|Institutional Source||Beutler Lab|
|Gene Name||follicle stimulating hormone receptor|
|Synonyms||FSH-R, Follitropin receptor, follicle-stimulating hormone receptor|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3928 (G1)|
|Chromosomal Location||88985170-89200612 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 88985534 bp|
|Amino Acid Change||Arginine to Histidine at position 572 (R572H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000040477 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035701]|
|Predicted Effect||probably damaging
AA Change: R572H
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: R572H
|Meta Mutation Damage Score||0.15|
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to family 1 of G-protein coupled receptors. It is the receptor for follicle stimulating hormone and functions in gonad development. Mutations in this gene cause ovarian dysgenesis type 1, and also ovarian hyperstimulation syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous null mutant females are sterile with small ovaries, blocked follicular development, atrophic uterus and imperforate vagina. Mutant males are fertile despite reduction in testis weight, oligozoospermia and reduced testosterone levels. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Fshr||
(F):5'- CAAACTTGCTCATCAGGACG -3'
(R):5'- ATGAAAGTGAGCATCTGCCTG -3'
(F):5'- CTTGCTCATCAGGACGAAGAAGTC -3'
(R):5'- TGCCCATGGATATCGACAGC -3'