Incidental Mutation 'R2178:Cpt1b'
| ID |
237020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cpt1b
|
| Ensembl Gene |
ENSMUSG00000078937 |
| Gene Name |
carnitine palmitoyltransferase 1b, muscle |
| Synonyms |
Cpt1, M-CPTI, M-CPT I |
| MMRRC Submission |
040180-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
89300608-89310065 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89303246 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 603
(E603G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104936
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052315]
[ENSMUST00000109313]
|
| AlphaFold |
Q924X2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052315
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109313
AA Change: E603G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000104936
Gene: ENSMUSG00000078937
AA Change: E603G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPT_N
|
1 |
47 |
2.5e-29 |
PFAM |
|
Pfam:Carn_acyltransf
|
173 |
762 |
1.3e-183 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165419
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168879
|
| SMART Domains |
Protein: ENSMUSP00000128188
Gene: ENSMUSG00000078937
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Carn_acyltransf
|
3 |
148 |
3.5e-34 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene, a member of the carnitine/choline acetyltransferase family, is the rate-controlling enzyme of the long-chain fatty acid beta-oxidation pathway in muscle mitochondria. This enzyme is required for the net transport of long-chain fatty acyl-CoAs from the cytoplasm into the mitochondria. Multiple transcript variants encoding different isoforms have been found for this gene, and read-through transcripts are expressed from the upstream locus that include exons from this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Homozygous null mice die in utero prior to E9.5. Heterozygous mutant mice exhibit susceptibility to fatal hypothermia following cold exposure, with females more severely affected. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
A |
T |
15: 98,492,236 (GRCm39) |
N1007K |
probably damaging |
Het |
| Apon |
C |
A |
10: 128,090,634 (GRCm39) |
A104E |
probably benign |
Het |
| Cdh15 |
T |
A |
8: 123,591,715 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,779,297 (GRCm39) |
V769A |
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,421,954 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
C |
3: 144,711,863 (GRCm39) |
N711D |
probably damaging |
Het |
| Col1a2 |
T |
C |
6: 4,531,143 (GRCm39) |
F731L |
unknown |
Het |
| Cspp1 |
T |
G |
1: 10,174,471 (GRCm39) |
D641E |
possibly damaging |
Het |
| Ddr2 |
C |
T |
1: 169,822,251 (GRCm39) |
R399Q |
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,126,816 (GRCm39) |
|
probably null |
Het |
| Greb1 |
A |
G |
12: 16,746,388 (GRCm39) |
V1294A |
probably damaging |
Het |
| Hmgb4 |
A |
G |
4: 128,154,275 (GRCm39) |
S98P |
probably damaging |
Het |
| Kif12 |
G |
A |
4: 63,085,196 (GRCm39) |
P515L |
probably benign |
Het |
| Kmt5b |
A |
C |
19: 3,865,372 (GRCm39) |
E789A |
possibly damaging |
Het |
| Lama1 |
G |
T |
17: 68,076,510 (GRCm39) |
V1095F |
probably benign |
Het |
| Leprot |
T |
C |
4: 101,513,308 (GRCm39) |
V32A |
probably benign |
Het |
| Mcoln1 |
A |
G |
8: 3,558,766 (GRCm39) |
T255A |
probably damaging |
Het |
| Mertk |
G |
A |
2: 128,634,984 (GRCm39) |
E765K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,853 (GRCm39) |
T3600A |
possibly damaging |
Het |
| Ncapd3 |
A |
T |
9: 26,999,845 (GRCm39) |
E1395V |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 58,956,616 (GRCm39) |
F25S |
probably benign |
Het |
| Or2a5 |
A |
G |
6: 42,873,732 (GRCm39) |
M116V |
probably benign |
Het |
| Or6z1 |
G |
T |
7: 6,504,487 (GRCm39) |
A246D |
probably damaging |
Het |
| Or7c70 |
T |
A |
10: 78,683,612 (GRCm39) |
I46F |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,269,924 (GRCm39) |
H1613N |
probably benign |
Het |
| Polq |
T |
C |
16: 36,883,191 (GRCm39) |
V1785A |
probably damaging |
Het |
| Pramel23 |
A |
T |
4: 143,424,612 (GRCm39) |
I277K |
possibly damaging |
Het |
| Prkar2a |
T |
C |
9: 108,617,737 (GRCm39) |
|
probably null |
Het |
| Qrich2 |
T |
C |
11: 116,334,603 (GRCm39) |
D2194G |
probably damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,333 (GRCm39) |
N155S |
probably benign |
Het |
| S1pr5 |
T |
C |
9: 21,155,760 (GRCm39) |
N222S |
probably benign |
Het |
| Scnn1a |
C |
T |
6: 125,307,965 (GRCm39) |
R170C |
probably damaging |
Het |
| Slc25a2 |
T |
C |
18: 37,771,311 (GRCm39) |
T73A |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,404,234 (GRCm39) |
N347S |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,315,433 (GRCm39) |
V229A |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,115,941 (GRCm39) |
E313G |
probably benign |
Het |
| Tnfsf11 |
A |
G |
14: 78,521,682 (GRCm39) |
S176P |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps39 |
C |
A |
2: 120,154,160 (GRCm39) |
E612* |
probably null |
Het |
| Vwf |
T |
A |
6: 125,619,095 (GRCm39) |
Y1258N |
possibly damaging |
Het |
|
| Other mutations in Cpt1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Cpt1b
|
APN |
15 |
89,305,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL00497:Cpt1b
|
APN |
15 |
89,306,496 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01142:Cpt1b
|
APN |
15 |
89,303,196 (GRCm39) |
missense |
probably benign |
|
|
IGL02329:Cpt1b
|
APN |
15 |
89,307,942 (GRCm39) |
missense |
probably benign |
|
|
IGL02740:Cpt1b
|
APN |
15 |
89,308,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03196:Cpt1b
|
APN |
15 |
89,308,598 (GRCm39) |
missense |
probably benign |
|
|
macellaio
|
UTSW |
15 |
89,307,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
oleagenous
|
UTSW |
15 |
89,309,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02796:Cpt1b
|
UTSW |
15 |
89,309,005 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4519001:Cpt1b
|
UTSW |
15 |
89,303,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0276:Cpt1b
|
UTSW |
15 |
89,304,162 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0302:Cpt1b
|
UTSW |
15 |
89,302,073 (GRCm39) |
missense |
probably benign |
|
|
R0454:Cpt1b
|
UTSW |
15 |
89,308,596 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1199:Cpt1b
|
UTSW |
15 |
89,303,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1633:Cpt1b
|
UTSW |
15 |
89,303,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1674:Cpt1b
|
UTSW |
15 |
89,306,535 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2087:Cpt1b
|
UTSW |
15 |
89,306,411 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2414:Cpt1b
|
UTSW |
15 |
89,304,283 (GRCm39) |
splice site |
probably benign |
|
|
R2507:Cpt1b
|
UTSW |
15 |
89,303,301 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2883:Cpt1b
|
UTSW |
15 |
89,302,072 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3432:Cpt1b
|
UTSW |
15 |
89,307,944 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3783:Cpt1b
|
UTSW |
15 |
89,309,392 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Cpt1b
|
UTSW |
15 |
89,308,247 (GRCm39) |
splice site |
probably null |
|
|
R4737:Cpt1b
|
UTSW |
15 |
89,305,609 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5122:Cpt1b
|
UTSW |
15 |
89,308,226 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5320:Cpt1b
|
UTSW |
15 |
89,303,477 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5365:Cpt1b
|
UTSW |
15 |
89,304,310 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5699:Cpt1b
|
UTSW |
15 |
89,308,476 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5710:Cpt1b
|
UTSW |
15 |
89,309,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5873:Cpt1b
|
UTSW |
15 |
89,304,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5941:Cpt1b
|
UTSW |
15 |
89,309,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Cpt1b
|
UTSW |
15 |
89,308,620 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6197:Cpt1b
|
UTSW |
15 |
89,309,037 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6323:Cpt1b
|
UTSW |
15 |
89,303,266 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6486:Cpt1b
|
UTSW |
15 |
89,305,027 (GRCm39) |
missense |
probably benign |
|
|
R7571:Cpt1b
|
UTSW |
15 |
89,305,546 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7648:Cpt1b
|
UTSW |
15 |
89,305,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7743:Cpt1b
|
UTSW |
15 |
89,305,607 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7893:Cpt1b
|
UTSW |
15 |
89,307,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8021:Cpt1b
|
UTSW |
15 |
89,305,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8207:Cpt1b
|
UTSW |
15 |
89,303,018 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8394:Cpt1b
|
UTSW |
15 |
89,306,490 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8552:Cpt1b
|
UTSW |
15 |
89,306,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Cpt1b
|
UTSW |
15 |
89,308,628 (GRCm39) |
missense |
probably benign |
|
|
R9564:Cpt1b
|
UTSW |
15 |
89,303,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9643:Cpt1b
|
UTSW |
15 |
89,303,229 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCGGAAGAGATCTTGGAGG -3'
(R):5'- TCAAGAAGTGTAGGACCAGCCC -3'
Sequencing Primer
(F):5'- CCGGAAGAGATCTTGGAGGTCTTG -3'
(R):5'- TGTGCAGATTGCCCTACAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation