Incidental Mutation 'R8554:Crat'
ID |
660000 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Crat
|
Ensembl Gene |
ENSMUSG00000026853 |
Gene Name |
carnitine acetyltransferase |
Synonyms |
CARAT |
MMRRC Submission |
068517-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.215)
|
Stock # |
R8554 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
30290483-30305825 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30300035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 115
(V115A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099919
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028207]
[ENSMUST00000102854]
[ENSMUST00000102855]
[ENSMUST00000129494]
[ENSMUST00000132981]
[ENSMUST00000134120]
[ENSMUST00000142096]
[ENSMUST00000156702]
|
AlphaFold |
P47934 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028207
AA Change: V115A
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000028207 Gene: ENSMUSG00000026853 AA Change: V115A
Domain | Start | End | E-Value | Type |
Pfam:Carn_acyltransf
|
34 |
616 |
1.9e-235 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102854
AA Change: V94A
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099918 Gene: ENSMUSG00000026853 AA Change: V94A
Domain | Start | End | E-Value | Type |
Pfam:Carn_acyltransf
|
13 |
595 |
1.8e-235 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000102855
AA Change: V115A
PolyPhen 2
Score 0.358 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000099919 Gene: ENSMUSG00000026853 AA Change: V115A
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: V115A
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000118507 Gene: ENSMUSG00000026853 AA Change: V115A
Domain | Start | End | E-Value | Type |
Pfam:Carn_acyltransf
|
34 |
76 |
2.3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134120
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142096
|
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adtrp |
G |
A |
13: 41,969,636 (GRCm39) |
T89I |
possibly damaging |
Het |
Aopep |
T |
A |
13: 63,444,711 (GRCm39) |
Y94N |
possibly damaging |
Het |
Apc |
T |
C |
18: 34,445,999 (GRCm39) |
V947A |
probably damaging |
Het |
Apob |
A |
C |
12: 8,037,830 (GRCm39) |
K334N |
probably damaging |
Het |
Camk2d |
A |
T |
3: 126,564,448 (GRCm39) |
Q119L |
possibly damaging |
Het |
Ccdc60 |
A |
T |
5: 116,328,171 (GRCm39) |
F98I |
probably damaging |
Het |
Cd47 |
A |
G |
16: 49,688,304 (GRCm39) |
T22A |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,507,538 (GRCm39) |
M2992V |
probably benign |
Het |
Dsg4 |
T |
A |
18: 20,586,100 (GRCm39) |
N263K |
probably damaging |
Het |
Eln |
A |
C |
5: 134,738,964 (GRCm39) |
|
probably benign |
Het |
Ep300 |
A |
G |
15: 81,523,228 (GRCm39) |
E1284G |
unknown |
Het |
Fam193a |
T |
A |
5: 34,633,115 (GRCm39) |
M122K |
probably benign |
Het |
Fcgr1 |
A |
T |
3: 96,199,788 (GRCm39) |
W40R |
probably damaging |
Het |
Gm3486 |
T |
A |
14: 41,209,119 (GRCm39) |
Q84L |
probably damaging |
Het |
Golga2 |
G |
A |
2: 32,183,357 (GRCm39) |
D80N |
probably damaging |
Het |
Isg20 |
T |
C |
7: 78,566,425 (GRCm39) |
Y125H |
probably benign |
Het |
Kdf1 |
A |
G |
4: 133,256,188 (GRCm39) |
I302V |
probably damaging |
Het |
Kics2 |
T |
A |
10: 121,575,960 (GRCm39) |
I27N |
probably benign |
Het |
Krt33a |
T |
A |
11: 99,903,209 (GRCm39) |
T278S |
possibly damaging |
Het |
Lrp1b |
T |
A |
2: 41,234,495 (GRCm39) |
Q1038L |
probably benign |
Het |
Marchf6 |
G |
A |
15: 31,482,976 (GRCm39) |
H476Y |
probably damaging |
Het |
Myom1 |
A |
G |
17: 71,343,448 (GRCm39) |
E215G |
possibly damaging |
Het |
Or2aa1 |
A |
T |
11: 59,480,312 (GRCm39) |
L201Q |
possibly damaging |
Het |
Or2h15 |
T |
A |
17: 38,441,489 (GRCm39) |
Q198L |
probably damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,595 (GRCm39) |
T148A |
possibly damaging |
Het |
Pate11 |
A |
G |
9: 36,387,788 (GRCm39) |
I25V |
probably benign |
Het |
Pdlim2 |
T |
A |
14: 70,408,698 (GRCm39) |
T173S |
probably benign |
Het |
Pitpnb |
T |
C |
5: 111,494,372 (GRCm39) |
M74T |
probably benign |
Het |
Pou2f2 |
C |
A |
7: 24,814,981 (GRCm39) |
|
probably benign |
Het |
Rab35 |
A |
C |
5: 115,783,690 (GRCm39) |
|
probably null |
Het |
Rasef |
A |
T |
4: 73,645,844 (GRCm39) |
D508E |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,682,838 (GRCm39) |
S319P |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rgl3 |
A |
G |
9: 21,900,159 (GRCm39) |
S44P |
probably benign |
Het |
Rnf214 |
C |
A |
9: 45,778,797 (GRCm39) |
|
probably null |
Het |
Rpsa |
T |
C |
9: 119,958,317 (GRCm39) |
V76A |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
Senp7 |
T |
C |
16: 55,978,973 (GRCm39) |
V529A |
probably benign |
Het |
Siglecg |
C |
T |
7: 43,058,320 (GRCm39) |
S69L |
probably benign |
Het |
Sos1 |
G |
T |
17: 80,705,842 (GRCm39) |
T1243K |
probably damaging |
Het |
Tent5a |
T |
C |
9: 85,208,784 (GRCm39) |
D13G |
possibly damaging |
Het |
Tlcd3a |
A |
G |
11: 76,096,244 (GRCm39) |
H124R |
probably damaging |
Het |
Tmc2 |
A |
G |
2: 130,106,084 (GRCm39) |
T872A |
probably benign |
Het |
Tnfrsf8 |
A |
C |
4: 145,023,511 (GRCm39) |
C107W |
probably damaging |
Het |
Tnn |
T |
C |
1: 159,937,986 (GRCm39) |
Y913C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,568,376 (GRCm39) |
T19179A |
probably damaging |
Het |
Usp42 |
T |
A |
5: 143,706,137 (GRCm39) |
K294N |
probably damaging |
Het |
Vmn1r123 |
T |
A |
7: 20,896,971 (GRCm39) |
C288S |
probably benign |
Het |
Vmn1r29 |
T |
A |
6: 58,285,191 (GRCm39) |
*304K |
probably null |
Het |
Vmn2r1 |
T |
C |
3: 63,997,334 (GRCm39) |
I330T |
probably damaging |
Het |
Vmn2r16 |
A |
G |
5: 109,511,997 (GRCm39) |
I735V |
probably benign |
Het |
Vmn2r65 |
T |
C |
7: 84,595,960 (GRCm39) |
I241M |
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 |
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 |
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'- GCCTTTCCAGTTTCCTAGGG -3'
(R):5'- CCTGGCCAAGTTTGCTTATAGTTG -3'
Sequencing Primer
(F):5'- CCAGTTTCCTAGGGTGCAG -3'
(R):5'- TCTCTAGGCAGTACCAGTCG -3'
|
Posted On |
2021-01-18 |