Incidental Mutation 'IGL02190:Ropn1l'
ID283821
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ropn1l
Ensembl Gene ENSMUSG00000022236
Gene Nameropporin 1-like
SynonymsASP, AKAP-associated sperm protein
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02190
Quality Score
Status
Chromosome15
Chromosomal Location31441211-31453737 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 31443341 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Isoleucine at position 182 (L182I)
Ref Sequence ENSEMBL: ENSMUSP00000106038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110408]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000091031
Predicted Effect probably benign
Transcript: ENSMUST00000110408
AA Change: L182I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106038
Gene: ENSMUSG00000022236
AA Change: L182I

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T C 5: 129,140,724 probably benign Het
AI314180 A T 4: 58,800,190 S1838R probably benign Het
Ano1 T C 7: 144,618,883 E521G probably benign Het
As3mt A T 19: 46,719,945 I224F probably benign Het
Atp5j2 C A 5: 145,183,832 probably benign Het
Cacna1h A G 17: 25,433,026 V48A probably benign Het
Ctu2 T C 8: 122,481,658 probably benign Het
Efcab5 T C 11: 77,121,314 R841G probably benign Het
Erbb3 A T 10: 128,571,010 probably null Het
Fkbp15 G T 4: 62,304,822 P947T possibly damaging Het
Gabpb1 A G 2: 126,653,549 probably benign Het
Gcn1l1 G T 5: 115,614,124 V2100L probably damaging Het
Gemin5 A C 11: 58,134,842 V977G probably damaging Het
Gpr107 T A 2: 31,178,320 Y265N probably damaging Het
Gpx8 T C 13: 113,043,309 probably benign Het
H2-Eb2 A T 17: 34,334,374 N178I probably damaging Het
Ift172 C T 5: 31,254,458 V1587I possibly damaging Het
Lrrc45 A G 11: 120,718,508 T398A probably damaging Het
Mmrn1 G T 6: 60,987,193 V1059L probably benign Het
Morn5 A G 2: 36,079,515 D147G probably benign Het
Mphosph9 T C 5: 124,265,425 R847G possibly damaging Het
Nutm1 C T 2: 112,249,406 W721* probably null Het
Olfr1136 A G 2: 87,693,063 M273T probably benign Het
Olfr347 T C 2: 36,734,579 L86P probably benign Het
Olfr531 T C 7: 140,400,120 probably benign Het
Rgl3 A G 9: 21,981,708 F227L probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scgb1a1 A T 19: 9,087,867 L12Q probably damaging Het
Scp2 A G 4: 108,087,128 S237P probably benign Het
Skint5 T C 4: 113,940,765 Q207R possibly damaging Het
Slc16a5 A G 11: 115,462,609 M1V probably null Het
Tox2 G A 2: 163,323,006 R522H possibly damaging Het
Trip12 A T 1: 84,766,070 N505K probably damaging Het
Tuba1c G A 15: 99,037,989 D444N unknown Het
Vmn1r174 A G 7: 23,754,827 E306G unknown Het
Vmn2r111 A T 17: 22,570,773 F417L probably benign Het
Vmn2r15 A T 5: 109,293,374 M206K probably damaging Het
Vmn2r95 G T 17: 18,451,776 A592S probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Ropn1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Ropn1l APN 15 31443349 missense probably damaging 1.00
IGL01974:Ropn1l APN 15 31449109 missense probably benign 0.01
IGL02948:Ropn1l APN 15 31451179 missense possibly damaging 0.95
P0043:Ropn1l UTSW 15 31457301 unclassified probably benign
R0554:Ropn1l UTSW 15 31451149 missense probably benign 0.00
R7166:Ropn1l UTSW 15 31453509 missense
R7330:Ropn1l UTSW 15 31451203 missense
Posted On2015-04-16