Incidental Mutation 'R4797:Apobr'
| ID |
369137 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apobr
|
| Ensembl Gene |
ENSMUSG00000042759 |
| Gene Name |
apolipoprotein B receptor |
| Synonyms |
Apob48r, Apob-48r |
| MMRRC Submission |
042421-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R4797 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126184114-126188284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 126186756 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 756
(E756K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000039522]
[ENSMUST00000058429]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000137646]
[ENSMUST00000131860]
[ENSMUST00000144173]
[ENSMUST00000138558]
[ENSMUST00000147086]
[ENSMUST00000150917]
[ENSMUST00000128970]
[ENSMUST00000150311]
[ENSMUST00000150587]
|
| AlphaFold |
Q8VBT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032962
|
| SMART Domains |
Protein: ENSMUSP00000032962
Gene: ENSMUSG00000030720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039522
AA Change: E756K
PolyPhen 2
Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: E756K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
396 |
N/A |
INTRINSIC |
|
low complexity region
|
465 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
588 |
608 |
N/A |
INTRINSIC |
|
low complexity region
|
837 |
862 |
N/A |
INTRINSIC |
|
low complexity region
|
869 |
881 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000058429
|
| SMART Domains |
Protein: ENSMUSP00000054637
Gene: ENSMUSG00000044701
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
160 |
177 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
228 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084589
|
| SMART Domains |
Protein: ENSMUSP00000081636
Gene: ENSMUSG00000030720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
438 |
3.5e-215 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098036
|
| SMART Domains |
Protein: ENSMUSP00000095644
Gene: ENSMUSG00000030720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
414 |
4.3e-191 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000116269
|
| SMART Domains |
Protein: ENSMUSP00000111973
Gene: ENSMUSG00000030720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
39 |
437 |
1.6e-140 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125508
|
| SMART Domains |
Protein: ENSMUSP00000117561
Gene: ENSMUSG00000030720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
76 |
1.2e-17 |
PFAM |
|
Pfam:CLN3
|
73 |
151 |
2.8e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137646
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147086
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150917
|
| SMART Domains |
Protein: ENSMUSP00000138688
Gene: ENSMUSG00000030720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
77 |
1.6e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128970
|
| SMART Domains |
Protein: ENSMUSP00000114901
Gene: ENSMUSG00000030720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
196 |
1.2e-87 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150311
|
| SMART Domains |
Protein: ENSMUSP00000116160
Gene: ENSMUSG00000030720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
69 |
1.5e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150587
|
| SMART Domains |
Protein: ENSMUSP00000118054
Gene: ENSMUSG00000030720
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CLN3
|
37 |
70 |
4.1e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153790
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
96% (69/72) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride (TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,008,945 (GRCm39) |
T1195A |
probably benign |
Het |
| Arpc3 |
A |
G |
5: 122,542,215 (GRCm39) |
E77G |
possibly damaging |
Het |
| Atp2b2 |
A |
T |
6: 113,766,847 (GRCm39) |
M464K |
possibly damaging |
Het |
| Atxn7l2 |
A |
G |
3: 108,111,866 (GRCm39) |
S379P |
probably damaging |
Het |
| Ccdc91 |
A |
T |
6: 147,493,641 (GRCm39) |
E344D |
unknown |
Het |
| Cdc42bpg |
G |
A |
19: 6,370,477 (GRCm39) |
R1190Q |
probably damaging |
Het |
| Cdh17 |
C |
A |
4: 11,810,390 (GRCm39) |
Q694K |
probably benign |
Het |
| Chordc1 |
G |
T |
9: 18,203,672 (GRCm39) |
|
probably benign |
Het |
| Copg1 |
A |
G |
6: 87,880,450 (GRCm39) |
|
probably benign |
Het |
| Dcbld1 |
T |
C |
10: 52,160,223 (GRCm39) |
V37A |
probably damaging |
Het |
| Ddb2 |
A |
G |
2: 91,067,163 (GRCm39) |
|
probably benign |
Het |
| Dok5 |
A |
T |
2: 170,672,042 (GRCm39) |
R115* |
probably null |
Het |
| Drc7 |
T |
C |
8: 95,800,925 (GRCm39) |
I649T |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,729,437 (GRCm39) |
T713A |
probably damaging |
Het |
| Epg5 |
G |
A |
18: 78,073,614 (GRCm39) |
D2494N |
probably benign |
Het |
| Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
| Glb1l3 |
T |
C |
9: 26,739,742 (GRCm39) |
D356G |
probably damaging |
Het |
| Gm1818 |
A |
T |
12: 48,602,393 (GRCm39) |
|
noncoding transcript |
Het |
| Gsta5 |
A |
T |
9: 78,211,679 (GRCm39) |
Y147F |
probably benign |
Het |
| Hcrtr2 |
C |
A |
9: 76,161,816 (GRCm39) |
M191I |
probably damaging |
Het |
| Heatr1 |
G |
A |
13: 12,426,929 (GRCm39) |
E685K |
probably benign |
Het |
| Hsd3b2 |
A |
T |
3: 98,618,979 (GRCm39) |
L322Q |
probably damaging |
Het |
| Hsd3b9 |
T |
A |
3: 98,363,747 (GRCm39) |
R62* |
probably null |
Het |
| Htra4 |
T |
C |
8: 25,523,675 (GRCm39) |
T297A |
probably damaging |
Het |
| Il22 |
C |
A |
10: 118,041,058 (GRCm39) |
R55S |
probably damaging |
Het |
| Ints1 |
G |
A |
5: 139,757,631 (GRCm39) |
T324M |
possibly damaging |
Het |
| Ints15 |
A |
G |
5: 143,297,504 (GRCm39) |
F181S |
probably benign |
Het |
| Ints7 |
T |
C |
1: 191,329,045 (GRCm39) |
V268A |
probably damaging |
Het |
| Kctd20 |
G |
A |
17: 29,185,766 (GRCm39) |
V370I |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,023,770 (GRCm39) |
M55K |
probably benign |
Het |
| Larp1 |
C |
A |
11: 57,938,806 (GRCm39) |
S494* |
probably null |
Het |
| Ldb3 |
A |
T |
14: 34,277,470 (GRCm39) |
H262Q |
possibly damaging |
Het |
| Lepr |
C |
A |
4: 101,637,244 (GRCm39) |
T711K |
possibly damaging |
Het |
| Mon2 |
T |
C |
10: 122,852,422 (GRCm39) |
I984V |
probably benign |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Oasl1 |
A |
G |
5: 115,066,217 (GRCm39) |
M112V |
probably benign |
Het |
| Or2d2b |
A |
T |
7: 106,705,234 (GRCm39) |
M278K |
probably benign |
Het |
| Or6c214 |
A |
T |
10: 129,590,390 (GRCm39) |
S310T |
probably benign |
Het |
| Or7c19 |
G |
T |
8: 85,957,567 (GRCm39) |
A148S |
probably benign |
Het |
| P2ry1 |
T |
A |
3: 60,910,881 (GRCm39) |
S7T |
probably benign |
Het |
| Pidd1 |
G |
T |
7: 141,022,899 (GRCm39) |
R98S |
possibly damaging |
Het |
| Pkd1l1 |
A |
C |
11: 8,911,340 (GRCm39) |
F312L |
unknown |
Het |
| Pla2r1 |
A |
T |
2: 60,334,524 (GRCm39) |
M416K |
possibly damaging |
Het |
| Pold1 |
T |
C |
7: 44,191,325 (GRCm39) |
E194G |
possibly damaging |
Het |
| Poldip2 |
T |
A |
11: 78,404,813 (GRCm39) |
Y77N |
probably damaging |
Het |
| Ppp2r3d |
G |
T |
9: 101,089,179 (GRCm39) |
N381K |
probably benign |
Het |
| Prrc2a |
G |
A |
17: 35,369,018 (GRCm39) |
P2006L |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsu1 |
A |
G |
2: 13,221,537 (GRCm39) |
|
probably benign |
Het |
| Selenoi |
T |
A |
5: 30,457,740 (GRCm39) |
W90R |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 99,891,795 (GRCm39) |
D216E |
possibly damaging |
Het |
| Spata31 |
C |
A |
13: 65,070,556 (GRCm39) |
Y901* |
probably null |
Het |
| Ssrp1 |
T |
A |
2: 84,876,066 (GRCm39) |
Y607* |
probably null |
Het |
| Stk10 |
T |
A |
11: 32,548,471 (GRCm39) |
N346K |
probably benign |
Het |
| Surf1 |
G |
T |
2: 26,806,358 (GRCm39) |
|
probably benign |
Het |
| Synj2 |
A |
T |
17: 6,084,163 (GRCm39) |
E283V |
probably damaging |
Het |
| Tg |
G |
A |
15: 66,629,855 (GRCm39) |
|
probably null |
Het |
| Traf1 |
A |
T |
2: 34,846,289 (GRCm39) |
D42E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,571,209 (GRCm39) |
I26561M |
probably damaging |
Het |
| Ubp1 |
T |
C |
9: 113,785,070 (GRCm39) |
Y128H |
probably damaging |
Het |
| Vmn1r216 |
T |
A |
13: 23,283,506 (GRCm39) |
I63K |
probably benign |
Het |
| Vmn1r49 |
T |
A |
6: 90,049,612 (GRCm39) |
H130L |
probably benign |
Het |
| Vmn2r90 |
C |
T |
17: 17,932,567 (GRCm39) |
T158I |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,780,725 (GRCm39) |
S885G |
probably damaging |
Het |
|
| Other mutations in Apobr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01812:Apobr
|
APN |
7 |
126,187,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02373:Apobr
|
APN |
7 |
126,184,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02383:Apobr
|
APN |
7 |
126,185,779 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0626:Apobr
|
UTSW |
7 |
126,185,827 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1142:Apobr
|
UTSW |
7 |
126,186,654 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1672:Apobr
|
UTSW |
7 |
126,186,723 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1711:Apobr
|
UTSW |
7 |
126,184,151 (GRCm39) |
start gained |
probably null |
|
|
R1865:Apobr
|
UTSW |
7 |
126,185,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1971:Apobr
|
UTSW |
7 |
126,185,397 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1985:Apobr
|
UTSW |
7 |
126,186,903 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R2130:Apobr
|
UTSW |
7 |
126,186,378 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2143:Apobr
|
UTSW |
7 |
126,186,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4497:Apobr
|
UTSW |
7 |
126,186,694 (GRCm39) |
splice site |
probably null |
|
|
R4693:Apobr
|
UTSW |
7 |
126,186,019 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4814:Apobr
|
UTSW |
7 |
126,185,859 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5000:Apobr
|
UTSW |
7 |
126,185,729 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5153:Apobr
|
UTSW |
7 |
126,186,904 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5176:Apobr
|
UTSW |
7 |
126,184,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5285:Apobr
|
UTSW |
7 |
126,184,175 (GRCm39) |
unclassified |
probably benign |
|
|
R5296:Apobr
|
UTSW |
7 |
126,187,196 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5579:Apobr
|
UTSW |
7 |
126,186,847 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9025:Apobr
|
UTSW |
7 |
126,185,629 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9063:Apobr
|
UTSW |
7 |
126,185,920 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9245:Apobr
|
UTSW |
7 |
126,186,507 (GRCm39) |
nonsense |
probably null |
|
|
R9405:Apobr
|
UTSW |
7 |
126,184,704 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9444:Apobr
|
UTSW |
7 |
126,185,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9688:Apobr
|
UTSW |
7 |
126,186,663 (GRCm39) |
missense |
probably benign |
0.08 |
|
Z1088:Apobr
|
UTSW |
7 |
126,184,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Apobr
|
UTSW |
7 |
126,186,436 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCAGAGAAGGTGTCTGG -3'
(R):5'- CCTCATTCCAGTTGCTGTGAAC -3'
Sequencing Primer
(F):5'- AAGGTGTCTGGCTATGATATCCAAG -3'
(R):5'- AGTTGCTGTGAACATCCCCTGG -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation