Incidental Mutation 'R4279:Dgat2'
| ID |
371104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dgat2
|
| Ensembl Gene |
ENSMUSG00000030747 |
| Gene Name |
diacylglycerol O-acyltransferase 2 |
| Synonyms |
0610010B06Rik |
| MMRRC Submission |
041079-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4279 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
98802870-98831920 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 98813912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 120
(G120V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033001
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033001]
[ENSMUST00000207491]
[ENSMUST00000207611]
[ENSMUST00000208591]
|
| AlphaFold |
Q9DCV3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000033001
AA Change: G120V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000033001
Gene: ENSMUSG00000030747
AA Change: G120V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
24 |
N/A |
INTRINSIC |
|
Pfam:DAGAT
|
92 |
388 |
5.3e-151 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207491
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207611
AA Change: G90V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207893
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207894
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208591
|
| Meta Mutation Damage Score |
0.9736 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two enzymes which catalyzes the final reaction in the synthesis of triglycerides in which diacylglycerol is covalently bound to long chain fatty acyl-CoAs. The encoded protein catalyzes this reaction at low concentrations of magnesium chloride while the other enzyme has high activity at high concentrations of magnesium chloride. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Homozygous mutant mice die shortly after birth due to inadequate substrates for energy and impaired skin barrier function leading to dehydration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
A |
15: 96,269,637 (GRCm39) |
L1250Q |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,815,355 (GRCm39) |
N364Y |
possibly damaging |
Het |
| Ccl25 |
T |
A |
8: 4,399,829 (GRCm39) |
L56Q |
probably damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,905,966 (GRCm39) |
A871E |
probably damaging |
Het |
| Cyp2b23 |
C |
T |
7: 26,365,452 (GRCm39) |
S461N |
possibly damaging |
Het |
| Dsp |
A |
T |
13: 38,369,207 (GRCm39) |
I768F |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,333,765 (GRCm39) |
E356G |
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,042,734 (GRCm39) |
V889D |
probably benign |
Het |
| Fxyd5 |
C |
A |
7: 30,734,811 (GRCm39) |
D139Y |
probably null |
Het |
| Gcnt2 |
T |
C |
13: 41,041,666 (GRCm39) |
V275A |
probably benign |
Het |
| Gimap4 |
A |
G |
6: 48,667,511 (GRCm39) |
I89V |
probably benign |
Het |
| Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
| Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Kif13b |
G |
T |
14: 65,016,805 (GRCm39) |
A1324S |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,563,121 (GRCm39) |
S629P |
unknown |
Het |
| Lpar1 |
A |
G |
4: 58,487,115 (GRCm39) |
V52A |
possibly damaging |
Het |
| Lrp5 |
A |
G |
19: 3,641,778 (GRCm39) |
S1395P |
possibly damaging |
Het |
| Mogs |
T |
C |
6: 83,093,048 (GRCm39) |
L132P |
probably damaging |
Het |
| Ncam1 |
C |
A |
9: 49,418,259 (GRCm39) |
|
probably benign |
Het |
| Ndufs8 |
A |
T |
19: 3,961,014 (GRCm39) |
F88I |
probably damaging |
Het |
| Nos2 |
T |
A |
11: 78,820,602 (GRCm39) |
L69Q |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,292 (GRCm39) |
Q179L |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,846,138 (GRCm39) |
I192N |
probably benign |
Het |
| Psmd6 |
T |
C |
14: 14,112,297 (GRCm38) |
N388S |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,805,028 (GRCm39) |
T1046A |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,583,428 (GRCm39) |
E1729G |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,692,953 (GRCm39) |
D191G |
possibly damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,139,400 (GRCm39) |
F206S |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,273,886 (GRCm39) |
*968W |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Unc13a |
T |
C |
8: 72,119,311 (GRCm39) |
K9R |
probably damaging |
Het |
| Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,786 (GRCm39) |
M199L |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
| Zfp365 |
A |
T |
10: 67,733,431 (GRCm39) |
F254I |
probably benign |
Het |
|
| Other mutations in Dgat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
PIT4377001:Dgat2
|
UTSW |
7 |
98,806,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0532:Dgat2
|
UTSW |
7 |
98,818,988 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1726:Dgat2
|
UTSW |
7 |
98,831,623 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2386:Dgat2
|
UTSW |
7 |
98,806,300 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R3429:Dgat2
|
UTSW |
7 |
98,806,300 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3430:Dgat2
|
UTSW |
7 |
98,806,300 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3881:Dgat2
|
UTSW |
7 |
98,818,950 (GRCm39) |
nonsense |
probably null |
|
|
R4280:Dgat2
|
UTSW |
7 |
98,808,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4719:Dgat2
|
UTSW |
7 |
98,807,504 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6019:Dgat2
|
UTSW |
7 |
98,803,838 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6152:Dgat2
|
UTSW |
7 |
98,813,885 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6868:Dgat2
|
UTSW |
7 |
98,807,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7143:Dgat2
|
UTSW |
7 |
98,806,331 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7362:Dgat2
|
UTSW |
7 |
98,803,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8147:Dgat2
|
UTSW |
7 |
98,806,187 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8438:Dgat2
|
UTSW |
7 |
98,806,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Dgat2
|
UTSW |
7 |
98,818,710 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9570:Dgat2
|
UTSW |
7 |
98,818,926 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R9613:Dgat2
|
UTSW |
7 |
98,831,692 (GRCm39) |
missense |
probably benign |
0.28 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCAGTGGAATCTGGACAGATC -3'
(R):5'- TTTGGAGCTCCCTCAGTGTG -3'
Sequencing Primer
(F):5'- AATCTGGACAGATCCTCATGGTG -3'
(R):5'- AGTGTGTTCACAGAGCTCAC -3'
|
| Posted On |
2016-02-17 |
Incidental Mutation