Incidental Mutation 'P0043:Ropn1l'
ID 7675
Institutional Source Beutler Lab
Gene Symbol Ropn1l
Ensembl Gene ENSMUSG00000022236
Gene Name ropporin 1-like
Synonyms AKAP-associated sperm protein, ASP
MMRRC Submission 038291-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # P0043 (G1)
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 31441356-31453835 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to C at 31457447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000106038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090227] [ENSMUST00000110408]
AlphaFold Q9EQ00
Predicted Effect probably benign
Transcript: ENSMUST00000090227
SMART Domains Protein: ENSMUSP00000087694
Gene: ENSMUSG00000039100

DomainStartEndE-ValueType
RINGv 8 56 1.13e-21 SMART
transmembrane domain 92 114 N/A INTRINSIC
transmembrane domain 141 163 N/A INTRINSIC
low complexity region 223 259 N/A INTRINSIC
transmembrane domain 290 312 N/A INTRINSIC
transmembrane domain 332 354 N/A INTRINSIC
transmembrane domain 367 389 N/A INTRINSIC
transmembrane domain 420 442 N/A INTRINSIC
transmembrane domain 480 502 N/A INTRINSIC
transmembrane domain 522 540 N/A INTRINSIC
low complexity region 574 599 N/A INTRINSIC
transmembrane domain 633 655 N/A INTRINSIC
transmembrane domain 675 697 N/A INTRINSIC
transmembrane domain 720 742 N/A INTRINSIC
transmembrane domain 762 784 N/A INTRINSIC
transmembrane domain 805 827 N/A INTRINSIC
transmembrane domain 847 866 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110408
SMART Domains Protein: ENSMUSP00000106038
Gene: ENSMUSG00000022236

DomainStartEndE-ValueType
SCOP:d1r2aa_ 13 49 7e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227135
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228386
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 81.5%
  • 3x: 74.1%
  • 10x: 50.1%
  • 20x: 26.7%
Validation Efficiency 74% (145/195)
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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Chn1 A T 2: 73,454,509 (GRCm39) V247E probably damaging Het
Col28a1 T A 6: 8,168,152 (GRCm39) probably benign Het
Cxcl5 A G 5: 90,907,826 (GRCm39) I85M probably damaging Het
Fnip1 A G 11: 54,394,051 (GRCm39) E829G probably benign Het
Kctd18 G A 1: 58,006,722 (GRCm39) R43C probably damaging Het
Kidins220 T A 12: 25,058,155 (GRCm39) F629I probably damaging Het
Lamb1 T C 12: 31,328,620 (GRCm39) S195P probably damaging Het
Lrrc74b A T 16: 17,376,023 (GRCm39) probably benign Het
Mrpl30 A G 1: 37,937,259 (GRCm39) T133A probably benign Het
Mrps27 A G 13: 99,548,754 (GRCm39) T297A probably benign Het
Per1 G T 11: 68,992,869 (GRCm39) probably benign Het
Ptprq C A 10: 107,416,086 (GRCm39) M1737I probably benign Het
Sfrp4 A G 13: 19,807,765 (GRCm39) I55V probably benign Het
Spata31 G A 13: 65,068,820 (GRCm39) probably null Het
Trpm6 T A 19: 18,855,129 (GRCm39) D1929E probably damaging Het
Ttn A G 2: 76,628,358 (GRCm39) S12855P probably damaging Het
Zscan10 C T 17: 23,828,594 (GRCm39) R302* probably null Het
Other mutations in Ropn1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00341:Ropn1l APN 15 31,443,495 (GRCm39) missense probably damaging 1.00
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
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 2012-10-29