Incidental Mutation 'R6973:Tcn2'
ID 543718
Institutional Source Beutler Lab
Gene Symbol Tcn2
Ensembl Gene ENSMUSG00000020432
Gene Name transcobalamin 2
Synonyms Tcn-2
MMRRC Submission 045083-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R6973 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 3867192-3882159 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 3867649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 431 (*431W)
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 null
Transcript: ENSMUST00000020710
AA Change: *431W
SMART Domains Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
AA Change: *431W

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 null
Transcript: ENSMUST00000109988
AA Change: *431W
SMART Domains Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
AA Change: *431W

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 null
Transcript: ENSMUST00000109989
AA Change: *431W
SMART Domains Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
AA Change: *431W

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 null
Transcript: ENSMUST00000109990
AA Change: *431W
SMART Domains Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
AA Change: *431W

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 null
Transcript: ENSMUST00000109991
AA Change: *431W
SMART Domains Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
AA Change: *431W

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 null
Transcript: ENSMUST00000109992
AA Change: *431W
SMART Domains Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
AA Change: *431W

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 null
Transcript: ENSMUST00000109993
AA Change: *431W
SMART Domains Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
AA Change: *431W

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (37/39)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 T C 4: 144,182,760 (GRCm39) Y236C probably benign Het
Adamts12 T A 15: 11,331,866 (GRCm39) C1461* probably null Het
Akap9 A G 5: 4,096,699 (GRCm39) N2525D possibly damaging Het
Atp6v1c1 A G 15: 38,690,794 (GRCm39) N315S probably damaging Het
B3gnt7 G A 1: 86,233,109 (GRCm39) M1I probably null Het
C2cd4d G T 3: 94,271,130 (GRCm39) R132L probably damaging Het
Cd244a A G 1: 171,401,775 (GRCm39) Y167C probably damaging Het
Chd4 A G 6: 125,099,825 (GRCm39) N1666D possibly damaging Het
Cubn A G 2: 13,386,648 (GRCm39) I1539T possibly damaging Het
Dcdc2a A T 13: 25,304,372 (GRCm39) probably benign Het
Dgka C T 10: 128,565,463 (GRCm39) probably null Het
Ephb4 T G 5: 137,368,066 (GRCm39) V737G probably damaging Het
Etv2 T C 7: 30,334,167 (GRCm39) N189D probably benign Het
Exoc4 G T 6: 33,556,965 (GRCm39) C490F probably damaging Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gpbp1l1 A G 4: 116,438,479 (GRCm39) M192V possibly damaging Het
Ireb2 A G 9: 54,789,671 (GRCm39) K115R probably benign Het
Mybpc1 T C 10: 88,396,223 (GRCm39) E208G possibly damaging Het
Nfic C A 10: 81,256,191 (GRCm39) A158S probably benign Het
Nos3 A T 5: 24,585,241 (GRCm39) I798L probably benign Het
Ntrk1 A T 3: 87,691,288 (GRCm39) L292Q probably damaging Het
Or52h7 G A 7: 104,214,183 (GRCm39) V252I probably benign Het
Or8u3-ps C T 2: 85,953,198 (GRCm39) T310I probably benign Het
Pcdhb2 G C 18: 37,429,416 (GRCm39) R463P probably benign Het
Pcdhgb6 A T 18: 37,875,526 (GRCm39) D78V possibly damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Prelid3b C A 2: 174,311,155 (GRCm39) W59L probably benign Het
Prex2 T G 1: 11,182,967 (GRCm39) S405R probably damaging Het
Rp1 G A 1: 4,422,217 (GRCm39) Q248* probably null Het
Rspo4 T A 2: 151,709,735 (GRCm39) C47S probably damaging Het
Ryr3 C A 2: 112,596,656 (GRCm39) M2499I probably damaging Het
Smarca5 A G 8: 81,431,380 (GRCm39) Y946H probably damaging Het
Spata31d1e A G 13: 59,890,521 (GRCm39) I433T probably benign Het
Tert A G 13: 73,776,107 (GRCm39) E286G probably benign Het
Tnni3 A G 7: 4,521,416 (GRCm39) I196T possibly damaging Het
Unc79 T C 12: 102,964,699 (GRCm39) I49T possibly damaging Het
Zfp687 A G 3: 94,916,688 (GRCm39) S813P possibly damaging Het
Znfx1 T A 2: 166,898,681 (GRCm39) H81L probably benign Het
Other mutations in Tcn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01962:Tcn2 APN 11 3,875,072 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TCATGAAAGACCTGTGGGATCAG -3'
(R):5'- ACCAAGCCTCGTTCTGACTC -3'

Sequencing Primer
(F):5'- CTGTGGGATCAGGCAGGG -3'
(R):5'- AAGCCTCGTTCTGACTCTCTGG -3'
Posted On 2019-05-13