|Institutional Source||Beutler Lab|
|Gene Name||polycystin (PKD) family receptor for egg jelly|
|Is this an essential gene?||Probably non essential (E-score: 0.082)|
|Stock #||R0004 (G1)|
|Chromosomal Location||85814670-85821734 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 85818183 bp|
|Amino Acid Change||Histidine to Leucine at position 1184 (H1184L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000086352 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064370]|
|Predicted Effect||probably damaging
AA Change: H1184L
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: H1184L
|Meta Mutation Damage Score||0.9554|
|Coding Region Coverage||
|Validation Efficiency||98% (63/64)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a member of the polycystin protein family. The encoded protein contains 11 transmembrane domains, a receptor for egg jelly (REJ) domain, a G-protein-coupled receptor proteolytic site (GPS) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. This protein may play a role in human reproduction. Alternative splice variants have been described but their biological natures have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null males are fertile in unrestricted mating trials but show lower reproductive success in sequential mating and artificial insemination trials. Although mutant sperm are able to capacitate in vitro, they acquire exocytotic competence at a slower rate than wild-type sperm. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pkdrej||
(F):5'- TCCGGGTTGGTGACAGAAAACG -3'
(R):5'- GCACACCCACTTTGTGACTGCTAAG -3'
(F):5'- GTGACAGAAAACGTTGCATCC -3'
(R):5'- AAGGTAATTGTGGTCCCTAACCC -3'