
3: 59,239,345 (GRCm39) |
C279R |
probably damaging |
Het |
Irak4 |
A |
G |
15: 94,452,621 (GRCm39) |
E182G |
possibly damaging |
Het |
Lipo3 |
A |
T |
19: 33,535,723 (GRCm39) |
V274E |
probably damaging |
Het |
Lrpprc |
A |
C |
17: 85,078,269 (GRCm39) |
|
probably null |
Het |
Mast1 |
T |
C |
8: 85,645,393 (GRCm39) |
Y684C |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,722,363 (GRCm39) |
F2382L |
probably benign |
Het |
Mepe |
C |
T |
5: 104,484,944 (GRCm39) |
P28L |
probably benign |
Het |
Mrgpra3 |
T |
A |
7: 47,239,414 (GRCm39) |
I171F |
probably benign |
Het |
Muc2 |
T |
A |
7: 141,300,541 (GRCm39) |
|
probably benign |
Het |
Myh3 |
C |
T |
11: 66,987,262 (GRCm39) |
Q1371* |
probably null |
Het |
Nodal |
T |
A |
10: 61,258,833 (GRCm39) |
V90E |
probably benign |
Het |
Npas4 |
A |
T |
19: 5,036,579 (GRCm39) |
H528Q |
probably benign |
Het |
Nt5dc3 |
T |
C |
10: 86,660,100 (GRCm39) |
V382A |
probably damaging |
Het |
Pcdh18 |
G |
A |
3: 49,709,035 (GRCm39) |
T293I |
probably damaging |
Het |
Phf20l1 |
A |
G |
15: 66,513,665 (GRCm39) |
D947G |
probably damaging |
Het |
Phf8-ps |
A |
T |
17: 33,285,405 (GRCm39) |
S466T |
probably benign |
Het |
Pla2r1 |
A |
G |
2: 60,279,306 (GRCm39) |
V758A |
probably benign |
Het |
Plod2 |
G |
T |
9: 92,480,672 (GRCm39) |
G422* |
probably null |
Het |
Ppp1r12a |
T |
C |
10: 108,089,341 (GRCm39) |
V660A |
probably benign |
Het |
Prdm6 |
T |
C |
18: 53,673,278 (GRCm39) |
I186T |
possibly damaging |
Het |
Prkd3 |
G |
A |
17: 79,266,570 (GRCm39) |
|
probably benign |
Het |
Prrc2a |
A |
G |
17: 35,376,908 (GRCm39) |
L734P |
probably damaging |
Het |
Rnf128 |
C |
A |
X: 138,565,271 (GRCm39) |
L282I |
probably damaging |
Het |
Rnf213 |
A |
G |
11: 119,359,879 (GRCm39) |
N4424S |
|
Het |
Scrn3 |
T |
C |
2: 73,166,121 (GRCm39) |
S385P |
possibly damaging |
Het |
Serpina1d |
A |
T |
12: 103,734,107 (GRCm39) |
S66T |
probably benign |
Het |
Setd3 |
T |
C |
12: 108,131,417 (GRCm39) |
K3R |
possibly damaging |
Het |
Slc2a7 |
A |
G |
4: 150,242,667 (GRCm39) |
|
probably null |
Het |
Smad4 |
G |
T |
18: 73,810,807 (GRCm39) |
T59K |
possibly damaging |
Het |
Spc25 |
A |
G |
2: 69,032,945 (GRCm39) |
L60P |
probably damaging |
Het |
Stam |
A |
C |
2: 14,143,772 (GRCm39) |
H354P |
probably damaging |
Het |
Tesk1 |
C |
T |
4: 43,445,786 (GRCm39) |
P280S |
possibly damaging |
Het |
Tmem120a |
C |
G |
5: 135,765,131 (GRCm39) |
R254P |
probably benign |
Het |
Traf5 |
T |
C |
1: 191,729,837 (GRCm39) |
T405A |
probably benign |
Het |
Trav7-4 |
A |
G |
14: 53,699,119 (GRCm39) |
S89G |
probably benign |
Het |
Tsc22d1 |
T |
C |
14: 76,656,049 (GRCm39) |
S761P |
probably damaging |
Het |
Ugt1a10 |
C |
A |
1: 88,143,862 (GRCm39) |
H361N |
probably damaging |
Het |
Ugt2b1 |
C |
A |
5: 87,065,534 (GRCm39) |
V502L |
probably benign |
Het |
Vip |
T |
A |
10: 5,592,590 (GRCm39) |
S77T |
possibly damaging |
Het |
Wdr72 |
A |
T |
9: 74,125,979 (GRCm39) |
M1025L |
probably benign |
Het |
Zfp541 |
A |
G |
7: 15,806,147 (GRCm39) |
D94G |
probably 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 |
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 |
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'- CCCTACACAATATAGTTCATAGGTGA -3'
(R):5'- ACTCGGTGGGCAAAGGTAATAA -3'
Sequencing Primer
(F):5'- TAGGTGAGAAAAATTCTAAGACCCTG -3'
(R):5'- TCCCAGAAGCTGTCGTGTGAATAG -3'
|
Posted On |
2015-04-30 |