|Institutional Source||Beutler Lab|
|Gene Name||luteinizing hormone/choriogonadotropin receptor|
|Synonyms||Lhr, LH-R, Gpcr19-rs1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6477 (G1)|
|Chromosomal Location||88741549-88791976 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 88742373 bp|
|Amino Acid Change||Methionine to Lysine at position 575 (M575K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024916 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024916]|
|Predicted Effect||probably damaging
AA Change: M575K
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: M575K
|Meta Mutation Damage Score||0.6740|
|Coding Region Coverage||
|Validation Efficiency||97% (60/62)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the receptor for both luteinizing hormone and choriogonadotropin. This receptor belongs to the G-protein coupled receptor 1 family, and its activity is mediated by G proteins which activate adenylate cyclase. Mutations in this gene result in disorders of male secondary sexual character development, including familial male precocious puberty, also known as testotoxicosis, hypogonadotropic hypogonadism, Leydig cell adenoma with precocious puberty, and male pseudohermaphtoditism with Leydig cell hypoplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are infertile and have abnormal hormone levels. Males have undescended testes, immature external and accessory sex organs and blocked spermatogenesis. Females have small ovaries and uteri, immature follicles and do not cycle. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Lhcgr||
(F):5'- AATGCCTTCGTGAACACTGC -3'
(R):5'- TACCCTGATGGCCACATTGC -3'
(F):5'- CGTACAGAAATGGGTTGGCAC -3'
(R):5'- GTTACATGAAAGTCAGCATCTGCCTC -3'