Incidental Mutation 'R4693:Apobr'
| ID |
355035 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apobr
|
| Ensembl Gene |
ENSMUSG00000042759 |
| Gene Name |
apolipoprotein B receptor |
| Synonyms |
Apob48r, Apob-48r |
| MMRRC Submission |
041944-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4693 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126184114-126188284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126186019 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 510
(N510S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000039522]
[ENSMUST00000058429]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000138558]
[ENSMUST00000144173]
[ENSMUST00000131860]
[ENSMUST00000137646]
[ENSMUST00000147086]
[ENSMUST00000150311]
[ENSMUST00000150587]
[ENSMUST00000150917]
[ENSMUST00000128970]
|
| 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 damaging
Transcript: ENSMUST00000039522
AA Change: N510S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: N510S
| 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 |
noncoding transcript
Transcript: ENSMUST00000128049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134246
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131860
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137646
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147086
|
| 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000153790
|
| Meta Mutation Damage Score |
0.0780 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
100% (79/79) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
T |
C |
17: 85,004,125 (GRCm39) |
Y478H |
probably damaging |
Het |
| Adar |
A |
T |
3: 89,643,247 (GRCm39) |
H128L |
probably damaging |
Het |
| Angptl6 |
G |
T |
9: 20,786,598 (GRCm39) |
D349E |
probably damaging |
Het |
| Anxa9 |
T |
C |
3: 95,204,667 (GRCm39) |
T286A |
probably benign |
Het |
| Atoh7 |
G |
T |
10: 62,936,275 (GRCm39) |
R114L |
probably benign |
Het |
| Bank1 |
C |
G |
3: 135,953,437 (GRCm39) |
R106P |
probably damaging |
Het |
| Best1 |
C |
T |
19: 9,974,499 (GRCm39) |
G15D |
probably damaging |
Het |
| Best2 |
A |
T |
8: 85,737,832 (GRCm39) |
F188I |
probably damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,432,241 (GRCm39) |
Y344H |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,814,371 (GRCm39) |
L547P |
unknown |
Het |
| Cyp19a1 |
A |
T |
9: 54,080,617 (GRCm39) |
S247T |
possibly damaging |
Het |
| Cyp26a1 |
T |
C |
19: 37,686,925 (GRCm39) |
S126P |
probably benign |
Het |
| Dab1 |
G |
T |
4: 104,536,750 (GRCm39) |
C180F |
probably damaging |
Het |
| Dclk2 |
T |
C |
3: 86,722,400 (GRCm39) |
D412G |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,325,928 (GRCm39) |
S764C |
unknown |
Het |
| Dync1li1 |
C |
A |
9: 114,535,166 (GRCm39) |
D143E |
probably damaging |
Het |
| Esm1 |
A |
T |
13: 113,346,594 (GRCm39) |
D73V |
probably damaging |
Het |
| Etfdh |
A |
T |
3: 79,513,110 (GRCm39) |
V431E |
probably damaging |
Het |
| Fam83c |
C |
T |
2: 155,672,154 (GRCm39) |
R427H |
probably damaging |
Het |
| Galnt9 |
A |
G |
5: 110,763,375 (GRCm39) |
Y93C |
probably damaging |
Het |
| Gm6818 |
G |
A |
7: 38,100,126 (GRCm39) |
|
noncoding transcript |
Het |
| Gosr2 |
A |
G |
11: 103,574,755 (GRCm39) |
S114P |
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,836,459 (GRCm39) |
V444I |
probably benign |
Het |
| Gvin-ps3 |
T |
G |
7: 105,681,585 (GRCm39) |
|
noncoding transcript |
Het |
| Haus4 |
G |
T |
14: 54,787,256 (GRCm39) |
A67E |
probably benign |
Het |
| Hectd2 |
T |
A |
19: 36,591,738 (GRCm39) |
|
probably benign |
Het |
| Kndc1 |
T |
C |
7: 139,501,695 (GRCm39) |
Y911H |
probably benign |
Het |
| Lim2 |
T |
C |
7: 43,080,105 (GRCm39) |
Y31H |
probably damaging |
Het |
| Lims2 |
G |
A |
18: 32,077,552 (GRCm39) |
R101H |
probably benign |
Het |
| Lrrc2 |
T |
A |
9: 110,799,161 (GRCm39) |
M236K |
probably damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,510,686 (GRCm39) |
E427D |
unknown |
Het |
| Lrrk1 |
T |
C |
7: 65,912,235 (GRCm39) |
Y1775C |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,844,407 (GRCm39) |
V197A |
possibly damaging |
Het |
| Mfhas1 |
T |
A |
8: 36,056,329 (GRCm39) |
L268Q |
probably damaging |
Het |
| Mlh1 |
A |
G |
9: 111,084,726 (GRCm39) |
I216T |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,234,528 (GRCm39) |
C1016Y |
probably benign |
Het |
| Mvp |
C |
A |
7: 126,597,500 (GRCm39) |
V168F |
probably damaging |
Het |
| Mybphl |
A |
G |
3: 108,282,494 (GRCm39) |
T176A |
probably benign |
Het |
| Myt1 |
T |
A |
2: 181,437,532 (GRCm39) |
L81Q |
probably damaging |
Het |
| Ncbp3 |
T |
C |
11: 72,966,503 (GRCm39) |
L453S |
probably benign |
Het |
| Or4c1 |
T |
A |
2: 89,133,621 (GRCm39) |
E105V |
probably benign |
Het |
| Or4c114 |
T |
C |
2: 88,905,412 (GRCm39) |
T8A |
possibly damaging |
Het |
| Or55b10 |
T |
A |
7: 102,143,659 (GRCm39) |
I108F |
probably damaging |
Het |
| Or5b125-ps1 |
C |
A |
19: 13,056,226 (GRCm39) |
|
noncoding transcript |
Het |
| Or5l14 |
A |
T |
2: 87,793,053 (GRCm39) |
F61Y |
probably benign |
Het |
| Pak4 |
A |
T |
7: 28,263,674 (GRCm39) |
M354K |
probably damaging |
Het |
| Pax3 |
T |
C |
1: 78,173,383 (GRCm39) |
T2A |
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,960 (GRCm39) |
D1146G |
probably damaging |
Het |
| Pcyt1a |
T |
C |
16: 32,289,042 (GRCm39) |
|
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,650,671 (GRCm39) |
G467D |
possibly damaging |
Het |
| Plin4 |
C |
A |
17: 56,410,762 (GRCm39) |
G1090C |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,560,692 (GRCm39) |
V25A |
probably damaging |
Het |
| Ptk2b |
C |
T |
14: 66,394,518 (GRCm39) |
G859S |
probably benign |
Het |
| Ptprf |
T |
A |
4: 118,068,219 (GRCm39) |
E1772D |
probably benign |
Het |
| Sall2 |
T |
C |
14: 52,551,935 (GRCm39) |
H420R |
probably damaging |
Het |
| Sbds |
G |
A |
5: 130,279,816 (GRCm39) |
R63W |
probably damaging |
Het |
| Sccpdh |
A |
G |
1: 179,495,975 (GRCm39) |
T19A |
possibly damaging |
Het |
| Scn8a |
A |
T |
15: 100,913,572 (GRCm39) |
D988V |
probably damaging |
Het |
| Slamf6 |
C |
T |
1: 171,761,680 (GRCm39) |
Q34* |
probably null |
Het |
| Slc22a6 |
T |
A |
19: 8,601,016 (GRCm39) |
I403N |
probably damaging |
Het |
| Sox5 |
T |
C |
6: 143,781,042 (GRCm39) |
Y574C |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,889,897 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,137,716 (GRCm39) |
V1022E |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,815,635 (GRCm39) |
E292K |
possibly damaging |
Het |
| Tbx5 |
A |
T |
5: 119,979,964 (GRCm39) |
H170L |
probably damaging |
Het |
| Tcf12 |
A |
T |
9: 71,776,249 (GRCm39) |
|
probably benign |
Het |
| Themis |
G |
A |
10: 28,658,647 (GRCm39) |
R558H |
probably damaging |
Het |
| Tiam1 |
T |
C |
16: 89,640,170 (GRCm39) |
E849G |
possibly damaging |
Het |
| Vav3 |
A |
G |
3: 109,470,534 (GRCm39) |
|
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,953,956 (GRCm39) |
C707S |
possibly damaging |
Het |
| Vmn2r96 |
T |
G |
17: 18,803,270 (GRCm39) |
N201K |
probably benign |
Het |
| Zfp148 |
C |
T |
16: 33,288,505 (GRCm39) |
R207C |
probably damaging |
Het |
| Zfp648 |
G |
T |
1: 154,080,152 (GRCm39) |
A104S |
probably benign |
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 |
|
|
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 |
|
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'- CCAGATGACACCAGAGGTATTG -3'
(R):5'- GTTAAGTGCTACGGAGGTCAG -3'
Sequencing Primer
(F):5'- CTGAAGGACAGGACCCTGAGC -3'
(R):5'- AGGTCAGTGCCTCCTCTC -3'
|
| Posted On |
2015-10-21 |
Incidental Mutation