Mutagenetix > Incidental Mutation

Incidental Mutation 'R9063:Apobr'

689089

Institutional Source

Beutler Lab

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 #

R9063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126184114-126188284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 126185920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 477 (T477I)

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

probably benign
Transcript: ENSMUST00000039522
AA Change: T477I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: T477I

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: 99.7%
20x: 99.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	G	7: 115,703,660 (GRCm39)	S178A	probably benign	Het
Add3	T	C	19: 53,222,302 (GRCm39)	L303P	probably damaging	Het
Agr2	T	A	12: 36,053,898 (GRCm39)	*176K	probably null	Het
Cdca7l	G	A	12: 117,838,536 (GRCm39)	V336M	probably damaging	Het
Cep63	T	G	9: 102,496,227 (GRCm39)	H18P	unknown	Het
Copa	A	G	1: 171,944,529 (GRCm39)	D838G	probably benign	Het
Cspg4	G	T	9: 56,795,687 (GRCm39)	V1141L	probably benign	Het
D930020B18Rik	A	G	10: 121,497,002 (GRCm39)	T146A	probably benign	Het
Dapk1	A	T	13: 60,866,264 (GRCm39)	I206L	probably benign	Het
Emsy	C	T	7: 98,295,684 (GRCm39)	D73N	probably damaging	Het
Esr2	A	T	12: 76,168,590 (GRCm39)	Y540N	probably benign	Het
Exoc7	C	A	11: 116,180,101 (GRCm39)	V668L	probably benign	Het
Fcgbp	C	T	7: 27,791,277 (GRCm39)	T846I	probably damaging	Het
Fhod3	A	G	18: 25,153,772 (GRCm39)	E418G	probably damaging	Het
Fryl	G	A	5: 73,238,346 (GRCm39)	R1467C	possibly damaging	Het
Gas2l3	A	G	10: 89,249,558 (GRCm39)	I520T	probably benign	Het
Gfod1	A	G	13: 43,354,280 (GRCm39)	C232R	probably benign	Het
Gpr61	T	C	3: 108,057,555 (GRCm39)	R369G	probably benign	Het
Hk1	T	C	10: 62,122,429 (GRCm39)	Y423C	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,635,580 (GRCm39)	R79G	probably benign	Het
Kcnn4	T	A	7: 24,076,934 (GRCm39)	V161E	probably damaging	Het
Kif15	T	A	9: 122,833,706 (GRCm39)	I1040N	probably damaging	Het
Kif2b	A	G	11: 91,466,654 (GRCm39)	L543S	probably damaging	Het
Kpna2	A	G	11: 106,883,489 (GRCm39)	I81T	probably benign	Het
Krt12	A	G	11: 99,307,757 (GRCm39)	S444P	probably benign	Het
Lmnb2	C	T	10: 80,742,005 (GRCm39)	V29M	probably benign	Het
Lmod2	T	C	6: 24,603,364 (GRCm39)	V113A	probably benign	Het
Lrp1b	T	C	2: 41,231,838 (GRCm39)	T1211A		Het
Lrrc8d	T	C	5: 105,961,959 (GRCm39)	S790P	probably damaging	Het
Map3k4	A	G	17: 12,482,878 (GRCm39)	V613A	probably damaging	Het
Marveld2	T	C	13: 100,748,653 (GRCm39)	N142S	probably benign	Het
Mgll	G	A	6: 88,802,690 (GRCm39)	V282I	possibly damaging	Het
Mief2	G	A	11: 60,622,314 (GRCm39)	E295K	probably damaging	Het
Mmrn2	A	T	14: 34,120,567 (GRCm39)	H479L	probably benign	Het
Myh15	T	A	16: 48,913,118 (GRCm39)	N358K	probably benign	Het
Mzf1	T	G	7: 12,787,005 (GRCm39)	K101Q	probably damaging	Het
Ncbp3	T	A	11: 72,964,253 (GRCm39)	L401Q	probably damaging	Het
Nck2	T	C	1: 43,593,503 (GRCm39)	C237R	possibly damaging	Het
Nlrp9a	T	G	7: 26,273,291 (GRCm39)	N976K	possibly damaging	Het
Nol11	A	G	11: 107,064,240 (GRCm39)	V524A	probably benign	Het
Nol11	T	C	11: 107,069,857 (GRCm39)	Y331C	possibly damaging	Het
Nsmf	A	T	2: 24,952,622 (GRCm39)	H149L	probably benign	Het
Olfm3	T	C	3: 114,914,582 (GRCm39)	V231A	probably benign	Het
Or1l4b	A	T	2: 37,036,646 (GRCm39)	M141L	probably benign	Het
Or51a6	A	G	7: 102,604,446 (GRCm39)	S121P	probably benign	Het
Or55b4	T	C	7: 102,133,931 (GRCm39)	Y132C	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,739 (GRCm39)	F178Y	probably damaging	Het
Plk2	T	A	13: 110,532,920 (GRCm39)	S160R	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1cc	A	G	5: 122,306,279 (GRCm39)	N33D	probably benign	Het
Ptpn23	T	C	9: 110,218,693 (GRCm39)	E499G	possibly damaging	Het
Pwp1	A	G	10: 85,720,431 (GRCm39)	H356R	probably benign	Het
Rbsn	G	T	6: 92,171,000 (GRCm39)	T307K	probably benign	Het
Rnf19a	G	A	15: 36,265,615 (GRCm39)	Q161*	probably null	Het
Scin	T	C	12: 40,134,336 (GRCm39)	D236G	possibly damaging	Het
Setd1a	G	A	7: 127,385,558 (GRCm39)	R755H	possibly damaging	Het
Sik3	C	T	9: 46,123,735 (GRCm39)	T1178I	probably benign	Het
Slc49a3	A	G	5: 108,590,103 (GRCm39)	L433P	probably damaging	Het
Tex26	C	T	5: 149,393,826 (GRCm39)	R272C	probably damaging	Het
Trim60	T	A	8: 65,453,465 (GRCm39)	K261N	possibly damaging	Het
Tspan9	A	G	6: 127,944,072 (GRCm39)	I76T	probably damaging	Het
Ttn	T	A	2: 76,588,833 (GRCm39)	Y21412F	probably damaging	Het
Ttn	A	T	2: 76,710,907 (GRCm39)	I8409N	unknown	Het
Unc80	T	C	1: 66,645,816 (GRCm39)		probably null	Het
Ush2a	A	T	1: 187,995,457 (GRCm39)	Q76L	probably benign	Het
Usp1	G	A	4: 98,819,389 (GRCm39)	V284I	probably benign	Het
Usp31	A	G	7: 121,306,466 (GRCm39)	V4A	probably benign	Het
Vmn2r88	G	A	14: 51,648,329 (GRCm39)		probably benign	Het
Zfp959	G	A	17: 56,204,221 (GRCm39)	R86K	probably benign	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
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'- TCCAGAAGTCAGCACTGAGGAG -3'
(R):5'- AAGTGCTACGGAGGTCAGTG -3'

Sequencing Primer
(F):5'- AAGTCAGCACTGAGGAGTTGTTTG -3'
(R):5'- CGAAGACCTCTGGCTGTTG -3'

Posted On

2021-11-19