Incidental Mutation 'IGL01634:Ropn1'
ID 93570
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: 0.101) question?
Stock # IGL01634
Quality Score
Status
Chromosome 16
Chromosomal Location 34470291-34498988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34487148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 28 (T28N)
Ref Sequence ENSEMBL: ENSMUSP00000122122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023530] [ENSMUST00000148562]
AlphaFold Q9ESG2
Predicted Effect probably benign
Transcript: ENSMUST00000023530
AA Change: T28N

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000023530
Gene: ENSMUSG00000022832
AA Change: T28N

DomainStartEndE-ValueType
PDB:2KYG|B 6 41 3e-6 PDB
SCOP:d1r2aa_ 10 44 5e-14 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000148562
AA Change: T28N

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000122122
Gene: ENSMUSG00000022832
AA Change: T28N

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A T 1: 191,633,016 (GRCm39) noncoding transcript Het
4933421I07Rik C T 7: 42,097,123 (GRCm39) D63N probably benign Het
Alg9 C A 9: 50,686,677 (GRCm39) probably null Het
Anln T C 9: 22,271,771 (GRCm39) T695A probably benign Het
Aox4 G T 1: 58,261,089 (GRCm39) D141Y possibly damaging Het
Arhgap21 C A 2: 20,919,455 (GRCm39) Q84H probably benign Het
Arnt G A 3: 95,377,709 (GRCm39) probably benign Het
Atp8a2 T A 14: 60,235,511 (GRCm39) Y677F probably benign Het
Car6 C T 4: 150,282,610 (GRCm39) V12M probably benign Het
Cd209d A T 8: 3,927,974 (GRCm39) probably null Het
Ctnna1 T A 18: 35,356,501 (GRCm39) V390E probably damaging Het
Cypt4 T A 9: 24,536,952 (GRCm39) N147K possibly damaging Het
Dnah10 C A 5: 124,898,405 (GRCm39) A3729E probably damaging Het
Dusp8 A G 7: 141,638,160 (GRCm39) V156A probably benign Het
Ecm1 G A 3: 95,642,211 (GRCm39) P458L probably damaging Het
Fat3 T G 9: 15,909,654 (GRCm39) Y2116S probably damaging Het
Fscn3 T A 6: 28,430,537 (GRCm39) Y236N probably damaging Het
Gaa G A 11: 119,164,902 (GRCm39) S265N possibly damaging Het
Gas7 T C 11: 67,565,057 (GRCm39) probably benign Het
Gbp8 T C 5: 105,166,438 (GRCm39) K297R probably damaging Het
Gm1818 G A 12: 48,602,992 (GRCm39) noncoding transcript Het
Gm5114 G T 7: 39,058,071 (GRCm39) T516K probably benign Het
Hectd1 A G 12: 51,850,562 (GRCm39) S165P probably damaging Het
Hoxb4 G T 11: 96,209,726 (GRCm39) R44L probably damaging Het
Ivd G A 2: 118,706,863 (GRCm39) R285H probably damaging Het
Krtap20-2 T C 16: 89,002,977 (GRCm39) F59S unknown Het
Megf8 G A 7: 25,058,206 (GRCm39) probably benign Het
Mgat4d A T 8: 84,094,745 (GRCm39) M261L possibly damaging Het
Mlc1 A T 15: 88,858,921 (GRCm39) probably benign Het
Mmp20 T A 9: 7,635,149 (GRCm39) Y43* probably null Het
Morc3 G A 16: 93,670,125 (GRCm39) V767I probably benign Het
Myo15a A G 11: 60,386,298 (GRCm39) T1808A probably damaging Het
Notch4 T C 17: 34,791,562 (GRCm39) F574L probably damaging Het
Npas3 G A 12: 53,993,946 (GRCm39) V164M probably damaging Het
Nptx1 A G 11: 119,435,498 (GRCm39) Y273H probably damaging Het
Oaf T C 9: 43,135,301 (GRCm39) N159S probably damaging Het
Or10a3n A T 7: 108,493,292 (GRCm39) F107L probably benign Het
Or4c111 T A 2: 88,843,788 (GRCm39) I207F probably damaging Het
Or5ak24 A T 2: 85,260,783 (GRCm39) L130H probably damaging Het
Pgm2 T C 5: 64,258,317 (GRCm39) F101L probably benign Het
Pkd1l3 A C 8: 110,394,157 (GRCm39) probably null Het
Plcd1 C T 9: 118,902,857 (GRCm39) R527H probably damaging Het
Rexo2 C T 9: 48,380,215 (GRCm39) E206K probably damaging Het
Rpgrip1l C A 8: 91,979,171 (GRCm39) S998I probably benign Het
Rpgrip1l T A 8: 91,979,172 (GRCm39) S998C probably benign Het
Scap T C 9: 110,207,857 (GRCm39) probably null Het
Sec23b T C 2: 144,401,150 (GRCm39) Y4H probably damaging Het
Sfrp4 C A 13: 19,807,800 (GRCm39) D66E possibly damaging Het
Slc25a36 T C 9: 96,962,534 (GRCm39) T13A probably benign Het
Synpr A T 14: 13,608,576 (GRCm38) I119F possibly damaging Het
Tamm41 A C 6: 114,993,059 (GRCm39) H109Q probably benign Het
Tet1 A T 10: 62,714,367 (GRCm39) I476K possibly damaging Het
Tg A T 15: 66,601,415 (GRCm39) I142F probably benign Het
Thada A T 17: 84,700,786 (GRCm39) probably null Het
Triobp T C 15: 78,877,568 (GRCm39) L1654P probably damaging Het
Trpm7 A G 2: 126,668,738 (GRCm39) V726A probably damaging Het
Txndc15 T G 13: 55,869,438 (GRCm39) V197G probably damaging Het
Ubr3 A T 2: 69,803,916 (GRCm39) T1169S probably benign Het
Uhmk1 C T 1: 170,034,682 (GRCm39) probably null Het
Vmn2r16 T A 5: 109,488,177 (GRCm39) M350K probably benign Het
Vmn2r77 G A 7: 86,460,857 (GRCm39) V728I probably benign Het
Wipf1 G A 2: 73,278,225 (GRCm39) P7S unknown Het
Zswim3 A G 2: 164,661,922 (GRCm39) D134G probably damaging 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
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 2013-12-09