Incidental Mutation 'IGL00935:Prox2'
| ID |
28745 |
| 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)
|
| Stock # |
IGL00935
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
85133159-85157533 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 85134703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| 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]
|
| AlphaFold |
Q8BII1 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
| Fbn1 |
C |
A |
2: 125,219,830 (GRCm39) |
G666* |
probably null |
Het |
| Gcc2 |
T |
A |
10: 58,114,601 (GRCm39) |
|
probably benign |
Het |
| Gigyf1 |
T |
G |
5: 137,523,096 (GRCm39) |
S866A |
possibly damaging |
Het |
| Hid1 |
C |
T |
11: 115,239,324 (GRCm39) |
V780M |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Lcn2 |
A |
G |
2: 32,277,590 (GRCm39) |
|
probably null |
Het |
| Nav3 |
T |
C |
10: 109,541,527 (GRCm39) |
D1912G |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,090,664 (GRCm39) |
R1601L |
possibly damaging |
Het |
| Trp63 |
C |
T |
16: 25,689,826 (GRCm39) |
T427M |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,666,425 (GRCm39) |
N1871S |
possibly damaging |
Het |
|
| Other mutations in Prox2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00514:Prox2
|
APN |
12 |
85,141,552 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
IGL03038:Prox2
|
APN |
12 |
85,142,038 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
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 |
2013-04-17 |
Incidental Mutation