Mutagenetix > Incidental Mutation

Incidental Mutation 'R5296:Apobr'

405417

Institutional Source

Beutler Lab

Gene Symbol

Apobr

Ensembl Gene

ENSMUSG00000042759

Gene Name

apolipoprotein B receptor

Synonyms

Apob-48r, Apob48r

MMRRC Submission

042879-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R5296 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126584942-126589112 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 126588024 bp (GRCm38)

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] [ENSMUST00000128970] [ENSMUST00000144173] [ENSMUST00000137646] [ENSMUST00000138558] [ENSMUST00000131860] [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

noncoding transcript
Transcript: ENSMUST00000128049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128225

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 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: ENSMUST00000134246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153790

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

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: 145,862,968		probably benign	Het
Cacna1s	G	A	1: 136,095,785	V674M	probably benign	Het
Cavin2	T	C	1: 51,289,870		probably null	Het
Cd300lb	T	C	11: 114,924,937	S106G	possibly damaging	Het
Ceacam15	A	G	7: 16,673,196	V132A	probably benign	Het
Ddi2	G	T	4: 141,684,765	Q279K	probably benign	Het
Dnah11	A	G	12: 117,883,416	V4304A	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Epsti1	T	A	14: 77,904,650	H55Q	probably benign	Het
Flad1	T	C	3: 89,411,196	T17A	probably damaging	Het
Fzd2	C	T	11: 102,606,155	T475M	probably damaging	Het
Gemin5	C	A	11: 58,130,061	W1099L	probably damaging	Het
Gm8979	A	T	7: 106,081,848		noncoding transcript	Het
Gm9892	T	C	8: 52,196,929		noncoding transcript	Het
Gmeb2	A	G	2: 181,255,986		probably benign	Het
Grip1	A	G	10: 119,929,928	E55G	probably damaging	Het
Hltf	T	C	3: 20,108,112	S825P	probably damaging	Het
Kcnh3	A	T	15: 99,241,939	Q902L	probably null	Het
Kcnt2	C	T	1: 140,609,615	P1037L	probably damaging	Het
Klhl18	G	C	9: 110,436,127	N335K	possibly damaging	Het
Lama5	A	C	2: 180,193,801	L1253R	probably damaging	Het
Lancl2	T	G	6: 57,724,582	S230A	probably benign	Het
Lmcd1	A	G	6: 112,315,588	M134V	probably damaging	Het
Lrrc23	C	A	6: 124,774,482	A205S	probably damaging	Het
Mfsd13b	T	A	7: 120,991,738	I234N	probably damaging	Het
Mroh3	A	G	1: 136,196,323	S386P	probably damaging	Het
Mylk3	A	C	8: 85,355,431	F313V	possibly damaging	Het
Myo9b	A	T	8: 71,333,388	Q643L	possibly damaging	Het
Nacad	T	C	11: 6,605,745	S2G	unknown	Het
Olfr1269	A	T	2: 90,118,699	W300R	probably damaging	Het
Olfr136	C	T	17: 38,335,456	Q100*	probably null	Het
Olfr419	G	T	1: 174,250,756	T57K	possibly damaging	Het
Olfr908	T	C	9: 38,516,116	F28S	probably damaging	Het
Pkd1	T	C	17: 24,576,074	V2245A	probably damaging	Het
Pkdrej	G	A	15: 85,817,118	T1539I	possibly damaging	Het
Plch2	G	T	4: 154,989,999		probably null	Het
Pygm	G	A	19: 6,384,579	R34H	probably damaging	Het
Rgs12	T	C	5: 35,021,104		probably benign	Het
Ruvbl1	T	C	6: 88,485,908	I338T	probably damaging	Het
Sapcd1	T	A	17: 35,026,731	Q104L	probably damaging	Het
Satb2	T	C	1: 56,796,907	E575G	probably damaging	Het
Sema6b	T	A	17: 56,127,091		probably null	Het
Slc25a11	T	C	11: 70,646,185	N15D	probably damaging	Het
Slc26a6	C	T	9: 108,860,646	T526M	probably damaging	Het
Tcaf3	G	T	6: 42,587,510	T906K	possibly damaging	Het
Thbd	A	T	2: 148,406,983	C322S	probably damaging	Het
Traf2	A	G	2: 25,520,440	L399P	probably damaging	Het
Troap	T	A	15: 99,078,817	V274D	probably damaging	Het
Utrn	G	A	10: 12,401,355	T3406M	probably damaging	Het
Uts2	G	T	4: 150,999,051	A40S	possibly damaging	Het
Vmn2r109	T	A	17: 20,554,341	I251F	possibly damaging	Het
Vmn2r67	A	G	7: 85,137,022	S592P	probably damaging	Het
Vps13b	T	G	15: 35,876,413	W2797G	probably damaging	Het
Ythdf1	A	T	2: 180,912,188	M51K	probably damaging	Het
Zfp60	T	A	7: 27,738,530		probably benign	Het
Zfp882	T	A	8: 71,914,360	F344I	probably damaging	Het

Other mutations in Apobr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01812:Apobr	APN	7	126587922	missense	probably damaging	1.00
IGL02373:Apobr	APN	7	126585391	missense	probably damaging	1.00
IGL02383:Apobr	APN	7	126586607	missense	probably benign	0.35
R0626:Apobr	UTSW	7	126586655	missense	possibly damaging	0.73
R1142:Apobr	UTSW	7	126587482	missense	probably benign	0.01
R1672:Apobr	UTSW	7	126587551	missense	probably benign	0.31
R1711:Apobr	UTSW	7	126584979	start gained	probably null
R1865:Apobr	UTSW	7	126585968	missense	probably benign	0.00
R1971:Apobr	UTSW	7	126586225	missense	probably benign	0.00
R1985:Apobr	UTSW	7	126587731	missense	possibly damaging	0.66
R2130:Apobr	UTSW	7	126587206	missense	probably benign	0.15
R2143:Apobr	UTSW	7	126587116	missense	probably benign	0.01
R4497:Apobr	UTSW	7	126587522	splice site	probably null
R4693:Apobr	UTSW	7	126586847	missense	probably damaging	0.96
R4797:Apobr	UTSW	7	126587584	missense	probably benign	0.30
R4814:Apobr	UTSW	7	126586687	missense	probably benign	0.03
R5000:Apobr	UTSW	7	126586557	missense	possibly damaging	0.53
R5153:Apobr	UTSW	7	126587732	missense	possibly damaging	0.92
R5176:Apobr	UTSW	7	126585016	missense	probably damaging	1.00
R5285:Apobr	UTSW	7	126585003	unclassified	probably benign
R5579:Apobr	UTSW	7	126587675	missense	probably benign	0.00
R9025:Apobr	UTSW	7	126586457	missense	possibly damaging	0.94
R9063:Apobr	UTSW	7	126586748	missense	probably benign	0.00
R9245:Apobr	UTSW	7	126587335	nonsense	probably null
R9405:Apobr	UTSW	7	126585532	missense	possibly damaging	0.95
R9444:Apobr	UTSW	7	126585968	missense	probably benign	0.00
R9688:Apobr	UTSW	7	126587491	missense	probably benign	0.08
Z1088:Apobr	UTSW	7	126585031	missense	probably benign	0.00
Z1176:Apobr	UTSW	7	126587264	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