Incidental Mutation 'R5176:Apobr'
| ID |
399287 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apobr
|
| Ensembl Gene |
ENSMUSG00000042759 |
| Gene Name |
apolipoprotein B receptor |
| Synonyms |
Apob48r, Apob-48r |
| MMRRC Submission |
042756-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5176 (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 126184188 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 2
(D2G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000039522]
[ENSMUST00000058429]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000137646]
[ENSMUST00000131860]
[ENSMUST00000144173]
[ENSMUST00000138558]
[ENSMUST00000150587]
[ENSMUST00000147086]
[ENSMUST00000150311]
[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: D2G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: D2G
| 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 |
unknown
Transcript: ENSMUST00000137646
AA Change: D2G
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131860
AA Change: D2G
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144173
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134498
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138558
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134246
|
| 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: 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: 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 |
0.2354 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (69/70) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
C |
A |
10: 79,834,123 (GRCm39) |
H116Q |
probably benign |
Het |
| Akap12 |
G |
T |
10: 4,303,947 (GRCm39) |
E252D |
probably benign |
Het |
| Arhgef12 |
A |
T |
9: 42,931,982 (GRCm39) |
H168Q |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,357 (GRCm39) |
|
probably null |
Het |
| Brip1 |
T |
C |
11: 85,968,710 (GRCm39) |
Y825C |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,525,143 (GRCm39) |
Y1679N |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 54,951,296 (GRCm39) |
A42T |
probably benign |
Het |
| Cds1 |
G |
T |
5: 101,929,286 (GRCm39) |
D55Y |
possibly damaging |
Het |
| Cep135 |
C |
A |
5: 76,784,873 (GRCm39) |
D989E |
probably benign |
Het |
| Cpsf6 |
C |
A |
10: 117,197,189 (GRCm39) |
|
probably benign |
Het |
| Ctif |
C |
T |
18: 75,770,290 (GRCm39) |
V32M |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dao |
T |
C |
5: 114,158,070 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
A |
9: 86,403,868 (GRCm39) |
N1689K |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,536,931 (GRCm39) |
Y14C |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,777,290 (GRCm39) |
R365C |
probably damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,770,598 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,359,613 (GRCm39) |
N51S |
probably damaging |
Het |
| Fkbp15 |
G |
T |
4: 62,230,560 (GRCm39) |
L718I |
possibly damaging |
Het |
| Gabbr2 |
C |
A |
4: 46,681,208 (GRCm39) |
V118F |
probably damaging |
Het |
| Gm13991 |
T |
A |
2: 116,358,508 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M9 |
T |
C |
17: 36,952,523 (GRCm39) |
I174M |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,421 (GRCm39) |
M364V |
probably benign |
Het |
| Insr |
T |
A |
8: 3,208,742 (GRCm39) |
M1240L |
probably benign |
Het |
| Ints15 |
G |
T |
5: 143,300,830 (GRCm39) |
S7* |
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Mad2l1bp |
T |
A |
17: 46,463,738 (GRCm39) |
E95D |
probably benign |
Het |
| Marchf9 |
T |
C |
10: 126,895,319 (GRCm39) |
D102G |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,776,374 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h4 |
T |
A |
10: 89,334,117 (GRCm39) |
Y91F |
probably benign |
Het |
| Nr5a2 |
A |
T |
1: 136,876,540 (GRCm39) |
M1K |
probably null |
Het |
| Oprd1 |
T |
C |
4: 131,841,104 (GRCm39) |
T285A |
probably benign |
Het |
| Optc |
T |
C |
1: 133,829,822 (GRCm39) |
N196S |
probably benign |
Het |
| Or51f5 |
T |
A |
7: 102,424,513 (GRCm39) |
S261T |
probably damaging |
Het |
| Or5g29 |
A |
C |
2: 85,421,779 (GRCm39) |
K298N |
possibly damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,656 (GRCm39) |
Y132F |
probably damaging |
Het |
| Panx2 |
G |
T |
15: 88,944,431 (GRCm39) |
R52L |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,333,389 (GRCm39) |
F211L |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 56,006,995 (GRCm39) |
T41S |
probably benign |
Het |
| Prss56 |
T |
C |
1: 87,111,880 (GRCm39) |
L37S |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,393,864 (GRCm39) |
T870A |
probably damaging |
Het |
| Rabep2 |
C |
A |
7: 126,033,465 (GRCm39) |
|
probably benign |
Het |
| Rbm48 |
A |
C |
5: 3,645,444 (GRCm39) |
V80G |
probably damaging |
Het |
| Rhou |
G |
T |
8: 124,380,848 (GRCm39) |
C55F |
possibly damaging |
Het |
| Rnaseh2c |
A |
G |
19: 5,652,070 (GRCm39) |
D45G |
probably benign |
Het |
| Rusc1 |
A |
G |
3: 88,996,389 (GRCm39) |
S109P |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,588,012 (GRCm39) |
D2643G |
possibly damaging |
Het |
| Septin4 |
T |
A |
11: 87,458,358 (GRCm39) |
M244K |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,810,703 (GRCm39) |
E471G |
probably benign |
Het |
| Sipa1 |
A |
G |
19: 5,709,406 (GRCm39) |
S310P |
probably damaging |
Het |
| Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,203,587 (GRCm39) |
E1680G |
unknown |
Het |
| Steap3 |
C |
T |
1: 120,171,497 (GRCm39) |
|
probably null |
Het |
| Tmeff2 |
T |
A |
1: 51,110,700 (GRCm39) |
C171* |
probably null |
Het |
| Tmem138 |
A |
T |
19: 10,552,634 (GRCm39) |
M33K |
probably benign |
Het |
| Trappc11 |
C |
A |
8: 47,963,998 (GRCm39) |
V601L |
possibly damaging |
Het |
| Ttll4 |
C |
A |
1: 74,718,445 (GRCm39) |
H99N |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,143,022 (GRCm39) |
K168* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 55,106,913 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
A |
G |
11: 23,245,977 (GRCm39) |
D1029G |
probably damaging |
Het |
| Zfp719 |
G |
T |
7: 43,240,549 (GRCm39) |
K712N |
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 |
|
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'- GACACTGTTAAGCCATCCCC -3'
(R):5'- GGTACACTTGTAGAGGCAGG -3'
Sequencing Primer
(F):5'- CCCCTGCCTGTCATGAAG -3'
(R):5'- TACACTTGTAGAGGCAGGAGATTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation