Incidental Mutation 'R9405:Apobr'
ID |
711462 |
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 # |
R9405 (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 126184704 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 72
(S72G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000039522]
[ENSMUST00000058429]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000128970]
[ENSMUST00000131860]
[ENSMUST00000137646]
[ENSMUST00000138558]
[ENSMUST00000144173]
[ENSMUST00000147086]
[ENSMUST00000150311]
[ENSMUST00000150587]
[ENSMUST00000150917]
|
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 |
possibly damaging
Transcript: ENSMUST00000039522
AA Change: S72G
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000042028 Gene: ENSMUSG00000042759 AA Change: S72G
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: 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: ENSMUST00000131860
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137646
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138558
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144173
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
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 |
Acaa1b |
T |
A |
9: 118,978,506 (GRCm39) |
Q277L |
probably damaging |
Het |
Adamts18 |
A |
G |
8: 114,430,030 (GRCm39) |
V1135A |
probably damaging |
Het |
Arl13b |
T |
A |
16: 62,632,260 (GRCm39) |
Q214L |
possibly damaging |
Het |
Armt1 |
AC |
A |
10: 4,400,848 (GRCm39) |
|
probably null |
Het |
Asah2 |
T |
G |
19: 31,986,045 (GRCm39) |
T542P |
possibly damaging |
Het |
Asns |
C |
T |
6: 7,689,283 (GRCm39) |
C73Y |
probably damaging |
Het |
Calhm2 |
T |
A |
19: 47,124,108 (GRCm39) |
T79S |
probably benign |
Het |
Cd300c2 |
T |
G |
11: 114,891,587 (GRCm39) |
T96P |
probably damaging |
Het |
Copb1 |
G |
A |
7: 113,822,458 (GRCm39) |
T757I |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,539,187 (GRCm39) |
T1517S |
|
Het |
Ddx60 |
T |
A |
8: 62,425,248 (GRCm39) |
L679M |
probably benign |
Het |
Dip2b |
A |
G |
15: 100,093,757 (GRCm39) |
K1123R |
probably benign |
Het |
Dnah17 |
A |
G |
11: 118,009,737 (GRCm39) |
S612P |
probably benign |
Het |
Dnah5 |
T |
A |
15: 28,272,306 (GRCm39) |
C1037S |
probably benign |
Het |
Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,694,137 (GRCm39) |
I244N |
possibly damaging |
Het |
Epb41l4a |
C |
A |
18: 33,943,271 (GRCm39) |
|
probably null |
Het |
Fam83b |
A |
G |
9: 76,398,703 (GRCm39) |
M800T |
possibly damaging |
Het |
Fcf1 |
T |
G |
12: 85,021,013 (GRCm39) |
C98G |
probably benign |
Het |
H2bc3 |
T |
C |
13: 23,931,141 (GRCm39) |
Y122H |
probably benign |
Het |
Hltf |
G |
T |
3: 20,137,094 (GRCm39) |
Q417H |
possibly damaging |
Het |
Hmg20b |
T |
C |
10: 81,185,258 (GRCm39) |
S35G |
probably benign |
Het |
Igkv4-57-1 |
T |
G |
6: 69,521,525 (GRCm39) |
Y59S |
probably damaging |
Het |
Irs2 |
C |
T |
8: 11,055,061 (GRCm39) |
V1124I |
possibly damaging |
Het |
Kprp |
A |
G |
3: 92,731,560 (GRCm39) |
C497R |
unknown |
Het |
Krt15 |
A |
T |
11: 100,022,961 (GRCm39) |
V418E |
probably benign |
Het |
Lce1e |
G |
A |
3: 92,615,312 (GRCm39) |
P12S |
unknown |
Het |
Lsmem1 |
T |
C |
12: 40,227,113 (GRCm39) |
D124G |
probably damaging |
Het |
Morc3 |
T |
C |
16: 93,642,036 (GRCm39) |
F85S |
probably damaging |
Het |
Mtnr1b |
A |
T |
9: 15,774,447 (GRCm39) |
V204E |
possibly damaging |
Het |
Myo7b |
C |
T |
18: 32,109,356 (GRCm39) |
A1172T |
probably benign |
Het |
Nbeal1 |
T |
A |
1: 60,349,424 (GRCm39) |
I2362N |
probably damaging |
Het |
Nde1 |
T |
G |
16: 14,006,255 (GRCm39) |
L261R |
probably damaging |
Het |
Neurl1b |
A |
G |
17: 26,658,265 (GRCm39) |
D401G |
probably benign |
Het |
Nfkb2 |
T |
C |
19: 46,296,839 (GRCm39) |
V303A |
probably damaging |
Het |
Nlrc5 |
C |
T |
8: 95,199,652 (GRCm39) |
P88S |
probably damaging |
Het |
Or10ad1b |
T |
A |
15: 98,124,912 (GRCm39) |
I207F |
possibly damaging |
Het |
Or4k36 |
T |
A |
2: 111,146,460 (GRCm39) |
I212K |
possibly damaging |
Het |
Or6c203 |
T |
A |
10: 129,010,165 (GRCm39) |
M242L |
probably benign |
Het |
Pde1c |
T |
A |
6: 56,049,199 (GRCm39) |
K705* |
probably null |
Het |
Pear1 |
A |
T |
3: 87,659,890 (GRCm39) |
F699I |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Prickle1 |
A |
T |
15: 93,400,861 (GRCm39) |
L541* |
probably null |
Het |
Prss39 |
G |
A |
1: 34,538,344 (GRCm39) |
G70S |
probably damaging |
Het |
Prune2 |
T |
G |
19: 17,193,708 (GRCm39) |
N3065K |
probably damaging |
Het |
Qrfprl |
T |
A |
6: 65,433,078 (GRCm39) |
N299K |
probably benign |
Het |
Rdh5 |
A |
C |
10: 128,753,937 (GRCm39) |
D127E |
probably benign |
Het |
Ryr3 |
G |
A |
2: 112,664,612 (GRCm39) |
H1580Y |
probably damaging |
Het |
Sash1 |
G |
A |
10: 8,637,994 (GRCm39) |
|
probably benign |
Het |
Scgb3a2 |
T |
A |
18: 43,900,129 (GRCm39) |
L139Q |
possibly damaging |
Het |
Six1 |
A |
G |
12: 73,093,095 (GRCm39) |
S36P |
probably damaging |
Het |
Slc30a5 |
T |
C |
13: 100,950,416 (GRCm39) |
I281V |
probably benign |
Het |
Snai2 |
T |
A |
16: 14,524,589 (GRCm39) |
Y32N |
probably benign |
Het |
Stat2 |
T |
C |
10: 128,114,634 (GRCm39) |
S244P |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,152,030 (GRCm39) |
I5759T |
probably damaging |
Het |
Tbc1d23 |
T |
C |
16: 57,012,985 (GRCm39) |
N329S |
possibly damaging |
Het |
Tex2 |
A |
T |
11: 106,435,214 (GRCm39) |
S737R |
unknown |
Het |
Trav13d-3 |
G |
A |
14: 53,270,715 (GRCm39) |
R59H |
probably benign |
Het |
Tspan9 |
C |
T |
6: 127,944,124 (GRCm39) |
A59T |
probably benign |
Het |
Usp53 |
G |
A |
3: 122,746,918 (GRCm39) |
A349V |
probably damaging |
Het |
Vmn1r188 |
T |
C |
13: 22,272,898 (GRCm39) |
L284P |
probably damaging |
Het |
Vmn2r85 |
T |
C |
10: 130,261,215 (GRCm39) |
N374S |
probably damaging |
Het |
Zfp622 |
A |
T |
15: 25,985,035 (GRCm39) |
I134F |
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 |
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 |
|
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'- AAGTGGTTAGACCTCCCCTGAG -3'
(R):5'- GGGCTGTATTACTGCTCCTG -3'
Sequencing Primer
(F):5'- TAGACCTCCCCTGAGTGCCTTC -3'
(R):5'- CTGTCTCTGTGAGTCCCAGG -3'
|
Posted On |
2022-05-16 |