Incidental Mutation 'R4814:Apobr'
| ID |
369641 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apobr
|
| Ensembl Gene |
ENSMUSG00000042759 |
| Gene Name |
apolipoprotein B receptor |
| Synonyms |
Apob48r, Apob-48r |
| MMRRC Submission |
042432-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R4814 (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 126185859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 457
(V457M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000039522]
[ENSMUST00000058429]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000137646]
[ENSMUST00000138558]
[ENSMUST00000144173]
[ENSMUST00000131860]
[ENSMUST00000147086]
[ENSMUST00000150917]
[ENSMUST00000150587]
[ENSMUST00000150311]
[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 benign
Transcript: ENSMUST00000039522
AA Change: V457M
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: V457M
| 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: ENSMUST00000128049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128225
|
| 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000153790
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
T |
G |
16: 56,471,116 (GRCm39) |
V587G |
probably benign |
Het |
| Abtb2 |
A |
G |
2: 103,547,632 (GRCm39) |
D1002G |
probably benign |
Het |
| Acap2 |
A |
G |
16: 30,926,944 (GRCm39) |
S524P |
probably benign |
Het |
| Acsm1 |
A |
T |
7: 119,254,687 (GRCm39) |
I385L |
probably benign |
Het |
| Adra1a |
C |
G |
14: 66,875,481 (GRCm39) |
A152G |
probably benign |
Het |
| Agbl4 |
A |
T |
4: 111,513,565 (GRCm39) |
Y437F |
possibly damaging |
Het |
| Amt |
A |
G |
9: 108,176,979 (GRCm39) |
T196A |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,956,667 (GRCm39) |
K3563E |
probably damaging |
Het |
| Cdadc1 |
AGACGGA |
AGA |
14: 59,806,440 (GRCm39) |
|
probably null |
Het |
| Chrna9 |
T |
C |
5: 66,134,492 (GRCm39) |
W448R |
probably damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,427,466 (GRCm39) |
D224V |
probably damaging |
Het |
| Ddx10 |
C |
A |
9: 53,115,405 (GRCm39) |
R643L |
possibly damaging |
Het |
| Dip2c |
A |
G |
13: 9,586,896 (GRCm39) |
H200R |
probably benign |
Het |
| Dnah8 |
A |
T |
17: 30,986,898 (GRCm39) |
R3182S |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Egfr |
T |
C |
11: 16,819,354 (GRCm39) |
C295R |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,281,173 (GRCm39) |
N394K |
probably damaging |
Het |
| Gcat |
T |
C |
15: 78,915,322 (GRCm39) |
|
probably null |
Het |
| Gckr |
C |
T |
5: 31,455,644 (GRCm39) |
Q66* |
probably null |
Het |
| Gm26996 |
A |
T |
6: 130,556,317 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9386 |
C |
A |
17: 81,246,141 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr6 |
A |
T |
10: 40,947,258 (GRCm39) |
M108K |
possibly damaging |
Het |
| H2-Q10 |
A |
C |
17: 35,784,481 (GRCm39) |
|
probably benign |
Het |
| Hpf1 |
A |
G |
8: 61,346,841 (GRCm39) |
D52G |
probably damaging |
Het |
| Jak2 |
A |
G |
19: 29,279,377 (GRCm39) |
R989G |
probably damaging |
Het |
| Kat7 |
A |
G |
11: 95,193,949 (GRCm39) |
|
probably benign |
Het |
| Kcnn3 |
G |
T |
3: 89,570,031 (GRCm39) |
V615F |
probably damaging |
Het |
| Lgi1 |
G |
T |
19: 38,289,326 (GRCm39) |
|
probably null |
Het |
| Lrrtm4 |
A |
T |
6: 80,000,117 (GRCm39) |
T510S |
possibly damaging |
Het |
| Map7d1 |
A |
G |
4: 126,128,114 (GRCm39) |
|
probably null |
Het |
| Mapt |
T |
C |
11: 104,189,786 (GRCm39) |
V252A |
probably benign |
Het |
| Mbd4 |
A |
T |
6: 115,826,260 (GRCm39) |
S223T |
possibly damaging |
Het |
| Meig1 |
T |
A |
2: 3,412,959 (GRCm39) |
I21L |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,113,684 (GRCm39) |
Y447H |
probably damaging |
Het |
| Mrpl46 |
A |
C |
7: 78,430,343 (GRCm39) |
N142K |
probably benign |
Het |
| Myo18a |
C |
A |
11: 77,750,062 (GRCm39) |
|
probably benign |
Het |
| Nup188 |
A |
G |
2: 30,216,523 (GRCm39) |
T776A |
possibly damaging |
Het |
| Oas1h |
C |
A |
5: 121,000,728 (GRCm39) |
H113N |
probably damaging |
Het |
| Or6c202 |
T |
A |
10: 128,996,245 (GRCm39) |
T203S |
possibly damaging |
Het |
| Or7g18 |
A |
G |
9: 18,787,213 (GRCm39) |
I197V |
probably benign |
Het |
| Or7g27 |
C |
T |
9: 19,250,476 (GRCm39) |
T240M |
probably damaging |
Het |
| Or9i1b |
A |
T |
19: 13,896,817 (GRCm39) |
L144F |
possibly damaging |
Het |
| Orc3 |
T |
A |
4: 34,572,450 (GRCm39) |
|
probably benign |
Het |
| Osbpl3 |
T |
A |
6: 50,329,980 (GRCm39) |
L65F |
probably damaging |
Het |
| Papola |
C |
A |
12: 105,765,912 (GRCm39) |
P4Q |
probably damaging |
Het |
| Pepd |
A |
G |
7: 34,645,022 (GRCm39) |
N151S |
probably damaging |
Het |
| Plekhm2 |
A |
G |
4: 141,355,150 (GRCm39) |
L959P |
probably benign |
Het |
| Prpf40a |
A |
T |
2: 53,080,032 (GRCm39) |
H82Q |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,768,923 (GRCm39) |
T496M |
probably benign |
Het |
| Samd9l |
T |
G |
6: 3,372,863 (GRCm39) |
Q1466P |
probably damaging |
Het |
| Serpina1a |
T |
C |
12: 103,821,022 (GRCm39) |
T342A |
probably benign |
Het |
| Serpina3i |
A |
G |
12: 104,231,470 (GRCm39) |
T36A |
probably benign |
Het |
| Serpinb5 |
G |
T |
1: 106,800,069 (GRCm39) |
L86F |
probably damaging |
Het |
| Slc35g1 |
A |
G |
19: 38,391,275 (GRCm39) |
S186G |
possibly damaging |
Het |
| Slco6d1 |
T |
A |
1: 98,350,899 (GRCm39) |
D126E |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,718,763 (GRCm39) |
|
probably null |
Het |
| Smpdl3a |
C |
A |
10: 57,687,337 (GRCm39) |
T355K |
probably damaging |
Het |
| Sntg2 |
A |
G |
12: 30,423,267 (GRCm39) |
|
probably benign |
Het |
| Sox14 |
T |
A |
9: 99,757,284 (GRCm39) |
M152L |
probably benign |
Het |
| Spats2l |
G |
T |
1: 57,977,085 (GRCm39) |
A308S |
possibly damaging |
Het |
| Tcf12 |
T |
C |
9: 71,777,323 (GRCm39) |
|
probably benign |
Het |
| Tcf7l2 |
T |
A |
19: 55,912,504 (GRCm39) |
C478* |
probably null |
Het |
| Tekt5 |
A |
G |
16: 10,200,771 (GRCm39) |
L250P |
probably damaging |
Het |
| Tmem132d |
T |
G |
5: 128,061,328 (GRCm39) |
I425L |
probably benign |
Het |
| Tmem174 |
T |
A |
13: 98,773,456 (GRCm39) |
I125F |
probably damaging |
Het |
| Trafd1 |
T |
G |
5: 121,512,079 (GRCm39) |
I404L |
probably benign |
Het |
| Trpm5 |
G |
A |
7: 142,636,373 (GRCm39) |
P500S |
possibly damaging |
Het |
| Trpm6 |
T |
A |
19: 18,839,576 (GRCm39) |
N1616K |
probably benign |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,715 (GRCm39) |
D73G |
possibly damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,254,567 (GRCm39) |
I706F |
probably benign |
Het |
| Zc3h14 |
C |
G |
12: 98,719,107 (GRCm39) |
D157E |
probably damaging |
Het |
| Zfp982 |
A |
G |
4: 147,597,090 (GRCm39) |
Q149R |
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 |
|
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'- TACGGGCAGAAGAATCCTCC -3'
(R):5'- TGGCTATTTCTGCGGTCCAC -3'
Sequencing Primer
(F):5'- TCCTCCAGGGAGAAAAGGAACTC -3'
(R):5'- TGCGGTCCACACCCCTAC -3'
|
| Posted On |
2016-02-04 |
Incidental Mutation