Incidental Mutation 'IGL00341:Ropn1l'
ID 4109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ropn1l
Ensembl Gene ENSMUSG00000022236
Gene Name ropporin 1-like
Synonyms AKAP-associated sperm protein, ASP
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00341
Quality Score
Status
Chromosome 15
Chromosomal Location 31441356-31453835 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 31443495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 179 (D179V)
Ref Sequence ENSEMBL: ENSMUSP00000106038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110408]
AlphaFold Q9EQ00
Predicted Effect noncoding transcript
Transcript: ENSMUST00000091031
Predicted Effect probably damaging
Transcript: ENSMUST00000110408
AA Change: D179V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106038
Gene: ENSMUSG00000022236
AA Change: D179V

DomainStartEndE-ValueType
SCOP:d1r2aa_ 13 49 7e-15 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ropporin family. The encoded protein is present in sperm and interacts with A-kinase anchoring protein, AKAP3, through the amphipathic helix region of AKAP3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit reduced respiratory motile cilia motility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 T A 6: 43,257,203 (GRCm39) Y519* probably null Het
Bahcc1 A G 11: 120,163,130 (GRCm39) Y476C probably damaging Het
Bclaf1 A T 10: 20,201,745 (GRCm39) E295D probably damaging Het
Bend3 A G 10: 43,387,539 (GRCm39) D644G probably damaging Het
Ccdc122 G A 14: 77,329,179 (GRCm39) M77I probably benign Het
Ccna1 A G 3: 54,958,076 (GRCm39) V143A probably damaging Het
Dnah11 T C 12: 118,162,480 (GRCm39) R30G probably benign Het
Hoxc4 A G 15: 102,944,264 (GRCm39) D214G probably damaging Het
Itsn2 A T 12: 4,708,027 (GRCm39) T778S possibly damaging Het
Kcnn2 A G 18: 45,810,138 (GRCm39) probably benign Het
Krtap5-3 G T 7: 141,755,612 (GRCm39) probably benign Het
Lgr5 G T 10: 115,290,369 (GRCm39) Q516K possibly damaging Het
Lrpprc T C 17: 85,057,953 (GRCm39) K759R possibly damaging Het
Mtfr2 A G 10: 20,233,394 (GRCm39) D321G probably damaging Het
Nip7 A G 8: 107,783,802 (GRCm39) Y45C possibly damaging Het
Or4c111 T C 2: 88,844,268 (GRCm39) I47V probably benign Het
Pak1ip1 A T 13: 41,161,494 (GRCm39) T84S possibly damaging Het
Ptpn20 C A 14: 33,344,576 (GRCm39) R167S probably benign Het
Rab4b C T 7: 26,872,151 (GRCm39) G190S probably damaging Het
Shc2 C T 10: 79,456,903 (GRCm39) R571Q probably damaging Het
Smad1 A G 8: 80,083,098 (GRCm39) V134A probably damaging Het
Smad6 A G 9: 63,861,263 (GRCm39) V344A probably damaging Het
Tet2 A G 3: 133,193,846 (GRCm39) L196P possibly damaging Het
Tmem64 T A 4: 15,266,694 (GRCm39) V248E probably damaging Het
Ttc7 C T 17: 87,670,992 (GRCm39) T709I possibly damaging Het
Usp31 A G 7: 121,305,893 (GRCm39) L195P probably damaging Het
Vmn2r112 G A 17: 22,837,917 (GRCm39) V793I probably benign Het
Xpo5 T G 17: 46,535,973 (GRCm39) L535R probably damaging Het
Ythdc2 A T 18: 44,983,464 (GRCm39) M544L probably benign Het
Other mutations in Ropn1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01974:Ropn1l APN 15 31,449,255 (GRCm39) missense probably benign 0.01
IGL02190:Ropn1l APN 15 31,443,487 (GRCm39) missense probably benign
IGL02948:Ropn1l APN 15 31,451,325 (GRCm39) missense possibly damaging 0.95
P0043:Ropn1l UTSW 15 31,457,447 (GRCm39) unclassified probably benign
R0554:Ropn1l UTSW 15 31,451,295 (GRCm39) missense probably benign 0.00
R7166:Ropn1l UTSW 15 31,453,655 (GRCm39) missense
R7330:Ropn1l UTSW 15 31,451,349 (GRCm39) missense
R9209:Ropn1l UTSW 15 31,441,471 (GRCm39) missense
R9784:Ropn1l UTSW 15 31,453,649 (GRCm39) missense
Posted On 2012-04-20