|Institutional Source||Beutler Lab|
|Gene Name||neuregulin 2|
|Is this an essential gene?||Probably non essential (E-score: 0.178)|
|Stock #||R6968 (G1)|
|Chromosomal Location||36017707-36197380 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 36196446 bp|
|Amino Acid Change||Isoleucine to Valine at position 239 (I239V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000111378 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000115713]|
AA Change: I59V
|Predicted Effect||probably benign
AA Change: I239V
PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
AA Change: I239V
|Coding Region Coverage||
|Validation Efficiency||97% (57/59)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a novel member of the neuregulin family of growth and differentiation factors. Through interaction with the ERBB family of receptors, this protein induces the growth and differentiation of epithelial, neuronal, glial, and other types of cells. The gene consists of 12 exons and the genomic structure is similar to that of neuregulin 1, another member of the neuregulin family of ligands. The products of these genes mediate distinct biological processes by acting at different sites in tissues and eliciting different biological responses in cells. This gene is located close to the region for demyelinating Charcot-Marie-Tooth disease locus, but is not responsible for this disease. Alternative transcript variants encoding distinct isoforms have been described. [provided by RefSeq, May 2010]
PHENOTYPE: About one third of mice homozygous for a knock-out allele die prior to weaning in the absence of cardiac defects or other morphological abnormalities. Homozygotes display an early but transient postnatal growth deficit and reduced reproductive capacity. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nrg2||
(F):5'- ACACTTTGAGCCTGGTTCTCG -3'
(R):5'- AGGCGGTTCCAGCTCTAAC -3'
(F):5'- AGCCTGGTTCTCGTTCTTACCAAG -3'
(R):5'- AGGTGCTGGACAAGTGGCC -3'