Incidental Mutation 'R9405:Apobr'
ID 711462
Institutional Source Beutler Lab
Gene Symbol Apobr
Ensembl Gene ENSMUSG00000042759
Gene Name apolipoprotein B receptor
Synonyms Apob48r, Apob-48r
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R9405 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126184114-126188284 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126184704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 72 (S72G)
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

DomainStartEndE-ValueType
Pfam:CLN3 37 438 3.5e-215 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000039522
AA Change: S72G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000042028
Gene: ENSMUSG00000042759
AA Change: S72G

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 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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T A 9: 118,978,506 (GRCm39) Q277L probably damaging Het
Adamts18 A G 8: 114,430,030 (GRCm39) V1135A probably damaging Het
Arl13b T A 16: 62,632,260 (GRCm39) Q214L possibly damaging Het
Armt1 AC A 10: 4,400,848 (GRCm39) probably null Het
Asah2 T G 19: 31,986,045 (GRCm39) T542P possibly damaging Het
Asns C T 6: 7,689,283 (GRCm39) C73Y probably damaging Het
Calhm2 T A 19: 47,124,108 (GRCm39) T79S probably benign Het
Cd300c2 T G 11: 114,891,587 (GRCm39) T96P probably damaging Het
Copb1 G A 7: 113,822,458 (GRCm39) T757I possibly damaging Het
Csmd3 T A 15: 47,539,187 (GRCm39) T1517S Het
Ddx60 T A 8: 62,425,248 (GRCm39) L679M probably benign Het
Dip2b A G 15: 100,093,757 (GRCm39) K1123R probably benign Het
Dnah17 A G 11: 118,009,737 (GRCm39) S612P probably benign Het
Dnah5 T A 15: 28,272,306 (GRCm39) C1037S probably benign Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Ei24 A T 9: 36,694,137 (GRCm39) I244N possibly damaging Het
Epb41l4a C A 18: 33,943,271 (GRCm39) probably null Het
Fam83b A G 9: 76,398,703 (GRCm39) M800T possibly damaging Het
Fcf1 T G 12: 85,021,013 (GRCm39) C98G probably benign Het
H2bc3 T C 13: 23,931,141 (GRCm39) Y122H probably benign Het
Hltf G T 3: 20,137,094 (GRCm39) Q417H possibly damaging Het
Hmg20b T C 10: 81,185,258 (GRCm39) S35G probably benign Het
Igkv4-57-1 T G 6: 69,521,525 (GRCm39) Y59S probably damaging Het
Irs2 C T 8: 11,055,061 (GRCm39) V1124I possibly damaging Het
Kprp A G 3: 92,731,560 (GRCm39) C497R unknown Het
Krt15 A T 11: 100,022,961 (GRCm39) V418E probably benign Het
Lce1e G A 3: 92,615,312 (GRCm39) P12S unknown Het
Lsmem1 T C 12: 40,227,113 (GRCm39) D124G probably damaging Het
Morc3 T C 16: 93,642,036 (GRCm39) F85S probably damaging Het
Mtnr1b A T 9: 15,774,447 (GRCm39) V204E possibly damaging Het
Myo7b C T 18: 32,109,356 (GRCm39) A1172T probably benign Het
Nbeal1 T A 1: 60,349,424 (GRCm39) I2362N probably damaging Het
Nde1 T G 16: 14,006,255 (GRCm39) L261R probably damaging Het
Neurl1b A G 17: 26,658,265 (GRCm39) D401G probably benign Het
Nfkb2 T C 19: 46,296,839 (GRCm39) V303A probably damaging Het
Nlrc5 C T 8: 95,199,652 (GRCm39) P88S probably damaging Het
Or10ad1b T A 15: 98,124,912 (GRCm39) I207F possibly damaging Het
Or4k36 T A 2: 111,146,460 (GRCm39) I212K possibly damaging Het
Or6c203 T A 10: 129,010,165 (GRCm39) M242L probably benign Het
Pde1c T A 6: 56,049,199 (GRCm39) K705* probably null Het
Pear1 A T 3: 87,659,890 (GRCm39) F699I probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Prickle1 A T 15: 93,400,861 (GRCm39) L541* probably null Het
Prss39 G A 1: 34,538,344 (GRCm39) G70S probably damaging Het
Prune2 T G 19: 17,193,708 (GRCm39) N3065K probably damaging Het
Qrfprl T A 6: 65,433,078 (GRCm39) N299K probably benign Het
Rdh5 A C 10: 128,753,937 (GRCm39) D127E probably benign Het
Ryr3 G A 2: 112,664,612 (GRCm39) H1580Y probably damaging Het
Sash1 G A 10: 8,637,994 (GRCm39) probably benign Het
Scgb3a2 T A 18: 43,900,129 (GRCm39) L139Q possibly damaging Het
Six1 A G 12: 73,093,095 (GRCm39) S36P probably damaging Het
Slc30a5 T C 13: 100,950,416 (GRCm39) I281V probably benign Het
Snai2 T A 16: 14,524,589 (GRCm39) Y32N probably benign Het
Stat2 T C 10: 128,114,634 (GRCm39) S244P probably damaging Het
Syne1 A G 10: 5,152,030 (GRCm39) I5759T probably damaging Het
Tbc1d23 T C 16: 57,012,985 (GRCm39) N329S possibly damaging Het
Tex2 A T 11: 106,435,214 (GRCm39) S737R unknown Het
Trav13d-3 G A 14: 53,270,715 (GRCm39) R59H probably benign Het
Tspan9 C T 6: 127,944,124 (GRCm39) A59T probably benign Het
Usp53 G A 3: 122,746,918 (GRCm39) A349V probably damaging Het
Vmn1r188 T C 13: 22,272,898 (GRCm39) L284P probably damaging Het
Vmn2r85 T C 10: 130,261,215 (GRCm39) N374S probably damaging Het
Zfp622 A T 15: 25,985,035 (GRCm39) I134F probably damaging Het
Other mutations in Apobr
AlleleSourceChrCoordTypePredicted EffectPPH 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
R9063:Apobr UTSW 7 126,185,920 (GRCm39) missense probably benign 0.00
R9245:Apobr UTSW 7 126,186,507 (GRCm39) nonsense probably null
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'- AAGTGGTTAGACCTCCCCTGAG -3'
(R):5'- GGGCTGTATTACTGCTCCTG -3'

Sequencing Primer
(F):5'- TAGACCTCCCCTGAGTGCCTTC -3'
(R):5'- CTGTCTCTGTGAGTCCCAGG -3'
Posted On 2022-05-16