Incidental Mutation 'IGL01590:Prox2'
ID91554
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 #IGL01590
Quality Score
Status
Chromosome12
Chromosomal Location85086385-85110759 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 85088071 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 479 (W479R)
Ref Sequence ENSEMBL: ENSMUSP00000135881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110249] [ENSMUST00000177289]
Predicted Effect probably damaging
Transcript: ENSMUST00000110249
AA Change: W479R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105878
Gene: ENSMUSG00000042320
AA Change: W479R

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: W479R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135881
Gene: ENSMUSG00000042320
AA Change: W479R

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik T A 2: 19,477,779 probably benign Het
Adgrb2 T G 4: 130,013,813 probably benign Het
Apcs C T 1: 172,894,467 G104D probably damaging Het
Atp10b G A 11: 43,172,721 R161H probably benign Het
Cep250 A T 2: 155,992,317 Q2054L possibly damaging Het
Dennd6a T G 14: 26,619,352 V207G probably benign Het
Ehbp1 C A 11: 22,095,611 D688Y possibly damaging Het
Fam83a C A 15: 58,009,777 S334Y probably damaging Het
Fam83e T A 7: 45,723,936 F242Y probably null Het
Fnip1 A T 11: 54,493,300 D341V probably damaging Het
Gm17359 A C 3: 79,449,340 N150T probably damaging Het
Gm5286 G A 3: 94,198,367 probably benign Het
Gpatch3 A G 4: 133,580,717 probably benign Het
Gpc2 C A 5: 138,274,378 V558F probably damaging Het
H2-M10.6 A G 17: 36,812,749 N112D probably benign Het
Hs6st1 A T 1: 36,103,704 D240V probably damaging Het
Inpp5f T A 7: 128,664,307 probably null Het
Itga8 G T 2: 12,160,333 H822N probably damaging Het
Kif20b T A 19: 34,954,726 N1263K possibly damaging Het
Krt28 A G 11: 99,374,394 probably null Het
Muc5ac A T 7: 141,798,893 M706L probably benign Het
Olfr340 A T 2: 36,452,992 M136L probably benign Het
Olfr651 A C 7: 104,553,575 I219L probably benign Het
Rps19 A T 7: 24,888,456 D152V probably damaging Het
Slc20a1 G A 2: 129,209,226 probably benign Het
Slc7a2 C T 8: 40,914,100 P564S probably damaging Het
Slco1a5 C A 6: 142,250,319 M319I probably benign Het
Tanc1 A G 2: 59,785,473 T275A probably benign Het
Tenm3 A G 8: 48,228,802 S2598P probably damaging Het
Tiparp G A 3: 65,531,976 E56K probably benign Het
Trpm5 G A 7: 143,082,734 R489C probably damaging Het
Vmn2r84 C A 10: 130,386,095 G752V probably damaging Het
Wnt5b T A 6: 119,440,554 T130S possibly damaging Het
Other mutations in Prox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Prox2 APN 12 85094778 missense probably benign 0.00
IGL00935:Prox2 APN 12 85087929 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
R7752:Prox2 UTSW 12 85088041 missense probably damaging 1.00
Posted On2013-12-09