|Institutional Source||Beutler Lab|
|Gene Name||ropporin, rhophilin associated protein 1|
|Synonyms||RHPNAP1, ropporin, ODF6, 1700008N21Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.136)|
|Stock #||R4249 (G1)|
|Chromosomal Location||34649921-34678618 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||C to T at 34678456 bp|
|Amino Acid Change||Glutamine to Stop codon at position 205 (Q205*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023530 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023530] [ENSMUST00000148562]|
|Predicted Effect||probably null
AA Change: Q205*
AA Change: Q205*
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the fibrous sheath of spermatazoa, where it interacts with rhophilin, a Rho GTPase binding protein. The encoded protein also can bind an A-kinase anchoring protein (AKAP110) and a calcium-binding tyrosine phosphorylation-regulated protein (CABYR). This protein may be involved in sperm motility and has been shown to be a cancer-testis antigen in hematologic malignancies. Several transcript variants, some protein-coding and some non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced sperm motility and reduced male fertility. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ropn1||
(F):5'- AGTTGACCTCTGACCTGCAC -3'
(R):5'- AATTCCACATGCTCCTGGC -3'
(F):5'- GTGGATTTATGAATTCCAGGCCACC -3'
(R):5'- AATTCCACATGCTCCTGGCTAATTG -3'