Incidental Mutation 'R0503:Crot'
| ID |
47245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crot
|
| Ensembl Gene |
ENSMUSG00000003623 |
| Gene Name |
carnitine O-octanoyltransferase |
| Synonyms |
1200003H03Rik |
| MMRRC Submission |
038698-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R0503 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9026075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 304
(V304A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000003720
AA Change: V304A
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000003720
Gene: ENSMUSG00000003623
AA Change: V304A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
20 |
604 |
2.3e-167 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120584
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146115
|
| Meta Mutation Damage Score |
0.2217 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,322 (GRCm39) |
H755R |
possibly damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,461,316 (GRCm39) |
E279G |
probably null |
Het |
| Ccdc65 |
G |
T |
15: 98,607,041 (GRCm39) |
D83Y |
probably damaging |
Het |
| Cd200r2 |
T |
A |
16: 44,698,325 (GRCm39) |
M1K |
probably null |
Het |
| Clca4c-ps |
A |
T |
3: 144,585,583 (GRCm39) |
|
noncoding transcript |
Het |
| Col6a6 |
A |
T |
9: 105,644,550 (GRCm39) |
M1246K |
probably benign |
Het |
| Comp |
A |
T |
8: 70,828,384 (GRCm39) |
N130I |
possibly damaging |
Het |
| Dapk1 |
T |
A |
13: 60,878,662 (GRCm39) |
|
probably null |
Het |
| Dspp |
A |
T |
5: 104,325,122 (GRCm39) |
D495V |
unknown |
Het |
| Erich2 |
A |
T |
2: 70,340,043 (GRCm39) |
R169S |
probably damaging |
Het |
| Erich2 |
C |
A |
2: 70,371,119 (GRCm39) |
S426R |
unknown |
Het |
| Gab1 |
C |
T |
8: 81,526,771 (GRCm39) |
R109H |
probably damaging |
Het |
| Ggcx |
GTCTAT |
GTCTATCTAT |
6: 72,406,140 (GRCm39) |
|
probably null |
Het |
| Gria1 |
T |
G |
11: 57,080,542 (GRCm39) |
V175G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,735,003 (GRCm39) |
V170M |
probably damaging |
Het |
| Irx4 |
T |
A |
13: 73,414,703 (GRCm39) |
|
probably null |
Het |
| Katnb1 |
A |
G |
8: 95,821,802 (GRCm39) |
T212A |
probably damaging |
Het |
| Kirrel1 |
A |
G |
3: 87,005,109 (GRCm39) |
S80P |
probably benign |
Het |
| Lrrc75b |
T |
C |
10: 75,389,488 (GRCm39) |
T81A |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,363,608 (GRCm39) |
S1775P |
probably damaging |
Het |
| Mmp10 |
A |
T |
9: 7,507,340 (GRCm39) |
I387F |
probably damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,039,641 (GRCm39) |
C110S |
probably benign |
Het |
| Mpig6b |
A |
G |
17: 35,283,424 (GRCm39) |
|
probably benign |
Het |
| Mrps27 |
G |
T |
13: 99,546,303 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,161,994 (GRCm39) |
|
probably benign |
Het |
| Nbea |
C |
T |
3: 55,550,257 (GRCm39) |
G2724S |
possibly damaging |
Het |
| Nck2 |
A |
G |
1: 43,572,728 (GRCm39) |
M1V |
probably null |
Het |
| Nefl |
T |
A |
14: 68,321,432 (GRCm39) |
D7E |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,579,806 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
C |
T |
7: 3,298,007 (GRCm39) |
E55K |
probably damaging |
Het |
| Nsun7 |
T |
A |
5: 66,440,924 (GRCm39) |
|
probably benign |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Or4c109 |
C |
T |
2: 88,818,322 (GRCm39) |
V75I |
probably benign |
Het |
| Or4k5 |
T |
A |
14: 50,385,935 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or51a5 |
A |
T |
7: 102,771,643 (GRCm39) |
M112K |
possibly damaging |
Het |
| Or6c2b |
T |
C |
10: 128,947,671 (GRCm39) |
T208A |
probably damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,354 (GRCm39) |
V113A |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,046,217 (GRCm39) |
T165A |
probably damaging |
Het |
| Pikfyve |
A |
T |
1: 65,259,058 (GRCm39) |
H410L |
probably damaging |
Het |
| Polr3c |
A |
T |
3: 96,620,952 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,731,710 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,237,138 (GRCm38) |
M1386V |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,520,954 (GRCm39) |
N784S |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,730,196 (GRCm39) |
I495K |
possibly damaging |
Het |
| Serpina12 |
C |
A |
12: 103,997,418 (GRCm39) |
A368S |
probably damaging |
Het |
| Tmem39b |
A |
C |
4: 129,580,779 (GRCm39) |
Y238D |
possibly damaging |
Het |
| Tspan11 |
T |
C |
6: 127,916,075 (GRCm39) |
W124R |
probably benign |
Het |
| Ttll10 |
T |
C |
4: 156,132,005 (GRCm39) |
|
probably benign |
Het |
| Tyro3 |
T |
C |
2: 119,633,711 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,045,127 (GRCm39) |
M644V |
probably benign |
Het |
| Vmn1r196 |
G |
A |
13: 22,477,557 (GRCm39) |
M65I |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,258,609 (GRCm39) |
Y482C |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,545,445 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,576,961 (GRCm39) |
L40* |
probably null |
Het |
| Zkscan1 |
T |
A |
5: 138,091,588 (GRCm39) |
I107N |
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 |
|
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 |
|
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'- GCTTTCCCTGACAATTCAGGACAAAAC -3'
(R):5'- CCCAGAATTACCTGCTGAGTCCTCAC -3'
Sequencing Primer
(F):5'- GCACCATGATATGATACAAGTCTTTG -3'
(R):5'- CAAAACTACCATTGCATGGAATTTGG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation