Incidental Mutation 'R4553:Crat'
| ID |
341766 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| MMRRC Submission |
041595-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.239)
|
| Stock # |
R4553 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30290483-30305825 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30298229 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 157
(T157A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099919
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000129494]
[ENSMUST00000132981]
[ENSMUST00000134120]
[ENSMUST00000156702]
[ENSMUST00000154595]
|
| AlphaFold |
P47934 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028207
AA Change: T157A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: T157A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
616 |
1.9e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102854
AA Change: T136A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: T136A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102855
AA Change: T157A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: T157A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
35 |
615 |
2.4e-195 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129494
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132981
AA Change: T157A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853
AA Change: T157A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
76 |
2.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134120
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146822
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156702
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154595
|
| SMART Domains |
Protein: ENSMUSP00000114925
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
1 |
132 |
1.4e-45 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500011B03Rik |
T |
C |
5: 114,951,254 (GRCm39) |
Y49C |
probably damaging |
Het |
| Adat1 |
T |
C |
8: 112,716,912 (GRCm39) |
T32A |
probably damaging |
Het |
| Adra2a |
T |
C |
19: 54,035,166 (GRCm39) |
V174A |
possibly damaging |
Het |
| Armcx5 |
T |
A |
X: 134,647,256 (GRCm39) |
V444D |
probably damaging |
Het |
| Cand2 |
C |
A |
6: 115,769,172 (GRCm39) |
R661S |
probably damaging |
Het |
| Cd274 |
T |
C |
19: 29,357,848 (GRCm39) |
V180A |
probably benign |
Het |
| Cts6 |
G |
A |
13: 61,345,407 (GRCm39) |
P230L |
probably damaging |
Het |
| Dppa2 |
A |
G |
16: 48,130,877 (GRCm39) |
Y3C |
possibly damaging |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Garin1a |
A |
G |
6: 29,287,705 (GRCm39) |
I210M |
probably benign |
Het |
| Gsap |
A |
T |
5: 21,495,569 (GRCm39) |
D79V |
probably damaging |
Het |
| Hgfac |
T |
A |
5: 35,200,200 (GRCm39) |
C130S |
probably damaging |
Het |
| Ifi35 |
T |
C |
11: 101,348,717 (GRCm39) |
V188A |
probably damaging |
Het |
| Iqsec2 |
A |
G |
X: 150,994,277 (GRCm39) |
H585R |
probably benign |
Het |
| Itih4 |
T |
C |
14: 30,622,910 (GRCm39) |
L842P |
probably damaging |
Het |
| Kif3a |
C |
A |
11: 53,469,745 (GRCm39) |
L119I |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,343,629 (GRCm39) |
D910G |
probably benign |
Het |
| Lyve1 |
T |
C |
7: 110,451,567 (GRCm39) |
|
probably null |
Het |
| Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
| Mx2 |
A |
G |
16: 97,353,205 (GRCm39) |
T398A |
possibly damaging |
Het |
| Nlrp4e |
T |
C |
7: 23,020,404 (GRCm39) |
M297T |
probably benign |
Het |
| Nog |
A |
G |
11: 89,192,248 (GRCm39) |
L200P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Phf11b |
G |
A |
14: 59,578,734 (GRCm39) |
P11S |
probably benign |
Het |
| Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
| Pld1 |
G |
T |
3: 28,178,851 (GRCm39) |
R915L |
probably benign |
Het |
| Sell |
C |
T |
1: 163,899,685 (GRCm39) |
T34I |
probably benign |
Het |
| Slc34a1 |
G |
A |
13: 55,559,874 (GRCm39) |
|
probably null |
Het |
| Slc8b1 |
T |
C |
5: 120,667,663 (GRCm39) |
V432A |
probably damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,661,015 (GRCm39) |
T700A |
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 |
|
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 |
|
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'- TGGCAATGGAGGTCACAACTAG -3'
(R):5'- CCTCAAGACCTGTAGTTTCACC -3'
Sequencing Primer
(F):5'- CACAACTAGTGCAGCACGGG -3'
(R):5'- AAGACCTGTAGTTTCACCTTTACAC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation