Incidental Mutation 'IGL01487:Ropn1'
ID 88777
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 # IGL01487
Quality Score
Status
Chromosome 16
Chromosomal Location 34470291-34498988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34498839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 209 (V209A)
Ref Sequence ENSEMBL: ENSMUSP00000023530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023530] [ENSMUST00000148562]
AlphaFold Q9ESG2
Predicted Effect probably damaging
Transcript: ENSMUST00000023530
AA Change: V209A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023530
Gene: ENSMUSG00000022832
AA Change: V209A

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A G 6: 88,816,431 (GRCm39) V121A probably damaging Het
Carf A G 1: 60,148,538 (GRCm39) H17R probably damaging Het
Col5a2 T C 1: 45,415,899 (GRCm39) N1416S probably benign Het
Ctsm C A 13: 61,686,883 (GRCm39) R3L probably benign Het
Dnah3 G A 7: 119,564,753 (GRCm39) Q2626* probably null Het
Dpp3 C T 19: 4,963,920 (GRCm39) V587I probably benign Het
Fank1 A G 7: 133,481,638 (GRCm39) T245A probably damaging Het
Golga5 A G 12: 102,461,955 (GRCm39) probably benign Het
Hoxb9 C T 11: 96,165,614 (GRCm39) Q228* probably null Het
Invs A G 4: 48,398,136 (GRCm39) I441V probably benign Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Psd3 T C 8: 68,149,766 (GRCm39) E1243G probably benign Het
Rapgefl1 C T 11: 98,737,961 (GRCm39) H392Y probably damaging Het
Scap G A 9: 110,206,802 (GRCm39) probably null Het
Scn5a A G 9: 119,391,689 (GRCm39) M1T probably null Het
Serpinb11 A T 1: 107,307,568 (GRCm39) Y333F probably benign Het
Sf3b3 A G 8: 111,544,292 (GRCm39) Y783H probably benign Het
Slc4a4 A G 5: 89,376,715 (GRCm39) M990V probably benign Het
Syt3 G T 7: 44,040,423 (GRCm39) V219F possibly damaging Het
Tmtc4 A G 14: 123,163,443 (GRCm39) L647S probably benign Het
Other mutations in Ropn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00655:Ropn1 APN 16 34,498,790 (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
IGL02312:Ropn1 APN 16 34,497,647 (GRCm39) missense probably benign 0.01
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 2013-11-18