Incidental Mutation 'R0107:Cd320'
ID 33349
Institutional Source Beutler Lab
Gene Symbol Cd320
Ensembl Gene ENSMUSG00000002308
Gene Name CD320 antigen
Synonyms 425O18-1, NG29, D17Ertd716e, VLDL, 8D6
MMRRC Submission 038393-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.109) question?
Stock # R0107 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 17
Chromosomal Location 34062065-34068748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34067059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 169 (M169L)
Ref Sequence ENSEMBL: ENSMUSP00000084839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002379] [ENSMUST00000087559]
AlphaFold Q9Z1P5
Predicted Effect probably benign
Transcript: ENSMUST00000002379
AA Change: M183L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002379
Gene: ENSMUSG00000002308
AA Change: M183L

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: M169L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084839
Gene: ENSMUSG00000002308
AA Change: M169L

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.6%
Validation Efficiency 99% (71/72)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,737 (GRCm39) L397I possibly damaging Het
Abca1 A G 4: 53,080,834 (GRCm39) V825A probably benign Het
Adamts7 T C 9: 90,062,773 (GRCm39) I409T possibly damaging Het
Adck1 T C 12: 88,413,426 (GRCm39) W253R possibly damaging Het
Afg3l2 A G 18: 67,564,836 (GRCm39) F213L probably damaging Het
Ankle2 T C 5: 110,400,893 (GRCm39) V743A probably benign Het
Ankrd34c C T 9: 89,611,537 (GRCm39) R268H probably benign Het
Arb2a A G 13: 78,050,933 (GRCm39) D145G probably damaging Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Ccdc7b T G 8: 129,904,678 (GRCm39) probably benign Het
Chn1 A G 2: 73,445,028 (GRCm39) Y338H probably damaging Het
Chuk T A 19: 44,085,358 (GRCm39) S263C probably damaging Het
Dennd4b C A 3: 90,180,043 (GRCm39) P663T possibly damaging Het
Dnajc24 T G 2: 105,832,259 (GRCm39) probably benign Het
Fbn2 A G 18: 58,189,275 (GRCm39) V1617A probably benign Het
Fermt2 T C 14: 45,702,279 (GRCm39) N502D probably damaging Het
Frrs1 A T 3: 116,690,365 (GRCm39) I3F probably damaging Het
Fut1 C A 7: 45,268,270 (GRCm39) Q20K possibly damaging Het
Gbf1 T C 19: 46,273,267 (GRCm39) V1709A probably benign Het
Gfra3 G T 18: 34,844,359 (GRCm39) H60Q probably benign Het
Gm10750 T A 2: 148,857,973 (GRCm39) M93L unknown Het
Hmcn1 T A 1: 150,462,766 (GRCm39) I5124L probably benign Het
Hps3 A C 3: 20,084,960 (GRCm39) L76R probably damaging Het
Ifrd1 T A 12: 40,264,080 (GRCm39) Q105L probably damaging Het
Irs2 A T 8: 11,054,691 (GRCm39) V1247E probably damaging Het
Itgal T C 7: 126,927,731 (GRCm39) probably benign Het
Ivns1abp A T 1: 151,237,321 (GRCm39) N495I probably damaging Het
Kank1 T A 19: 25,407,730 (GRCm39) probably benign Het
Mroh8 T C 2: 157,067,388 (GRCm39) Q657R probably benign Het
Mthfd1l T C 10: 3,991,838 (GRCm39) Y597H probably benign Het
Myom1 G A 17: 71,384,360 (GRCm39) V692I probably damaging Het
Or13a17 A T 7: 140,271,258 (GRCm39) M147L probably benign Het
Or1j18 T G 2: 36,624,730 (GRCm39) Y132* probably null Het
Or7g20 A G 9: 18,946,629 (GRCm39) D70G probably damaging Het
Palmd A T 3: 116,717,725 (GRCm39) H257Q probably damaging Het
Pcnx2 A T 8: 126,480,325 (GRCm39) V1994D probably benign Het
Phkb G A 8: 86,743,560 (GRCm39) G553S probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Ptprn A T 1: 75,232,356 (GRCm39) L453M probably damaging Het
Ptprz1 T A 6: 23,000,569 (GRCm39) D886E probably damaging Het
Rcn1 T A 2: 105,225,126 (GRCm39) I110F possibly damaging Het
Scn1a T A 2: 66,154,977 (GRCm39) T661S probably benign Het
Slc6a19 A G 13: 73,832,176 (GRCm39) Y467H possibly damaging Het
Slc9c1 T A 16: 45,395,783 (GRCm39) D611E probably benign Het
Slitrk6 T C 14: 110,989,395 (GRCm39) E104G possibly damaging Het
Spag17 A T 3: 99,958,103 (GRCm39) K920N possibly damaging Het
St3gal5 A G 6: 72,119,133 (GRCm39) S82G probably benign Het
Tlk1 T C 2: 70,544,333 (GRCm39) *767W probably null Het
Tln2 A G 9: 67,277,988 (GRCm39) V342A probably damaging Het
Tmem104 T A 11: 115,093,006 (GRCm39) M132K probably damaging Het
Tmem184c A G 8: 78,323,702 (GRCm39) S387P possibly damaging Het
Tmtc1 A G 6: 148,327,411 (GRCm39) V34A possibly damaging Het
Trim46 A G 3: 89,143,640 (GRCm39) F596S probably damaging Het
Unc79 T A 12: 103,100,784 (GRCm39) D1870E possibly damaging Het
Utp20 T C 10: 88,614,253 (GRCm39) T1234A probably benign Het
Vmn1r31 T A 6: 58,449,728 (GRCm39) T46S probably benign Het
Vps13a A T 19: 16,669,188 (GRCm39) L1341Q probably benign Het
Wdr72 A T 9: 74,117,715 (GRCm39) D821V probably damaging Het
Zfhx4 T C 3: 5,464,042 (GRCm39) L1400P probably damaging Het
Zfp217 T A 2: 169,956,794 (GRCm39) K735* probably null Het
Zfp235 A G 7: 23,836,541 (GRCm39) Q29R probably damaging Het
Zfp628 A G 7: 4,923,167 (GRCm39) Y463C probably damaging Het
Zkscan4 A G 13: 21,668,751 (GRCm39) T401A possibly damaging Het
Other mutations in Cd320
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02002:Cd320 APN 17 34,062,214 (GRCm39) unclassified probably benign
R0722:Cd320 UTSW 17 34,065,004 (GRCm39) missense possibly damaging 0.65
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'- TTGGGCACTGGAAACCTTGTGTACC -3'
(R):5'- TTCCTTTCTGACAGCAGCAGCGAC -3'

Sequencing Primer
(F):5'- TGTGTACCAGACTGCTAAGC -3'
(R):5'- CCTCGGAGGCGTAGCAATATG -3'
Posted On 2013-05-09