Incidental Mutation 'R4592:Crat'
| ID |
342877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| MMRRC Submission |
041808-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R4592 (G1)
|
| Quality Score |
191 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30290483-30305825 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
T to C
at 30305378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117317
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000042055]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000113601]
[ENSMUST00000113603]
[ENSMUST00000132981]
[ENSMUST00000134120]
[ENSMUST00000129494]
[ENSMUST00000142096]
[ENSMUST00000152165]
[ENSMUST00000156702]
|
| AlphaFold |
P47934 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028207
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
616 |
1.9e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042055
|
| SMART Domains |
Protein: ENSMUSP00000046837
Gene: ENSMUSG00000039515
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
|
Pfam:PTPA
|
26 |
319 |
1.5e-126 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102854
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102855
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
35 |
615 |
2.4e-195 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113601
|
| SMART Domains |
Protein: ENSMUSP00000109231
Gene: ENSMUSG00000039515
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
|
Pfam:PTPA
|
38 |
104 |
5.7e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113603
|
| SMART Domains |
Protein: ENSMUSP00000109233
Gene: ENSMUSG00000039515
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
20 |
N/A |
INTRINSIC |
|
Pfam:PTPA
|
64 |
280 |
5.7e-90 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125743
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128593
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159932
|
| 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: ENSMUST00000134120
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129494
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142096
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152165
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156702
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (64/65) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
A |
4: 62,457,164 (GRCm39) |
V161E |
possibly damaging |
Het |
| Arhgap40 |
T |
C |
2: 158,388,629 (GRCm39) |
V521A |
possibly damaging |
Het |
| Atrn |
T |
C |
2: 130,841,050 (GRCm39) |
|
probably benign |
Het |
| Casp12 |
T |
C |
9: 5,352,923 (GRCm39) |
|
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,411,230 (GRCm39) |
T318M |
probably damaging |
Het |
| Cfap119 |
C |
T |
7: 127,184,663 (GRCm39) |
R172H |
probably benign |
Het |
| Clcn2 |
T |
C |
16: 20,527,892 (GRCm39) |
K525E |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,889,419 (GRCm39) |
T301A |
probably benign |
Het |
| Cul5 |
A |
G |
9: 53,545,027 (GRCm39) |
|
probably benign |
Het |
| Cxcl14 |
A |
T |
13: 56,443,708 (GRCm39) |
I34N |
probably damaging |
Het |
| Cyp2b19 |
A |
G |
7: 26,470,819 (GRCm39) |
I487V |
probably benign |
Het |
| Cyp4a10 |
T |
A |
4: 115,386,690 (GRCm39) |
F446I |
probably damaging |
Het |
| D430041D05Rik |
T |
A |
2: 104,063,824 (GRCm39) |
M659L |
possibly damaging |
Het |
| Dclk3 |
T |
C |
9: 111,296,963 (GRCm39) |
F169S |
probably damaging |
Het |
| Ddx52 |
T |
C |
11: 83,848,306 (GRCm39) |
I532T |
probably damaging |
Het |
| Dnm1 |
T |
C |
2: 32,226,023 (GRCm39) |
D352G |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,677,509 (GRCm39) |
E174G |
probably damaging |
Het |
| Enpp6 |
G |
T |
8: 47,546,067 (GRCm39) |
V386L |
probably damaging |
Het |
| Entr1 |
C |
A |
2: 26,278,909 (GRCm39) |
|
probably benign |
Het |
| Eps15l1 |
T |
C |
8: 73,095,238 (GRCm39) |
D904G |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,565,604 (GRCm39) |
Y356C |
probably damaging |
Het |
| Flt3 |
A |
T |
5: 147,291,509 (GRCm39) |
S619T |
possibly damaging |
Het |
| Fndc7 |
A |
T |
3: 108,766,218 (GRCm39) |
C716S |
probably damaging |
Het |
| Gm26996 |
T |
A |
6: 130,556,448 (GRCm39) |
|
noncoding transcript |
Het |
| Grik2 |
A |
T |
10: 49,298,711 (GRCm39) |
F50I |
possibly damaging |
Het |
| Guf1 |
T |
C |
5: 69,723,786 (GRCm39) |
V367A |
possibly damaging |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ifnar2 |
T |
C |
16: 91,188,684 (GRCm39) |
V55A |
probably benign |
Het |
| Impg1 |
T |
A |
9: 80,322,907 (GRCm39) |
I33F |
probably benign |
Het |
| Ltbp4 |
A |
C |
7: 27,024,608 (GRCm39) |
V674G |
probably damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,772 (GRCm39) |
L529H |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,914,023 (GRCm39) |
|
probably benign |
Het |
| Neurog3 |
A |
G |
10: 61,969,599 (GRCm39) |
T25A |
probably damaging |
Het |
| Or10v1 |
T |
C |
19: 11,874,126 (GRCm39) |
V247A |
probably benign |
Het |
| Or4a69 |
T |
A |
2: 89,313,100 (GRCm39) |
K126N |
probably damaging |
Het |
| Or51h1 |
A |
C |
7: 102,308,685 (GRCm39) |
Y219S |
probably damaging |
Het |
| Or5k17 |
T |
C |
16: 58,746,455 (GRCm39) |
T160A |
probably benign |
Het |
| Pax8 |
T |
A |
2: 24,333,201 (GRCm39) |
|
probably benign |
Het |
| Pcsk6 |
A |
C |
7: 65,581,480 (GRCm39) |
I254L |
possibly damaging |
Het |
| Pde3a |
A |
G |
6: 141,404,942 (GRCm39) |
K389R |
probably benign |
Het |
| Rab3gap1 |
C |
A |
1: 127,852,996 (GRCm39) |
|
probably benign |
Het |
| Rbck1 |
G |
A |
2: 152,160,653 (GRCm39) |
Q428* |
probably null |
Het |
| Rptor |
A |
G |
11: 119,689,666 (GRCm39) |
D321G |
probably null |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Skp1 |
T |
C |
11: 52,134,446 (GRCm39) |
I59T |
possibly damaging |
Het |
| Slc23a3 |
T |
G |
1: 75,105,200 (GRCm39) |
N456T |
probably damaging |
Het |
| Slc4a7 |
G |
A |
14: 14,778,850 (GRCm38) |
G920S |
probably damaging |
Het |
| Smarcd3 |
T |
C |
5: 24,797,802 (GRCm39) |
I467V |
probably benign |
Het |
| Spata31d1c |
C |
T |
13: 65,183,874 (GRCm39) |
A472V |
probably damaging |
Het |
| Spmap1 |
A |
G |
11: 97,662,441 (GRCm39) |
S144P |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,773,643 (GRCm39) |
I18T |
probably damaging |
Het |
| Stom |
C |
T |
2: 35,213,758 (GRCm39) |
G80D |
probably damaging |
Het |
| Svep1 |
A |
T |
4: 58,084,028 (GRCm39) |
Y1915N |
possibly damaging |
Het |
| Tmf1 |
C |
T |
6: 97,150,361 (GRCm39) |
V449I |
probably benign |
Het |
| Triobp |
C |
T |
15: 78,851,295 (GRCm39) |
A483V |
probably benign |
Het |
| Vdac1 |
G |
A |
11: 52,265,799 (GRCm39) |
|
probably null |
Het |
| Vmn2r75 |
T |
G |
7: 85,815,494 (GRCm39) |
E123D |
probably benign |
Het |
| Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
| Zdbf2 |
T |
G |
1: 63,345,750 (GRCm39) |
N1376K |
possibly damaging |
Het |
| Zeb1os1 |
T |
C |
18: 5,525,375 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
R9293:Crat
|
UTSW |
2 |
30,298,214 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTTCTTCTGGGATCGAACC -3'
(R):5'- TAACAGCTGAGCTAGAGGTCCG -3'
Sequencing Primer
(F):5'- GAACCCACCCCTTACCTGGTC -3'
(R):5'- TGAGCTAGAGGTCCGTCTCC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation