Incidental Mutation 'R0722:Cd320'
ID 63580
Institutional Source Beutler Lab
Gene Symbol Cd320
Ensembl Gene ENSMUSG00000002308
Gene Name CD320 antigen
Synonyms 425O18-1, NG29, D17Ertd716e, VLDL, 8D6
MMRRC Submission 038904-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # R0722 (G1)
Quality Score 88
Status Validated
Chromosome 17
Chromosomal Location 34062065-34068748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34065004 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 46 (S46P)
Ref Sequence ENSEMBL: ENSMUSP00000002379 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002379] [ENSMUST00000087559]
AlphaFold Q9Z1P5
Predicted Effect possibly damaging
Transcript: ENSMUST00000002379
AA Change: S46P

PolyPhen 2 Score 0.648 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002379
Gene: ENSMUSG00000002308
AA Change: S46P

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: ENSMUST00000087559
AA Change: S32P

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000084839
Gene: ENSMUSG00000002308
AA Change: S32P

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 noncoding transcript
Transcript: ENSMUST00000173418
Meta Mutation Damage Score 0.2065 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.7%
Validation Efficiency 97% (63/65)
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
Adap2 T C 11: 80,047,810 (GRCm39) F89L possibly damaging Het
Akr1c13 A G 13: 4,247,931 (GRCm39) probably null Het
Atp10a A G 7: 58,465,931 (GRCm39) I1053V possibly damaging Het
Bmper G T 9: 23,285,224 (GRCm39) V258L probably benign Het
Brd4 T C 17: 32,431,956 (GRCm39) H636R possibly damaging Het
Cacna2d4 C T 6: 119,284,247 (GRCm39) R745W probably damaging Het
Ccbe1 C T 18: 66,217,877 (GRCm39) C112Y probably damaging Het
Ccdc28b T A 4: 129,514,945 (GRCm39) probably null Het
Cfap251 T A 5: 123,394,248 (GRCm39) V379E probably damaging Het
Cfap44 G A 16: 44,225,039 (GRCm39) E95K possibly damaging Het
Clpp T C 17: 57,299,901 (GRCm39) V144A probably damaging Het
Crtam A T 9: 40,903,912 (GRCm39) C96S probably damaging Het
Dcst1 C T 3: 89,261,112 (GRCm39) R480H probably benign Het
Dock2 A T 11: 34,414,970 (GRCm39) probably benign Het
Ermard A G 17: 15,242,390 (GRCm39) T189A probably benign Het
Gm10840 A G 11: 106,051,902 (GRCm39) probably benign Het
Gm4845 T A 1: 141,184,598 (GRCm39) noncoding transcript Het
Heatr1 A G 13: 12,420,918 (GRCm39) E403G probably benign Het
Herc4 A G 10: 63,121,844 (GRCm39) I399V probably null Het
Htr1f A G 16: 64,746,254 (GRCm39) I346T probably damaging Het
Igf2r T C 17: 12,934,382 (GRCm39) probably null Het
Jmy G A 13: 93,589,325 (GRCm39) T644I probably benign Het
Kcnn2 T C 18: 45,692,543 (GRCm39) C40R possibly damaging Het
Krt13 T G 11: 100,009,979 (GRCm39) K297T probably damaging Het
Lrba T C 3: 86,513,296 (GRCm39) probably null Het
Lrrc8b T C 5: 105,627,978 (GRCm39) V108A possibly damaging Het
Lrrc8c T A 5: 105,727,414 (GRCm39) V26E probably damaging Het
Or10g6 A G 9: 39,934,295 (GRCm39) D202G probably damaging Het
Or5p6 A G 7: 107,631,541 (GRCm39) F3S probably benign Het
Pcna A G 2: 132,093,155 (GRCm39) probably benign Het
Pgm2 A T 5: 64,265,022 (GRCm39) R348* probably null Het
Pikfyve T G 1: 65,292,682 (GRCm39) S1378A probably damaging Het
Pkp2 T C 16: 16,064,892 (GRCm39) V472A probably benign Het
Pld5 A G 1: 175,803,081 (GRCm39) F395L probably benign Het
Plekhb1 A T 7: 100,294,810 (GRCm39) Y169N probably damaging Het
Polr2c T A 8: 95,589,265 (GRCm39) Y186N probably damaging Het
Ppp1r16a C T 15: 76,577,869 (GRCm39) Q328* probably null Het
Prr5l A G 2: 101,547,819 (GRCm39) probably benign Het
Ptbp2 C T 3: 119,514,570 (GRCm39) R419Q possibly damaging Het
Ralgapa2 A G 2: 146,230,451 (GRCm39) V1038A probably damaging Het
Rassf2 A G 2: 131,844,830 (GRCm39) V204A probably damaging Het
Slc22a22 T C 15: 57,119,949 (GRCm39) probably null Het
Slit1 T C 19: 41,596,874 (GRCm39) Y1075C probably damaging Het
Smc5 C A 19: 23,186,291 (GRCm39) L1055F probably damaging Het
Spidr A G 16: 15,730,645 (GRCm39) F620S probably damaging Het
Susd1 A G 4: 59,379,749 (GRCm39) S293P possibly damaging Het
Tepsin A G 11: 119,986,163 (GRCm39) probably benign Het
Vmn2r68 A T 7: 84,870,794 (GRCm39) L830I possibly damaging Het
Vtn A G 11: 78,391,680 (GRCm39) probably benign Het
Zfp267 C T 3: 36,219,218 (GRCm39) H414Y probably benign Het
Zfp280d T G 9: 72,219,383 (GRCm39) S162A possibly damaging Het
Zfp608 T G 18: 55,033,306 (GRCm39) K409T probably damaging Het
Zfp738 A T 13: 67,819,643 (GRCm39) M116K probably benign Het
Other mutations in Cd320
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Cd320 APN 17 34,062,214 (GRCm39) unclassified probably benign
R0107:Cd320 UTSW 17 34,067,059 (GRCm39) missense probably benign
R1272:Cd320 UTSW 17 34,067,138 (GRCm39) missense possibly damaging 0.53
R1515:Cd320 UTSW 17 34,066,613 (GRCm39) missense probably damaging 1.00
R4062:Cd320 UTSW 17 34,066,491 (GRCm39) missense probably benign 0.08
R4663:Cd320 UTSW 17 34,067,152 (GRCm39) missense probably null 1.00
R4981:Cd320 UTSW 17 34,066,549 (GRCm39) missense probably benign 0.00
R5516:Cd320 UTSW 17 34,067,021 (GRCm39) missense possibly damaging 0.95
R6376:Cd320 UTSW 17 34,066,491 (GRCm39) missense probably benign 0.08
R6536:Cd320 UTSW 17 34,066,477 (GRCm39) missense probably benign 0.00
R6600:Cd320 UTSW 17 34,066,591 (GRCm39) missense probably damaging 1.00
R7417:Cd320 UTSW 17 34,066,530 (GRCm39) nonsense probably null
R9668:Cd320 UTSW 17 34,065,113 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGCCATTTGGAGCATTTGGAGC -3'
(R):5'- TGGCAGCAGTGTAAACACCCATC -3'

Sequencing Primer
(F):5'- agtcccgacttttgtcacc -3'
(R):5'- AGTGTAAACACCCATCCTCAAG -3'
Posted On 2013-07-30