Incidental Mutation 'R1142:Apobr'
ID102161
Institutional Source Beutler Lab
Gene Symbol Apobr
Ensembl Gene ENSMUSG00000042759
Gene Nameapolipoprotein B receptor
SynonymsApob-48r, Apob48r
MMRRC Submission 039215-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.070) question?
Stock #R1142 (G1)
Quality Score225
Status Not validated
Chromosome7
Chromosomal Location126584942-126589112 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 126587482 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 722 (M722V)
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]
Predicted Effect probably benign
Transcript: ENSMUST00000032962
SMART Domains Protein: ENSMUSP00000032962
Gene: ENSMUSG00000030720

DomainStartEndE-ValueType
Pfam:CLN3 37 438 3.5e-215 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000039522
AA Change: M722V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: M722V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:CLN3 37 438 3.5e-215 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098036
SMART Domains Protein: ENSMUSP00000095644
Gene: ENSMUSG00000030720

DomainStartEndE-ValueType
Pfam:CLN3 37 414 4.3e-191 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116269
SMART Domains Protein: ENSMUSP00000111973
Gene: ENSMUSG00000030720

DomainStartEndE-ValueType
Pfam:CLN3 39 437 1.6e-140 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125508
SMART Domains Protein: ENSMUSP00000117561
Gene: ENSMUSG00000030720

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:CLN3 37 196 1.2e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134406
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134498
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

DomainStartEndE-ValueType
Pfam:CLN3 37 69 1.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150587
SMART Domains Protein: ENSMUSP00000118054
Gene: ENSMUSG00000030720

DomainStartEndE-ValueType
Pfam:CLN3 37 70 4.1e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000150917
SMART Domains Protein: ENSMUSP00000138688
Gene: ENSMUSG00000030720

DomainStartEndE-ValueType
Pfam:CLN3 37 77 1.6e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153790
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 A G 19: 40,551,213 S773P probably damaging Het
Alx3 T C 3: 107,600,664 F163S possibly damaging Het
Col6a5 A G 9: 105,934,317 S668P unknown Het
Cxadr A G 16: 78,334,839 T238A probably benign Het
Dph6 A G 2: 114,647,779 I27T probably damaging Het
Ephx3 G A 17: 32,185,274 H324Y probably benign Het
F830045P16Rik T A 2: 129,460,332 K447* probably null Het
Gjb3 G A 4: 127,326,431 R103W probably damaging Het
Hsp90ab1 C A 17: 45,568,974 E539* probably null Het
Jmjd1c T C 10: 67,225,345 L1159P probably damaging Het
Lamc3 T C 2: 31,940,721 I1490T probably damaging Het
Met T A 6: 17,527,183 C544* probably null Het
Pdlim3 C A 8: 45,918,961 R348S probably damaging Het
Phkg1 A G 5: 129,873,232 F101L possibly damaging Het
Polq A G 16: 37,013,217 M91V probably damaging Het
Slc38a9 T C 13: 112,714,210 I376T probably damaging Het
Tnc C T 4: 64,013,994 V728M probably damaging Het
Vmn1r85 T C 7: 13,084,554 N221S probably benign Het
Vmn2r91 T A 17: 18,136,443 W791R probably damaging Het
Zc3h13 T C 14: 75,315,984 Y284H probably benign Het
Other mutations in Apobr
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 intron 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
R5296:Apobr UTSW 7 126588024 missense probably damaging 0.96
R5579:Apobr UTSW 7 126587675 missense probably benign 0.00
Z1088:Apobr UTSW 7 126585031 missense probably benign 0.00
Z1176:Apobr UTSW 7 126587264 missense probably damaging 0.98
Predicted Primers
Posted On2014-01-15