Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02373:Apobr'

290994

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: 0.089) question?

Stock #

IGL02373

Quality Score

Status

Chromosome

Chromosomal Location

126184114-126188284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126184563 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 25 (F25I)

Ref Sequence

ENSEMBL: ENSMUSP00000042028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032962] [ENSMUST00000039522] [ENSMUST00000058429] [ENSMUST00000084589] [ENSMUST00000098036] [ENSMUST00000116269] [ENSMUST00000125508] [ENSMUST00000131860] [ENSMUST00000144173] [ENSMUST00000137646] [ENSMUST00000138558] [ENSMUST00000128970] [ENSMUST00000150311] [ENSMUST00000150587] [ENSMUST00000147086] [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: F25I

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

SMART Domains

Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: F25I

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

possibly damaging
Transcript: ENSMUST00000131860
AA Change: F25I

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134406

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134498

Predicted Effect

probably benign
Transcript: ENSMUST00000144173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128225

Predicted Effect

probably benign
Transcript: ENSMUST00000137646

Predicted Effect

probably benign
Transcript: ENSMUST00000138558

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: 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: 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl1	C	T	4: 86,168,042 (GRCm39)	L462F	probably damaging	Het
Adgrv1	T	C	13: 81,607,832 (GRCm39)	D4080G	possibly damaging	Het
Apc	A	C	18: 34,449,212 (GRCm39)	D2002A	probably damaging	Het
Cyp4a10	T	A	4: 115,378,274 (GRCm39)	L120*	probably null	Het
Daam2	A	G	17: 49,780,408 (GRCm39)	S704P	probably damaging	Het
Dcst1	G	T	3: 89,265,198 (GRCm39)	N217K	probably damaging	Het
Efr3b	C	T	12: 4,033,391 (GRCm39)	V139I	probably benign	Het
Fmn1	C	A	2: 113,194,471 (GRCm39)	P57Q	unknown	Het
Galnt1	G	A	18: 24,413,092 (GRCm39)	G464D	possibly damaging	Het
Ggcx	T	A	6: 72,404,902 (GRCm39)	W437R	probably damaging	Het
Igkv13-54-1	T	C	6: 69,594,304 (GRCm39)		noncoding transcript	Het
Iglon5	T	C	7: 43,128,643 (GRCm39)	E58G	probably benign	Het
Met	C	T	6: 17,491,528 (GRCm39)	P97S	probably damaging	Het
Msantd5f6	T	C	4: 73,321,880 (GRCm39)	M52V	probably benign	Het
Myg1	T	A	15: 102,245,268 (GRCm39)	M158K	probably damaging	Het
Ncald	T	A	15: 37,372,453 (GRCm39)	M131L	probably benign	Het
Nipa2	T	C	7: 55,582,876 (GRCm39)	I290V	probably benign	Het
Or4f14b	C	A	2: 111,775,178 (GRCm39)	V208L	probably benign	Het
Or5p79	A	T	7: 108,221,310 (GRCm39)	Y97F	probably benign	Het
Or6c219	A	G	10: 129,781,334 (GRCm39)	L84S	probably benign	Het
Ppfia3	C	T	7: 45,008,273 (GRCm39)	R48Q	probably damaging	Het
Rab12	A	G	17: 66,805,060 (GRCm39)	L156P	probably damaging	Het
Slc28a3	C	T	13: 58,726,218 (GRCm39)		probably null	Het
Slc4a11	T	C	2: 130,526,818 (GRCm39)	N770S	probably benign	Het
Tanc1	T	C	2: 59,626,372 (GRCm39)		probably null	Het
Vmn2r130	A	T	17: 23,295,866 (GRCm39)	R679*	probably null	Het
Vwa5b2	G	A	16: 20,423,594 (GRCm39)	R1169H	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
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

2015-04-16