Incidental Mutation 'R0962:P3h2'
| ID |
81320 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P3h2
|
| Ensembl Gene |
ENSMUSG00000038168 |
| Gene Name |
prolyl 3-hydroxylase 2 |
| Synonyms |
Leprel1 |
| MMRRC Submission |
039091-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
25778038-25924534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 25815998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 172
(M172V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038056
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039990]
|
| AlphaFold |
Q8CG71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039990
AA Change: M172V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038056
Gene: ENSMUSG00000038168
AA Change: M172V
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.9%
- 20x: 96.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
G |
A |
11: 84,202,129 (GRCm39) |
A196T |
probably damaging |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,798 (GRCm39) |
R97* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,553,465 (GRCm39) |
I5470V |
probably benign |
Het |
| Afg3l2 |
T |
C |
18: 67,538,497 (GRCm39) |
T754A |
possibly damaging |
Het |
| Agfg1 |
T |
C |
1: 82,864,117 (GRCm39) |
F395S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,212 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
T |
C |
5: 114,262,014 (GRCm39) |
K239E |
possibly damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,827,290 (GRCm39) |
C87* |
probably null |
Het |
| Apob |
A |
G |
12: 8,039,191 (GRCm39) |
I461V |
probably damaging |
Het |
| Arap1 |
C |
T |
7: 101,034,121 (GRCm39) |
P188S |
possibly damaging |
Het |
| Atp12a |
G |
A |
14: 56,605,870 (GRCm39) |
E64K |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,416,192 (GRCm39) |
H647Q |
possibly damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,498 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,720,039 (GRCm39) |
V429D |
possibly damaging |
Het |
| Cfap299 |
T |
C |
5: 98,714,420 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,128,266 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,353,696 (GRCm39) |
N757K |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,833,432 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Ebf3 |
T |
C |
7: 136,826,932 (GRCm39) |
T111A |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,948,010 (GRCm39) |
I319T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,363 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,198,716 (GRCm39) |
W809* |
probably null |
Het |
| Hhipl1 |
A |
G |
12: 108,293,980 (GRCm39) |
K629E |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,134,223 (GRCm39) |
S126T |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,580,832 (GRCm39) |
N24S |
probably benign |
Het |
| Htra3 |
T |
A |
5: 35,825,700 (GRCm39) |
I185F |
probably damaging |
Het |
| Impg1 |
C |
T |
9: 80,289,023 (GRCm39) |
D345N |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kdm7a |
A |
G |
6: 39,124,128 (GRCm39) |
V720A |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,912,293 (GRCm39) |
D212G |
possibly damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,283,846 (GRCm39) |
*139K |
probably null |
Het |
| Lrp11 |
T |
A |
10: 7,466,060 (GRCm39) |
V82D |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,051,964 (GRCm39) |
Y425H |
probably benign |
Het |
| Mfn2 |
T |
C |
4: 147,966,658 (GRCm39) |
N511S |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,979,624 (GRCm39) |
S108P |
probably damaging |
Het |
| Ms4a6c |
C |
T |
19: 11,448,506 (GRCm39) |
T13M |
probably benign |
Het |
| Naip2 |
C |
A |
13: 100,315,893 (GRCm39) |
V296F |
probably damaging |
Het |
| Or2d36 |
T |
A |
7: 106,747,294 (GRCm39) |
F257Y |
possibly damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,217 (GRCm39) |
V254A |
possibly damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,834 (GRCm39) |
C141S |
probably damaging |
Het |
| Pcolce2 |
T |
G |
9: 95,552,087 (GRCm39) |
N73K |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,111,098 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
A |
G |
7: 44,997,146 (GRCm39) |
|
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,463 (GRCm39) |
D182G |
possibly damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,450,481 (GRCm39) |
|
probably benign |
Het |
| Rpain |
G |
A |
11: 70,865,867 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
C |
T |
5: 142,147,630 (GRCm39) |
T1754I |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,678,880 (GRCm39) |
L267Q |
probably damaging |
Het |
| Tex9 |
T |
C |
9: 72,391,374 (GRCm39) |
T92A |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,968,387 (GRCm39) |
I460F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,780,500 (GRCm39) |
Y1084N |
probably damaging |
Het |
| Utp6 |
A |
G |
11: 79,832,694 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTTTGACCGTATGAACGTTAGTGC -3'
(R):5'- CTAGAGGGCAGAAATCTTACCAAGCTG -3'
Sequencing Primer
(F):5'- ACTGTATGCTTTAGCTCGGAC -3'
(R):5'- GTAAACTGGGAACAGTCTTGTC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation