Incidental Mutation 'R7150:Crot'
| ID |
554046 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crot
|
| Ensembl Gene |
ENSMUSG00000003623 |
| Gene Name |
carnitine O-octanoyltransferase |
| Synonyms |
1200003H03Rik |
| MMRRC Submission |
045252-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R7150 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
9016033-9047324 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9037878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 146
(V146A)
|
| 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: V146A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003720
Gene: ENSMUSG00000003623
AA Change: V146A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
20 |
604 |
2.3e-167 |
PFAM |
|
| Meta Mutation Damage Score |
0.3492 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (59/60) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
T |
C |
8: 125,589,653 (GRCm39) |
D20G |
possibly damaging |
Het |
| 5430401F13Rik |
T |
C |
6: 131,529,630 (GRCm39) |
S75P |
probably benign |
Het |
| Acad8 |
A |
T |
9: 26,889,750 (GRCm39) |
F315I |
probably damaging |
Het |
| Adcy5 |
A |
G |
16: 35,118,904 (GRCm39) |
Y1085C |
probably damaging |
Het |
| Aldh1a7 |
T |
C |
19: 20,693,382 (GRCm39) |
K179R |
probably damaging |
Het |
| Arhgap10 |
C |
T |
8: 77,977,583 (GRCm39) |
G776R |
probably damaging |
Het |
| Arhgap35 |
A |
C |
7: 16,296,491 (GRCm39) |
F858C |
probably damaging |
Het |
| Ash1l |
C |
T |
3: 88,984,381 (GRCm39) |
R2957W |
probably damaging |
Het |
| Atp6ap1l |
G |
T |
13: 91,031,848 (GRCm39) |
A278E |
probably damaging |
Het |
| Btn1a1 |
A |
T |
13: 23,643,521 (GRCm39) |
D309E |
probably damaging |
Het |
| Casd1 |
C |
T |
6: 4,624,211 (GRCm39) |
R335C |
probably benign |
Het |
| Ceacam3 |
A |
G |
7: 16,885,487 (GRCm39) |
Q30R |
|
Het |
| Cfap20 |
C |
T |
8: 96,148,795 (GRCm39) |
C119Y |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,055,457 (GRCm39) |
|
probably null |
Het |
| Cx3cl1 |
A |
G |
8: 95,506,591 (GRCm39) |
S199G |
probably damaging |
Het |
| Ddhd1 |
A |
T |
14: 45,895,263 (GRCm39) |
L69Q |
probably damaging |
Het |
| Dnah12 |
T |
C |
14: 26,583,689 (GRCm39) |
F3195L |
probably damaging |
Het |
| Dpy19l3 |
A |
T |
7: 35,408,055 (GRCm39) |
D450E |
probably benign |
Het |
| Ercc3 |
A |
T |
18: 32,390,325 (GRCm39) |
N538I |
probably damaging |
Het |
| Fzd1 |
A |
T |
5: 4,806,145 (GRCm39) |
V479E |
probably benign |
Het |
| Gart |
T |
C |
16: 91,425,351 (GRCm39) |
Y638C |
possibly damaging |
Het |
| Gm2381 |
C |
A |
7: 42,469,888 (GRCm39) |
V79L |
probably benign |
Het |
| Gucy1b1 |
T |
C |
3: 81,950,469 (GRCm39) |
Y312C |
probably damaging |
Het |
| Hecw1 |
T |
A |
13: 14,609,045 (GRCm39) |
M1L |
probably benign |
Het |
| Ip6k2 |
A |
G |
9: 108,673,930 (GRCm39) |
I99V |
unknown |
Het |
| Itgb5 |
C |
T |
16: 33,761,013 (GRCm39) |
T616I |
probably benign |
Het |
| Kmt2c |
A |
C |
5: 25,505,360 (GRCm39) |
V3316G |
possibly damaging |
Het |
| Lama3 |
C |
T |
18: 12,601,346 (GRCm39) |
R1008C |
probably damaging |
Het |
| Lin54 |
T |
C |
5: 100,633,159 (GRCm39) |
D175G |
possibly damaging |
Het |
| Lrp2 |
A |
G |
2: 69,318,395 (GRCm39) |
S2019P |
probably damaging |
Het |
| Lrrc9 |
A |
G |
12: 72,513,726 (GRCm39) |
E528G |
probably benign |
Het |
| Lyz3 |
T |
C |
10: 117,073,647 (GRCm39) |
N62S |
probably benign |
Het |
| Mto1 |
A |
G |
9: 78,364,565 (GRCm39) |
H299R |
probably damaging |
Het |
| Myo19 |
G |
A |
11: 84,796,439 (GRCm39) |
G684R |
probably benign |
Het |
| Or14c45 |
A |
C |
7: 86,176,322 (GRCm39) |
D119A |
probably damaging |
Het |
| Or7g32 |
A |
T |
9: 19,408,145 (GRCm39) |
M34L |
probably benign |
Het |
| Pcdh18 |
C |
A |
3: 49,709,143 (GRCm39) |
C724F |
probably benign |
Het |
| Pcdha3 |
A |
T |
18: 37,080,165 (GRCm39) |
K302N |
probably benign |
Het |
| Pcdhgb2 |
T |
C |
18: 37,825,300 (GRCm39) |
F764L |
possibly damaging |
Het |
| Pik3cb |
C |
A |
9: 98,975,143 (GRCm39) |
G246W |
probably damaging |
Het |
| Polr2m |
A |
T |
9: 71,390,626 (GRCm39) |
I192N |
probably damaging |
Het |
| Polr2m |
G |
T |
9: 71,390,815 (GRCm39) |
T129K |
probably benign |
Het |
| Pramel48 |
A |
G |
5: 95,630,680 (GRCm39) |
I186V |
possibly damaging |
Het |
| Ptpn4 |
C |
T |
1: 119,619,475 (GRCm39) |
|
probably null |
Het |
| Scgb1b19 |
A |
T |
7: 32,986,940 (GRCm39) |
K30N |
possibly damaging |
Het |
| Shpk |
A |
G |
11: 73,104,315 (GRCm39) |
T155A |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,461,546 (GRCm39) |
Y261H |
probably damaging |
Het |
| Sox13 |
A |
G |
1: 133,313,243 (GRCm39) |
F438L |
possibly damaging |
Het |
| Sphk1 |
A |
T |
11: 116,425,907 (GRCm39) |
E61D |
probably benign |
Het |
| St18 |
A |
G |
1: 6,873,243 (GRCm39) |
D326G |
probably damaging |
Het |
| Syde1 |
G |
A |
10: 78,422,032 (GRCm39) |
Q566* |
probably null |
Het |
| Tacc2 |
A |
G |
7: 130,330,807 (GRCm39) |
T254A |
probably benign |
Het |
| Tbc1d1 |
A |
G |
5: 64,330,827 (GRCm39) |
E2G |
probably damaging |
Het |
| Trim5 |
A |
T |
7: 103,926,017 (GRCm39) |
N181K |
probably damaging |
Het |
| Trpc7 |
A |
T |
13: 56,931,509 (GRCm39) |
I730K |
probably benign |
Het |
| Uqcrc1 |
T |
A |
9: 108,776,926 (GRCm39) |
M377K |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,305,898 (GRCm39) |
N508S |
probably benign |
Het |
| Vmp1 |
A |
T |
11: 86,477,402 (GRCm39) |
S333T |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,578,854 (GRCm39) |
M639K |
possibly damaging |
Het |
| Zfp874b |
A |
T |
13: 67,622,622 (GRCm39) |
C225* |
probably null |
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 |
|
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'- AACTACTCAAATGTCAGTGCTCC -3'
(R):5'- AAGAGTGCCAAGGATCCTGG -3'
Sequencing Primer
(F):5'- CCCCCGACCTGCCAAATATC -3'
(R):5'- GCACGGGTTGGACTGAG -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation