Incidental Mutation 'IGL02312:Ropn1'
ID 287845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ropn1
Ensembl Gene ENSMUSG00000022832
Gene Name ropporin, rhophilin associated protein 1
Synonyms ODF6, 1700008N21Rik, ropporin, RHPNAP1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL02312
Quality Score
Status
Chromosome 16
Chromosomal Location 34470291-34498988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34497647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 180 (V180I)
Ref Sequence ENSEMBL: ENSMUSP00000023530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023530] [ENSMUST00000148562]
AlphaFold Q9ESG2
Predicted Effect probably benign
Transcript: ENSMUST00000023530
AA Change: V180I

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000023530
Gene: ENSMUSG00000022832
AA Change: V180I

DomainStartEndE-ValueType
PDB:2KYG|B 6 41 3e-6 PDB
SCOP:d1r2aa_ 10 44 5e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148562
SMART Domains Protein: ENSMUSP00000122122
Gene: ENSMUSG00000022832

DomainStartEndE-ValueType
Pfam:RIIa 12 43 2.9e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231612
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,060,369 (GRCm39) V454E probably damaging Het
Atp7b G T 8: 22,484,786 (GRCm39) Q1424K probably damaging Het
Bicra T C 7: 15,727,066 (GRCm39) D30G possibly damaging Het
Cdhr2 A G 13: 54,865,701 (GRCm39) D233G probably null Het
Clint1 C T 11: 45,784,883 (GRCm39) T294M probably damaging Het
Cntnap5c C T 17: 58,445,694 (GRCm39) T578I probably benign Het
Col12a1 G T 9: 79,588,797 (GRCm39) T1106N probably damaging Het
Csta3 A G 16: 36,030,847 (GRCm39) probably benign Het
Dnah10 A G 5: 124,896,430 (GRCm39) Y3598C probably damaging Het
Dnaja3 A G 16: 4,512,300 (GRCm39) T235A probably benign Het
Eif2s1 T C 12: 78,926,790 (GRCm39) I180T probably damaging Het
Ergic1 C A 17: 26,848,601 (GRCm39) P108Q probably damaging Het
Fat2 T A 11: 55,161,085 (GRCm39) D3215V probably damaging Het
Galnt17 A T 5: 131,335,371 (GRCm39) I23N probably benign Het
Gpr20 C T 15: 73,568,275 (GRCm39) R38Q probably benign Het
Grin2b T C 6: 135,716,088 (GRCm39) D743G probably damaging Het
H2-T5 T C 17: 36,476,299 (GRCm39) I350V probably benign Het
Hmbs A G 9: 44,252,510 (GRCm39) probably null Het
Hunk T C 16: 90,272,829 (GRCm39) Y302H probably damaging Het
Mybph A T 1: 134,125,188 (GRCm39) I239F probably damaging Het
Ncoa3 G A 2: 165,899,120 (GRCm39) A821T probably benign Het
Nf1 A G 11: 79,335,474 (GRCm39) I979V possibly damaging Het
Or5w14 T C 2: 87,541,353 (GRCm39) E299G probably benign Het
Or7h8 A T 9: 20,124,377 (GRCm39) H244L probably damaging Het
Pdilt G A 7: 119,118,890 (GRCm39) T53M probably benign Het
Pdlim1 T C 19: 40,211,505 (GRCm39) T263A probably benign Het
Pik3cg A T 12: 32,244,820 (GRCm39) M878K possibly damaging Het
Plod1 T C 4: 148,010,614 (GRCm39) K279R probably benign Het
Plxna4 T C 6: 32,142,052 (GRCm39) T1602A possibly damaging Het
Rb1cc1 T A 1: 6,335,847 (GRCm39) probably null Het
Rnls G A 19: 33,145,783 (GRCm39) T112I probably benign Het
Rptor T C 11: 119,737,741 (GRCm39) Y605H possibly damaging Het
Sidt2 T C 9: 45,858,299 (GRCm39) Y80C probably benign Het
Slit1 A T 19: 41,590,119 (GRCm39) V1389E possibly damaging Het
Spz1 G A 13: 92,712,393 (GRCm39) P28S probably benign Het
Sult1c2 T A 17: 54,269,458 (GRCm39) M257L probably benign Het
Tent2 C T 13: 93,312,041 (GRCm39) V220I probably benign Het
Tm2d3 T C 7: 65,348,917 (GRCm39) probably null Het
Uqcr10 T C 11: 4,654,153 (GRCm39) probably null Het
Other mutations in Ropn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Ropn1 APN 16 34,498,790 (GRCm39) missense probably damaging 1.00
IGL01487:Ropn1 APN 16 34,498,839 (GRCm39) missense probably damaging 1.00
IGL01610:Ropn1 APN 16 34,487,141 (GRCm39) missense probably damaging 1.00
IGL01634:Ropn1 APN 16 34,487,141 (GRCm39) missense probably damaging 1.00
IGL01634:Ropn1 APN 16 34,487,148 (GRCm39) missense possibly damaging 0.95
IGL02125:Ropn1 APN 16 34,487,147 (GRCm39) missense probably benign 0.32
R0411:Ropn1 UTSW 16 34,490,334 (GRCm39) missense probably benign 0.19
R4249:Ropn1 UTSW 16 34,498,826 (GRCm39) nonsense probably null
R4680:Ropn1 UTSW 16 34,497,675 (GRCm39) missense possibly damaging 0.56
R5078:Ropn1 UTSW 16 34,487,161 (GRCm39) missense probably damaging 1.00
R5440:Ropn1 UTSW 16 34,491,542 (GRCm39) missense probably benign 0.00
R5441:Ropn1 UTSW 16 34,487,167 (GRCm39) missense probably damaging 0.99
R6895:Ropn1 UTSW 16 34,497,668 (GRCm39) missense possibly damaging 0.82
Posted On 2015-04-16