Incidental Mutation 'IGL02311:Tcn2'
ID 287792
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tcn2
Ensembl Gene ENSMUSG00000020432
Gene Name transcobalamin 2
Synonyms Tcn-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02311
Quality Score
Status
Chromosome 11
Chromosomal Location 3867192-3882159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 3867692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 417 (P417S)
Ref Sequence ENSEMBL: ENSMUSP00000105620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020710] [ENSMUST00000051207] [ENSMUST00000109988] [ENSMUST00000109989] [ENSMUST00000109990] [ENSMUST00000109991] [ENSMUST00000109992] [ENSMUST00000109993] [ENSMUST00000109995]
AlphaFold O88968
Predicted Effect probably damaging
Transcript: ENSMUST00000020710
AA Change: P417S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
AA Change: P417S

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051207
SMART Domains Protein: ENSMUSP00000050978
Gene: ENSMUSG00000048807

DomainStartEndE-ValueType
Pfam:EamA 50 179 1.9e-9 PFAM
Pfam:UAA 68 332 2.1e-15 PFAM
Pfam:TPT 188 327 2.5e-19 PFAM
Pfam:EamA 200 326 1.6e-12 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109988
AA Change: P417S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
AA Change: P417S

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109989
AA Change: P417S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
AA Change: P417S

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109990
AA Change: P417S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
AA Change: P417S

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109991
AA Change: P417S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
AA Change: P417S

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 3 331 1.2e-118 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 429 9.3e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109992
AA Change: P417S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
AA Change: P417S

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109993
AA Change: P417S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
AA Change: P417S

DomainStartEndE-ValueType
Pfam:Cobalamin_bind 1 333 3.1e-138 PFAM
Pfam:SLBB 332 387 4.3e-7 PFAM
Pfam:DUF4430 355 426 7.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109995
SMART Domains Protein: ENSMUSP00000105622
Gene: ENSMUSG00000048807

DomainStartEndE-ValueType
Pfam:EamA 47 179 9.7e-7 PFAM
Pfam:TPT 47 327 6.1e-21 PFAM
Pfam:UAA 56 330 1.3e-7 PFAM
Pfam:EamA 187 327 2.6e-8 PFAM
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 a member of the vitamin B12-binding protein family. This family of proteins, alternatively referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: This locus controls transcobalamin-2 electrophoretic variation. The s allele determines a slow band in serum from A/J, C57BL/6, BALB/c and C3H/He; the f allele determines faster form in NZB, ST/b and CPB-WV. Heterozygotes have both forms. Sequencing reveals a Gly to Glu substitution in NZB compared to BALB/c, DBA/2 and C57BL/6 (Genbank AF090686). [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C A 5: 25,202,705 (GRCm39) probably benign Het
Adam21 T G 12: 81,607,666 (GRCm39) D32A probably benign Het
Asns A G 6: 7,676,233 (GRCm39) probably null Het
Bin3 A T 14: 70,361,666 (GRCm39) M45L probably benign Het
Cfap44 A T 16: 44,225,134 (GRCm39) probably benign Het
Cmya5 T C 13: 93,227,163 (GRCm39) T2642A probably benign Het
Dbndd2 T C 2: 164,330,622 (GRCm39) S92P possibly damaging Het
Dclre1b A C 3: 103,715,409 (GRCm39) F30V probably damaging Het
Dock6 T C 9: 21,755,624 (GRCm39) D200G probably damaging Het
Epb41l4b C A 4: 57,076,456 (GRCm39) R335L probably damaging Het
Fscn1 T C 5: 142,957,765 (GRCm39) V304A probably benign Het
Gm7008 G A 12: 40,273,385 (GRCm39) probably benign Het
Gm8237 A G 14: 5,864,425 (GRCm38) probably null Het
Ifih1 T C 2: 62,440,847 (GRCm39) T440A probably damaging Het
Mepe C T 5: 104,485,571 (GRCm39) S237F probably damaging Het
Nr4a2 T C 2: 57,001,743 (GRCm39) I174V probably benign Het
Or2ag2 A G 7: 106,485,101 (GRCm39) Y308H probably benign Het
Or8c11 C T 9: 38,289,194 (GRCm39) Q6* probably null Het
Orc1 G T 4: 108,457,171 (GRCm39) V404L probably benign Het
Pcsk5 G T 19: 17,410,784 (GRCm39) Y1869* probably null Het
Phf21b A G 15: 84,678,095 (GRCm39) probably null Het
Pigg A G 5: 108,484,246 (GRCm39) T631A probably benign Het
Plxnb1 A G 9: 108,930,190 (GRCm39) N349D probably benign Het
Scaf11 T C 15: 96,316,637 (GRCm39) S976G probably benign Het
Scn8a G T 15: 100,911,164 (GRCm39) M861I probably damaging Het
Stau1 T C 2: 166,792,239 (GRCm39) N433S probably damaging Het
Synrg A G 11: 83,910,630 (GRCm39) K854R probably benign Het
Tbata T A 10: 61,015,234 (GRCm39) C150* probably null Het
Tlr1 A T 5: 65,083,290 (GRCm39) L429* probably null Het
Tpr G T 1: 150,274,404 (GRCm39) D104Y probably damaging Het
Ubash3b T C 9: 40,958,333 (GRCm39) T16A probably benign Het
Uso1 T A 5: 92,335,635 (GRCm39) S548T probably benign Het
Vps13b T A 15: 35,709,660 (GRCm39) V1869E probably benign Het
Vps18 T C 2: 119,120,732 (GRCm39) C64R probably benign Het
Zic2 C A 14: 122,713,606 (GRCm39) N173K probably damaging Het
Other mutations in Tcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:Tcn2 APN 11 3,875,072 (GRCm39) missense probably benign
IGL02614:Tcn2 APN 11 3,876,158 (GRCm39) missense possibly damaging 0.91
IGL02655:Tcn2 APN 11 3,876,158 (GRCm39) missense possibly damaging 0.91
IGL02679:Tcn2 APN 11 3,877,504 (GRCm39) missense possibly damaging 0.93
IGL02752:Tcn2 APN 11 3,876,158 (GRCm39) missense possibly damaging 0.91
R0265:Tcn2 UTSW 11 3,872,044 (GRCm39) missense probably damaging 1.00
R0845:Tcn2 UTSW 11 3,869,349 (GRCm39) missense probably benign
R1255:Tcn2 UTSW 11 3,872,120 (GRCm39) missense probably benign 0.16
R1459:Tcn2 UTSW 11 3,877,516 (GRCm39) missense probably benign 0.01
R1696:Tcn2 UTSW 11 3,872,169 (GRCm39) missense probably damaging 1.00
R4209:Tcn2 UTSW 11 3,872,114 (GRCm39) missense possibly damaging 0.91
R4210:Tcn2 UTSW 11 3,872,114 (GRCm39) missense possibly damaging 0.91
R4211:Tcn2 UTSW 11 3,872,114 (GRCm39) missense possibly damaging 0.91
R5357:Tcn2 UTSW 11 3,876,017 (GRCm39) missense possibly damaging 0.91
R5973:Tcn2 UTSW 11 3,877,546 (GRCm39) nonsense probably null
R6973:Tcn2 UTSW 11 3,867,649 (GRCm39) makesense probably null
R7479:Tcn2 UTSW 11 3,867,703 (GRCm39) missense probably damaging 1.00
R8023:Tcn2 UTSW 11 3,877,579 (GRCm39) missense possibly damaging 0.95
R8854:Tcn2 UTSW 11 3,876,074 (GRCm39) missense possibly damaging 0.90
R8919:Tcn2 UTSW 11 3,873,569 (GRCm39) missense probably damaging 1.00
R9028:Tcn2 UTSW 11 3,872,111 (GRCm39) missense probably damaging 0.99
R9352:Tcn2 UTSW 11 3,873,446 (GRCm39) missense probably damaging 1.00
T0975:Tcn2 UTSW 11 3,873,487 (GRCm39) missense possibly damaging 0.79
Posted On 2015-04-16