Incidental Mutation 'R6049:Crat'
| ID |
483426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| MMRRC Submission |
044217-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R6049 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
30290483-30305825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30293553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 63
(F63S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114925
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000028209]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000113612]
[ENSMUST00000123202]
[ENSMUST00000132981]
[ENSMUST00000154595]
[ENSMUST00000156702]
|
| AlphaFold |
P47934 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028207
AA Change: F538S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: F538S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
616 |
1.9e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028209
|
| SMART Domains |
Protein: ENSMUSP00000028209
Gene: ENSMUSG00000026856
| Domain | Start | End | E-Value | Type |
|---|
|
acidPPc
|
59 |
180 |
1.31e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102854
AA Change: F517S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: F517S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102855
AA Change: F538S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: F538S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
35 |
615 |
2.4e-195 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113612
|
| SMART Domains |
Protein: ENSMUSP00000109242
Gene: ENSMUSG00000026856
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP2
|
58 |
165 |
1.7e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123202
|
| SMART Domains |
Protein: ENSMUSP00000119478
Gene: ENSMUSG00000026856
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAP2
|
1 |
90 |
8.1e-13 |
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 damaging
Transcript: ENSMUST00000154595
AA Change: F63S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114925
Gene: ENSMUSG00000026853
AA Change: F63S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
1 |
132 |
1.4e-45 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152303
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151018
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146603
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137248
|
| SMART Domains |
Protein: ENSMUSP00000116276
Gene: ENSMUSG00000026856
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155196
|
| SMART Domains |
Protein: ENSMUSP00000115602
Gene: ENSMUSG00000026856
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
88 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156702
|
| 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 |
|
| Meta Mutation Damage Score |
0.9450 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (60/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
G |
A |
4: 103,088,520 (GRCm39) |
H229Y |
probably benign |
Het |
| Aadacl2fm2 |
A |
C |
3: 59,659,570 (GRCm39) |
D341A |
probably damaging |
Het |
| Abcd2 |
A |
G |
15: 91,062,439 (GRCm39) |
F500L |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,253,770 (GRCm39) |
L1190P |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,545,473 (GRCm39) |
V5604A |
probably benign |
Het |
| Ank2 |
T |
A |
3: 126,736,669 (GRCm39) |
T3072S |
possibly damaging |
Het |
| Arhgap39 |
A |
G |
15: 76,611,601 (GRCm39) |
|
probably null |
Het |
| C6 |
T |
C |
15: 4,764,654 (GRCm39) |
C117R |
probably damaging |
Het |
| Cacna1a |
A |
G |
8: 85,365,475 (GRCm39) |
E2206G |
probably damaging |
Het |
| Cd2bp2 |
A |
T |
7: 126,793,007 (GRCm39) |
F338L |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,803,490 (GRCm39) |
Q841L |
probably benign |
Het |
| Cngb1 |
T |
C |
8: 95,997,470 (GRCm39) |
D575G |
probably damaging |
Het |
| Cplane2 |
T |
A |
4: 140,945,473 (GRCm39) |
V108D |
probably benign |
Het |
| Crybg3 |
T |
C |
16: 59,364,417 (GRCm39) |
T2402A |
probably benign |
Het |
| Ctsq |
A |
G |
13: 61,186,572 (GRCm39) |
|
probably null |
Het |
| Cux1 |
T |
C |
5: 136,361,564 (GRCm39) |
R248G |
probably damaging |
Het |
| D7Ertd443e |
T |
C |
7: 133,899,961 (GRCm39) |
H420R |
probably benign |
Het |
| Deup1 |
A |
G |
9: 15,472,552 (GRCm39) |
F587L |
possibly damaging |
Het |
| Dnah6 |
T |
C |
6: 73,063,149 (GRCm39) |
K2651R |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,124,762 (GRCm39) |
I144V |
probably benign |
Het |
| Dnajc1 |
T |
C |
2: 18,236,511 (GRCm39) |
|
probably null |
Het |
| Fscb |
T |
C |
12: 64,521,094 (GRCm39) |
N124S |
possibly damaging |
Het |
| Gabbr2 |
A |
G |
4: 46,787,641 (GRCm39) |
Y341H |
probably damaging |
Het |
| Greb1 |
T |
A |
12: 16,731,395 (GRCm39) |
I1648F |
probably damaging |
Het |
| Hace1 |
A |
T |
10: 45,562,758 (GRCm39) |
N758Y |
probably damaging |
Het |
| Irs2 |
A |
C |
8: 11,056,805 (GRCm39) |
D542E |
probably benign |
Het |
| Kat6a |
T |
A |
8: 23,429,053 (GRCm39) |
H1469Q |
possibly damaging |
Het |
| Kif15 |
G |
A |
9: 122,840,687 (GRCm39) |
R36K |
probably damaging |
Het |
| Krt42 |
C |
T |
11: 100,157,886 (GRCm39) |
V193M |
probably damaging |
Het |
| Limch1 |
A |
T |
5: 67,188,203 (GRCm39) |
E878V |
probably benign |
Het |
| Med18 |
G |
T |
4: 132,187,024 (GRCm39) |
D158E |
probably benign |
Het |
| Med6 |
T |
C |
12: 81,638,097 (GRCm39) |
N38S |
probably damaging |
Het |
| Mup13 |
T |
C |
4: 61,183,596 (GRCm39) |
T76A |
probably benign |
Het |
| Nlrp4b |
T |
A |
7: 10,448,640 (GRCm39) |
L281* |
probably null |
Het |
| Or5h23 |
A |
T |
16: 58,906,509 (GRCm39) |
C112* |
probably null |
Het |
| Or7g28 |
C |
A |
9: 19,272,640 (GRCm39) |
G4* |
probably null |
Het |
| Or9r3 |
A |
T |
10: 129,948,481 (GRCm39) |
H59Q |
probably benign |
Het |
| Pde4d |
A |
T |
13: 109,169,119 (GRCm39) |
R54* |
probably null |
Het |
| Pdpk1 |
A |
T |
17: 24,317,109 (GRCm39) |
Y251* |
probably null |
Het |
| Pdzk1 |
A |
G |
3: 96,758,979 (GRCm39) |
E128G |
probably benign |
Het |
| Phf12 |
A |
G |
11: 77,918,996 (GRCm39) |
|
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,748,884 (GRCm39) |
E63G |
possibly damaging |
Het |
| Prkcd |
T |
C |
14: 30,329,254 (GRCm39) |
E62G |
possibly damaging |
Het |
| Prl7b1 |
G |
T |
13: 27,790,161 (GRCm39) |
D77E |
probably benign |
Het |
| Rbck1 |
G |
T |
2: 152,165,094 (GRCm39) |
C85* |
probably null |
Het |
| Rfx3 |
A |
T |
19: 27,779,795 (GRCm39) |
M481K |
probably damaging |
Het |
| Rmdn3 |
A |
G |
2: 118,983,906 (GRCm39) |
F159L |
probably damaging |
Het |
| Rpusd3 |
A |
C |
6: 113,394,802 (GRCm39) |
|
probably null |
Het |
| Ska1 |
T |
C |
18: 74,335,671 (GRCm39) |
T100A |
probably benign |
Het |
| Slc1a3 |
T |
C |
15: 8,675,177 (GRCm39) |
E276G |
probably damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,731,732 (GRCm39) |
Y361N |
probably damaging |
Het |
| Smc1b |
A |
G |
15: 85,005,896 (GRCm39) |
L336S |
probably damaging |
Het |
| St7 |
A |
G |
6: 17,694,347 (GRCm39) |
D46G |
possibly damaging |
Het |
| Supt5 |
A |
G |
7: 28,014,622 (GRCm39) |
I1059T |
probably benign |
Het |
| Syne1 |
A |
T |
10: 5,297,926 (GRCm39) |
S1124T |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,260,185 (GRCm39) |
S54P |
probably damaging |
Het |
| Tanc2 |
G |
A |
11: 105,758,543 (GRCm39) |
R768Q |
probably damaging |
Het |
| Tbc1d7 |
A |
C |
13: 43,312,836 (GRCm39) |
M19R |
probably damaging |
Het |
| Tbpl2 |
T |
C |
2: 23,985,004 (GRCm39) |
N47D |
possibly damaging |
Het |
| Tgfbr3 |
C |
T |
5: 107,266,351 (GRCm39) |
A790T |
probably damaging |
Het |
| Tnr |
T |
C |
1: 159,740,324 (GRCm39) |
V1166A |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,676,654 (GRCm39) |
|
probably benign |
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 |
|
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'- TCTGGTGACATATGTGGGCC -3'
(R):5'- ACAGCACTGTCACAGGGTTC -3'
Sequencing Primer
(F):5'- GGACATCTGATCTCCAGGATTTAAGG -3'
(R):5'- ACTGTCACAGGGTTCCAAGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation