Incidental Mutation 'R8362:Cpt1a'
| ID |
646029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpt1a
|
| Ensembl Gene |
ENSMUSG00000024900 |
| Gene Name |
carnitine palmitoyltransferase 1a, liver |
| Synonyms |
Cpt1, CPTI, L-CPT I |
| MMRRC Submission |
067808-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
3372334-3435733 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 3420744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 401
(R401*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025835
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025835]
|
| AlphaFold |
P97742 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000025835
AA Change: R401*
|
| SMART Domains |
Protein: ENSMUSP00000025835
Gene: ENSMUSG00000024900
AA Change: R401*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPT_N
|
1 |
47 |
2.3e-30 |
PFAM |
|
transmembrane domain
|
49 |
71 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
Pfam:Carn_acyltransf
|
171 |
762 |
6e-186 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The mitochondrial oxidation of long-chain fatty acids is initiated by the sequential action of carnitine palmitoyltransferase I (which is located in the outer membrane and is detergent-labile) and carnitine palmitoyltransferase II (which is located in the inner membrane and is detergent-stable), together with a carnitine-acylcarnitine translocase. CPT I is the key enzyme in the carnitine-dependent transport across the mitochondrial inner membrane and its deficiency results in a decreased rate of fatty acid beta-oxidation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. Heterozygous null mice display decreased serum glucose and increased serum free fatty acid levels after fasting. [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 |
|---|
| 1810009A15Rik |
T |
A |
19: 8,867,395 (GRCm39) |
S65T |
probably damaging |
Het |
| Abcb1b |
A |
T |
5: 8,848,758 (GRCm39) |
N6I |
probably benign |
Het |
| Abr |
A |
T |
11: 76,369,954 (GRCm39) |
I145N |
probably benign |
Het |
| Alcam |
A |
T |
16: 52,115,387 (GRCm39) |
Y244N |
probably damaging |
Het |
| Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,618,797 (GRCm39) |
L1685Q |
probably damaging |
Het |
| Ascc3 |
A |
C |
10: 50,518,692 (GRCm39) |
Q332H |
possibly damaging |
Het |
| Cdc42bpa |
C |
T |
1: 179,989,690 (GRCm39) |
L1720F |
probably damaging |
Het |
| Clec4b1 |
T |
C |
6: 123,027,602 (GRCm39) |
S20P |
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,576,788 (GRCm39) |
Y3013N |
probably damaging |
Het |
| Dop1a |
G |
A |
9: 86,395,941 (GRCm39) |
R801H |
probably benign |
Het |
| Flywch1 |
G |
T |
17: 23,975,682 (GRCm39) |
T520N |
probably damaging |
Het |
| Fndc1 |
A |
G |
17: 8,001,207 (GRCm39) |
S190P |
unknown |
Het |
| Gabra1 |
G |
T |
11: 42,066,831 (GRCm39) |
Q28K |
probably benign |
Het |
| Gria2 |
T |
C |
3: 80,615,197 (GRCm39) |
M428V |
possibly damaging |
Het |
| H13 |
T |
A |
2: 152,528,311 (GRCm39) |
I220N |
unknown |
Het |
| Hars2 |
T |
A |
18: 36,923,228 (GRCm39) |
F412L |
probably benign |
Het |
| Hecw2 |
A |
T |
1: 54,079,650 (GRCm39) |
M1K |
probably null |
Het |
| Homer1 |
T |
A |
13: 93,502,797 (GRCm39) |
S192T |
unknown |
Het |
| Itga2b |
T |
A |
11: 102,352,189 (GRCm39) |
D464V |
probably damaging |
Het |
| Ivd |
T |
A |
2: 118,708,422 (GRCm39) |
C379S |
probably damaging |
Het |
| Khdc3 |
A |
T |
9: 73,010,848 (GRCm39) |
N233Y |
possibly damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,506,163 (GRCm39) |
V1935A |
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 90,981,423 (GRCm39) |
L15Q |
probably damaging |
Het |
| Megf8 |
C |
A |
7: 25,039,943 (GRCm39) |
P986Q |
probably benign |
Het |
| Morc2b |
G |
T |
17: 33,357,295 (GRCm39) |
T159K |
possibly damaging |
Het |
| Nudt5 |
A |
G |
2: 5,858,322 (GRCm39) |
|
probably null |
Het |
| Or6c211 |
G |
T |
10: 129,506,100 (GRCm39) |
A96E |
possibly damaging |
Het |
| Paqr5 |
A |
T |
9: 61,879,945 (GRCm39) |
Y116* |
probably null |
Het |
| Pcnx1 |
A |
C |
12: 82,013,830 (GRCm39) |
S623R |
|
Het |
| Polr1a |
T |
C |
6: 71,941,651 (GRCm39) |
V1053A |
probably benign |
Het |
| Ptprt |
A |
T |
2: 161,393,667 (GRCm39) |
D1252E |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,620,246 (GRCm39) |
S189P |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,813,485 (GRCm39) |
R620W |
probably damaging |
Het |
| Rbms1 |
C |
T |
2: 60,793,083 (GRCm39) |
M9I |
probably benign |
Het |
| Ska3 |
T |
C |
14: 58,054,105 (GRCm39) |
N282D |
probably benign |
Het |
| Slc25a24 |
T |
A |
3: 109,065,878 (GRCm39) |
I245N |
possibly damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,594,506 (GRCm39) |
V281I |
probably benign |
Het |
| Smg8 |
A |
T |
11: 86,968,881 (GRCm39) |
Y958* |
probably null |
Het |
| Spata31 |
A |
G |
13: 65,070,044 (GRCm39) |
T731A |
possibly damaging |
Het |
| Spg11 |
G |
T |
2: 121,948,842 (GRCm39) |
A3D |
unknown |
Het |
| Srgap1 |
A |
G |
10: 121,691,383 (GRCm39) |
Y284H |
possibly damaging |
Het |
| Stt3b |
A |
G |
9: 115,083,988 (GRCm39) |
I396T |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,931,946 (GRCm39) |
T2160A |
probably damaging |
Het |
| Tprg1l |
G |
C |
4: 154,244,815 (GRCm39) |
T91S |
possibly damaging |
Het |
| Ush2a |
G |
A |
1: 188,689,650 (GRCm39) |
V5071I |
probably damaging |
Het |
| Vmn2r60 |
T |
A |
7: 41,844,954 (GRCm39) |
N772K |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,103,283 (GRCm39) |
W159R |
probably benign |
Het |
| Vmn2r93 |
G |
A |
17: 18,546,353 (GRCm39) |
V742I |
probably benign |
Het |
| Zc3h13 |
C |
A |
14: 75,561,909 (GRCm39) |
H654N |
unknown |
Het |
| Zfp516 |
T |
C |
18: 83,005,019 (GRCm39) |
L641P |
probably benign |
Het |
| Zfp623 |
T |
C |
15: 75,819,488 (GRCm39) |
V148A |
probably damaging |
Het |
|
| Other mutations in Cpt1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Cpt1a
|
APN |
19 |
3,416,389 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
allosouris
|
UTSW |
19 |
3,428,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Tyrannosouris
|
UTSW |
19 |
3,412,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0029:Cpt1a
|
UTSW |
19 |
3,431,674 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0029:Cpt1a
|
UTSW |
19 |
3,431,674 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0305:Cpt1a
|
UTSW |
19 |
3,428,455 (GRCm39) |
missense |
probably benign |
|
|
R0963:Cpt1a
|
UTSW |
19 |
3,431,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Cpt1a
|
UTSW |
19 |
3,415,788 (GRCm39) |
splice site |
probably benign |
|
|
R2102:Cpt1a
|
UTSW |
19 |
3,421,585 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3034:Cpt1a
|
UTSW |
19 |
3,428,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3153:Cpt1a
|
UTSW |
19 |
3,406,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5195:Cpt1a
|
UTSW |
19 |
3,433,800 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5391:Cpt1a
|
UTSW |
19 |
3,399,260 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5964:Cpt1a
|
UTSW |
19 |
3,415,760 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6031:Cpt1a
|
UTSW |
19 |
3,421,556 (GRCm39) |
splice site |
probably null |
|
|
R6031:Cpt1a
|
UTSW |
19 |
3,421,556 (GRCm39) |
splice site |
probably null |
|
|
R6246:Cpt1a
|
UTSW |
19 |
3,426,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6339:Cpt1a
|
UTSW |
19 |
3,412,152 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6427:Cpt1a
|
UTSW |
19 |
3,412,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6535:Cpt1a
|
UTSW |
19 |
3,415,788 (GRCm39) |
splice site |
probably null |
|
|
R6621:Cpt1a
|
UTSW |
19 |
3,428,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6892:Cpt1a
|
UTSW |
19 |
3,421,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7142:Cpt1a
|
UTSW |
19 |
3,425,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7385:Cpt1a
|
UTSW |
19 |
3,430,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7908:Cpt1a
|
UTSW |
19 |
3,412,202 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8098:Cpt1a
|
UTSW |
19 |
3,420,849 (GRCm39) |
missense |
probably benign |
|
|
R8444:Cpt1a
|
UTSW |
19 |
3,431,981 (GRCm39) |
missense |
probably benign |
|
|
R8854:Cpt1a
|
UTSW |
19 |
3,406,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8918:Cpt1a
|
UTSW |
19 |
3,408,258 (GRCm39) |
missense |
|
|
|
R8951:Cpt1a
|
UTSW |
19 |
3,412,211 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9217:Cpt1a
|
UTSW |
19 |
3,425,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9295:Cpt1a
|
UTSW |
19 |
3,428,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9495:Cpt1a
|
UTSW |
19 |
3,433,795 (GRCm39) |
missense |
probably benign |
|
|
R9560:Cpt1a
|
UTSW |
19 |
3,402,531 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9735:Cpt1a
|
UTSW |
19 |
3,420,825 (GRCm39) |
missense |
probably benign |
|
|
X0019:Cpt1a
|
UTSW |
19 |
3,416,348 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Cpt1a
|
UTSW |
19 |
3,420,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cpt1a
|
UTSW |
19 |
3,416,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGTTGGATTTCATTCTGAGC -3'
(R):5'- CCATAGCAGGGGTCAGATTTG -3'
Sequencing Primer
(F):5'- TGACCTGTCTGGCTAACAAG -3'
(R):5'- AGGCTGCTCACAGGTACC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation