Incidental Mutation 'R4718:Crat'
| ID |
354187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Crat
|
| Ensembl Gene |
ENSMUSG00000026853 |
| Gene Name |
carnitine acetyltransferase |
| Synonyms |
CARAT |
| MMRRC Submission |
041985-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.215)
|
| Stock # |
R4718 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
30290483-30305825 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 30298176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 174
(Y174*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118507
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000129494]
[ENSMUST00000132981]
[ENSMUST00000134120]
[ENSMUST00000154595]
[ENSMUST00000156702]
|
| AlphaFold |
P47934 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028207
AA Change: Y174*
|
| SMART Domains |
Protein: ENSMUSP00000028207
Gene: ENSMUSG00000026853
AA Change: Y174*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
34 |
616 |
1.9e-235 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102854
AA Change: Y153*
|
| SMART Domains |
Protein: ENSMUSP00000099918
Gene: ENSMUSG00000026853
AA Change: Y153*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000102855
AA Change: Y174*
|
| SMART Domains |
Protein: ENSMUSP00000099919
Gene: ENSMUSG00000026853
AA Change: Y174*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
35 |
615 |
2.4e-195 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129494
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000132981
AA Change: Y174*
|
| SMART Domains |
Protein: ENSMUSP00000118507
Gene: ENSMUSG00000026853
AA Change: Y174*
| 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: ENSMUST00000154595
|
| SMART Domains |
Protein: ENSMUSP00000114925
Gene: ENSMUSG00000026853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
1 |
132 |
1.4e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156702
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
G |
A |
5: 115,001,615 (GRCm39) |
|
probably null |
Het |
| Acsm2 |
A |
T |
7: 119,172,826 (GRCm39) |
Y147F |
probably damaging |
Het |
| Alg12 |
A |
T |
15: 88,690,256 (GRCm39) |
Y413N |
probably damaging |
Het |
| Arrdc3 |
A |
T |
13: 81,031,986 (GRCm39) |
Q73L |
possibly damaging |
Het |
| Atp13a5 |
T |
C |
16: 29,066,922 (GRCm39) |
K1017E |
probably damaging |
Het |
| Bmal1 |
A |
T |
7: 112,902,568 (GRCm39) |
I399F |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,380,196 (GRCm39) |
N704D |
possibly damaging |
Het |
| Bsph1 |
T |
A |
7: 13,206,107 (GRCm39) |
Y47* |
probably null |
Het |
| Csmd3 |
G |
T |
15: 47,561,546 (GRCm39) |
Y2254* |
probably null |
Het |
| Cyld |
T |
A |
8: 89,468,933 (GRCm39) |
I568N |
probably damaging |
Het |
| Dapl1 |
T |
C |
2: 59,315,072 (GRCm39) |
V7A |
probably benign |
Het |
| Dhx29 |
G |
A |
13: 113,083,469 (GRCm39) |
R508H |
unknown |
Het |
| Dnah9 |
A |
G |
11: 65,976,299 (GRCm39) |
I1250T |
probably benign |
Het |
| Dnajb3 |
C |
T |
1: 88,133,061 (GRCm39) |
D114N |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,530,986 (GRCm39) |
N446D |
probably damaging |
Het |
| Dthd1 |
T |
A |
5: 62,976,136 (GRCm39) |
V270E |
probably damaging |
Het |
| F2rl3 |
A |
C |
8: 73,489,536 (GRCm39) |
R254S |
possibly damaging |
Het |
| Fgfr2 |
A |
G |
7: 129,863,518 (GRCm39) |
S24P |
probably damaging |
Het |
| Fpr2 |
T |
C |
17: 18,113,598 (GRCm39) |
V198A |
probably benign |
Het |
| Gbp2b |
G |
A |
3: 142,304,756 (GRCm39) |
G64D |
probably damaging |
Het |
| Gbp9 |
T |
G |
5: 105,231,624 (GRCm39) |
N321H |
probably damaging |
Het |
| Gk2 |
T |
A |
5: 97,603,725 (GRCm39) |
Y371F |
probably benign |
Het |
| Gm10382 |
T |
C |
5: 125,466,462 (GRCm39) |
|
probably benign |
Het |
| Gpatch3 |
A |
G |
4: 133,309,855 (GRCm39) |
D396G |
probably benign |
Het |
| Heatr5a |
A |
C |
12: 51,962,946 (GRCm39) |
L985V |
possibly damaging |
Het |
| Homer1 |
T |
A |
13: 93,528,272 (GRCm39) |
V269E |
probably damaging |
Het |
| Hspbap1 |
T |
C |
16: 35,607,692 (GRCm39) |
V66A |
probably benign |
Het |
| Ighv7-2 |
A |
C |
12: 113,876,089 (GRCm39) |
I5M |
possibly damaging |
Het |
| Ints7 |
T |
A |
1: 191,315,389 (GRCm39) |
F108Y |
possibly damaging |
Het |
| Itga7 |
CT |
CTGGGGATT |
10: 128,776,603 (GRCm39) |
|
probably null |
Het |
| Junb |
G |
A |
8: 85,705,061 (GRCm39) |
|
probably benign |
Het |
| Lcp2 |
A |
G |
11: 34,020,992 (GRCm39) |
N116S |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,006,431 (GRCm39) |
T14A |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,601,092 (GRCm39) |
H41Q |
probably damaging |
Het |
| Ltb |
C |
A |
17: 35,414,313 (GRCm39) |
|
probably null |
Het |
| Mapk7 |
A |
G |
11: 61,380,080 (GRCm39) |
S693P |
possibly damaging |
Het |
| Mbd5 |
A |
T |
2: 49,146,414 (GRCm39) |
H208L |
possibly damaging |
Het |
| Megf9 |
A |
T |
4: 70,367,015 (GRCm39) |
S322R |
possibly damaging |
Het |
| Mgat4c |
T |
C |
10: 102,224,467 (GRCm39) |
V227A |
probably damaging |
Het |
| Mospd3 |
G |
A |
5: 137,597,915 (GRCm39) |
T151M |
probably benign |
Het |
| Mpl |
A |
G |
4: 118,313,921 (GRCm39) |
S115P |
probably benign |
Het |
| Myo6 |
C |
A |
9: 80,153,799 (GRCm39) |
D258E |
probably benign |
Het |
| N4bp2 |
G |
A |
5: 65,960,806 (GRCm39) |
M492I |
probably damaging |
Het |
| Ndst3 |
G |
A |
3: 123,465,915 (GRCm39) |
A19V |
probably benign |
Het |
| Nkx2-3 |
C |
A |
19: 43,601,082 (GRCm39) |
T48K |
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,342,803 (GRCm39) |
T281A |
probably benign |
Het |
| Nmur1 |
A |
G |
1: 86,315,463 (GRCm39) |
V157A |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,912,780 (GRCm39) |
F6992L |
probably damaging |
Het |
| Ocm |
G |
T |
5: 143,961,375 (GRCm39) |
P22Q |
possibly damaging |
Het |
| Or5be3 |
T |
C |
2: 86,864,239 (GRCm39) |
T109A |
probably damaging |
Het |
| Osbp2 |
C |
A |
11: 3,661,793 (GRCm39) |
C753F |
probably damaging |
Het |
| Pabpc2 |
A |
G |
18: 39,907,556 (GRCm39) |
T274A |
probably benign |
Het |
| Pamr1 |
T |
A |
2: 102,472,681 (GRCm39) |
I660N |
probably damaging |
Het |
| Papola |
C |
T |
12: 105,786,707 (GRCm39) |
T466I |
possibly damaging |
Het |
| Pask |
T |
C |
1: 93,249,918 (GRCm39) |
E494G |
possibly damaging |
Het |
| Pck1 |
A |
T |
2: 172,997,014 (GRCm39) |
I219F |
probably damaging |
Het |
| Pgm3 |
T |
C |
9: 86,452,448 (GRCm39) |
E4G |
probably benign |
Het |
| Pgs1 |
A |
G |
11: 117,896,709 (GRCm39) |
H462R |
probably damaging |
Het |
| Phlpp2 |
T |
A |
8: 110,667,452 (GRCm39) |
M1327K |
probably benign |
Het |
| Pkhd1 |
C |
A |
1: 20,151,452 (GRCm39) |
G3815W |
probably damaging |
Het |
| Plin4 |
T |
A |
17: 56,413,981 (GRCm39) |
I215F |
possibly damaging |
Het |
| Plod1 |
T |
G |
4: 148,000,701 (GRCm39) |
|
probably benign |
Het |
| Ppfia2 |
T |
C |
10: 106,694,146 (GRCm39) |
S707P |
probably damaging |
Het |
| Psmd12 |
A |
G |
11: 107,377,259 (GRCm39) |
Q86R |
probably benign |
Het |
| Rasgrf2 |
C |
A |
13: 92,138,716 (GRCm39) |
|
probably null |
Het |
| Rictor |
T |
C |
15: 6,812,641 (GRCm39) |
S926P |
possibly damaging |
Het |
| Rras2 |
A |
T |
7: 113,649,584 (GRCm39) |
I160N |
probably benign |
Het |
| Slc27a6 |
A |
T |
18: 58,738,138 (GRCm39) |
Y398F |
probably benign |
Het |
| Speer4f1 |
A |
G |
5: 17,685,422 (GRCm39) |
E239G |
unknown |
Het |
| Sppl2c |
T |
C |
11: 104,079,141 (GRCm39) |
I647T |
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,921,074 (GRCm39) |
Y2467C |
probably damaging |
Het |
| Sptbn1 |
G |
T |
11: 30,104,297 (GRCm39) |
H136N |
probably damaging |
Het |
| Stau2 |
T |
C |
1: 16,416,269 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
T |
13: 3,624,495 (GRCm39) |
D1818E |
probably benign |
Het |
| Tet1 |
T |
A |
10: 62,649,591 (GRCm39) |
I40F |
probably damaging |
Het |
| Tnfaip2 |
A |
G |
12: 111,412,463 (GRCm39) |
E288G |
possibly damaging |
Het |
| Trav7-5 |
T |
A |
14: 53,768,610 (GRCm39) |
H59Q |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,727,631 (GRCm39) |
I984V |
probably benign |
Het |
| Wdfy4 |
A |
G |
14: 32,867,273 (GRCm39) |
I403T |
probably benign |
Het |
| Yars2 |
T |
A |
16: 16,127,204 (GRCm39) |
M423K |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,819,521 (GRCm39) |
V272D |
possibly damaging |
Het |
| Zmynd11 |
A |
T |
13: 9,739,603 (GRCm39) |
V478D |
possibly 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 |
|
|
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'- AGAGAAGGACCACTAGCCTCTC -3'
(R):5'- GGTGACACCAAGGAATAAGTCCC -3'
Sequencing Primer
(F):5'- CCTTGGCAATGGAGGTCACAAC -3'
(R):5'- CCTCACCCAGATCAAAGTAGTATAG -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation