Incidental Mutation 'R7410:Crat'
ID |
574975 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crat
|
Ensembl Gene |
ENSMUSG00000026853 |
Gene Name |
carnitine acetyltransferase |
Synonyms |
CARAT |
MMRRC Submission |
045491-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
R7410 (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: 99.6%
- 20x: 98.8%
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210017I01Rik |
A |
G |
3: 92,512,551 (GRCm39) |
S3P |
unknown |
Het |
Adgrv1 |
A |
T |
13: 81,711,738 (GRCm39) |
D1079E |
probably benign |
Het |
Agbl5 |
A |
T |
5: 31,048,032 (GRCm39) |
Y102F |
possibly damaging |
Het |
Ankfy1 |
T |
C |
11: 72,652,330 (GRCm39) |
L1094S |
probably damaging |
Het |
Ankrd42 |
A |
T |
7: 92,259,762 (GRCm39) |
V337E |
possibly damaging |
Het |
Axl |
A |
G |
7: 25,458,208 (GRCm39) |
L849P |
probably benign |
Het |
Bmpr2 |
T |
C |
1: 59,907,652 (GRCm39) |
I915T |
probably benign |
Het |
Cables1 |
T |
A |
18: 12,074,282 (GRCm39) |
F494L |
probably benign |
Het |
Cacna1e |
A |
C |
1: 154,347,980 (GRCm39) |
V927G |
probably benign |
Het |
Cavin1 |
A |
T |
11: 100,849,670 (GRCm39) |
V320E |
probably damaging |
Het |
Cemip |
T |
G |
7: 83,602,042 (GRCm39) |
S916R |
probably damaging |
Het |
Cep57 |
G |
A |
9: 13,729,980 (GRCm39) |
|
probably benign |
Het |
Ces1d |
T |
C |
8: 93,919,433 (GRCm39) |
N120D |
probably damaging |
Het |
Cfap44 |
A |
T |
16: 44,288,776 (GRCm39) |
S1509C |
probably damaging |
Het |
Chga |
A |
G |
12: 102,528,866 (GRCm39) |
D281G |
probably benign |
Het |
Clstn2 |
A |
G |
9: 97,423,920 (GRCm39) |
F282L |
probably benign |
Het |
Cnot1 |
A |
T |
8: 96,459,787 (GRCm39) |
V1855E |
possibly damaging |
Het |
Cnr1 |
T |
A |
4: 33,944,119 (GRCm39) |
V169D |
probably damaging |
Het |
Cpd |
T |
A |
11: 76,673,134 (GRCm39) |
H1337L |
probably damaging |
Het |
Crabp2 |
T |
A |
3: 87,859,585 (GRCm39) |
D78E |
probably damaging |
Het |
Cyp2ab1 |
G |
A |
16: 20,135,475 (GRCm39) |
A9V |
probably benign |
Het |
Cyp3a41b |
T |
C |
5: 145,514,967 (GRCm39) |
D86G |
probably damaging |
Het |
Dner |
T |
A |
1: 84,563,332 (GRCm39) |
D96V |
probably damaging |
Het |
Duox1 |
C |
A |
2: 122,176,874 (GRCm39) |
T1465N |
probably damaging |
Het |
Ehd3 |
T |
A |
17: 74,112,428 (GRCm39) |
V64E |
probably benign |
Het |
Ehmt1 |
A |
G |
2: 24,738,080 (GRCm39) |
V508A |
probably benign |
Het |
Ephb3 |
G |
A |
16: 21,040,158 (GRCm39) |
V761I |
possibly damaging |
Het |
Fam161b |
T |
C |
12: 84,404,575 (GRCm39) |
Q35R |
probably benign |
Het |
Fam186a |
T |
A |
15: 99,844,826 (GRCm39) |
K473* |
probably null |
Het |
Fam227b |
A |
T |
2: 125,960,983 (GRCm39) |
D215E |
probably damaging |
Het |
Fkbp15 |
C |
A |
4: 62,258,536 (GRCm39) |
D144Y |
probably damaging |
Het |
Galt |
T |
C |
4: 41,757,707 (GRCm39) |
I259T |
possibly damaging |
Het |
Gbp11 |
G |
A |
5: 105,491,774 (GRCm39) |
P8S |
probably damaging |
Het |
Gfap |
A |
T |
11: 102,783,963 (GRCm39) |
M339K |
probably damaging |
Het |
Gm14443 |
C |
T |
2: 175,011,069 (GRCm39) |
R459Q |
possibly damaging |
Het |
Grip1 |
A |
G |
10: 119,855,925 (GRCm39) |
N632S |
probably benign |
Het |
H4c18 |
G |
A |
13: 22,016,211 (GRCm39) |
R40W |
probably damaging |
Het |
Hcar1 |
T |
G |
5: 124,017,161 (GRCm39) |
I177L |
possibly damaging |
Het |
Ighv1-37 |
A |
G |
12: 114,860,099 (GRCm39) |
V37A |
probably damaging |
Het |
Ilf3 |
T |
A |
9: 21,311,100 (GRCm39) |
F657L |
unknown |
Het |
Ints2 |
T |
G |
11: 86,124,052 (GRCm39) |
T579P |
probably benign |
Het |
Iqgap1 |
G |
T |
7: 80,372,778 (GRCm39) |
Y1520* |
probably null |
Het |
Kdm4a |
T |
C |
4: 118,001,115 (GRCm39) |
H884R |
possibly damaging |
Het |
Krtap19-1 |
A |
T |
16: 88,666,132 (GRCm39) |
Y52N |
unknown |
Het |
Lama5 |
A |
T |
2: 179,844,183 (GRCm39) |
|
probably null |
Het |
Lrrc72 |
T |
C |
12: 36,272,803 (GRCm39) |
N89D |
probably damaging |
Het |
Med13l |
A |
G |
5: 118,698,897 (GRCm39) |
D16G |
possibly damaging |
Het |
Mefv |
A |
G |
16: 3,533,545 (GRCm39) |
L242P |
probably damaging |
Het |
Mob3c |
T |
C |
4: 115,688,784 (GRCm39) |
Y106H |
probably damaging |
Het |
Nlrp1a |
A |
G |
11: 71,014,683 (GRCm39) |
I189T |
probably damaging |
Het |
Nudt7 |
T |
C |
8: 114,860,559 (GRCm39) |
|
probably benign |
Het |
Or13p10 |
T |
C |
4: 118,523,629 (GRCm39) |
L305P |
probably benign |
Het |
Or4f7 |
T |
A |
2: 111,644,271 (GRCm39) |
I267L |
probably benign |
Het |
Pappa |
A |
G |
4: 65,253,956 (GRCm39) |
T1537A |
probably damaging |
Het |
Pik3r4 |
T |
A |
9: 105,527,790 (GRCm39) |
V381E |
probably damaging |
Het |
Pkd1 |
T |
A |
17: 24,794,855 (GRCm39) |
Y2181N |
probably damaging |
Het |
Pmel |
G |
T |
10: 128,552,353 (GRCm39) |
V396F |
probably benign |
Het |
Prdm9 |
A |
G |
17: 15,765,259 (GRCm39) |
I507T |
possibly damaging |
Het |
Psme4 |
C |
T |
11: 30,765,279 (GRCm39) |
Q549* |
probably null |
Het |
Ptprg |
T |
A |
14: 11,962,657 (GRCm38) |
W152R |
probably damaging |
Het |
Ptprm |
A |
C |
17: 67,000,561 (GRCm39) |
V1141G |
probably damaging |
Het |
Rapgef5 |
G |
A |
12: 117,685,063 (GRCm39) |
V505M |
probably damaging |
Het |
Rnf213 |
T |
A |
11: 119,325,877 (GRCm39) |
M1558K |
|
Het |
Slc35a1 |
A |
G |
4: 34,675,034 (GRCm39) |
V168A |
probably benign |
Het |
Srebf1 |
T |
C |
11: 60,096,693 (GRCm39) |
T347A |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,531,978 (GRCm39) |
V2745D |
probably benign |
Het |
Taar7e |
A |
T |
10: 23,914,424 (GRCm39) |
T305S |
probably benign |
Het |
Tie1 |
T |
C |
4: 118,337,074 (GRCm39) |
S551G |
probably benign |
Het |
Tmc5 |
T |
A |
7: 118,222,820 (GRCm39) |
Y173* |
probably null |
Het |
Tns2 |
T |
A |
15: 102,018,961 (GRCm39) |
V384D |
probably damaging |
Het |
Tubgcp4 |
T |
A |
2: 121,014,890 (GRCm39) |
Y267N |
probably damaging |
Het |
Vmn1r53 |
A |
G |
6: 90,200,700 (GRCm39) |
V208A |
probably damaging |
Het |
Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
Wdfy4 |
T |
C |
14: 32,696,191 (GRCm39) |
D2784G |
|
Het |
Zfp712 |
A |
C |
13: 67,189,400 (GRCm39) |
S376A |
probably benign |
Het |
Znrf3 |
C |
T |
11: 5,238,955 (GRCm39) |
C232Y |
unknown |
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 |
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'- TAGGATGACCCTAGTTTTACCAAC -3'
(R):5'- TCCGTCCACTCATGCAAGTG -3'
Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- CTCATGCAAGTGAGTGCTAGGC -3'
|
Posted On |
2019-10-07 |