Incidental Mutation 'R7582:Crat'
| ID |
586778 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| MMRRC Submission |
045665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R7582 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30290483-30305825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 30294577 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 497
(R497Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000028209]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000113612]
[ENSMUST00000123202]
[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: R497Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: R497Q
| 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 benign
Transcript: ENSMUST00000102854
AA Change: R476Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: R476Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102855
AA Change: R497Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: R497Q
| 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 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: ENSMUST00000154595
AA Change: R17Q
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114925
Gene: ENSMUSG00000026853
AA Change: R17Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
1 |
132 |
1.4e-45 |
PFAM |
|
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122814
Gene: ENSMUSG00000026853
AA Change: R95Q
| 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
|
| Meta Mutation Damage Score |
0.0672 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,266,565 (GRCm39) |
V1007A |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,841,523 (GRCm39) |
V800A |
probably damaging |
Het |
| Ankfn1 |
T |
A |
11: 89,417,445 (GRCm39) |
M56L |
probably benign |
Het |
| Arfgap3 |
A |
C |
15: 83,187,302 (GRCm39) |
V72G |
possibly damaging |
Het |
| B3galnt2 |
C |
T |
13: 14,165,986 (GRCm39) |
R294W |
probably damaging |
Het |
| Cadm1 |
G |
T |
9: 47,708,740 (GRCm39) |
D157Y |
probably damaging |
Het |
| Castor1 |
T |
C |
11: 4,170,457 (GRCm39) |
V151A |
probably benign |
Het |
| Ccdc81 |
A |
T |
7: 89,525,353 (GRCm39) |
Y474N |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,841,264 (GRCm39) |
K297I |
probably benign |
Het |
| Cep128 |
G |
A |
12: 91,314,340 (GRCm39) |
T146M |
probably damaging |
Het |
| Cfap161 |
T |
C |
7: 83,426,290 (GRCm39) |
N236S |
possibly damaging |
Het |
| Chil3 |
A |
T |
3: 106,071,572 (GRCm39) |
W31R |
probably damaging |
Het |
| Cmtm2b |
C |
T |
8: 105,049,353 (GRCm39) |
S86F |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,374,362 (GRCm39) |
G958D |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,822,625 (GRCm39) |
L244P |
unknown |
Het |
| Cul9 |
A |
G |
17: 46,821,905 (GRCm39) |
Y1857H |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,208,964 (GRCm39) |
Q1154R |
probably damaging |
Het |
| Fgg |
G |
A |
3: 82,921,445 (GRCm39) |
G376D |
probably damaging |
Het |
| Fmn2 |
T |
C |
1: 174,526,356 (GRCm39) |
S1392P |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,147,615 (GRCm39) |
V418A |
probably benign |
Het |
| Foxf1 |
A |
T |
8: 121,811,430 (GRCm39) |
H98L |
possibly damaging |
Het |
| Frmd4a |
C |
CA |
2: 4,599,408 (GRCm39) |
|
probably null |
Het |
| Fry |
C |
A |
5: 150,419,847 (GRCm39) |
T639K |
|
Het |
| Fryl |
A |
G |
5: 73,179,843 (GRCm39) |
|
probably null |
Het |
| Gdpd4 |
A |
G |
7: 97,607,012 (GRCm39) |
|
probably null |
Het |
| Gpt2 |
A |
G |
8: 86,246,145 (GRCm39) |
K368R |
probably damaging |
Het |
| Hc |
A |
T |
2: 34,881,278 (GRCm39) |
V1447E |
possibly damaging |
Het |
| Kmt5a |
A |
G |
5: 124,597,982 (GRCm39) |
T280A |
probably benign |
Het |
| Lrrc4b |
G |
T |
7: 44,111,234 (GRCm39) |
V369L |
probably benign |
Het |
| Ly6g5c |
A |
G |
17: 35,330,783 (GRCm39) |
M102V |
probably benign |
Het |
| Malrd1 |
A |
G |
2: 15,700,081 (GRCm39) |
S643G |
unknown |
Het |
| Mib2 |
T |
C |
4: 155,739,267 (GRCm39) |
N904S |
probably benign |
Het |
| Mug2 |
G |
A |
6: 122,056,603 (GRCm39) |
V1183I |
probably damaging |
Het |
| Nckap1l |
C |
T |
15: 103,390,587 (GRCm39) |
T786I |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,224,504 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
A |
G |
7: 99,463,174 (GRCm39) |
V183A |
probably benign |
Het |
| Nod1 |
A |
G |
6: 54,921,292 (GRCm39) |
L342P |
probably damaging |
Het |
| Nop58 |
T |
C |
1: 59,740,097 (GRCm39) |
V163A |
probably damaging |
Het |
| Npr3 |
C |
T |
15: 11,895,768 (GRCm39) |
G293R |
probably null |
Het |
| Obscn |
T |
A |
11: 58,952,253 (GRCm39) |
K3939* |
probably null |
Het |
| Or4d10c |
G |
A |
19: 12,065,370 (GRCm39) |
A262V |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,136,793 (GRCm39) |
M81K |
probably damaging |
Het |
| Or5k16 |
A |
T |
16: 58,736,410 (GRCm39) |
M198K |
possibly damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,058 (GRCm39) |
I33T |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,117 (GRCm39) |
L54P |
probably damaging |
Het |
| P2ry6 |
A |
G |
7: 100,587,784 (GRCm39) |
Y192H |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
| Pign |
G |
A |
1: 105,577,092 (GRCm39) |
T197I |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,716,817 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
C |
A |
15: 85,703,122 (GRCm39) |
R938L |
possibly damaging |
Het |
| Psg21 |
A |
G |
7: 18,381,128 (GRCm39) |
*472R |
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,509,654 (GRCm39) |
S474R |
probably benign |
Het |
| Rrn3 |
C |
T |
16: 13,628,375 (GRCm39) |
Q519* |
probably null |
Het |
| Seh1l |
A |
T |
18: 67,908,188 (GRCm39) |
K37* |
probably null |
Het |
| Shprh |
A |
G |
10: 11,040,449 (GRCm39) |
S641G |
probably benign |
Het |
| Slc4a1 |
T |
G |
11: 102,243,403 (GRCm39) |
S743R |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,174,534 (GRCm39) |
R688* |
probably null |
Het |
| Tlr11 |
C |
T |
14: 50,599,186 (GRCm39) |
Q391* |
probably null |
Het |
| Tmbim4 |
A |
G |
10: 120,053,471 (GRCm39) |
H90R |
probably benign |
Het |
| Trav8d-1 |
T |
C |
14: 53,016,326 (GRCm39) |
S71P |
possibly damaging |
Het |
| Trbv5 |
G |
A |
6: 41,039,617 (GRCm39) |
R74Q |
probably benign |
Het |
| Tril |
A |
G |
6: 53,795,921 (GRCm39) |
S434P |
probably benign |
Het |
| Uhmk1 |
A |
G |
1: 170,027,570 (GRCm39) |
Y376H |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,170,914 (GRCm39) |
C317R |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,476,225 (GRCm39) |
C377Y |
probably benign |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdr41 |
T |
C |
13: 95,142,275 (GRCm39) |
S150P |
probably damaging |
Het |
| Zfp617 |
T |
A |
8: 72,685,864 (GRCm39) |
Y65N |
probably benign |
Het |
| Zfp800 |
A |
C |
6: 28,244,089 (GRCm39) |
V292G |
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 |
|
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'- AGGATGACCCTAGTTTTACCAACTTAC -3'
(R):5'- CTCATGCAAGTGAGTGCTAGG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CAAGTGAGTGCTAGGCTCCAG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation