Mutagenetix > Incidental Mutation

Incidental Mutation 'R4210:Tcn2'

319141

Institutional Source

Beutler Lab

Gene Symbol

Tcn2

Ensembl Gene

ENSMUSG00000020432

Gene Name

transcobalamin 2

Synonyms

Tcn-2

MMRRC Submission

041039-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R4210 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3867192-3882159 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3872114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 338 (K338E)

Ref Sequence

ENSEMBL: ENSMUSP00000105620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020710] [ENSMUST00000109988] [ENSMUST00000109989] [ENSMUST00000109990] [ENSMUST00000109991] [ENSMUST00000109992] [ENSMUST00000109993]

AlphaFold

O88968

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020710
AA Change: K338E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000020710
Gene: ENSMUSG00000020432
AA Change: K338E

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000109988
AA Change: K338E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105615
Gene: ENSMUSG00000020432
AA Change: K338E

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000109989
AA Change: K338E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105616
Gene: ENSMUSG00000020432
AA Change: K338E

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000109990
AA Change: K338E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105617
Gene: ENSMUSG00000020432
AA Change: K338E

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000109991
AA Change: K338E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105618
Gene: ENSMUSG00000020432
AA Change: K338E

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000109992
AA Change: K338E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105619
Gene: ENSMUSG00000020432
AA Change: K338E

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000109993
AA Change: K338E

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105620
Gene: ENSMUSG00000020432
AA Change: K338E

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	T	2: 68,490,222 (GRCm39)		probably benign	Het
Abl1	T	C	2: 31,691,708 (GRCm39)	Y1076H	probably damaging	Het
Adamts7	C	T	9: 90,076,063 (GRCm39)	T1265I	possibly damaging	Het
Adgb	T	C	10: 10,283,209 (GRCm39)	I166V	probably benign	Het
Axin2	T	A	11: 108,833,402 (GRCm39)	I529N	possibly damaging	Het
Bbof1	T	C	12: 84,455,957 (GRCm39)	M1T	probably null	Het
Clcc1	A	T	3: 108,570,907 (GRCm39)	Y105F	possibly damaging	Het
Cmpk2	G	T	12: 26,519,570 (GRCm39)	A74S	probably benign	Het
Colgalt1	G	A	8: 72,075,350 (GRCm39)	V419I	probably benign	Het
Crybg3	A	G	16: 59,364,414 (GRCm39)	S2403P	probably damaging	Het
D930048N14Rik	G	A	11: 51,545,632 (GRCm39)		probably benign	Het
Dnah7b	T	A	1: 46,176,578 (GRCm39)	C733S	possibly damaging	Het
Drc1	G	A	5: 30,504,490 (GRCm39)	V211M	possibly damaging	Het
Ephx2	T	C	14: 66,322,393 (GRCm39)	T525A	probably damaging	Het
Eya4	A	G	10: 23,102,698 (GRCm39)		probably null	Het
Foxc1	T	C	13: 31,991,690 (GRCm39)	F167S	probably damaging	Het
Fsip2	C	T	2: 82,805,493 (GRCm39)	T604I	probably damaging	Het
Gm6370	C	A	5: 146,430,734 (GRCm39)	F306L	possibly damaging	Het
Hmgcr	A	G	13: 96,796,729 (GRCm39)	V187A	probably damaging	Het
Igkv9-129	T	A	6: 67,817,242 (GRCm39)	S114R	possibly damaging	Het
Ikbke	T	A	1: 131,191,085 (GRCm39)	I519F	probably damaging	Het
Ikzf3	T	C	11: 98,381,313 (GRCm39)	Y89C	probably benign	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Iqsec3	T	C	6: 121,389,999 (GRCm39)		probably benign	Het
Itga3	C	A	11: 94,953,449 (GRCm39)	V298L	probably benign	Het
Kel	C	T	6: 41,675,359 (GRCm39)	W297*	probably null	Het
Larp7	T	A	3: 127,340,603 (GRCm39)	R112S	probably benign	Het
Lbh	T	A	17: 73,228,178 (GRCm39)		probably null	Het
Lrba	G	A	3: 86,267,433 (GRCm39)	G1708S	probably damaging	Het
Lrig2	C	T	3: 104,374,620 (GRCm39)	V154I	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mast4	A	T	13: 102,875,713 (GRCm39)	F1318L	probably damaging	Het
Ncam2	T	C	16: 81,323,991 (GRCm39)	V545A	probably benign	Het
Numa1	T	G	7: 101,658,945 (GRCm39)	L356R	probably damaging	Het
Or2w1	A	T	13: 21,317,607 (GRCm39)	I221L	possibly damaging	Het
Or6n2	G	A	1: 173,897,574 (GRCm39)	A237T	probably damaging	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Pdlim4	T	G	11: 53,946,744 (GRCm39)	D181A	possibly damaging	Het
Phtf1	G	A	3: 103,910,919 (GRCm39)		probably null	Het
Pik3r4	G	A	9: 105,527,957 (GRCm39)	A437T	possibly damaging	Het
Proser3	G	A	7: 30,245,525 (GRCm39)		probably benign	Het
Rax	T	A	18: 66,068,152 (GRCm39)	N318Y	unknown	Het
Rnf152	A	G	1: 105,212,077 (GRCm39)	V160A	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Sidt2	T	C	9: 45,854,073 (GRCm39)	T652A	probably benign	Het
Slc12a7	A	G	13: 73,962,962 (GRCm39)	Y1054C	probably damaging	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Sspo	C	A	6: 48,441,835 (GRCm39)	H1948Q	probably benign	Het
Stap2	G	T	17: 56,304,827 (GRCm39)	Y318*	probably null	Het
Sytl1	T	C	4: 132,980,876 (GRCm39)	D421G	probably damaging	Het
Taar7e	A	T	10: 23,913,932 (GRCm39)	I141F	probably damaging	Het
Taar7f	T	A	10: 23,925,921 (GRCm39)	W172R	probably damaging	Het
Tenm3	C	T	8: 48,802,439 (GRCm39)	G374D	probably damaging	Het
Terf2	A	G	8: 107,806,080 (GRCm39)	S291P	probably damaging	Het
Tex16	T	A	X: 111,030,640 (GRCm39)	D1046E	probably benign	Het
Tmod4	A	G	3: 95,035,140 (GRCm39)	D215G	probably benign	Het
Tnxb	T	C	17: 34,929,951 (GRCm39)	I2895T	possibly damaging	Het
Tsbp1	G	T	17: 34,679,257 (GRCm39)		probably benign	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Uxs1	T	A	1: 43,789,398 (GRCm39)	H419L	possibly damaging	Het
Vmn1r152	A	T	7: 22,223,004 (GRCm39)	T205S	possibly damaging	Het
Vmn1r79	A	G	7: 11,910,415 (GRCm39)	Y99C	possibly damaging	Het
Zc3h14	A	G	12: 98,751,658 (GRCm39)	H199R	probably damaging	Het
Zfand2b	A	T	1: 75,146,454 (GRCm39)	M110L	probably benign	Het
Zfp976	A	G	7: 42,265,749 (GRCm39)	F12S	probably damaging	Het

Other mutations in Tcn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- CATGATACCATTTCAAGCACGGAG -3'
(R):5'- AGATGAGACCCGGGTTTCAG -3'

Sequencing Primer
(F):5'- ATTTCAAGCACGGAGGCCTG -3'
(R):5'- CTGAGCTATTTCGAGGGAAGGCC -3'

Posted On

2015-06-10