Incidental Mutation 'R5440:Ropn1'
ID 428607
Institutional Source Beutler Lab
Gene Symbol Ropn1
Ensembl Gene ENSMUSG00000022832
Gene Name ropporin, rhophilin associated protein 1
Synonyms ODF6, 1700008N21Rik, ropporin, RHPNAP1
MMRRC Submission 043005-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R5440 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 34470291-34498988 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34491542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 102 (D102E)
Ref Sequence ENSEMBL: ENSMUSP00000023530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023530] [ENSMUST00000148562]
AlphaFold Q9ESG2
Predicted Effect probably benign
Transcript: ENSMUST00000023530
AA Change: D102E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000023530
Gene: ENSMUSG00000022832
AA Change: D102E

DomainStartEndE-ValueType
PDB:2KYG|B 6 41 3e-6 PDB
SCOP:d1r2aa_ 10 44 5e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148562
AA Change: D102E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122122
Gene: ENSMUSG00000022832
AA Change: D102E

DomainStartEndE-ValueType
Pfam:RIIa 12 43 2.9e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231612
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apc G T 18: 34,354,213 (GRCm39) probably benign Het
Apol11b T A 15: 77,519,793 (GRCm39) K96* probably null Het
Arhgap35 C T 7: 16,296,849 (GRCm39) G739S probably damaging Het
Atp6v0a4 A C 6: 38,069,752 (GRCm39) F47V probably damaging Het
Bcl9 G A 3: 97,117,881 (GRCm39) P271L probably benign Het
Cd109 T C 9: 78,587,446 (GRCm39) probably null Het
Col12a1 T A 9: 79,521,645 (GRCm39) I2771F probably benign Het
Col6a1 A G 10: 76,559,288 (GRCm39) V116A probably damaging Het
Cpsf2 C G 12: 101,963,138 (GRCm39) L401V probably benign Het
Cwf19l2 G A 9: 3,475,549 (GRCm39) E829K probably damaging Het
D7Ertd443e G A 7: 133,951,004 (GRCm39) T223I probably damaging Het
Dtx4 G A 19: 12,469,681 (GRCm39) R149C probably damaging Het
Fam186b C T 15: 99,171,734 (GRCm39) A838T possibly damaging Het
Fzd4 G T 7: 89,057,326 (GRCm39) E458* probably null Het
Gm17669 C T 18: 67,695,526 (GRCm39) P24S possibly damaging Het
Grin2b C T 6: 135,713,304 (GRCm39) G859D probably damaging Het
Gucy2e T C 11: 69,114,472 (GRCm39) Y1019C probably damaging Het
Gzme T A 14: 56,355,910 (GRCm39) N134I possibly damaging Het
Havcr1 A T 11: 46,643,197 (GRCm39) Y39F probably damaging Het
Hint3 A T 10: 30,494,347 (GRCm39) M1K probably null Het
Hspa4l A G 3: 40,736,008 (GRCm39) K543R probably damaging Het
Ifna9 A G 4: 88,510,048 (GRCm39) probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Lipo2 A G 19: 33,698,258 (GRCm39) I373T probably benign Het
Myo5c T A 9: 75,165,407 (GRCm39) I405N possibly damaging Het
Or10a49 T C 7: 108,467,833 (GRCm39) H176R probably damaging Het
P2rx1 A G 11: 72,899,329 (GRCm39) M108V probably benign Het
Pcsk2 T A 2: 143,388,463 (GRCm39) V18E probably benign Het
Pigr A T 1: 130,777,359 (GRCm39) probably null Het
Pkp1 A T 1: 135,810,230 (GRCm39) C447S probably benign Het
Prom1 T A 5: 44,215,988 (GRCm39) I96F probably benign Het
Prpf4b T C 13: 35,068,076 (GRCm39) probably benign Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Sphk1 T G 11: 116,425,714 (GRCm39) V17G possibly damaging Het
Syngr1 A G 15: 79,982,219 (GRCm39) N2S probably benign Het
Syt9 T G 7: 107,101,330 (GRCm39) S359A possibly damaging Het
Terb1 T C 8: 105,215,131 (GRCm39) I282V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ttn A T 2: 76,739,600 (GRCm39) D3646E probably benign Het
Ube2d1 A G 10: 71,091,682 (GRCm39) W141R probably damaging Het
Vmn2r41 T A 7: 8,141,362 (GRCm39) I701F probably damaging Het
Zfp770 T C 2: 114,026,596 (GRCm39) D491G 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
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
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'- TGTCAAACGGGATTCGCTGG -3'
(R):5'- ATTGTTCTTCCAGGCCCAG -3'

Sequencing Primer
(F):5'- AACGGGATTCGCTGGCTCTC -3'
(R):5'- TATACTAAGAACTGGATCTGGAGCCC -3'
Posted On 2016-09-01