Incidental Mutation 'R9444:Apobr'
| ID |
713814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apobr
|
| Ensembl Gene |
ENSMUSG00000042759 |
| Gene Name |
apolipoprotein B receptor |
| Synonyms |
Apob48r, Apob-48r |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R9444 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
126184114-126188284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126185140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 217
(D217G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000039522]
[ENSMUST00000058429]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000137646]
[ENSMUST00000138558]
[ENSMUST00000144173]
[ENSMUST00000131860]
[ENSMUST00000150917]
[ENSMUST00000150311]
[ENSMUST00000150587]
[ENSMUST00000128970]
[ENSMUST00000147086]
|
| 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: D217G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: D217G
| 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 |
noncoding transcript
Transcript: ENSMUST00000134246
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138558
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128049
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128225
|
| 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: 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: 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: ENSMUST00000147086
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153790
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| 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 |
|---|
| 1700034J05Rik |
T |
C |
6: 146,854,724 (GRCm39) |
D106G |
probably damaging |
Het |
| Acacb |
T |
C |
5: 114,384,020 (GRCm39) |
I2183T |
probably damaging |
Het |
| Adam17 |
A |
C |
12: 21,375,536 (GRCm39) |
L761R |
probably benign |
Het |
| Arhgap12 |
A |
T |
18: 6,052,909 (GRCm39) |
Y434* |
probably null |
Het |
| Brwd1 |
T |
C |
16: 95,855,180 (GRCm39) |
D416G |
possibly damaging |
Het |
| C1qtnf2 |
T |
C |
11: 43,376,661 (GRCm39) |
I11T |
probably damaging |
Het |
| C1qtnf6 |
C |
T |
15: 78,411,544 (GRCm39) |
C44Y |
probably damaging |
Het |
| Cacna1d |
A |
C |
14: 29,829,741 (GRCm39) |
|
probably null |
Het |
| Card11 |
T |
A |
5: 140,894,393 (GRCm39) |
I79F |
probably damaging |
Het |
| Chuk |
T |
C |
19: 44,075,385 (GRCm39) |
D490G |
|
Het |
| Cilp2 |
T |
C |
8: 70,335,546 (GRCm39) |
D484G |
probably damaging |
Het |
| Col8a1 |
C |
A |
16: 57,448,455 (GRCm39) |
G352* |
probably null |
Het |
| Csmd1 |
A |
G |
8: 16,208,250 (GRCm39) |
F1235S |
probably benign |
Het |
| Dop1b |
T |
A |
16: 93,607,127 (GRCm39) |
D2260E |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,318,347 (GRCm39) |
F430L |
probably damaging |
Het |
| Fbxl17 |
A |
T |
17: 63,778,455 (GRCm39) |
I485K |
probably damaging |
Het |
| Frem2 |
A |
G |
3: 53,560,265 (GRCm39) |
V1414A |
probably benign |
Het |
| Galnt13 |
C |
A |
2: 55,002,928 (GRCm39) |
S578R |
probably benign |
Het |
| Gfra2 |
T |
A |
14: 71,203,751 (GRCm39) |
M300K |
possibly damaging |
Het |
| Gm12695 |
C |
T |
4: 96,612,195 (GRCm39) |
A523T |
probably damaging |
Het |
| Gm19965 |
T |
C |
1: 116,732,393 (GRCm39) |
S79P |
|
Het |
| Hsf1 |
T |
C |
15: 76,384,769 (GRCm39) |
S487P |
probably damaging |
Het |
| Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
| Jag1 |
A |
C |
2: 136,936,397 (GRCm39) |
W366G |
probably damaging |
Het |
| Larp4 |
T |
C |
15: 99,909,807 (GRCm39) |
S638P |
probably benign |
Het |
| Lipm |
A |
G |
19: 34,098,690 (GRCm39) |
D388G |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 41,013,730 (GRCm39) |
Y1925F |
|
Het |
| Lrrc37 |
G |
A |
11: 103,508,846 (GRCm39) |
Q1041* |
probably null |
Het |
| Mchr1 |
T |
C |
15: 81,121,919 (GRCm39) |
V223A |
possibly damaging |
Het |
| Mfrp |
T |
A |
9: 44,017,440 (GRCm39) |
I505N |
probably damaging |
Het |
| Msc |
T |
C |
1: 14,825,714 (GRCm39) |
K87E |
probably damaging |
Het |
| Myo7a |
A |
G |
7: 97,742,698 (GRCm39) |
F433L |
possibly damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,370,863 (GRCm39) |
R4H |
probably damaging |
Het |
| Ntrk3 |
G |
A |
7: 78,110,805 (GRCm39) |
L299F |
probably damaging |
Het |
| Nup210 |
T |
A |
6: 91,048,885 (GRCm39) |
Y457F |
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,869 (GRCm39) |
K90E |
|
Het |
| Or4k48 |
T |
C |
2: 111,476,132 (GRCm39) |
D70G |
probably damaging |
Het |
| Or5h18 |
T |
C |
16: 58,848,018 (GRCm39) |
D84G |
probably benign |
Het |
| Or5t18 |
T |
A |
2: 86,636,486 (GRCm39) |
I286F |
|
Het |
| Or8g32 |
A |
G |
9: 39,305,365 (GRCm39) |
N90D |
probably benign |
Het |
| Ovgp1 |
CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCATCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA |
CCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGCATTTCTAAGACCACCACTGGGGTTTCTAAGATCACCACTGGTGTTTCTAAGACCACCACTGGCATTTCTAAGACCA |
3: 105,893,841 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
A |
G |
10: 74,478,176 (GRCm39) |
Y217C |
probably damaging |
Het |
| Pde6h |
T |
G |
6: 136,936,359 (GRCm39) |
F34C |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,418,053 (GRCm39) |
E2903G |
probably benign |
Het |
| Pnp |
T |
C |
14: 51,188,052 (GRCm39) |
V113A |
probably damaging |
Het |
| Prss35 |
A |
G |
9: 86,638,157 (GRCm39) |
D309G |
probably damaging |
Het |
| Pzp |
T |
C |
6: 128,487,362 (GRCm39) |
R501G |
|
Het |
| Rfx8 |
A |
T |
1: 39,709,476 (GRCm39) |
V517D |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,325,623 (GRCm39) |
Y1509C |
|
Het |
| Rtp4 |
T |
C |
16: 23,431,836 (GRCm39) |
Y123H |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,302,625 (GRCm39) |
I717V |
possibly damaging |
Het |
| Stap2 |
A |
T |
17: 56,307,907 (GRCm39) |
V150E |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,495,414 (GRCm39) |
N96K |
probably damaging |
Het |
| Stoml2 |
T |
C |
4: 43,030,442 (GRCm39) |
T93A |
probably damaging |
Het |
| Suclg2 |
T |
C |
6: 95,543,474 (GRCm39) |
D319G |
probably damaging |
Het |
| Tcf12 |
C |
T |
9: 72,018,040 (GRCm39) |
D19N |
probably damaging |
Het |
| Tcp10c |
T |
A |
17: 13,581,503 (GRCm39) |
|
probably null |
Het |
| Tll1 |
T |
C |
8: 64,469,123 (GRCm39) |
Y1000C |
probably damaging |
Het |
| Trappc10 |
G |
T |
10: 78,033,612 (GRCm39) |
T985N |
probably benign |
Het |
| Trpc7 |
T |
A |
13: 56,923,968 (GRCm39) |
K794M |
possibly damaging |
Het |
| Unc5c |
G |
T |
3: 141,507,209 (GRCm39) |
|
probably null |
Het |
| Upf2 |
T |
A |
2: 6,023,755 (GRCm39) |
C702S |
unknown |
Het |
| Wdhd1 |
A |
G |
14: 47,488,324 (GRCm39) |
F728L |
possibly 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 |
|
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 |
|
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'- ACAGGAGCAGTAATACAGCC -3'
(R):5'- CAGGCCTCTCTACTCAACATGG -3'
Sequencing Primer
(F):5'- CAGTAATACAGCCCAGGAGATCTG -3'
(R):5'- TCAACATGGCCTGGTCCTCAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation