Incidental Mutation 'IGL00935:Prox2'
ID28745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prox2
Ensembl Gene ENSMUSG00000042320
Gene Nameprospero homeobox 2
Synonyms1700058C01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00935
Quality Score
Status
Chromosome12
Chromosomal Location85086385-85110759 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 85087929 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 526 (N526S)
Ref Sequence ENSEMBL: ENSMUSP00000135881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110249] [ENSMUST00000177289]
Predicted Effect probably damaging
Transcript: ENSMUST00000110249
AA Change: N526S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105878
Gene: ENSMUSG00000042320
AA Change: N526S

DomainStartEndE-ValueType
low complexity region 132 148 N/A INTRINSIC
low complexity region 167 181 N/A INTRINSIC
low complexity region 381 399 N/A INTRINSIC
Pfam:HPD 435 588 7.9e-82 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177043
Predicted Effect probably damaging
Transcript: ENSMUST00000177289
AA Change: N526S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135881
Gene: ENSMUSG00000042320
AA Change: N526S

DomainStartEndE-ValueType
low complexity region 132 148 N/A INTRINSIC
low complexity region 167 181 N/A INTRINSIC
low complexity region 381 399 N/A INTRINSIC
Pfam:HPD 434 591 3.9e-86 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal growth, survival and fertility, with no detectable defects in eye structure or horizontal cell development in the retina. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Camk2g C T 14: 20,737,330 G500S probably damaging Het
Fbn1 C A 2: 125,377,910 G666* probably null Het
Gcc2 T A 10: 58,278,779 probably benign Het
Gigyf1 T G 5: 137,524,834 S866A possibly damaging Het
Hid1 C T 11: 115,348,498 V780M probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Lcn2 A G 2: 32,387,578 probably null Het
Nav3 T C 10: 109,705,666 D1912G probably benign Het
Svep1 C A 4: 58,090,664 R1601L possibly damaging Het
Trp63 C T 16: 25,871,076 T427M probably damaging Het
Unc80 A G 1: 66,627,266 N1871S possibly damaging Het
Other mutations in Prox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Prox2 APN 12 85094778 missense probably benign 0.00
IGL01590:Prox2 APN 12 85088071 missense probably damaging 1.00
IGL02153:Prox2 APN 12 85087929 missense probably damaging 1.00
IGL02555:Prox2 APN 12 85095260 nonsense probably null
IGL03038:Prox2 APN 12 85095264 missense possibly damaging 0.91
R2081:Prox2 UTSW 12 85095008 missense probably damaging 0.98
R4285:Prox2 UTSW 12 85094924 missense probably benign 0.00
R4560:Prox2 UTSW 12 85095043 missense probably benign 0.04
R5048:Prox2 UTSW 12 85094341 missense probably damaging 1.00
R5641:Prox2 UTSW 12 85087947 missense probably benign 0.00
R5770:Prox2 UTSW 12 85087380 missense probably benign 0.30
R6291:Prox2 UTSW 12 85089646 missense probably damaging 1.00
R6940:Prox2 UTSW 12 85094574 missense probably benign 0.01
R6991:Prox2 UTSW 12 85087391 missense probably benign 0.00
Posted On2013-04-17