Incidental Mutation 'R4249:Ropn1'
ID 320546
Institutional Source Beutler Lab
Gene Symbol Ropn1
Ensembl Gene ENSMUSG00000022832
Gene Name ropporin, rhophilin associated protein 1
Synonyms ODF6, 1700008N21Rik, ropporin, RHPNAP1
MMRRC Submission 041065-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R4249 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 34470291-34498988 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 34498826 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q9ESG2
Predicted Effect probably null
Transcript: ENSMUST00000023530
AA Change: Q205*
SMART Domains Protein: ENSMUSP00000023530
Gene: ENSMUSG00000022832
AA Change: Q205*

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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700062C07Rik A G 18: 24,606,013 (GRCm39) N36S possibly damaging Het
Ankrd39 A G 1: 36,586,236 (GRCm39) S11P probably benign Het
Aox1 A G 1: 58,338,978 (GRCm39) S324G probably benign Het
Atl3 T C 19: 7,509,703 (GRCm39) V477A probably benign Het
Bcar1 T C 8: 112,447,525 (GRCm39) T151A probably benign Het
Cdc42bpg A G 19: 6,365,296 (GRCm39) T718A possibly damaging Het
Col9a1 C T 1: 24,283,462 (GRCm39) R843C probably damaging Het
Dnah12 T A 14: 26,430,341 (GRCm39) D316E possibly damaging Het
Fat2 A G 11: 55,175,127 (GRCm39) V1862A probably damaging Het
Fbxw5 C A 2: 25,393,472 (GRCm39) N233K probably damaging Het
Fcer2a A G 8: 3,738,831 (GRCm39) F75L probably benign Het
Fhod3 A G 18: 25,123,123 (GRCm39) K271R probably null Het
Gimd1 T C 3: 132,350,169 (GRCm39) V144A possibly damaging Het
Glt1d1 T C 5: 127,768,176 (GRCm39) probably null Het
Hecw2 C T 1: 53,871,804 (GRCm39) V1381M probably damaging Het
Kansl1l C T 1: 66,812,637 (GRCm39) D459N probably damaging Het
Lmtk3 G A 7: 45,443,486 (GRCm39) C723Y possibly damaging Het
Muc4 T C 16: 32,576,200 (GRCm39) probably benign Het
Myom1 T A 17: 71,399,135 (GRCm39) V999E probably damaging Het
Nckap5 A G 1: 125,955,376 (GRCm39) L460P probably benign Het
Or12d17 T C 17: 37,777,715 (GRCm39) M206T probably damaging Het
Phf13 A T 4: 152,076,552 (GRCm39) N213K probably damaging Het
Phldb3 T C 7: 24,326,745 (GRCm39) I591T probably damaging Het
Pik3cb T C 9: 98,983,229 (GRCm39) probably null Het
Pkd1l1 C T 11: 8,815,543 (GRCm39) R1456K possibly damaging Het
Plekhh2 A G 17: 84,893,765 (GRCm39) E860G possibly damaging Het
Resf1 T A 6: 149,227,041 (GRCm39) M29K possibly damaging Het
Rest A G 5: 77,429,959 (GRCm39) T793A probably benign Het
Sacs A C 14: 61,440,906 (GRCm39) K984T probably benign Het
Samd11 G A 4: 156,334,943 (GRCm39) R102C probably damaging Het
Satl1 A G X: 111,316,033 (GRCm39) S141P probably benign Het
Shank1 C A 7: 43,969,160 (GRCm39) H352N unknown Het
Slc22a27 A T 19: 7,903,244 (GRCm39) I162K possibly damaging Het
Snx8 A G 5: 140,341,800 (GRCm39) L121P probably damaging Het
Sumf1 A C 6: 108,131,974 (GRCm39) V156G probably damaging Het
Tln1 A T 4: 43,536,104 (GRCm39) V2027E probably damaging Het
Trdn A G 10: 33,326,994 (GRCm39) I594M probably benign Het
Trim5 C G 7: 103,926,022 (GRCm39) E180Q possibly damaging Het
Tsen2 A G 6: 115,524,785 (GRCm39) probably benign Het
Tubb1 A T 2: 174,297,526 (GRCm39) E45V probably null Het
Vmn2r67 T A 7: 84,799,722 (GRCm39) probably null Het
Zcchc14 CTGATGGTGGTGGTGATGGTGGTGG CTGATGGTGGTGG 8: 122,331,031 (GRCm39) probably benign Het
Zfp160 T A 17: 21,246,000 (GRCm39) F183L probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- AGTTGACCTCTGACCTGCAC -3'
(R):5'- AATTCCACATGCTCCTGGC -3'

Sequencing Primer
(F):5'- GTGGATTTATGAATTCCAGGCCACC -3'
(R):5'- AATTCCACATGCTCCTGGCTAATTG -3'
Posted On 2015-06-12