Incidental Mutation 'IGL01962:Tcn2'
ID 182445
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 # IGL01962
Quality Score
Status
Chromosome 11
Chromosomal Location 3867192-3882159 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3875072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 153 (N153S)
Ref Sequence ENSEMBL: ENSMUSP00000105620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020710] [ENSMUST00000109988] [ENSMUST00000109989] [ENSMUST00000109990] [ENSMUST00000109991] [ENSMUST00000109992] [ENSMUST00000109993]
AlphaFold O88968
Predicted Effect probably benign
Transcript: ENSMUST00000020710
AA Change: N153S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
AA Change: N153S

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: ENSMUST00000109988
AA Change: N153S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
AA Change: N153S

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: ENSMUST00000109989
AA Change: N153S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
AA Change: N153S

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: ENSMUST00000109990
AA Change: N153S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
AA Change: N153S

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: ENSMUST00000109991
AA Change: N153S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
AA Change: N153S

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 benign
Transcript: ENSMUST00000109992
AA Change: N153S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
AA Change: N153S

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: ENSMUST00000109993
AA Change: N153S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
AA Change: N153S

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
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 T C 17: 31,324,514 (GRCm39) F253S probably benign Het
AI429214 T A 8: 37,461,383 (GRCm39) I177N probably damaging Het
Astn1 C A 1: 158,496,201 (GRCm39) T1077K probably damaging Het
Asxl3 A T 18: 22,655,502 (GRCm39) I1171L probably benign Het
Cdca2 A T 14: 67,943,172 (GRCm39) S206T probably damaging Het
Chd3 T C 11: 69,248,319 (GRCm39) M858V possibly damaging Het
Cyp2j12 C T 4: 95,987,999 (GRCm39) A464T probably benign Het
Fryl A T 5: 73,190,134 (GRCm39) D2787E possibly damaging Het
Hmx3 G A 7: 131,146,000 (GRCm39) R236H probably damaging Het
Il1rap T A 16: 26,529,318 (GRCm39) C330* probably null Het
Klrc1 A T 6: 129,655,865 (GRCm39) N3K probably damaging Het
Nars1 A G 18: 64,643,554 (GRCm39) F142L probably benign Het
Nipal1 A G 5: 72,825,401 (GRCm39) S365G possibly damaging Het
Or1n1 T A 2: 36,749,787 (GRCm39) H191L probably benign Het
Or2ag15 G A 7: 106,340,991 (GRCm39) T50I probably benign Het
Or51s1 T G 7: 102,559,054 (GRCm39) probably benign Het
Or8k17 C A 2: 86,066,456 (GRCm39) R234M probably damaging Het
Pcdhb4 A G 18: 37,442,057 (GRCm39) T456A possibly damaging Het
Pcdhb5 G A 18: 37,454,093 (GRCm39) D158N probably damaging Het
Pcsk2 C T 2: 143,655,552 (GRCm39) Q579* probably null Het
Phactr4 G A 4: 132,091,086 (GRCm39) R577W probably damaging Het
Rbms3 T C 9: 116,524,879 (GRCm39) probably benign Het
Rxfp1 T G 3: 79,594,175 (GRCm39) D73A probably damaging Het
Scmh1 A T 4: 120,340,781 (GRCm39) probably benign Het
Syk T G 13: 52,764,993 (GRCm39) L40R probably damaging Het
Tnks A G 8: 35,336,678 (GRCm39) L502P probably damaging Het
Vmn2r111 A G 17: 22,767,265 (GRCm39) V744A possibly damaging Het
Other mutations in Tcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02311:Tcn2 APN 11 3,867,692 (GRCm39) missense probably damaging 1.00
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 2014-05-07