Incidental Mutation 'IGL02373:Apobr'
ID290994
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apobr
Ensembl Gene ENSMUSG00000042759
Gene Nameapolipoprotein B receptor
SynonymsApob-48r, Apob48r
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02373
Quality Score
Status
Chromosome7
Chromosomal Location126584942-126589112 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 126585391 bp
ZygosityHeterozygous
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] [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 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

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 possibly damaging
Transcript: ENSMUST00000131860
AA Change: F25I

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 C T 4: 86,249,805 L462F probably damaging Het
Adgrv1 T C 13: 81,459,713 D4080G possibly damaging Het
Apc A C 18: 34,316,159 D2002A probably damaging Het
Cyp4a10 T A 4: 115,521,077 L120* probably null Het
Daam2 A G 17: 49,473,380 S704P probably damaging Het
Dcst1 G T 3: 89,357,891 N217K probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fmn1 C A 2: 113,364,126 P57Q unknown Het
Galnt1 G A 18: 24,280,035 G464D possibly damaging Het
Ggcx T A 6: 72,427,919 W437R probably damaging Het
Gm11487 T C 4: 73,403,643 M52V probably benign Het
Igkv13-54-1 T C 6: 69,617,320 noncoding transcript Het
Iglon5 T C 7: 43,479,219 E58G probably benign Het
Met C T 6: 17,491,529 P97S probably damaging Het
Myg1 T A 15: 102,336,833 M158K probably damaging Het
Ncald T A 15: 37,372,209 M131L probably benign Het
Nipa2 T C 7: 55,933,128 I290V probably benign Het
Olfr1307 C A 2: 111,944,833 V208L probably benign Het
Olfr507 A T 7: 108,622,103 Y97F probably benign Het
Olfr818 A G 10: 129,945,465 L84S probably benign Het
Ppfia3 C T 7: 45,358,849 R48Q probably damaging Het
Rab12 A G 17: 66,498,065 L156P probably damaging Het
Slc28a3 C T 13: 58,578,404 probably null Het
Slc4a11 T C 2: 130,684,898 N770S probably benign Het
Tanc1 T C 2: 59,796,028 probably null Het
Vmn2r-ps130 A T 17: 23,076,892 R679* probably null Het
Vwa5b2 G A 16: 20,604,844 R1169H probably damaging Het
Other mutations in Apobr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01812:Apobr APN 7 126587922 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 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
Posted On2015-04-16