Incidental Mutation 'IGL02393:P3h2'
ID |
293883 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
P3h2
|
Ensembl Gene |
ENSMUSG00000038168 |
Gene Name |
prolyl 3-hydroxylase 2 |
Synonyms |
Leprel1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02393
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
25778038-25924534 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25811575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 216
(Y216C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039990]
|
AlphaFold |
Q8CG71 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039990
AA Change: Y216C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038056 Gene: ENSMUSG00000038168 AA Change: Y216C
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
low complexity region
|
27 |
36 |
N/A |
INTRINSIC |
Pfam:TPR_2
|
42 |
73 |
2.5e-5 |
PFAM |
low complexity region
|
81 |
104 |
N/A |
INTRINSIC |
low complexity region
|
114 |
123 |
N/A |
INTRINSIC |
Pfam:TPR_2
|
206 |
237 |
1.2e-5 |
PFAM |
low complexity region
|
253 |
266 |
N/A |
INTRINSIC |
internal_repeat_1
|
304 |
366 |
4.75e-7 |
PROSPERO |
P4Hc
|
457 |
665 |
1.45e-51 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159161
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161878
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] PHENOTYPE: Mice homozygous for a knock-out allele of exon 2 exhibit embryonic lethality between E8.5 and E12.5 with maternal platelets aggregate around the ectoplacental cone. Exon 3 knockouts are viable but mice exhibit reduced hydroxylation of collagen chains, especially in the sclera, leading to eye tissue dysmorphology and progressive myopia. [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 |
Adam32 |
A |
T |
8: 25,410,069 (GRCm39) |
Y129N |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,902,872 (GRCm39) |
K695R |
probably damaging |
Het |
Arhgap18 |
T |
G |
10: 26,753,179 (GRCm39) |
S357R |
probably benign |
Het |
Camsap1 |
T |
C |
2: 25,828,334 (GRCm39) |
H1130R |
probably benign |
Het |
Cdkl4 |
A |
G |
17: 80,867,844 (GRCm39) |
F35L |
probably damaging |
Het |
Crnn |
A |
G |
3: 93,056,675 (GRCm39) |
H487R |
probably damaging |
Het |
Dcaf4 |
C |
T |
12: 83,576,805 (GRCm39) |
P95L |
probably damaging |
Het |
Deaf1 |
A |
T |
7: 140,893,246 (GRCm39) |
V382E |
possibly damaging |
Het |
Dph7 |
T |
G |
2: 24,856,609 (GRCm39) |
V187G |
possibly damaging |
Het |
Fat3 |
G |
T |
9: 15,899,708 (GRCm39) |
C3108* |
probably null |
Het |
Ggt5 |
T |
C |
10: 75,446,071 (GRCm39) |
|
probably benign |
Het |
Kif26a |
G |
A |
12: 112,139,098 (GRCm39) |
V396M |
probably damaging |
Het |
Med17 |
G |
A |
9: 15,188,963 (GRCm39) |
R101* |
probably null |
Het |
Mterf4 |
C |
T |
1: 93,230,601 (GRCm39) |
V182I |
possibly damaging |
Het |
Nsg1 |
T |
C |
5: 38,316,255 (GRCm39) |
D32G |
probably damaging |
Het |
Or5k8 |
A |
G |
16: 58,644,409 (GRCm39) |
I221T |
probably damaging |
Het |
Or6c3 |
T |
C |
10: 129,309,064 (GRCm39) |
S168P |
probably damaging |
Het |
Or6c65 |
T |
A |
10: 129,603,662 (GRCm39) |
V99E |
probably benign |
Het |
Pdzd9 |
A |
C |
7: 120,262,206 (GRCm39) |
Y85* |
probably null |
Het |
Prkdc |
T |
A |
16: 15,634,622 (GRCm39) |
V3589D |
probably benign |
Het |
Qars1 |
A |
G |
9: 108,391,528 (GRCm39) |
T26A |
probably benign |
Het |
Relch |
A |
G |
1: 105,615,093 (GRCm39) |
I253M |
probably damaging |
Het |
Rhd |
T |
C |
4: 134,611,406 (GRCm39) |
S189P |
probably benign |
Het |
Rhobtb1 |
A |
T |
10: 69,124,817 (GRCm39) |
H555L |
probably damaging |
Het |
Rogdi |
G |
A |
16: 4,827,088 (GRCm39) |
S306F |
probably benign |
Het |
Slc25a25 |
C |
T |
2: 32,307,855 (GRCm39) |
V259I |
probably benign |
Het |
Srrm1 |
A |
T |
4: 135,048,725 (GRCm39) |
|
probably benign |
Het |
Stkld1 |
T |
C |
2: 26,840,154 (GRCm39) |
V408A |
probably benign |
Het |
Thbs1 |
T |
C |
2: 117,953,580 (GRCm39) |
V999A |
possibly damaging |
Het |
Tmprss11d |
T |
A |
5: 86,451,471 (GRCm39) |
*280L |
probably null |
Het |
Trim54 |
A |
G |
5: 31,289,324 (GRCm39) |
|
probably benign |
Het |
Tspear |
G |
A |
10: 77,672,407 (GRCm39) |
R202H |
probably damaging |
Het |
Vwa8 |
G |
A |
14: 79,420,417 (GRCm39) |
G1706D |
probably damaging |
Het |
|
Other mutations in P3h2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00825:P3h2
|
APN |
16 |
25,811,548 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01012:P3h2
|
APN |
16 |
25,805,998 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02436:P3h2
|
APN |
16 |
25,815,950 (GRCm39) |
missense |
probably benign |
0.01 |
PIT4445001:P3h2
|
UTSW |
16 |
25,803,749 (GRCm39) |
missense |
probably benign |
0.01 |
R0319:P3h2
|
UTSW |
16 |
25,789,681 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0403:P3h2
|
UTSW |
16 |
25,788,700 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0962:P3h2
|
UTSW |
16 |
25,815,998 (GRCm39) |
missense |
probably benign |
|
R1290:P3h2
|
UTSW |
16 |
25,805,953 (GRCm39) |
missense |
probably damaging |
0.99 |
R1300:P3h2
|
UTSW |
16 |
25,815,986 (GRCm39) |
nonsense |
probably null |
|
R1467:P3h2
|
UTSW |
16 |
25,784,618 (GRCm39) |
splice site |
probably benign |
|
R1643:P3h2
|
UTSW |
16 |
25,791,041 (GRCm39) |
missense |
probably benign |
0.00 |
R1645:P3h2
|
UTSW |
16 |
25,815,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R1761:P3h2
|
UTSW |
16 |
25,803,800 (GRCm39) |
missense |
probably damaging |
0.96 |
R4227:P3h2
|
UTSW |
16 |
25,924,203 (GRCm39) |
missense |
probably benign |
|
R4273:P3h2
|
UTSW |
16 |
25,923,971 (GRCm39) |
missense |
probably benign |
0.00 |
R4409:P3h2
|
UTSW |
16 |
25,924,040 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4410:P3h2
|
UTSW |
16 |
25,924,040 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4653:P3h2
|
UTSW |
16 |
25,924,027 (GRCm39) |
missense |
probably damaging |
0.98 |
R4968:P3h2
|
UTSW |
16 |
25,811,412 (GRCm39) |
critical splice donor site |
probably null |
|
R5190:P3h2
|
UTSW |
16 |
25,803,699 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6113:P3h2
|
UTSW |
16 |
25,799,903 (GRCm39) |
missense |
probably benign |
0.01 |
R6225:P3h2
|
UTSW |
16 |
25,784,493 (GRCm39) |
missense |
probably damaging |
0.97 |
R6838:P3h2
|
UTSW |
16 |
25,924,034 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6881:P3h2
|
UTSW |
16 |
25,811,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R7089:P3h2
|
UTSW |
16 |
25,784,559 (GRCm39) |
missense |
probably damaging |
1.00 |
R7445:P3h2
|
UTSW |
16 |
25,803,815 (GRCm39) |
missense |
probably damaging |
0.96 |
R7753:P3h2
|
UTSW |
16 |
25,789,687 (GRCm39) |
missense |
probably damaging |
1.00 |
R8166:P3h2
|
UTSW |
16 |
25,811,572 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8363:P3h2
|
UTSW |
16 |
25,811,468 (GRCm39) |
missense |
probably damaging |
0.98 |
R8442:P3h2
|
UTSW |
16 |
25,805,955 (GRCm39) |
missense |
probably benign |
0.05 |
R8812:P3h2
|
UTSW |
16 |
25,801,467 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8965:P3h2
|
UTSW |
16 |
25,791,134 (GRCm39) |
missense |
probably benign |
0.41 |
R9187:P3h2
|
UTSW |
16 |
25,924,186 (GRCm39) |
missense |
probably benign |
0.27 |
R9193:P3h2
|
UTSW |
16 |
25,923,991 (GRCm39) |
missense |
probably benign |
0.07 |
R9533:P3h2
|
UTSW |
16 |
25,789,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |