|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: 0.116)|
|Stock #||R6895 (G1)|
|Chromosomal Location||34649921-34678618 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 34677298 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 187 (I187F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000023530 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000023530] [ENSMUST00000148562]|
|Predicted Effect||possibly damaging
AA Change: I187F
PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: I187F
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
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'- TTACGGTTTTCTAGACCATTGCCAA -3'
(R):5'- TTTGTGCAGATGGCTCTCTC -3'
(F):5'- GCCAAAACTCTCAAGATAGTGTGTG -3'
(R):5'- ATGGCCTGTCAACAATGTGC -3'