Incidental Mutation 'R5190:P3h2'
ID |
398073 |
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 # |
R5190 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
16 |
Chromosomal Location |
25778038-25924534 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25803699 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 356
(S356P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038056
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039990]
|
AlphaFold |
Q8CG71 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039990
AA Change: S356P
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038056 Gene: ENSMUSG00000038168 AA Change: S356P
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: ENSMUST00000160067
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161878
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Abca7 |
T |
C |
10: 79,835,427 (GRCm39) |
|
probably null |
Het |
Abca8a |
C |
T |
11: 109,980,735 (GRCm39) |
|
probably null |
Het |
Ablim3 |
A |
G |
18: 61,952,982 (GRCm39) |
Y361H |
probably benign |
Het |
Acan |
C |
T |
7: 78,748,289 (GRCm39) |
T1020I |
probably benign |
Het |
Baat |
A |
G |
4: 49,499,652 (GRCm39) |
L218P |
probably damaging |
Het |
Bcl11b |
C |
A |
12: 107,955,975 (GRCm39) |
C58F |
probably damaging |
Het |
Cand2 |
G |
T |
6: 115,766,474 (GRCm39) |
A360S |
probably damaging |
Het |
Cdh2 |
A |
G |
18: 16,783,372 (GRCm39) |
V62A |
possibly damaging |
Het |
Cep44 |
C |
T |
8: 56,985,831 (GRCm39) |
V354I |
probably benign |
Het |
Col3a1 |
G |
A |
1: 45,368,244 (GRCm39) |
R309Q |
unknown |
Het |
Col3a1 |
G |
A |
1: 45,383,967 (GRCm39) |
|
probably benign |
Het |
Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
Crtac1 |
A |
G |
19: 42,322,347 (GRCm39) |
I131T |
possibly damaging |
Het |
Decr1 |
C |
T |
4: 15,924,270 (GRCm39) |
V217M |
probably damaging |
Het |
Dnajc13 |
A |
G |
9: 104,051,724 (GRCm39) |
V1706A |
probably benign |
Het |
Dop1a |
A |
G |
9: 86,369,357 (GRCm39) |
I63M |
probably damaging |
Het |
F830045P16Rik |
T |
C |
2: 129,314,635 (GRCm39) |
D214G |
probably benign |
Het |
Fam216a |
T |
A |
5: 122,505,584 (GRCm39) |
|
probably null |
Het |
Fdxacb1 |
A |
C |
9: 50,683,387 (GRCm39) |
H248P |
possibly damaging |
Het |
Gnai1 |
A |
T |
5: 18,496,596 (GRCm39) |
V109E |
probably benign |
Het |
Helz2 |
A |
T |
2: 180,872,550 (GRCm39) |
|
probably null |
Het |
Itgam |
T |
C |
7: 127,715,489 (GRCm39) |
|
probably null |
Het |
Kcnh1 |
A |
G |
1: 192,187,836 (GRCm39) |
S766G |
probably benign |
Het |
Klra1 |
C |
A |
6: 130,352,241 (GRCm39) |
C167F |
probably damaging |
Het |
Krtap9-3 |
T |
A |
11: 99,488,808 (GRCm39) |
T25S |
probably benign |
Het |
Mapk6 |
T |
C |
9: 75,295,626 (GRCm39) |
Y624C |
probably damaging |
Het |
Or10ag2 |
A |
G |
2: 87,249,187 (GRCm39) |
Y263C |
probably damaging |
Het |
Or1ad8 |
T |
G |
11: 50,898,381 (GRCm39) |
I194S |
probably damaging |
Het |
Or2y1g |
T |
C |
11: 49,171,209 (GRCm39) |
V78A |
probably damaging |
Het |
Or52e4 |
C |
T |
7: 104,705,660 (GRCm39) |
S69L |
probably damaging |
Het |
Or9m2 |
T |
A |
2: 87,821,107 (GRCm39) |
Y217* |
probably null |
Het |
Pde12 |
C |
T |
14: 26,387,532 (GRCm39) |
|
probably null |
Het |
Rln3 |
T |
G |
8: 84,769,866 (GRCm39) |
K94N |
probably damaging |
Het |
Skint5 |
T |
C |
4: 113,620,711 (GRCm39) |
I668V |
unknown |
Het |
Slitrk5 |
C |
A |
14: 111,916,852 (GRCm39) |
Q159K |
probably damaging |
Het |
Trim3 |
G |
T |
7: 105,268,716 (GRCm39) |
N79K |
probably damaging |
Het |
Tyw1 |
T |
A |
5: 130,296,756 (GRCm39) |
C101* |
probably null |
Het |
Ulk2 |
T |
C |
11: 61,672,537 (GRCm39) |
T934A |
probably benign |
Het |
Unc5b |
T |
C |
10: 60,608,072 (GRCm39) |
Y687C |
probably benign |
Het |
Vmn1r195 |
C |
T |
13: 22,462,556 (GRCm39) |
R9* |
probably null |
Het |
Zfc3h1 |
T |
G |
10: 115,254,597 (GRCm39) |
L1397R |
probably damaging |
Het |
Zfp296 |
T |
C |
7: 19,311,332 (GRCm39) |
V9A |
probably benign |
Het |
Zfp423 |
T |
A |
8: 88,509,091 (GRCm39) |
S397C |
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 |
|
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'- CCCTAGGCAACAGGTTTGTCAC -3'
(R):5'- GGCAAATCTGGCTGATTCAAATG -3'
Sequencing Primer
(F):5'- GCAACAGGTTTGTCACAAGATTGTG -3'
(R):5'- CTGGCTGATTCAAATGTGGCAAC -3'
|
Posted On |
2016-07-06 |