Incidental Mutation 'IGL02228:Crat'
| ID |
285402 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| Accession Numbers |
|
| Is this an essential gene? |
Probably non essential
(E-score: 0.233)
|
| Stock # |
IGL02228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
30400471-30415813 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30413182 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 31
(H31R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000042055]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000113601]
[ENSMUST00000113603]
[ENSMUST00000129494]
[ENSMUST00000132981]
[ENSMUST00000134120]
[ENSMUST00000156702]
[ENSMUST00000152165]
[ENSMUST00000142096]
|
| AlphaFold |
P47934 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028207
AA Change: H31R
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: H31R
| 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 |
possibly damaging
Transcript: ENSMUST00000102854
AA Change: H10R
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: H10R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102855
AA Change: H31R
PolyPhen 2
Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: H31R
| 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 |
unknown
Transcript: ENSMUST00000129494
AA Change: H55R
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000132981
AA Change: H31R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853
AA Change: H31R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
76 |
2.3e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134120
AA Change: H31R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146822
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134920
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159932
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156702
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152165
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142096
|
| Coding Region Coverage |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
C |
12: 84,016,964 |
V282A |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,531,866 |
D169G |
probably damaging |
Het |
| Adam8 |
C |
T |
7: 139,988,806 |
|
probably null |
Het |
| Agpat1 |
T |
C |
17: 34,610,562 |
F37L |
possibly damaging |
Het |
| Asah2 |
A |
T |
19: 32,016,714 |
D410E |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,246,800 |
V378D |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,254,885 |
Y130C |
possibly damaging |
Het |
| B020004J07Rik |
T |
C |
4: 101,836,858 |
Y276C |
probably benign |
Het |
| Bnc2 |
T |
C |
4: 84,293,076 |
H419R |
possibly damaging |
Het |
| Capza3 |
A |
G |
6: 140,041,915 |
D80G |
probably benign |
Het |
| Col6a4 |
C |
T |
9: 106,068,078 |
D946N |
probably benign |
Het |
| Dsc2 |
A |
G |
18: 20,043,733 |
V419A |
probably damaging |
Het |
| Ebf1 |
T |
C |
11: 44,972,912 |
V363A |
probably damaging |
Het |
| Gm13119 |
A |
G |
4: 144,362,661 |
K183R |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 34,047,424 |
F24S |
probably damaging |
Het |
| Lgmn |
G |
A |
12: 102,395,714 |
T376I |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,811,864 |
L47F |
probably benign |
Het |
| Mier1 |
T |
A |
4: 103,131,062 |
M44K |
possibly damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,062,987 |
Q439K |
probably benign |
Het |
| Olfr303 |
A |
C |
7: 86,395,078 |
I140S |
possibly damaging |
Het |
| Pcgf6 |
A |
C |
19: 47,047,982 |
F216C |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,389,474 |
R1732K |
probably benign |
Het |
| Rbbp4 |
A |
T |
4: 129,317,750 |
H370Q |
probably damaging |
Het |
| Reln |
A |
G |
5: 21,904,731 |
V3127A |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,042,231 |
V1019E |
probably damaging |
Het |
| Serpina9 |
C |
T |
12: 104,008,600 |
R98Q |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,230,798 |
G324V |
probably damaging |
Het |
| Slc22a3 |
A |
G |
17: 12,459,810 |
L209P |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,813,734 |
T1695S |
probably damaging |
Het |
| Tulp3 |
G |
A |
6: 128,334,485 |
T74M |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 59,288,396 |
|
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,281,686 |
S23T |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,608,428 |
E1509G |
possibly damaging |
Het |
| Wnk2 |
A |
T |
13: 49,056,940 |
I1801N |
probably damaging |
Het |
|
| Other mutations in Crat |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01294:Crat
|
APN |
2 |
30405187 |
missense |
probably damaging |
0.99 |
|
IGL01357:Crat
|
APN |
2 |
30407724 |
missense |
probably damaging |
1.00 |
|
IGL01538:Crat
|
APN |
2 |
30409966 |
missense |
probably damaging |
1.00 |
|
IGL01973:Crat
|
APN |
2 |
30405481 |
missense |
probably damaging |
0.98 |
|
IGL02408:Crat
|
APN |
2 |
30407134 |
missense |
probably damaging |
1.00 |
|
IGL02569:Crat
|
APN |
2 |
30404530 |
missense |
probably damaging |
0.99 |
|
IGL02637:Crat
|
APN |
2 |
30406389 |
missense |
probably benign |
0.06 |
|
IGL02983:Crat
|
APN |
2 |
30404526 |
critical splice donor site |
probably null |
|
|
IGL03395:Crat
|
APN |
2 |
30404966 |
missense |
probably benign |
0.11 |
|
Charlie
|
UTSW |
2 |
30403541 |
missense |
probably damaging |
1.00 |
|
demo
|
UTSW |
2 |
30402691 |
missense |
probably damaging |
1.00 |
|
veruca
|
UTSW |
2 |
30403628 |
unclassified |
probably benign |
|
|
R0136:Crat
|
UTSW |
2 |
30407030 |
missense |
probably benign |
|
|
R0389:Crat
|
UTSW |
2 |
30403628 |
unclassified |
probably benign |
|
|
R0443:Crat
|
UTSW |
2 |
30403628 |
unclassified |
probably benign |
|
|
R0619:Crat
|
UTSW |
2 |
30409984 |
missense |
probably benign |
0.14 |
|
R1938:Crat
|
UTSW |
2 |
30413061 |
missense |
probably benign |
|
|
R1990:Crat
|
UTSW |
2 |
30405048 |
missense |
possibly damaging |
0.93 |
|
R2113:Crat
|
UTSW |
2 |
30402642 |
missense |
probably benign |
0.00 |
|
R2655:Crat
|
UTSW |
2 |
30402691 |
missense |
probably damaging |
1.00 |
|
R3150:Crat
|
UTSW |
2 |
30413859 |
critical splice donor site |
probably null |
|
|
R4231:Crat
|
UTSW |
2 |
30413011 |
missense |
possibly damaging |
0.95 |
|
R4553:Crat
|
UTSW |
2 |
30408217 |
missense |
probably benign |
0.00 |
|
R4592:Crat
|
UTSW |
2 |
30415366 |
utr 5 prime |
probably benign |
|
|
R4718:Crat
|
UTSW |
2 |
30408164 |
nonsense |
probably null |
|
|
R4808:Crat
|
UTSW |
2 |
30410021 |
missense |
probably benign |
0.01 |
|
R4982:Crat
|
UTSW |
2 |
30407136 |
critical splice acceptor site |
probably null |
|
|
R5473:Crat
|
UTSW |
2 |
30407714 |
missense |
probably damaging |
1.00 |
|
R6049:Crat
|
UTSW |
2 |
30403541 |
missense |
probably damaging |
1.00 |
|
R6223:Crat
|
UTSW |
2 |
30407030 |
missense |
probably benign |
0.07 |
|
R6774:Crat
|
UTSW |
2 |
30413183 |
missense |
probably damaging |
1.00 |
|
R6885:Crat
|
UTSW |
2 |
30415196 |
splice site |
probably benign |
|
|
R7376:Crat
|
UTSW |
2 |
30406465 |
missense |
probably damaging |
1.00 |
|
R7407:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7408:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7410:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7467:Crat
|
UTSW |
2 |
30409982 |
missense |
probably damaging |
1.00 |
|
R7484:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7514:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7582:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7584:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7585:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7620:Crat
|
UTSW |
2 |
30408078 |
missense |
probably damaging |
0.99 |
|
R7685:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R7686:Crat
|
UTSW |
2 |
30404565 |
missense |
probably benign |
0.01 |
|
R8332:Crat
|
UTSW |
2 |
30405072 |
missense |
possibly damaging |
0.71 |
|
R8554:Crat
|
UTSW |
2 |
30410023 |
missense |
probably benign |
0.36 |
|
R8766:Crat
|
UTSW |
2 |
30407063 |
missense |
probably benign |
0.38 |
|
R8994:Crat
|
UTSW |
2 |
30407875 |
missense |
probably damaging |
1.00 |
|
R9151:Crat
|
UTSW |
2 |
30405040 |
missense |
probably damaging |
1.00 |
|
R9176:Crat
|
UTSW |
2 |
30407880 |
missense |
probably damaging |
1.00 |
|
R9182:Crat
|
UTSW |
2 |
30408073 |
missense |
probably damaging |
0.99 |
|
R9293:Crat
|
UTSW |
2 |
30408202 |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation