Incidental Mutation 'IGL02555:Prox2'
| ID |
298462 |
| 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 # |
IGL02555
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
85133159-85157533 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 85142034 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 56
(W56*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135881
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000110249]
[ENSMUST00000177289]
|
| AlphaFold |
Q8BII1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000110249
AA Change: W56*
|
| SMART Domains |
Protein: ENSMUSP00000105878
Gene: ENSMUSG00000042320
AA Change: W56*
| 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 |
probably null
Transcript: ENSMUST00000177289
AA Change: W56*
|
| SMART Domains |
Protein: ENSMUSP00000135881
Gene: ENSMUSG00000042320
AA Change: W56*
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
G |
A |
1: 36,740,828 (GRCm39) |
R199C |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,305 (GRCm39) |
C640S |
probably damaging |
Het |
| Adam9 |
T |
C |
8: 25,456,752 (GRCm39) |
N661D |
probably damaging |
Het |
| Amy1 |
C |
T |
3: 113,358,541 (GRCm39) |
E164K |
probably benign |
Het |
| Arid5b |
A |
C |
10: 67,937,734 (GRCm39) |
D221E |
probably benign |
Het |
| B3galt1 |
G |
T |
2: 67,948,905 (GRCm39) |
V207F |
probably benign |
Het |
| Begain |
A |
G |
12: 109,000,115 (GRCm39) |
S219P |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,759,857 (GRCm39) |
|
probably null |
Het |
| Cps1 |
A |
G |
1: 67,253,180 (GRCm39) |
K1224R |
probably benign |
Het |
| Dnm1 |
A |
G |
2: 32,218,050 (GRCm39) |
Y449H |
probably damaging |
Het |
| Epas1 |
A |
T |
17: 87,136,492 (GRCm39) |
M755L |
probably benign |
Het |
| F13b |
T |
C |
1: 139,444,924 (GRCm39) |
C525R |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,016,863 (GRCm39) |
|
probably null |
Het |
| Ighv5-15 |
A |
G |
12: 113,790,735 (GRCm39) |
F3L |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,419,049 (GRCm39) |
Q538R |
possibly damaging |
Het |
| Insrr |
A |
T |
3: 87,721,124 (GRCm39) |
M1092L |
probably damaging |
Het |
| Itgb8 |
C |
T |
12: 119,153,616 (GRCm39) |
V300M |
probably damaging |
Het |
| Kcnk5 |
A |
T |
14: 20,192,053 (GRCm39) |
H369Q |
probably benign |
Het |
| Ly6m |
G |
T |
15: 74,753,457 (GRCm39) |
|
probably benign |
Het |
| Or1m1 |
T |
A |
9: 18,666,769 (GRCm39) |
H54L |
probably benign |
Het |
| Or4a76 |
G |
A |
2: 89,460,547 (GRCm39) |
R232C |
probably damaging |
Het |
| Or4k44 |
A |
G |
2: 111,368,262 (GRCm39) |
V124A |
probably damaging |
Het |
| Or5m10 |
G |
A |
2: 85,717,742 (GRCm39) |
M199I |
probably benign |
Het |
| Plxdc2 |
A |
G |
2: 16,734,152 (GRCm39) |
I417M |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,897,441 (GRCm39) |
E186K |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,581,021 (GRCm39) |
F134L |
probably damaging |
Het |
| Scaf4 |
C |
T |
16: 90,047,193 (GRCm39) |
A395T |
unknown |
Het |
| Sh3tc2 |
G |
T |
18: 62,123,308 (GRCm39) |
A690S |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 55,548,981 (GRCm39) |
S144P |
possibly damaging |
Het |
| Slc6a6 |
C |
T |
6: 91,725,311 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,595 (GRCm39) |
M557K |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,031,873 (GRCm39) |
D549V |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,186,061 (GRCm39) |
N90K |
probably 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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation