Mutagenetix > Incidental Mutation

Incidental Mutation 'R2143:Apobr'

236502

Institutional Source

Beutler Lab

Gene Symbol

Apobr

Ensembl Gene

ENSMUSG00000042759

Gene Name

apolipoprotein B receptor

Synonyms

Apob48r, Apob-48r

MMRRC Submission

040146-MU

Accession Numbers

Essential gene?

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

Stock #

R2143 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126184114-126188284 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 126186288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 600 (E600K)

Ref Sequence

ENSEMBL: ENSMUSP00000042028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032962] [ENSMUST00000039522] [ENSMUST00000058429] [ENSMUST00000084589] [ENSMUST00000098036] [ENSMUST00000116269] [ENSMUST00000125508] [ENSMUST00000138558] [ENSMUST00000137646] [ENSMUST00000144173] [ENSMUST00000131860] [ENSMUST00000150917] [ENSMUST00000147086] [ENSMUST00000150587] [ENSMUST00000128970] [ENSMUST00000150311]

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: E600K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: E600K

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: E13K

Predicted Effect

probably benign
Transcript: ENSMUST00000137646

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: ENSMUST00000128049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128225

Predicted Effect

probably benign
Transcript: ENSMUST00000131860

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: ENSMUST00000147086

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: ENSMUST00000150311

SMART Domains

Protein: ENSMUSP00000116160
Gene: ENSMUSG00000030720

Domain	Start	End	E-Value	Type
Pfam:CLN3	37	69	1.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153790

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.3%

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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	G	C	16: 88,556,053 (GRCm39)	S89T	probably benign	Het
4930522L14Rik	C	G	5: 109,884,616 (GRCm39)	C414S	probably damaging	Het
4930553M12Rik	G	A	4: 88,786,411 (GRCm39)	T69I	unknown	Het
4930553M12Rik	T	A	4: 88,786,412 (GRCm39)	T69S	unknown	Het
Armc8	C	A	9: 99,387,361 (GRCm39)	R419L	probably damaging	Het
Ash1l	T	A	3: 88,892,726 (GRCm39)	M1535K	probably benign	Het
Atf7ip2	A	G	16: 10,058,509 (GRCm39)	E316G	probably null	Het
Atp2a1	G	A	7: 126,047,897 (GRCm39)	R638*	probably null	Het
Atp8b4	A	T	2: 126,216,430 (GRCm39)	I672N	probably damaging	Het
Atrn	T	C	2: 130,799,916 (GRCm39)	V431A	probably benign	Het
Babam1	T	C	8: 71,851,084 (GRCm39)	S116P	probably damaging	Het
Ccdc142	T	C	6: 83,079,203 (GRCm39)	L180P	probably damaging	Het
Cd52	T	C	4: 133,821,048 (GRCm39)		probably benign	Het
Cdk17	T	C	10: 93,053,881 (GRCm39)	L125P	probably damaging	Het
Ckap5	A	G	2: 91,396,090 (GRCm39)	D531G	probably benign	Het
Cntn5	G	T	9: 9,748,420 (GRCm39)	P487Q	probably damaging	Het
Crispld1	C	T	1: 17,819,860 (GRCm39)	T286I	probably benign	Het
Crtap	T	C	9: 114,209,036 (GRCm39)	Y336C	probably damaging	Het
Ctu2	T	A	8: 123,205,891 (GRCm39)	I213K	probably benign	Het
Dmac2l	A	G	12: 69,787,828 (GRCm39)	Q88R	probably damaging	Het
Dsc3	A	G	18: 20,113,743 (GRCm39)	F393S	possibly damaging	Het
Dsg2	T	A	18: 20,712,218 (GRCm39)	I118N	probably damaging	Het
Dstyk	T	A	1: 132,391,113 (GRCm39)	M838K	probably damaging	Het
Elmo3	T	C	8: 106,035,305 (GRCm39)	V450A	probably damaging	Het
Eml5	A	C	12: 98,776,864 (GRCm39)	F1417C	probably damaging	Het
Enam	T	A	5: 88,640,779 (GRCm39)	M147K	probably benign	Het
Entpd1	T	C	19: 40,725,227 (GRCm39)	Y409H	probably damaging	Het
Extl1	C	A	4: 134,098,355 (GRCm39)	E225D	probably benign	Het
Fbn2	A	G	18: 58,186,065 (GRCm39)	V1761A	possibly damaging	Het
Fsip2	A	T	2: 82,820,615 (GRCm39)	L5449F	possibly damaging	Het
Gabra5	G	A	7: 57,138,763 (GRCm39)	T95I	probably damaging	Het
Gal3st2c	C	T	1: 93,937,173 (GRCm39)	Q373*	probably null	Het
Gbp5	A	C	3: 142,209,593 (GRCm39)	T180P	probably damaging	Het
Glb1	T	C	9: 114,266,892 (GRCm39)	L212P	probably damaging	Het
Gm11596	A	T	11: 99,683,789 (GRCm39)	C110*	probably null	Het
Gpat2	T	C	2: 127,275,682 (GRCm39)	F487L	probably damaging	Het
Hsph1	A	T	5: 149,554,951 (GRCm39)	H110Q	probably damaging	Het
Ikbke	C	A	1: 131,201,211 (GRCm39)	V176L	probably damaging	Het
Ildr2	T	C	1: 166,096,895 (GRCm39)	V38A	probably damaging	Het
Inpp4a	G	T	1: 37,426,827 (GRCm39)	C326F	probably damaging	Het
Irak2	T	A	6: 113,649,788 (GRCm39)	V141D	probably benign	Het
Jade1	G	A	3: 41,559,143 (GRCm39)	R408Q	probably benign	Het
Jmjd7	C	A	2: 119,860,601 (GRCm39)		probably null	Het
Kdm7a	C	T	6: 39,145,884 (GRCm39)	V348I	possibly damaging	Het
Kif20a	A	G	18: 34,758,657 (GRCm39)	D42G	possibly damaging	Het
Klhl7	A	T	5: 24,305,861 (GRCm39)	M37L	probably benign	Het
Krt5	A	G	15: 101,620,794 (GRCm39)	I151T	probably damaging	Het
Krtap1-5	T	C	11: 99,471,644 (GRCm39)	I50V	probably benign	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc71	C	T	3: 87,652,828 (GRCm39)	W148*	probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Map1a	T	A	2: 121,132,426 (GRCm39)	S843T	probably damaging	Het
Map1s	T	A	8: 71,363,608 (GRCm39)	D48E	probably damaging	Het
Mast4	A	G	13: 102,871,983 (GRCm39)	F2462L	possibly damaging	Het
Mettl21e	T	A	1: 44,249,398 (GRCm39)	Y86F	probably benign	Het
Myh6	A	T	14: 55,190,411 (GRCm39)	D1035E	probably damaging	Het
Naip6	C	T	13: 100,436,367 (GRCm39)	D719N	probably damaging	Het
Nat8f2	T	G	6: 85,845,239 (GRCm39)	H41P	probably benign	Het
Ncam1	T	A	9: 49,454,319 (GRCm39)	Q597L	possibly damaging	Het
Nek1	T	A	8: 61,481,730 (GRCm39)	I215K	probably damaging	Het
Nol11	A	T	11: 107,071,881 (GRCm39)	S237R	probably benign	Het
Npr2	T	C	4: 43,648,166 (GRCm39)	F870S	probably damaging	Het
Nsd1	T	C	13: 55,408,210 (GRCm39)	Y1285H	probably damaging	Het
Nup93	C	T	8: 95,023,108 (GRCm39)	Q229*	probably null	Het
Or4a15	C	T	2: 89,193,447 (GRCm39)	E109K	probably damaging	Het
Or7g12	G	A	9: 18,900,099 (GRCm39)	A272T	probably benign	Het
Pappa	T	A	4: 65,099,186 (GRCm39)	Y568*	probably null	Het
Parva	A	G	7: 112,159,274 (GRCm39)	D180G	possibly damaging	Het
Pask	C	T	1: 93,249,019 (GRCm39)	A794T	probably benign	Het
Pax1	T	A	2: 147,207,802 (GRCm39)	C225S	probably damaging	Het
Pde4dip	T	A	3: 97,795,835 (GRCm39)	E51V	possibly damaging	Het
Pde6c	A	T	19: 38,150,777 (GRCm39)	H562L	probably damaging	Het
Pet100	T	G	8: 3,672,355 (GRCm39)	L14R	probably damaging	Het
Pfkfb2	T	C	1: 130,626,460 (GRCm39)	T438A	probably benign	Het
Pira2	A	T	7: 3,847,344 (GRCm39)	L115Q	probably damaging	Het
Polr2d	T	A	18: 31,929,132 (GRCm39)	L127Q	probably damaging	Het
Prkd1	A	G	12: 50,536,694 (GRCm39)	V130A	possibly damaging	Het
Psd3	T	C	8: 68,417,003 (GRCm39)	D45G	probably damaging	Het
Ptpn13	A	G	5: 103,703,999 (GRCm39)	T1344A	probably benign	Het
Ptpn6	T	A	6: 124,701,947 (GRCm39)	H406L	probably benign	Het
Ric1	A	T	19: 29,510,652 (GRCm39)	S78C	probably damaging	Het
Ric1	G	A	19: 29,510,653 (GRCm39)	S78N	probably damaging	Het
Scgb1b2	G	T	7: 30,991,188 (GRCm39)		probably benign	Het
Senp7	A	G	16: 55,990,169 (GRCm39)	H639R	probably benign	Het
Sgtb	A	T	13: 104,260,767 (GRCm39)	D72V	probably damaging	Het
Slc44a5	T	C	3: 153,964,086 (GRCm39)	M484T	probably benign	Het
Slc5a1	A	G	5: 33,318,140 (GRCm39)	K598E	probably benign	Het
Slit3	T	A	11: 35,503,088 (GRCm39)		probably null	Het
Smc1b	T	C	15: 85,008,003 (GRCm39)	H258R	probably benign	Het
Smu1	T	C	4: 40,744,073 (GRCm39)	D318G	probably damaging	Het
Sned1	T	A	1: 93,199,406 (GRCm39)	F495L	probably damaging	Het
Svs3a	C	A	2: 164,131,804 (GRCm39)	S124Y	probably damaging	Het
Syngr4	A	G	7: 45,536,464 (GRCm39)	V186A	probably benign	Het
Tars3	G	A	7: 65,305,539 (GRCm39)	M254I	possibly damaging	Het
Tdpoz1	T	A	3: 93,578,143 (GRCm39)	R214*	probably null	Het
Tm2d3	A	G	7: 65,344,987 (GRCm39)	D54G	probably damaging	Het
Trim66	A	T	7: 109,074,320 (GRCm39)	I647N	probably damaging	Het
Triml2	T	A	8: 43,646,548 (GRCm39)	W346R	probably damaging	Het
Trp53bp1	A	T	2: 121,046,545 (GRCm39)	V1085D	probably benign	Het
Trpv2	T	C	11: 62,483,612 (GRCm39)	V483A	probably benign	Het
Ugp2	G	T	11: 21,278,949 (GRCm39)	N412K	probably benign	Het
Upf1	T	C	8: 70,792,004 (GRCm39)	D418G	probably null	Het
Vmn2r77	C	A	7: 86,461,152 (GRCm39)	P826Q	probably damaging	Het
Vrtn	T	C	12: 84,696,936 (GRCm39)	M562T	probably benign	Het
Wdr55	A	G	18: 36,895,419 (GRCm39)	N132S	possibly damaging	Het
Wipf2	A	T	11: 98,787,040 (GRCm39)	R356S	possibly damaging	Het
Zdhhc6	T	C	19: 55,287,228 (GRCm39)	K411E	probably benign	Het
Zfp260	A	G	7: 29,804,765 (GRCm39)	K222E	probably damaging	Het
Zfp280d	A	G	9: 72,220,011 (GRCm39)	N237S	probably damaging	Het
Zfp445	T	G	9: 122,682,547 (GRCm39)	S465R	possibly damaging	Het
Zfp821	A	G	8: 110,450,979 (GRCm39)	D324G	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
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

Predicted Primers

PCR Primer
(F):5'- GTGTGGACCGCAGAAATAGC -3'
(R):5'- AACCCAGCTTCCCATTTTGG -3'

Sequencing Primer
(F):5'- TGCAACCGAGCAGGCAG -3'
(R):5'- GGCCCTTCCTCGGTATCCAC -3'

Posted On

2014-10-01