Incidental Mutation 'IGL03038:Prox2'
ID 408774
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prox2
Ensembl Gene ENSMUSG00000042320
Gene Name prospero homeobox 2
Synonyms 1700058C01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03038
Quality Score
Status
Chromosome 12
Chromosomal Location 85133159-85157533 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85142038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 55 (D55G)
Ref Sequence ENSEMBL: ENSMUSP00000135881 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110249] [ENSMUST00000177289]
AlphaFold Q8BII1
Predicted Effect possibly damaging
Transcript: ENSMUST00000110249
AA Change: D55G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105878
Gene: ENSMUSG00000042320
AA Change: D55G

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 possibly damaging
Transcript: ENSMUST00000177289
AA Change: D55G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000135881
Gene: ENSMUSG00000042320
AA Change: D55G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191324
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) probably benign Het
Other mutations in Prox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Prox2 APN 12 85,141,552 (GRCm39) missense probably benign 0.00
IGL00935:Prox2 APN 12 85,134,703 (GRCm39) missense probably damaging 1.00
IGL01590:Prox2 APN 12 85,134,845 (GRCm39) missense probably damaging 1.00
IGL02153:Prox2 APN 12 85,134,703 (GRCm39) missense probably damaging 1.00
IGL02555:Prox2 APN 12 85,142,034 (GRCm39) nonsense probably null
R2081:Prox2 UTSW 12 85,141,782 (GRCm39) missense probably damaging 0.98
R4285:Prox2 UTSW 12 85,141,698 (GRCm39) missense probably benign 0.00
R4560:Prox2 UTSW 12 85,141,817 (GRCm39) missense probably benign 0.04
R5048:Prox2 UTSW 12 85,141,115 (GRCm39) missense probably damaging 1.00
R5641:Prox2 UTSW 12 85,134,721 (GRCm39) missense probably benign 0.00
R5770:Prox2 UTSW 12 85,134,154 (GRCm39) missense probably benign 0.30
R6291:Prox2 UTSW 12 85,136,420 (GRCm39) missense probably damaging 1.00
R6940:Prox2 UTSW 12 85,141,348 (GRCm39) missense probably benign 0.01
R6991:Prox2 UTSW 12 85,134,165 (GRCm39) missense probably benign 0.00
R7752:Prox2 UTSW 12 85,134,815 (GRCm39) missense probably damaging 1.00
R8315:Prox2 UTSW 12 85,142,182 (GRCm39) missense probably benign 0.02
R9500:Prox2 UTSW 12 85,134,851 (GRCm39) missense probably damaging 1.00
R9569:Prox2 UTSW 12 85,141,766 (GRCm39) nonsense probably null
R9570:Prox2 UTSW 12 85,141,766 (GRCm39) nonsense probably null
R9571:Prox2 UTSW 12 85,141,766 (GRCm39) nonsense probably null
R9573:Prox2 UTSW 12 85,141,766 (GRCm39) nonsense probably null
Posted On 2016-08-02