Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01812:Apobr'

154278

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Apobr

Ensembl Gene

ENSMUSG00000042759

Gene Name

apolipoprotein B receptor

Synonyms

Apob48r, Apob-48r

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

IGL01812

Quality Score

Status

Chromosome

Chromosomal Location

126184114-126188284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126187094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 840 (D840G)

Ref Sequence

ENSEMBL: ENSMUSP00000042028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032962] [ENSMUST00000039522] [ENSMUST00000058429] [ENSMUST00000084589] [ENSMUST00000098036] [ENSMUST00000116269] [ENSMUST00000125508] [ENSMUST00000138558] [ENSMUST00000144173] [ENSMUST00000137646] [ENSMUST00000131860] [ENSMUST00000150587] [ENSMUST00000128970] [ENSMUST00000147086] [ENSMUST00000150311] [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

probably damaging
Transcript: ENSMUST00000039522
AA Change: D840G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: D840G

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: ENSMUST00000138558
AA Change: D62G

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144173
AA Change: D55G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

unknown
Transcript: ENSMUST00000137646
AA Change: D28G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134246

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: 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

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

noncoding transcript
Transcript: ENSMUST00000153790

Coding Region Coverage

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alpk3	A	G	7: 80,749,950 (GRCm39)	Y1456C	probably damaging	Het
Arb2a	T	A	13: 77,909,966 (GRCm39)	L27*	probably null	Het
Cd300lf	T	C	11: 115,011,114 (GRCm39)	R175G	probably damaging	Het
Chil5	A	G	3: 105,924,468 (GRCm39)	S426P	possibly damaging	Het
Cngb3	T	G	4: 19,461,728 (GRCm39)	I536M	possibly damaging	Het
Cracdl	T	A	1: 37,664,446 (GRCm39)	D484V	probably benign	Het
Cyp4f15	G	A	17: 32,905,131 (GRCm39)	R38H	probably benign	Het
Ddb1	A	C	19: 10,590,382 (GRCm39)	E303A	probably damaging	Het
Dis3l	T	A	9: 64,217,519 (GRCm39)	E822V	probably benign	Het
Erich3	T	C	3: 154,419,608 (GRCm39)	V234A	possibly damaging	Het
Evi5l	T	C	8: 4,243,219 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,734,894 (GRCm39)		probably benign	Het
Ganc	A	G	2: 120,242,007 (GRCm39)	I62V	probably benign	Het
Itpkb	T	C	1: 180,247,851 (GRCm39)	F823S	probably damaging	Het
Izumo2	A	G	7: 44,358,519 (GRCm39)	N14S	possibly damaging	Het
Matcap1	C	T	8: 106,011,289 (GRCm39)		probably benign	Het
Nbas	T	C	12: 13,503,504 (GRCm39)	C1545R	probably damaging	Het
Or4c108	A	T	2: 88,803,868 (GRCm39)	Y122*	probably null	Het
Pds5b	A	T	5: 150,704,154 (GRCm39)	R852S	probably damaging	Het
Polh	G	A	17: 46,483,837 (GRCm39)	A476V	probably benign	Het
Prune2	T	A	19: 16,981,141 (GRCm39)	D99E	possibly damaging	Het
Tdrd6	A	G	17: 43,936,065 (GRCm39)	V1661A	probably benign	Het
Tor1aip2	A	G	1: 155,935,285 (GRCm39)	S7G	probably benign	Het
Vps13a	A	G	19: 16,692,424 (GRCm39)	V830A	probably benign	Het
Vps39	G	A	2: 120,151,271 (GRCm39)		probably benign	Het
Zdhhc17	T	A	10: 110,784,078 (GRCm39)	H466L	possibly damaging	Het

Other mutations in Apobr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-02-04