|Institutional Source||Beutler Lab|
|Gene Name||cubilin (intrinsic factor-cobalamin receptor)|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7329 (G1)|
|Chromosomal Location||13276338-13491813 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 13468771 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 454 (F454L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000089009 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000091436]|
|Predicted Effect||probably damaging
AA Change: F454L
PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
AA Change: F454L
|Meta Mutation Damage Score||0.3542|
|Coding Region Coverage||
|Validation Efficiency||100% (78/78)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, yolk sac and allantoic vasculature defects, embryonic and visceral endoderm defects, and lack somites. Heterozygotes display incomplete penetrance of premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cubn||
(F):5'- GAAAGGCAAATTCCTCAGTATATGG -3'
(R):5'- CTGTCCACTTGATTTGTAGTATGGC -3'
(F):5'- AGGAGAAATCTACTTGTCAGTGTG -3'
(R):5'- GGCATTTTCTTTTCATCTTAGGAAAC -3'