|Institutional Source||Beutler Lab|
|Gene Name||wingless-type MMTV integration site family, member 2|
|Synonyms||m-irp, Irp, 2610510E18Rik, Int1l1, Mirp, Wnt2a, Wnt-2|
|Is this an essential gene?||Possibly essential (E-score: 0.539)|
|Stock #||R6670 (G1)|
|Chromosomal Location||17988940-18030585 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 18028092 bp|
|Amino Acid Change||Valine to Leucine at position 48 (V48L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000010941 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000010941]|
|Predicted Effect||possibly damaging
AA Change: V48L
PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
AA Change: V48L
|Meta Mutation Damage Score||0.1212|
|Coding Region Coverage||
|Validation Efficiency||100% (38/38)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit impaired placental vascularization, runting and 50% perinatal mortality resulting from difficulties in breathing and nursing. Survivors of the perinatal period tend to recover, and adults are healthy and fertile. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Wnt2||
(F):5'- CTTTGAGTACAGGTGCAGGGAG -3'
(R):5'- CCTGCCTTTTAATGTTACCAGGG -3'
(F):5'- CCAGGAGAAGGAGACTCACTTC -3'
(R):5'- GTTACCAGGGAATAAGCAATTCATCC -3'