|Institutional Source||Beutler Lab|
|Gene Name||vitamin D binding protein|
|Synonyms||DBP, vitamin D binding protein|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2067 (G1)|
|Chromosomal Location||89417522-89457898 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 89446517 bp|
|Amino Acid Change||Lysine to Asparagine at position 37 (K37N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000046636 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000049209]|
|Predicted Effect||probably damaging
AA Change: K37N
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: K37N
|Meta Mutation Damage Score||0.0264|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for disruption of this gene show an essentially normal phenotype. However, they have an increased sensitivity to vitamin D deficiency in the diet. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gc||
(F):5'- TATAGCTCAGCTGGCACCTCTG -3'
(R):5'- AGTGCCTTTACCACAGGTCATG -3'
(F):5'- AGCTGGCACCTCTGCTTAC -3'
(R):5'- CCACAGGTCATGTTGATATAAATAA -3'