Incidental Mutation 'R3835:Apoa5'
| ID |
275589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apoa5
|
| Ensembl Gene |
ENSMUSG00000032079 |
| Gene Name |
apolipoprotein A-V |
| Synonyms |
1300007O05Rik, RAP3, Apoav |
| MMRRC Submission |
040890-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3835 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
46179931-46183217 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 46181878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 318
(H318L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034584]
[ENSMUST00000121598]
[ENSMUST00000156440]
[ENSMUST00000213878]
[ENSMUST00000214202]
[ENSMUST00000215458]
[ENSMUST00000215187]
|
| AlphaFold |
Q8C7G5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034584
AA Change: H318L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034584
Gene: ENSMUSG00000032079
AA Change: H318L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apolipoprotein
|
52 |
264 |
5.1e-59 |
PFAM |
|
Pfam:Apolipoprotein
|
258 |
315 |
1.8e-3 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114552
|
| SMART Domains |
Protein: ENSMUSP00000110199
Gene: ENSMUSG00000032078
| Domain | Start | End | E-Value | Type |
|---|
|
Zpr1
|
12 |
150 |
5.57e-30 |
SMART |
|
Zpr1
|
184 |
343 |
4.27e-90 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121598
AA Change: H318L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113413
Gene: ENSMUSG00000032079
AA Change: H318L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Apolipoprotein
|
51 |
305 |
8.1e-66 |
PFAM |
|
low complexity region
|
312 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125239
|
| SMART Domains |
Protein: ENSMUSP00000123437
Gene: ENSMUSG00000032078
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
32 |
N/A |
INTRINSIC |
|
Blast:Zpr1
|
33 |
59 |
2e-12 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125791
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141763
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156440
|
| SMART Domains |
Protein: ENSMUSP00000117725
Gene: ENSMUSG00000032078
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
30 |
N/A |
INTRINSIC |
|
Zpr1
|
49 |
207 |
1.47e-93 |
SMART |
|
low complexity region
|
236 |
246 |
N/A |
INTRINSIC |
|
Zpr1
|
257 |
416 |
4.27e-90 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215484
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213878
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214202
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215458
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215187
|
| Meta Mutation Damage Score |
0.2873 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (43/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an apolipoprotein that plays an important role in regulating the plasma triglyceride levels, a major risk factor for coronary artery disease. It is a component of high density lipoprotein and is highly similar to a rat protein that is upregulated in response to liver injury. Mutations in this gene have been associated with hypertriglyceridemia and hyperlipoproteinemia type 5. This gene is located proximal to the apolipoprotein gene cluster on chromosome 11q23. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous mutation of this gene results in increased triglyceride and VLDL cholesterol levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,254 (GRCm39) |
I479T |
probably damaging |
Het |
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Anapc7 |
A |
G |
5: 122,581,940 (GRCm39) |
T528A |
possibly damaging |
Het |
| Ap5b1 |
A |
G |
19: 5,618,918 (GRCm39) |
T113A |
possibly damaging |
Het |
| Apaf1 |
G |
A |
10: 90,895,449 (GRCm39) |
R439C |
probably benign |
Het |
| Bltp2 |
A |
G |
11: 78,169,911 (GRCm39) |
R1545G |
probably benign |
Het |
| Btnl9 |
T |
G |
11: 49,071,512 (GRCm39) |
T104P |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,533,449 (GRCm39) |
K107R |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,007,128 (GRCm39) |
R610W |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,331,119 (GRCm39) |
S186P |
probably benign |
Het |
| Gipc2 |
C |
A |
3: 151,833,823 (GRCm39) |
V153F |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,783 (GRCm39) |
Y295C |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 74,945,044 (GRCm39) |
Q735L |
probably benign |
Het |
| Lrrc10 |
A |
G |
10: 116,881,691 (GRCm39) |
N122D |
possibly damaging |
Het |
| Lrrc37 |
C |
A |
11: 103,510,836 (GRCm39) |
L377F |
unknown |
Het |
| Meis2 |
T |
C |
2: 115,752,228 (GRCm39) |
H301R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Nalcn |
A |
T |
14: 123,530,834 (GRCm39) |
|
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,723 (GRCm39) |
|
probably benign |
Het |
| Nnt |
C |
T |
13: 119,509,031 (GRCm39) |
G403R |
probably damaging |
Het |
| Or4a79 |
T |
G |
2: 89,551,799 (GRCm39) |
I219L |
possibly damaging |
Het |
| Or4d6 |
T |
A |
19: 12,086,764 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or5b109 |
A |
T |
19: 13,212,103 (GRCm39) |
D163V |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,631 (GRCm39) |
E468G |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,158,121 (GRCm39) |
D56G |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,701,435 (GRCm39) |
S42P |
probably damaging |
Het |
| Rab9b |
C |
T |
X: 135,762,259 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,384,710 (GRCm39) |
E606G |
probably damaging |
Het |
| Setx |
C |
T |
2: 29,035,072 (GRCm39) |
S519L |
possibly damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Snrk |
T |
C |
9: 121,966,069 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,657,109 (GRCm39) |
D422G |
probably damaging |
Het |
| Stag1 |
C |
T |
9: 100,620,035 (GRCm39) |
T46I |
probably damaging |
Het |
| Tagln |
T |
C |
9: 45,843,008 (GRCm39) |
I18V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,625,292 (GRCm39) |
T1553A |
probably benign |
Het |
| Tbx18 |
C |
A |
9: 87,611,689 (GRCm39) |
A114S |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,659,322 (GRCm39) |
D259G |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,212,214 (GRCm39) |
D76G |
probably damaging |
Het |
| Vmn2r24 |
G |
T |
6: 123,764,412 (GRCm39) |
D430Y |
probably benign |
Het |
| Xlr3a |
T |
C |
X: 72,138,644 (GRCm39) |
E5G |
probably damaging |
Het |
|
| Other mutations in Apoa5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02084:Apoa5
|
APN |
9 |
46,181,950 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02089:Apoa5
|
APN |
9 |
46,180,437 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0046:Apoa5
|
UTSW |
9 |
46,181,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1722:Apoa5
|
UTSW |
9 |
46,181,847 (GRCm39) |
nonsense |
probably null |
|
|
R2007:Apoa5
|
UTSW |
9 |
46,181,665 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2356:Apoa5
|
UTSW |
9 |
46,181,341 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3739:Apoa5
|
UTSW |
9 |
46,180,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4364:Apoa5
|
UTSW |
9 |
46,181,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:Apoa5
|
UTSW |
9 |
46,181,170 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4760:Apoa5
|
UTSW |
9 |
46,181,593 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5160:Apoa5
|
UTSW |
9 |
46,181,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5523:Apoa5
|
UTSW |
9 |
46,181,887 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R5915:Apoa5
|
UTSW |
9 |
46,180,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6106:Apoa5
|
UTSW |
9 |
46,181,931 (GRCm39) |
nonsense |
probably null |
|
|
R6849:Apoa5
|
UTSW |
9 |
46,181,298 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7170:Apoa5
|
UTSW |
9 |
46,181,437 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9268:Apoa5
|
UTSW |
9 |
46,181,719 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9403:Apoa5
|
UTSW |
9 |
46,181,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9495:Apoa5
|
UTSW |
9 |
46,181,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9499:Apoa5
|
UTSW |
9 |
46,181,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Apoa5
|
UTSW |
9 |
46,180,417 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAGCTCAGTGCCTTCATC -3'
(R):5'- ATAGACCATGCTAGCGGCTCAG -3'
Sequencing Primer
(F):5'- ATCCGCGTCAGCACAGATG -3'
(R):5'- CTCAGGGTCCAGACAATGAGCTG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation