Incidental Mutation 'IGL00766:Ophn1'
ID 12867
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ophn1
Ensembl Gene ENSMUSG00000031214
Gene Name oligophrenin 1
Synonyms C130037N19Rik, Wtgr
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # IGL00766
Quality Score
Status
Chromosome X
Chromosomal Location 97597883-97934631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97846720 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 74 (D74G)
Ref Sequence ENSEMBL: ENSMUSP00000109457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033560] [ENSMUST00000113826] [ENSMUST00000142267]
AlphaFold Q99J31
Predicted Effect probably damaging
Transcript: ENSMUST00000033560
AA Change: D74G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033560
Gene: ENSMUSG00000031214
AA Change: D74G

DomainStartEndE-ValueType
coiled coil region 227 259 N/A INTRINSIC
PH 266 370 4.57e-8 SMART
RhoGAP 384 561 2.19e-63 SMART
low complexity region 567 581 N/A INTRINSIC
low complexity region 739 750 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113826
AA Change: D74G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109457
Gene: ENSMUSG00000031214
AA Change: D74G

DomainStartEndE-ValueType
Pfam:BAR_3 6 249 2.5e-80 PFAM
PH 266 370 4.57e-8 SMART
RhoGAP 384 561 2.19e-63 SMART
low complexity region 567 581 N/A INTRINSIC
low complexity region 739 750 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125150
Predicted Effect probably damaging
Transcript: ENSMUST00000142267
AA Change: D74G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119361
Gene: ENSMUSG00000031214
AA Change: D74G

DomainStartEndE-ValueType
coiled coil region 82 109 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156917
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 Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked mental retardation with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous and hemizygous mice exhibit strain background-dependent premature death, dilated brain ventricles, impaired sperm motility, and abnormal behavior including decreased anxiety and increased activity. Heterozygotes have a wavy coat and vibrissae,are small and have decreased litter sizes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 T A 5: 81,942,415 (GRCm39) D1379E probably damaging Het
Akap13 A G 7: 75,354,260 (GRCm39) T1794A probably damaging Het
Ano2 A T 6: 125,990,216 (GRCm39) D779V probably damaging Het
Ap3b1 G T 13: 94,679,392 (GRCm39) probably benign Het
Arfgef1 A G 1: 10,270,012 (GRCm39) V379A probably benign Het
Arhgef10 A G 8: 15,025,006 (GRCm39) Y398C probably damaging Het
Arid2 C T 15: 96,268,286 (GRCm39) R800C probably benign Het
Ccdc88a T A 11: 29,451,046 (GRCm39) H306Q probably damaging Het
Cckar C A 5: 53,857,378 (GRCm39) R344L probably damaging Het
Cplane1 A T 15: 8,281,648 (GRCm39) Q2829L unknown Het
Egfem1 A G 3: 29,711,302 (GRCm39) I237V possibly damaging Het
Erlec1 T A 11: 30,900,623 (GRCm39) K143* probably null Het
Glyat T G 19: 12,628,626 (GRCm39) D140E probably benign Het
Grhl2 T C 15: 37,336,545 (GRCm39) F50L probably damaging Het
Havcr2 T C 11: 46,360,373 (GRCm39) V151A probably damaging Het
Herc1 A G 9: 66,358,023 (GRCm39) Y2368C probably damaging Het
Ift80 A T 3: 68,821,986 (GRCm39) Y686* probably null Het
Itga7 G T 10: 128,777,723 (GRCm39) D235Y possibly damaging Het
Kctd3 C T 1: 188,727,973 (GRCm39) V199I probably benign Het
Mettl25 A G 10: 105,615,443 (GRCm39) probably benign Het
Myoz2 G A 3: 122,810,193 (GRCm39) probably benign Het
Nepro C T 16: 44,549,668 (GRCm39) Q43* probably null Het
Plau A G 14: 20,888,635 (GRCm39) N84S probably benign Het
Rprd2 A G 3: 95,672,691 (GRCm39) V904A possibly damaging Het
Satl1 T C X: 111,315,466 (GRCm39) K330E possibly damaging Het
Sis C T 3: 72,814,570 (GRCm39) probably benign Het
Slc5a5 A C 8: 71,341,181 (GRCm39) I386S probably damaging Het
Slco1c1 T C 6: 141,493,609 (GRCm39) Y264H probably damaging Het
Sulf1 A C 1: 12,890,687 (GRCm39) D375A probably damaging Het
Tesl1 C A X: 23,772,838 (GRCm39) A113E probably benign Het
Tgfbi A G 13: 56,778,408 (GRCm39) D393G probably benign Het
Trim59 A C 3: 68,944,712 (GRCm39) D209E probably benign Het
Ubqln3 G T 7: 103,792,031 (GRCm39) Q20K probably benign Het
Ubr4 A G 4: 139,168,077 (GRCm39) D2808G probably damaging Het
Other mutations in Ophn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1900:Ophn1 UTSW X 97,769,665 (GRCm39) nonsense probably null
R9282:Ophn1 UTSW X 97,622,145 (GRCm39) missense probably benign 0.04
R9283:Ophn1 UTSW X 97,622,145 (GRCm39) missense probably benign 0.04
X0060:Ophn1 UTSW X 97,769,688 (GRCm39) missense probably damaging 1.00
Posted On 2012-12-06