Incidental Mutation 'R7685:Crat'
| ID |
592979 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| MMRRC Submission |
045750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R7685 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (79/80) |
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,116,081 (GRCm39) |
L251S |
probably damaging |
Het |
| Acsbg1 |
C |
T |
9: 54,535,843 (GRCm39) |
S53N |
unknown |
Het |
| Adamts18 |
A |
G |
8: 114,439,855 (GRCm39) |
C913R |
probably damaging |
Het |
| Adck5 |
C |
A |
15: 76,479,588 (GRCm39) |
Y524* |
probably null |
Het |
| Adgrv1 |
G |
T |
13: 81,251,443 (GRCm39) |
Q6225K |
possibly damaging |
Het |
| Ahr |
T |
C |
12: 35,554,016 (GRCm39) |
N701S |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,447,261 (GRCm39) |
C1386R |
probably damaging |
Het |
| Bbs1 |
A |
G |
19: 4,956,182 (GRCm39) |
S38P |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,862,933 (GRCm39) |
C1366* |
probably null |
Het |
| Cep290 |
A |
C |
10: 100,375,919 (GRCm39) |
H1424P |
probably benign |
Het |
| Clcn3 |
C |
T |
8: 61,386,119 (GRCm39) |
R311K |
possibly damaging |
Het |
| Dhx9 |
A |
G |
1: 153,334,152 (GRCm39) |
Y1002H |
probably damaging |
Het |
| Dnah8 |
C |
T |
17: 30,876,947 (GRCm39) |
T533I |
probably damaging |
Het |
| Ermard |
T |
C |
17: 15,279,724 (GRCm39) |
S505P |
probably benign |
Het |
| Fbxw17 |
G |
A |
13: 50,579,680 (GRCm39) |
D166N |
probably damaging |
Het |
| Fmo3 |
T |
C |
1: 162,785,901 (GRCm39) |
K363R |
possibly damaging |
Het |
| Frey1 |
C |
A |
2: 92,213,817 (GRCm39) |
P68Q |
probably damaging |
Het |
| Gadd45gip1 |
A |
T |
8: 85,558,980 (GRCm39) |
R21W |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,826 (GRCm39) |
N517S |
probably benign |
Het |
| Ganc |
T |
A |
2: 120,264,273 (GRCm39) |
W409R |
probably damaging |
Het |
| Glrx3 |
T |
C |
7: 137,060,920 (GRCm39) |
S185P |
probably damaging |
Het |
| Gm49368 |
T |
C |
7: 127,712,414 (GRCm39) |
S853P |
probably damaging |
Het |
| Gtf3c2 |
A |
C |
5: 31,325,611 (GRCm39) |
L443V |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,781,489 (GRCm39) |
Q388L |
probably benign |
Het |
| Hcar2 |
C |
T |
5: 124,003,396 (GRCm39) |
V36M |
possibly damaging |
Het |
| Ifit3b |
A |
T |
19: 34,589,955 (GRCm39) |
D377V |
possibly damaging |
Het |
| Ints5 |
A |
G |
19: 8,874,168 (GRCm39) |
D709G |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,844,450 (GRCm39) |
E1880G |
probably benign |
Het |
| Mep1a |
C |
T |
17: 43,790,065 (GRCm39) |
S428N |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,567,790 (GRCm39) |
L739P |
probably damaging |
Het |
| Mlst8 |
T |
C |
17: 24,695,031 (GRCm39) |
Y284C |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,956,111 (GRCm39) |
M1T |
probably null |
Het |
| Muc5ac |
C |
T |
7: 141,363,120 (GRCm39) |
P2144S |
unknown |
Het |
| Myh4 |
T |
C |
11: 67,131,756 (GRCm39) |
V72A |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,377,395 (GRCm39) |
|
probably null |
Het |
| Nlrc5 |
A |
G |
8: 95,248,028 (GRCm39) |
|
probably null |
Het |
| Nme8 |
T |
A |
13: 19,835,145 (GRCm39) |
M514L |
probably benign |
Het |
| Nudt9 |
C |
A |
5: 104,194,946 (GRCm39) |
S14* |
probably null |
Het |
| Optn |
G |
A |
2: 5,059,461 (GRCm39) |
T19I |
probably benign |
Het |
| Or11h23 |
A |
T |
14: 50,948,215 (GRCm39) |
I143F |
possibly damaging |
Het |
| Or13a24 |
T |
C |
7: 140,154,159 (GRCm39) |
F31S |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,112,370 (GRCm39) |
L495* |
probably null |
Het |
| Panx2 |
T |
C |
15: 88,951,973 (GRCm39) |
S147P |
possibly damaging |
Het |
| Pclo |
T |
A |
5: 14,730,630 (GRCm39) |
V3044D |
unknown |
Het |
| Pcnt |
T |
C |
10: 76,258,642 (GRCm39) |
K608E |
probably benign |
Het |
| Pde7a |
T |
A |
3: 19,281,909 (GRCm39) |
N447I |
probably damaging |
Het |
| Peli2 |
G |
T |
14: 48,517,491 (GRCm39) |
C186F |
not run |
Het |
| Pgm5 |
A |
G |
19: 24,705,215 (GRCm39) |
F433L |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,736,877 (GRCm39) |
V1588I |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,409,413 (GRCm39) |
H1295L |
probably benign |
Het |
| Poli |
T |
C |
18: 70,658,590 (GRCm39) |
E134G |
probably benign |
Het |
| Pramel11 |
T |
A |
4: 143,624,371 (GRCm39) |
D42V |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,479,839 (GRCm39) |
I1144F |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 23,024,977 (GRCm39) |
T1738S |
probably damaging |
Het |
| Pxdc1 |
A |
G |
13: 34,836,267 (GRCm39) |
L51P |
probably damaging |
Het |
| Rabepk |
C |
T |
2: 34,669,308 (GRCm39) |
G362S |
probably damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rhd |
T |
A |
4: 134,611,820 (GRCm39) |
|
probably null |
Het |
| Rpp14 |
T |
C |
14: 8,090,453 (GRCm38) |
S126P |
probably damaging |
Het |
| Scn7a |
C |
T |
2: 66,506,536 (GRCm39) |
C1451Y |
probably damaging |
Het |
| Sdr39u1 |
G |
A |
14: 56,135,191 (GRCm39) |
R251* |
probably null |
Het |
| Sephs2 |
G |
T |
7: 126,872,506 (GRCm39) |
P196T |
possibly damaging |
Het |
| Slc22a16 |
T |
C |
10: 40,450,085 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Spg11 |
C |
A |
2: 121,899,361 (GRCm39) |
V1575F |
probably damaging |
Het |
| Sqle |
C |
T |
15: 59,187,890 (GRCm39) |
S66L |
probably benign |
Het |
| Tas2r124 |
T |
G |
6: 132,732,056 (GRCm39) |
W122G |
probably damaging |
Het |
| Tex52 |
A |
T |
6: 128,361,921 (GRCm39) |
|
probably null |
Het |
| Thoc1 |
T |
A |
18: 9,993,454 (GRCm39) |
C604* |
probably null |
Het |
| Tmc3 |
T |
C |
7: 83,246,666 (GRCm39) |
S136P |
probably damaging |
Het |
| Tmem212 |
T |
A |
3: 27,950,462 (GRCm39) |
T11S |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,468,727 (GRCm39) |
N1147S |
probably benign |
Het |
| Uggt2 |
A |
G |
14: 119,312,759 (GRCm39) |
I350T |
probably damaging |
Het |
| Ust |
A |
T |
10: 8,083,339 (GRCm39) |
Y346N |
probably damaging |
Het |
| Vwa8 |
A |
G |
14: 79,335,740 (GRCm39) |
T1399A |
probably benign |
Het |
| Zc3h18 |
G |
A |
8: 123,140,615 (GRCm39) |
R850Q |
unknown |
Het |
| Zfp800 |
C |
A |
6: 28,244,193 (GRCm39) |
K257N |
probably damaging |
Het |
| Zfp985 |
T |
A |
4: 147,667,331 (GRCm39) |
D66E |
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 |
|
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 |
|
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'- CCCTAGTTTTACCAACTTACAAATGGC -3'
(R):5'- TCATGCAAGTGAGTGCTAGG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CAAGTGAGTGCTAGGCTCCAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation