Incidental Mutation 'IGL02002:Cd320'
ID183094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cd320
Ensembl Gene ENSMUSG00000002308
Gene NameCD320 antigen
SynonymsVLDL, NG29, D17Ertd716e, 8D6, 425O18-1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.188) question?
Stock #IGL02002
Quality Score
Status
Chromosome17
Chromosomal Location33843091-33849774 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to G at 33843240 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002379] [ENSMUST00000048249] [ENSMUST00000087559] [ENSMUST00000173132]
Predicted Effect unknown
Transcript: ENSMUST00000002379
AA Change: T24A
SMART Domains Protein: ENSMUSP00000002379
Gene: ENSMUSG00000002308
AA Change: T24A

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
LDLa 46 84 1.16e-14 SMART
LDLa 123 161 4.24e-8 SMART
transmembrane domain 207 229 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048249
SMART Domains Protein: ENSMUSP00000039692
Gene: ENSMUSG00000041881

DomainStartEndE-ValueType
Pfam:CI-B14_5a 5 102 2.1e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087559
SMART Domains Protein: ENSMUSP00000084839
Gene: ENSMUSG00000002308

DomainStartEndE-ValueType
signal peptide 1 30 N/A INTRINSIC
LDLa 32 70 1.16e-14 SMART
LDLa 109 147 4.24e-8 SMART
transmembrane domain 193 215 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173132
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173418
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174847
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the transcobalamin receptor that is expressed at the cell surface. It mediates the cellular uptake of transcobalamin bound cobalamin (vitamin B12), and is involved in B-cell proliferation and immunoglobulin secretion. Mutations in this gene are associated with methylmalonic aciduria. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
PHENOTYPE: The homozygous mutant and heterozygous mice exhibited an increased mean retinal artery-to-vein ratio when compared with controls. Mice homozygous for a gene trap knock-out allele exhibit vitamin B12 deficiency in the central nervous system. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik A T 7: 28,152,796 Y1248F probably damaging Het
Abcg5 G T 17: 84,682,051 Y76* probably null Het
Acadsb T A 7: 131,428,529 V135E probably damaging Het
Acap1 A G 11: 69,884,460 Y326H probably damaging Het
Actl11 T A 9: 107,929,330 V284D probably benign Het
Adcy10 G T 1: 165,521,843 D428Y probably damaging Het
Akap8 A G 17: 32,309,496 C481R probably damaging Het
Amotl2 G A 9: 102,725,117 A26T probably damaging Het
Apob T C 12: 7,994,822 V814A probably benign Het
Casp8ap2 T A 4: 32,639,391 N148K probably damaging Het
Ccdc149 G A 5: 52,406,079 T124M probably damaging Het
Clca4b T C 3: 144,932,433 T23A probably benign Het
Col22a1 A G 15: 71,811,097 probably benign Het
Col24a1 T A 3: 145,356,944 F675I possibly damaging Het
Col6a3 A G 1: 90,782,136 probably benign Het
Dap3 A T 3: 88,936,228 M19K probably benign Het
Dsg2 A G 18: 20,579,176 D123G probably damaging Het
Dysf T A 6: 84,210,787 probably benign Het
Erbb4 A G 1: 68,080,726 S853P probably damaging Het
Fbn2 A G 18: 58,114,553 M423T probably benign Het
Fgfr1 T C 8: 25,555,711 Y112H probably damaging Het
Gbp7 G A 3: 142,538,900 A203T probably damaging Het
Gon4l C T 3: 88,895,336 P1085S possibly damaging Het
Gsdma2 T C 11: 98,650,974 F176L probably damaging Het
Haghl A G 17: 25,784,265 F131S probably damaging Het
Hmcn1 G A 1: 150,615,298 P4167S probably damaging Het
Hscb T C 5: 110,830,954 N199D probably benign Het
Lmbr1l T A 15: 98,904,785 N428Y probably damaging Het
Mc2r T A 18: 68,407,434 M263L probably benign Het
Metap1 T A 3: 138,462,389 T325S probably damaging Het
Mff A G 1: 82,741,975 R225G probably damaging Het
Naprt A T 15: 75,891,372 L474Q probably damaging Het
Nin A T 12: 70,062,699 Y155* probably null Het
Nrg3 A T 14: 38,370,767 C612* probably null Het
Olfr170 T C 16: 19,606,550 I39M possibly damaging Het
Olfr472 A T 7: 107,903,290 D191V possibly damaging Het
Olfr781 T A 10: 129,333,127 I82K probably damaging Het
Pdilt A T 7: 119,500,444 F200L probably damaging Het
Ppard T G 17: 28,298,903 F315C probably damaging Het
Ror1 T A 4: 100,441,184 S585T probably damaging Het
Spdye4a T A 5: 143,225,705 I35F possibly damaging Het
Tenm2 T C 11: 36,207,095 K442R probably benign Het
Tln2 A G 9: 67,356,698 I553T probably damaging Het
Tmem269 T A 4: 119,214,141 I26F probably benign Het
Tsen2 T C 6: 115,559,607 V108A probably benign Het
Ttyh3 A T 5: 140,629,483 D383E probably damaging Het
Usp13 T C 3: 32,847,825 S102P probably damaging Het
Vmn2r118 T G 17: 55,592,619 S762R probably damaging Het
Washc4 A G 10: 83,579,543 N799S possibly damaging Het
Zcchc6 A G 13: 59,782,096 S1042P possibly damaging Het
Zdhhc17 C T 10: 110,967,689 V256I probably benign Het
Zfp51 T A 17: 21,463,959 F279I probably damaging Het
Zzz3 A G 3: 152,451,369 T223A probably damaging Het
Other mutations in Cd320
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0107:Cd320 UTSW 17 33848085 missense probably benign
R0722:Cd320 UTSW 17 33846030 missense possibly damaging 0.65
R1272:Cd320 UTSW 17 33848164 missense possibly damaging 0.53
R1515:Cd320 UTSW 17 33847639 missense probably damaging 1.00
R4062:Cd320 UTSW 17 33847517 missense probably benign 0.08
R4663:Cd320 UTSW 17 33848178 missense probably null 1.00
R4981:Cd320 UTSW 17 33847575 missense probably benign 0.00
R5516:Cd320 UTSW 17 33848047 missense possibly damaging 0.95
R6376:Cd320 UTSW 17 33847517 missense probably benign 0.08
R6536:Cd320 UTSW 17 33847503 missense probably benign 0.00
R6600:Cd320 UTSW 17 33847617 missense probably damaging 1.00
R7417:Cd320 UTSW 17 33847556 nonsense probably null
Posted On2014-05-07