Incidental Mutation 'R8766:Crat'
| ID |
667863 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| MMRRC Submission |
068600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R8766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30290483-30305825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 30297075 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 293
(P293S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000132981]
[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: P293S
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: P293S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
616 |
1.9e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102854
AA Change: P272S
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: P272S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102855
AA Change: P293S
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: P293S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
35 |
615 |
2.4e-195 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132981
|
| SMART Domains |
Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
76 |
2.3e-16 |
PFAM |
|
| 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: 99.2%
|
| Validation Efficiency |
100% (49/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
T |
G |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
| Amz1 |
A |
G |
5: 140,733,921 (GRCm39) |
N166D |
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,011,497 (GRCm39) |
N70I |
probably damaging |
Het |
| Asah2 |
A |
G |
19: 32,035,280 (GRCm39) |
F15S |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,657 (GRCm39) |
M182V |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,002,881 (GRCm39) |
L326P |
probably damaging |
Het |
| Ccdc169 |
T |
C |
3: 55,058,245 (GRCm39) |
|
probably null |
Het |
| Cct8 |
A |
T |
16: 87,285,756 (GRCm39) |
V234D |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,817,844 (GRCm39) |
R633G |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,714,939 (GRCm39) |
|
probably benign |
Het |
| Crybg3 |
G |
A |
16: 59,375,696 (GRCm39) |
R139C |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,165,588 (GRCm39) |
N301S |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,967,262 (GRCm39) |
H438R |
probably damaging |
Het |
| Dglucy |
C |
A |
12: 100,837,706 (GRCm39) |
H616Q |
probably benign |
Het |
| Dync1i1 |
T |
A |
6: 5,767,142 (GRCm39) |
L74Q |
possibly damaging |
Het |
| Epn1 |
T |
C |
7: 5,095,860 (GRCm39) |
S167P |
possibly damaging |
Het |
| Fbxw28 |
T |
C |
9: 109,155,749 (GRCm39) |
E341G |
probably benign |
Het |
| Gk2 |
T |
A |
5: 97,604,110 (GRCm39) |
M243L |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,300,724 (GRCm39) |
E4D |
probably benign |
Het |
| Hsd17b13 |
T |
C |
5: 104,125,009 (GRCm39) |
K58R |
probably benign |
Het |
| Ighd5-7 |
G |
A |
12: 113,428,148 (GRCm39) |
Q9* |
probably null |
Het |
| Izumo1 |
G |
A |
7: 45,276,496 (GRCm39) |
S353N |
probably benign |
Het |
| Klhl31 |
T |
C |
9: 77,557,445 (GRCm39) |
S54P |
possibly damaging |
Het |
| Lonp2 |
T |
C |
8: 87,363,198 (GRCm39) |
M272T |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,603,250 (GRCm39) |
C682* |
probably null |
Het |
| Magi2 |
A |
G |
5: 20,400,123 (GRCm39) |
K52E |
probably benign |
Het |
| Nab2 |
C |
T |
10: 127,502,417 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
T |
A |
12: 116,390,356 (GRCm39) |
V435D |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,802,340 (GRCm39) |
D87G |
probably benign |
Het |
| Or10a3 |
A |
G |
7: 108,480,453 (GRCm39) |
M120T |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,485 (GRCm39) |
M143V |
probably benign |
Het |
| Pamr1 |
T |
C |
2: 102,380,538 (GRCm39) |
M1T |
probably null |
Het |
| Pard3b |
T |
C |
1: 62,198,637 (GRCm39) |
C242R |
probably benign |
Het |
| Pcif1 |
T |
A |
2: 164,727,346 (GRCm39) |
V106E |
probably benign |
Het |
| Pitx2 |
T |
A |
3: 129,012,223 (GRCm39) |
F218I |
probably damaging |
Het |
| Ppip5k1 |
G |
T |
2: 121,166,919 (GRCm39) |
Y877* |
probably null |
Het |
| Prkch |
A |
G |
12: 73,749,312 (GRCm39) |
N354S |
probably benign |
Het |
| Psen2 |
T |
A |
1: 180,073,201 (GRCm39) |
D40V |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,524,021 (GRCm39) |
S404T |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,855 (GRCm39) |
T3070S |
probably damaging |
Het |
| Slc24a4 |
A |
G |
12: 102,196,711 (GRCm39) |
D263G |
probably benign |
Het |
| Tox |
T |
C |
4: 6,823,047 (GRCm39) |
E90G |
probably damaging |
Het |
| Unc13b |
C |
T |
4: 43,174,722 (GRCm39) |
S1850L |
unknown |
Het |
| Vmn1r5 |
T |
A |
6: 56,963,100 (GRCm39) |
D258E |
possibly damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,241 (GRCm39) |
V660M |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,988,423 (GRCm39) |
R68H |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,674,353 (GRCm39) |
H439L |
probably benign |
Het |
| Zfp775 |
A |
T |
6: 48,597,113 (GRCm39) |
H329L |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,816,004 (GRCm39) |
L364P |
probably 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 |
|
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 |
|
R9293:Crat
|
UTSW |
2 |
30,298,214 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAGTTCAAAGCCTCAGTGAG -3'
(R):5'- TGTTGAAGGCACAGCTCTAAC -3'
Sequencing Primer
(F):5'- GCCTCAGTGAGCCAAACTTTGAG -3'
(R):5'- AATTCTGCACATTCCCTGAAGG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation