Incidental Mutation 'R5296:Apobr'
| ID |
405417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apobr
|
| Ensembl Gene |
ENSMUSG00000042759 |
| Gene Name |
apolipoprotein B receptor |
| Synonyms |
Apob48r, Apob-48r |
| MMRRC Submission |
042879-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R5296 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126184114-126188284 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 126187196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 89
(D89A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032962]
[ENSMUST00000039522]
[ENSMUST00000058429]
[ENSMUST00000084589]
[ENSMUST00000098036]
[ENSMUST00000116269]
[ENSMUST00000125508]
[ENSMUST00000144173]
[ENSMUST00000137646]
[ENSMUST00000138558]
[ENSMUST00000131860]
[ENSMUST00000128970]
[ENSMUST00000150311]
[ENSMUST00000147086]
[ENSMUST00000150917]
[ENSMUST00000150587]
|
| 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: D874A
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: D874A
| 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 damaging
Transcript: ENSMUST00000144173
AA Change: D89A
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000137646
AA Change: D62A
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000138558
AA Change: D96A
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000134246
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128049
|
| 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: 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: 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 |
noncoding transcript
Transcript: ENSMUST00000153790
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
100% (65/65) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bhlhe41 |
C |
T |
6: 145,808,694 (GRCm39) |
|
probably benign |
Het |
| Cacna1s |
G |
A |
1: 136,023,523 (GRCm39) |
V674M |
probably benign |
Het |
| Cavin2 |
T |
C |
1: 51,329,029 (GRCm39) |
|
probably null |
Het |
| Cd300lb |
T |
C |
11: 114,815,763 (GRCm39) |
S106G |
possibly damaging |
Het |
| Ceacam15 |
A |
G |
7: 16,407,121 (GRCm39) |
V132A |
probably benign |
Het |
| Ddi2 |
G |
T |
4: 141,412,076 (GRCm39) |
Q279K |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,847,151 (GRCm39) |
V4304A |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Epsti1 |
T |
A |
14: 78,142,090 (GRCm39) |
H55Q |
probably benign |
Het |
| Flad1 |
T |
C |
3: 89,318,503 (GRCm39) |
T17A |
probably damaging |
Het |
| Fzd2 |
C |
T |
11: 102,496,981 (GRCm39) |
T475M |
probably damaging |
Het |
| Gemin5 |
C |
A |
11: 58,020,887 (GRCm39) |
W1099L |
probably damaging |
Het |
| Gm9892 |
T |
C |
8: 52,649,964 (GRCm39) |
|
noncoding transcript |
Het |
| Gmeb2 |
A |
G |
2: 180,897,779 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,765,833 (GRCm39) |
E55G |
probably damaging |
Het |
| Gvin-ps3 |
A |
T |
7: 105,681,055 (GRCm39) |
|
noncoding transcript |
Het |
| Hltf |
T |
C |
3: 20,162,276 (GRCm39) |
S825P |
probably damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,139,820 (GRCm39) |
Q902L |
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,537,353 (GRCm39) |
P1037L |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lama5 |
A |
C |
2: 179,835,594 (GRCm39) |
L1253R |
probably damaging |
Het |
| Lancl2 |
T |
G |
6: 57,701,567 (GRCm39) |
S230A |
probably benign |
Het |
| Lmcd1 |
A |
G |
6: 112,292,549 (GRCm39) |
M134V |
probably damaging |
Het |
| Lrrc23 |
C |
A |
6: 124,751,445 (GRCm39) |
A205S |
probably damaging |
Het |
| Mfsd13b |
T |
A |
7: 120,590,961 (GRCm39) |
I234N |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,124,061 (GRCm39) |
S386P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,082,060 (GRCm39) |
F313V |
possibly damaging |
Het |
| Myo9b |
A |
T |
8: 71,786,032 (GRCm39) |
Q643L |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,555,745 (GRCm39) |
S2G |
unknown |
Het |
| Olfr908 |
T |
C |
9: 38,427,412 (GRCm39) |
F28S |
probably damaging |
Het |
| Or10z1 |
G |
T |
1: 174,078,322 (GRCm39) |
T57K |
possibly damaging |
Het |
| Or2n1d |
C |
T |
17: 38,646,347 (GRCm39) |
Q100* |
probably null |
Het |
| Or4x6 |
A |
T |
2: 89,949,043 (GRCm39) |
W300R |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,795,048 (GRCm39) |
V2245A |
probably damaging |
Het |
| Pkdrej |
G |
A |
15: 85,701,319 (GRCm39) |
T1539I |
possibly damaging |
Het |
| Plch2 |
G |
T |
4: 155,074,456 (GRCm39) |
|
probably null |
Het |
| Pygm |
G |
A |
19: 6,434,609 (GRCm39) |
R34H |
probably damaging |
Het |
| Rgs12 |
T |
C |
5: 35,178,448 (GRCm39) |
|
probably benign |
Het |
| Ruvbl1 |
T |
C |
6: 88,462,890 (GRCm39) |
I338T |
probably damaging |
Het |
| Sapcd1 |
T |
A |
17: 35,245,707 (GRCm39) |
Q104L |
probably damaging |
Het |
| Satb2 |
T |
C |
1: 56,836,066 (GRCm39) |
E575G |
probably damaging |
Het |
| Sema6b |
T |
A |
17: 56,434,091 (GRCm39) |
|
probably null |
Het |
| Slc25a11 |
T |
C |
11: 70,537,011 (GRCm39) |
N15D |
probably damaging |
Het |
| Slc26a6 |
C |
T |
9: 108,737,845 (GRCm39) |
T526M |
probably damaging |
Het |
| Tcaf3 |
G |
T |
6: 42,564,444 (GRCm39) |
T906K |
possibly damaging |
Het |
| Thbd |
A |
T |
2: 148,248,903 (GRCm39) |
C322S |
probably damaging |
Het |
| Traf2 |
A |
G |
2: 25,410,452 (GRCm39) |
L399P |
probably damaging |
Het |
| Troap |
T |
A |
15: 98,976,698 (GRCm39) |
V274D |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,277,099 (GRCm39) |
T3406M |
probably damaging |
Het |
| Uts2 |
G |
T |
4: 151,083,508 (GRCm39) |
A40S |
possibly damaging |
Het |
| Vmn2r109 |
T |
A |
17: 20,774,603 (GRCm39) |
I251F |
possibly damaging |
Het |
| Vmn2r67 |
A |
G |
7: 84,786,230 (GRCm39) |
S592P |
probably damaging |
Het |
| Vps13b |
T |
G |
15: 35,876,559 (GRCm39) |
W2797G |
probably damaging |
Het |
| Ythdf1 |
A |
T |
2: 180,553,981 (GRCm39) |
M51K |
probably damaging |
Het |
| Zfp60 |
T |
A |
7: 27,437,955 (GRCm39) |
|
probably benign |
Het |
| Zfp882 |
T |
A |
8: 72,668,204 (GRCm39) |
F344I |
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 |
|
|
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'- ACAGGCAGAATCTGGAAGTC -3'
(R):5'- TCCATAAGAGCTCTGGGAGGTG -3'
Sequencing Primer
(F):5'- GCAGAATCTGGAAGTCAGTTCTCC -3'
(R):5'- AGCTCTGGGAGGTGGACCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation