Incidental Mutation 'R9533:P3h2'
| ID |
719584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P3h2
|
| Ensembl Gene |
ENSMUSG00000038168 |
| Gene Name |
prolyl 3-hydroxylase 2 |
| Synonyms |
Leprel1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
25778038-25924534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25789725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 514
(Y514C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039990]
|
| AlphaFold |
Q8CG71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039990
AA Change: Y514C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: Y514C
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
C |
T |
11: 110,102,582 (GRCm39) |
V881I |
probably benign |
Het |
| Acot1 |
C |
T |
12: 84,063,988 (GRCm39) |
S57F |
|
Het |
| Actr3 |
T |
C |
1: 125,339,048 (GRCm39) |
I97V |
probably benign |
Het |
| C4b |
A |
T |
17: 34,956,698 (GRCm39) |
C633* |
probably null |
Het |
| Cdh19 |
T |
A |
1: 110,817,589 (GRCm39) |
T718S |
probably damaging |
Het |
| Coasy |
T |
A |
11: 100,975,852 (GRCm39) |
S355T |
probably benign |
Het |
| Coch |
A |
G |
12: 51,650,132 (GRCm39) |
I374V |
possibly damaging |
Het |
| Dhrs7l |
C |
T |
12: 72,675,050 (GRCm39) |
|
probably benign |
Het |
| Dip2b |
T |
A |
15: 100,073,178 (GRCm39) |
M760K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,957,566 (GRCm39) |
Y428H |
probably damaging |
Het |
| Fst |
G |
A |
13: 114,592,397 (GRCm39) |
R107* |
probably null |
Het |
| Gba1 |
A |
G |
3: 89,114,756 (GRCm39) |
T387A |
probably benign |
Het |
| Gid8 |
A |
T |
2: 180,358,713 (GRCm39) |
Q126L |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,383,929 (GRCm39) |
V1045A |
possibly damaging |
Het |
| Kif23 |
G |
A |
9: 61,832,924 (GRCm39) |
S535L |
probably benign |
Het |
| Krt79 |
G |
A |
15: 101,848,417 (GRCm39) |
A78V |
possibly damaging |
Het |
| Lama2 |
A |
G |
10: 26,862,871 (GRCm39) |
F2964S |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,519,808 (GRCm39) |
D125G |
probably benign |
Het |
| Lrrc15 |
C |
T |
16: 30,092,637 (GRCm39) |
G234D |
possibly damaging |
Het |
| Myo7b |
A |
G |
18: 32,108,297 (GRCm39) |
V1188A |
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,473,729 (GRCm39) |
T37A |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,109,095 (GRCm39) |
I135M |
probably benign |
Het |
| Or2a51 |
A |
G |
6: 43,178,991 (GRCm39) |
R138G |
probably benign |
Het |
| Or6c69 |
T |
A |
10: 129,747,404 (GRCm39) |
I248F |
probably benign |
Het |
| Pcdha5 |
A |
G |
18: 37,093,986 (GRCm39) |
N165S |
probably damaging |
Het |
| Phf10 |
G |
C |
17: 15,175,366 (GRCm39) |
H157D |
probably damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,661,792 (GRCm39) |
R708H |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,698,692 (GRCm39) |
S408P |
unknown |
Het |
| Rab3a |
A |
T |
8: 71,209,804 (GRCm39) |
Y123F |
probably damaging |
Het |
| Rbak |
A |
T |
5: 143,160,172 (GRCm39) |
S294T |
probably damaging |
Het |
| Sarm1 |
T |
C |
11: 78,373,996 (GRCm39) |
D677G |
probably damaging |
Het |
| Scly |
A |
T |
1: 91,228,413 (GRCm39) |
|
probably benign |
Het |
| Slc26a6 |
T |
C |
9: 108,735,481 (GRCm39) |
V385A |
probably damaging |
Het |
| Slc66a2 |
T |
C |
18: 80,327,034 (GRCm39) |
V209A |
unknown |
Het |
| Srp72 |
T |
C |
5: 77,128,274 (GRCm39) |
V165A |
probably benign |
Het |
| Tars3 |
A |
C |
7: 65,333,808 (GRCm39) |
|
probably null |
Het |
| Tspan1 |
T |
A |
4: 116,020,211 (GRCm39) |
M233L |
probably benign |
Het |
| Zfp574 |
G |
A |
7: 24,780,379 (GRCm39) |
G467D |
probably damaging |
Het |
| Zfp85 |
A |
G |
13: 67,897,722 (GRCm39) |
S117P |
probably benign |
Het |
| Zfp932 |
C |
G |
5: 110,157,787 (GRCm39) |
P495R |
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 |
|
IGL02393:P3h2
|
APN |
16 |
25,811,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTCCTGTGACATGCTAGGAAG -3'
(R):5'- TCCCATTGTGGTTAGAAAGAGTTG -3'
Sequencing Primer
(F):5'- GAAGATGACAAGTTCAGGTTCTG -3'
(R):5'- AGAAAGAGTTGTTTCAGTGGGTCAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation