|Institutional Source||Beutler Lab|
|Gene Name||low density lipoprotein receptor-related protein 4|
|Is this an essential gene?||Possibly essential (E-score: 0.619)|
|Stock #||R1029 (G1)|
|Chromosomal Location||91457511-91513779 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 91487027 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000028689 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028689]|
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1336|
|Coding Region Coverage||
|Validation Efficiency||92% (36/39)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygous mutations of this gene cause polysyndactyly. Additional phenotypes may include growth retardation, abnormal incisor development, kidney agenesis, and neonatal lethality associated with respiratory failure. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lrp4||
(F):5'- AAGGAGTGAAACTAACCACAGCCTTG -3'
(R):5'- GCCAGAGAGGAGACAGTGATTTCTCG -3'
(F):5'- ACTAACCACAGCCTTGAATTTTC -3'
(R):5'- GACAGTGATTTCTCGCGCTC -3'