Incidental Mutation 'R5285:Apobr'
| ID |
402992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apobr
|
| Ensembl Gene |
ENSMUSG00000042759 |
| Gene Name |
apolipoprotein B receptor |
| Synonyms |
Apob48r, Apob-48r |
| MMRRC Submission |
042869-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126184114-126188284 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 126184175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138688
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000039522]
[ENSMUST00000058429]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000131860]
[ENSMUST00000137646]
[ENSMUST00000138558]
[ENSMUST00000144173]
[ENSMUST00000150311]
[ENSMUST00000128970]
[ENSMUST00000150917]
[ENSMUST00000147086]
[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
|
| SMART Domains |
Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
| 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: ENSMUST00000131860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137646
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128225
|
| 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: 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: 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: ENSMUST00000147086
|
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
98% (65/66) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,435,097 (GRCm39) |
T12A |
probably benign |
Het |
| Acbd6 |
T |
A |
1: 155,434,471 (GRCm39) |
S30T |
probably benign |
Het |
| Adcy8 |
G |
T |
15: 64,639,706 (GRCm39) |
H685N |
possibly damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,553,752 (GRCm39) |
K539* |
probably null |
Het |
| Ap1m2 |
G |
T |
9: 21,216,933 (GRCm39) |
Y134* |
probably null |
Het |
| Atl1 |
A |
G |
12: 70,001,273 (GRCm39) |
K345R |
probably benign |
Het |
| Avil |
T |
C |
10: 126,854,328 (GRCm39) |
L765P |
probably damaging |
Het |
| Caps2 |
T |
A |
10: 112,044,216 (GRCm39) |
Y472N |
probably benign |
Het |
| Catspere2 |
A |
G |
1: 177,931,454 (GRCm39) |
K458E |
unknown |
Het |
| Cd177 |
A |
T |
7: 24,445,674 (GRCm39) |
S590T |
probably benign |
Het |
| Cep295 |
T |
C |
9: 15,233,887 (GRCm39) |
D2223G |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,028,636 (GRCm39) |
T493A |
probably benign |
Het |
| Chek1 |
T |
C |
9: 36,625,748 (GRCm39) |
D299G |
probably benign |
Het |
| Cpox |
G |
A |
16: 58,495,649 (GRCm39) |
G322D |
probably damaging |
Het |
| Crhr1 |
A |
T |
11: 104,061,323 (GRCm39) |
I243F |
possibly damaging |
Het |
| Cyp3a11 |
A |
G |
5: 145,791,893 (GRCm39) |
V500A |
probably benign |
Het |
| Dcdc5 |
A |
T |
2: 106,198,500 (GRCm39) |
|
noncoding transcript |
Het |
| Ergic3 |
A |
G |
2: 155,859,957 (GRCm39) |
|
probably benign |
Het |
| Fabp3-ps1 |
T |
G |
10: 86,568,066 (GRCm39) |
|
probably benign |
Het |
| Gm6445 |
C |
A |
19: 9,585,032 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy2d |
C |
A |
7: 98,107,474 (GRCm39) |
|
probably null |
Het |
| Ighv1-19-1 |
C |
A |
12: 114,667,872 (GRCm39) |
|
probably benign |
Het |
| Igkv2-116 |
G |
T |
6: 68,129,463 (GRCm39) |
R75L |
probably benign |
Het |
| Inhbc |
C |
A |
10: 127,193,269 (GRCm39) |
R249L |
probably damaging |
Het |
| Lrrn2 |
T |
A |
1: 132,866,983 (GRCm39) |
S683T |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,809,011 (GRCm39) |
V227A |
probably benign |
Het |
| Mroh5 |
TGGAG |
TG |
15: 73,654,923 (GRCm39) |
|
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,579,350 (GRCm39) |
N587S |
probably benign |
Het |
| Mug1 |
G |
A |
6: 121,818,066 (GRCm39) |
E126K |
probably benign |
Het |
| Nav2 |
T |
C |
7: 49,197,982 (GRCm39) |
S1204P |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,283,475 (GRCm39) |
I413T |
probably damaging |
Het |
| Nipa2 |
A |
T |
7: 55,582,760 (GRCm39) |
Y328* |
probably null |
Het |
| Or1e25 |
T |
A |
11: 73,493,767 (GRCm39) |
Y120* |
probably null |
Het |
| Or51a24 |
A |
G |
7: 103,733,340 (GRCm39) |
*316R |
probably null |
Het |
| Or52s1 |
C |
T |
7: 102,862,005 (GRCm39) |
R302* |
probably null |
Het |
| Or5k15 |
A |
T |
16: 58,710,471 (GRCm39) |
Y37* |
probably null |
Het |
| Or5k3 |
T |
C |
16: 58,969,633 (GRCm39) |
L140P |
probably damaging |
Het |
| Pla2g4e |
T |
C |
2: 120,019,985 (GRCm39) |
D155G |
probably damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,937,527 (GRCm39) |
T1176I |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,114,973 (GRCm39) |
|
probably benign |
Het |
| Prl8a2 |
G |
A |
13: 27,534,116 (GRCm39) |
|
probably null |
Het |
| Prmt7 |
G |
A |
8: 106,974,991 (GRCm39) |
R529Q |
probably benign |
Het |
| Psg17 |
T |
A |
7: 18,554,126 (GRCm39) |
L41F |
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,663,726 (GRCm39) |
R73G |
probably benign |
Het |
| Rhpn2 |
G |
T |
7: 35,080,990 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sarm1 |
A |
G |
11: 78,388,265 (GRCm39) |
F7S |
probably benign |
Het |
| Sgip1 |
T |
A |
4: 102,778,674 (GRCm39) |
|
probably benign |
Het |
| Sh3gl2 |
A |
G |
4: 85,294,686 (GRCm39) |
K99R |
probably benign |
Het |
| Sorbs1 |
G |
A |
19: 40,310,334 (GRCm39) |
T1018I |
probably damaging |
Het |
| Spns2 |
G |
A |
11: 72,380,305 (GRCm39) |
A106V |
possibly damaging |
Het |
| Stab1 |
A |
G |
14: 30,865,433 (GRCm39) |
|
probably benign |
Het |
| Steap3 |
T |
C |
1: 120,169,610 (GRCm39) |
D191G |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,674,019 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
A |
T |
2: 178,034,191 (GRCm39) |
|
probably null |
Het |
| Tm6sf1 |
A |
G |
7: 81,509,200 (GRCm39) |
S2G |
possibly damaging |
Het |
| Usp24 |
T |
A |
4: 106,264,230 (GRCm39) |
D1720E |
probably benign |
Het |
| Vmn1r200 |
G |
A |
13: 22,579,457 (GRCm39) |
E78K |
possibly damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,843,703 (GRCm39) |
L47P |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,365,442 (GRCm39) |
N544S |
probably damaging |
Het |
| Vwa1 |
C |
T |
4: 155,855,352 (GRCm39) |
A254T |
probably benign |
Het |
| Zfp7 |
G |
A |
15: 76,775,422 (GRCm39) |
R488Q |
probably damaging |
Het |
| Zfp940 |
A |
T |
7: 29,545,025 (GRCm39) |
L294H |
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 |
|
R4797:Apobr
|
UTSW |
7 |
126,186,756 (GRCm39) |
missense |
probably benign |
0.30 |
|
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 |
|
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'- GCCCTTTAGTTCCAGATGTGC -3'
(R):5'- GTCTGGCTGACTGTAGGAAAG -3'
Sequencing Primer
(F):5'- TTAGTTCCAGATGTGCACCCGAG -3'
(R):5'- CTGACTGTAGGAAAGGGAGCTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation