|Institutional Source||Beutler Lab|
|Gene Name||oxytocin receptor|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5821 (G1)|
|Chromosomal Location||112473683-112489943 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 112489496 bp|
|Amino Acid Change||Isoleucine to Threonine at position 101 (I101T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000051132 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000053306] [ENSMUST00000204027]|
|Predicted Effect||probably damaging
AA Change: I101T
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: I101T
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8777|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
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 G-protein coupled receptor family and acts as a receptor for oxytocin. Its activity is mediated by G proteins which activate a phosphatidylinositol-calcium second messenger system. The oxytocin-oxytocin receptor system plays an important role in the uterus during parturition. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null females fail to lactate and exhibit decreased maternal behavior. Males exhibit an increase in aggression, hypoactivity and vocalization in response to social isolation, and social amnesia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Oxtr||
(F):5'- AGCGAGAAAATGTGCACCTG -3'
(R):5'- CGGTCCTGTGTCTCATACTG -3'
(F):5'- AAATGTGCACCTGCGGCAC -3'
(R):5'- CATACTGTTCCTGGCTCTGAGTG -3'