Incidental Mutation 'R9293:Crat'
| ID |
704372 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| MMRRC Submission |
068991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R9293 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30290483-30305825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30298214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 162
(F162L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000129494]
[ENSMUST00000132981]
[ENSMUST00000134120]
[ENSMUST00000154595]
[ENSMUST00000156702]
|
| AlphaFold |
P47934 |
| PDB Structure |
Crystal structure of Carnitine Acetyltransferase [X-RAY DIFFRACTION]
Carnitine Acetyltransferase in Complex with Carnitine [X-RAY DIFFRACTION]
Carnitine Acetyltransferase in complex with CoA [X-RAY DIFFRACTION]
Crystal structure of the M564G mutant of murine CrAT [X-RAY DIFFRACTION]
Crystal structure of the M564G mutant of murine carnitine acetyltransferase in complex with carnitine [X-RAY DIFFRACTION]
Crystal structure of the F565A mutant of murine carnitine acetyltransferase in complex with carnitine and CoA [X-RAY DIFFRACTION]
Crystal structure of murine carnitine acetyltransferase in complex with carnitine and acetyl-CoA [X-RAY DIFFRACTION]
Crystal structure of murine carnitine acetyltransferase in complex with carnitine and CoA [X-RAY DIFFRACTION]
Crystal structure of the S554A/M564G mutant of murine carnitine acetyltransferase in complex with hexanoylcarnitine and CoA [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028207
AA Change: F162L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: F162L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
616 |
1.9e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102854
AA Change: F141L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: F141L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102855
AA Change: F162L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: F162L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
35 |
615 |
2.4e-195 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129494
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132981
AA Change: F162L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853
AA Change: F162L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
76 |
2.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154595
|
| SMART Domains |
Protein: ENSMUSP00000114925
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
1 |
132 |
1.4e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155790
|
| SMART Domains |
Protein: ENSMUSP00000122814
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
1 |
133 |
2.4e-51 |
PFAM |
|
Pfam:Carn_acyltransf
|
128 |
190 |
8.9e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156702
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
95% (54/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes carnitine O-acetyltransferase, a member of the carnitine acyltransferase family and a key metabolic pathway enzyme which plays an important role in energy homeostasis and fat metabolism. This enzyme catalyzes the reversible transfer of acyl groups from an acyl-CoA thioester to carnitine and regulates the ratio of acyl-CoA/CoA. It is found in both the mitochondria and the peroxisome. Alternative splicing results in transcript variants encoding different isoforms that may localize to different subcellular compartments. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice with muscle specific loss of function display increased circulating glucose level, impaired glucose tolerance, insulin resistance, decreased circulating triglyceride and free fatty acid levels, increased susceptibility to diet-induced obesity and abnormal mitochondrial physiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,771,839 (GRCm39) |
S343P |
possibly damaging |
Het |
| 4930563M21Rik |
T |
A |
9: 55,916,568 (GRCm39) |
E36D |
unknown |
Het |
| Abcc8 |
T |
G |
7: 45,756,092 (GRCm39) |
K1450T |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,361,953 (GRCm39) |
N720Y |
possibly damaging |
Het |
| BC034090 |
T |
C |
1: 155,101,518 (GRCm39) |
T249A |
probably benign |
Het |
| Brf2 |
A |
T |
8: 27,614,021 (GRCm39) |
S388R |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,944,461 (GRCm39) |
Q1437L |
probably damaging |
Het |
| Cdc42ep1 |
A |
C |
15: 78,734,025 (GRCm39) |
D375A |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,174,282 (GRCm39) |
Y487C |
probably damaging |
Het |
| Cfap299 |
C |
T |
5: 98,646,162 (GRCm39) |
A86V |
probably benign |
Het |
| Chd3 |
C |
T |
11: 69,244,027 (GRCm39) |
R1346H |
possibly damaging |
Het |
| Cltc |
T |
A |
11: 86,603,446 (GRCm39) |
R793S |
possibly damaging |
Het |
| Cyp3a44 |
C |
A |
5: 145,711,187 (GRCm39) |
V495L |
probably benign |
Het |
| Dchs2 |
C |
T |
3: 83,189,361 (GRCm39) |
T1575I |
possibly damaging |
Het |
| Ddx60 |
A |
G |
8: 62,462,994 (GRCm39) |
T1292A |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,495,016 (GRCm39) |
A109V |
probably benign |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,419,297 (GRCm39) |
S546P |
|
Het |
| Hfe |
T |
C |
13: 23,890,792 (GRCm39) |
K204E |
probably benign |
Het |
| Hibch |
T |
A |
1: 52,952,986 (GRCm39) |
Y329N |
probably damaging |
Het |
| Irf9 |
T |
G |
14: 55,846,247 (GRCm39) |
I426S |
probably damaging |
Het |
| Kif26a |
C |
A |
12: 112,112,835 (GRCm39) |
P13T |
probably damaging |
Het |
| Lhx5 |
A |
C |
5: 120,570,451 (GRCm39) |
K36Q |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,707,579 (GRCm39) |
S1623P |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,710,884 (GRCm39) |
F193L |
probably damaging |
Het |
| Mybl2 |
G |
A |
2: 162,910,135 (GRCm39) |
G187E |
probably damaging |
Het |
| Myh1 |
A |
T |
11: 67,099,929 (GRCm39) |
Q613L |
probably benign |
Het |
| Myo5a |
T |
A |
9: 75,087,312 (GRCm39) |
M1056K |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,285,955 (GRCm39) |
K298E |
probably damaging |
Het |
| Or4a27 |
G |
A |
2: 88,559,799 (GRCm39) |
T48I |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or8b3b |
T |
C |
9: 38,584,414 (GRCm39) |
I109V |
probably damaging |
Het |
| Pcdhga12 |
G |
A |
18: 37,900,940 (GRCm39) |
V591M |
probably damaging |
Het |
| Phyhipl |
A |
G |
10: 70,401,116 (GRCm39) |
S161P |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,263,205 (GRCm39) |
T775A |
probably benign |
Het |
| Pou3f3 |
T |
C |
1: 42,736,682 (GRCm39) |
V126A |
unknown |
Het |
| Reg4 |
A |
C |
3: 98,143,631 (GRCm39) |
K142Q |
possibly damaging |
Het |
| Rimoc1 |
T |
C |
15: 4,021,336 (GRCm39) |
D73G |
probably damaging |
Het |
| Sec22c |
G |
T |
9: 121,517,314 (GRCm39) |
A199E |
probably damaging |
Het |
| Sema3d |
C |
T |
5: 12,603,181 (GRCm39) |
P395S |
probably damaging |
Het |
| Sh2b2 |
C |
T |
5: 136,260,893 (GRCm39) |
E108K |
possibly damaging |
Het |
| Slfn3 |
A |
G |
11: 83,105,616 (GRCm39) |
K538E |
possibly damaging |
Het |
| Spatc1l |
A |
T |
10: 76,405,200 (GRCm39) |
D194V |
probably damaging |
Het |
| Stoml3 |
T |
C |
3: 53,408,185 (GRCm39) |
V77A |
possibly damaging |
Het |
| Taco1 |
A |
G |
11: 105,963,930 (GRCm39) |
I230V |
probably benign |
Het |
| Tfcp2 |
T |
C |
15: 100,411,934 (GRCm39) |
T346A |
probably benign |
Het |
| Tmem8b |
C |
T |
4: 43,686,188 (GRCm39) |
T273M |
probably damaging |
Het |
| Trav6-1 |
A |
G |
14: 52,876,299 (GRCm39) |
N73S |
probably benign |
Het |
| Trav6d-5 |
A |
G |
14: 53,033,060 (GRCm39) |
D103G |
probably damaging |
Het |
| Ttll5 |
T |
A |
12: 85,937,806 (GRCm39) |
L379Q |
probably damaging |
Het |
| Ube3c |
T |
A |
5: 29,803,846 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
A |
C |
2: 69,727,769 (GRCm39) |
D44A |
probably benign |
Het |
| Upp2 |
G |
T |
2: 58,457,443 (GRCm39) |
R5L |
unknown |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r17 |
C |
T |
5: 109,600,712 (GRCm39) |
T670I |
probably damaging |
Het |
| Zfp433 |
A |
T |
10: 81,556,122 (GRCm39) |
H208L |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,974,744 (GRCm39) |
I429F |
possibly damaging |
Het |
|
| Other mutations in Crat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01294:Crat
|
APN |
2 |
30,295,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01357:Crat
|
APN |
2 |
30,297,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Crat
|
APN |
2 |
30,299,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01973:Crat
|
APN |
2 |
30,295,493 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02228:Crat
|
APN |
2 |
30,303,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Crat
|
APN |
2 |
30,297,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02569:Crat
|
APN |
2 |
30,294,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02637:Crat
|
APN |
2 |
30,296,401 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02983:Crat
|
APN |
2 |
30,294,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03395:Crat
|
APN |
2 |
30,294,978 (GRCm39) |
missense |
probably benign |
0.11 |
|
Charlie
|
UTSW |
2 |
30,293,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
demo
|
UTSW |
2 |
30,292,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
veruca
|
UTSW |
2 |
30,293,640 (GRCm39) |
unclassified |
probably benign |
|
|
R0136:Crat
|
UTSW |
2 |
30,297,042 (GRCm39) |
missense |
probably benign |
|
|
R0389:Crat
|
UTSW |
2 |
30,293,640 (GRCm39) |
unclassified |
probably benign |
|
|
R0443:Crat
|
UTSW |
2 |
30,293,640 (GRCm39) |
unclassified |
probably benign |
|
|
R0619:Crat
|
UTSW |
2 |
30,299,996 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1938:Crat
|
UTSW |
2 |
30,303,073 (GRCm39) |
missense |
probably benign |
|
|
R1990:Crat
|
UTSW |
2 |
30,295,060 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2113:Crat
|
UTSW |
2 |
30,292,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2655:Crat
|
UTSW |
2 |
30,292,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3150:Crat
|
UTSW |
2 |
30,303,871 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4231:Crat
|
UTSW |
2 |
30,303,023 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4553:Crat
|
UTSW |
2 |
30,298,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4592:Crat
|
UTSW |
2 |
30,305,378 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4718:Crat
|
UTSW |
2 |
30,298,176 (GRCm39) |
nonsense |
probably null |
|
|
R4808:Crat
|
UTSW |
2 |
30,300,033 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4982:Crat
|
UTSW |
2 |
30,297,148 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5473:Crat
|
UTSW |
2 |
30,297,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6049:Crat
|
UTSW |
2 |
30,293,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6223:Crat
|
UTSW |
2 |
30,297,042 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6774:Crat
|
UTSW |
2 |
30,303,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6885:Crat
|
UTSW |
2 |
30,305,208 (GRCm39) |
splice site |
probably benign |
|
|
R7376:Crat
|
UTSW |
2 |
30,296,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7407:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7408:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7410:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7467:Crat
|
UTSW |
2 |
30,299,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7484:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7514:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7582:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7584:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7585:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7620:Crat
|
UTSW |
2 |
30,298,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7685:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7686:Crat
|
UTSW |
2 |
30,294,577 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8332:Crat
|
UTSW |
2 |
30,295,084 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8554:Crat
|
UTSW |
2 |
30,300,035 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8766:Crat
|
UTSW |
2 |
30,297,075 (GRCm39) |
missense |
probably benign |
0.38 |
|
R8994:Crat
|
UTSW |
2 |
30,297,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9151:Crat
|
UTSW |
2 |
30,295,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9176:Crat
|
UTSW |
2 |
30,297,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9182:Crat
|
UTSW |
2 |
30,298,085 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGGCAATGGAGGTCACAAC -3'
(R):5'- ACCCTAATAACACCTGCTCTTG -3'
Sequencing Primer
(F):5'- CACAACTAGTGCAGCACGGG -3'
(R):5'- GCTGGTGGCAATGGTGAC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation