Incidental Mutation 'R2331:P4hb'
ID |
245878 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
P4hb
|
Ensembl Gene |
ENSMUSG00000025130 |
Gene Name |
prolyl 4-hydroxylase, beta polypeptide |
Synonyms |
Pdia1, Thbp, ERp59, PDI, protein disulfide isomerase |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.426)
|
Stock # |
R2331 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
120451124-120464079 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 120459106 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 129
(N129S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026122]
[ENSMUST00000168360]
|
AlphaFold |
P09103 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000026122
AA Change: N129S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000026122 Gene: ENSMUSG00000025130 AA Change: N129S
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
27 |
134 |
4.9e-37 |
PFAM |
Pfam:Thioredoxin_2
|
39 |
126 |
3.5e-9 |
PFAM |
Pfam:Thioredoxin_6
|
163 |
347 |
8.3e-44 |
PFAM |
Pfam:Thioredoxin
|
370 |
475 |
1.5e-30 |
PFAM |
low complexity region
|
478 |
501 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168360
|
SMART Domains |
Protein: ENSMUSP00000128796 Gene: ENSMUSG00000025130
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
15 |
N/A |
INTRINSIC |
Pfam:Thioredoxin
|
27 |
131 |
6e-32 |
PFAM |
low complexity region
|
134 |
157 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of prolyl 4-hydroxylase, a highly abundant multifunctional enzyme that belongs to the protein disulfide isomerase family. When present as a tetramer consisting of two alpha and two beta subunits, this enzyme is involved in hydroxylation of prolyl residues in preprocollagen. This enzyme is also a disulfide isomerase containing two thioredoxin domains that catalyze the formation, breakage and rearrangement of disulfide bonds. Other known functions include its ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, its ability to bind thyroid hormone, its role in both the influx and efflux of S-nitrosothiol-bound nitric oxide, and its function as a subunit of the microsomal triglyceride transfer protein complex. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice heterozygous for a knock-out allele and conditional allele activated in immune cells exhibit impaired neutrophil recruitment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aff3 |
C |
T |
1: 38,243,971 (GRCm39) |
|
probably null |
Het |
Cadps |
A |
G |
14: 12,603,692 (GRCm38) |
I376T |
probably damaging |
Het |
Crygs |
C |
T |
16: 22,624,301 (GRCm39) |
G102D |
possibly damaging |
Het |
Gm10295 |
A |
C |
7: 71,000,437 (GRCm39) |
S48A |
unknown |
Het |
Gstcd |
A |
G |
3: 132,704,641 (GRCm39) |
C538R |
probably damaging |
Het |
Hcn3 |
A |
T |
3: 89,055,397 (GRCm39) |
S617T |
probably benign |
Het |
Hectd4 |
A |
G |
5: 121,458,089 (GRCm39) |
I752V |
probably benign |
Het |
Itgb7 |
G |
T |
15: 102,131,983 (GRCm39) |
T200K |
probably damaging |
Het |
Lcn11 |
C |
A |
2: 25,670,188 (GRCm39) |
T177K |
possibly damaging |
Het |
Lsm14a |
A |
G |
7: 34,056,915 (GRCm39) |
V241A |
probably benign |
Het |
Magi1 |
T |
C |
6: 93,662,543 (GRCm39) |
K1075E |
probably damaging |
Het |
Or4c111 |
T |
C |
2: 88,844,265 (GRCm39) |
I48V |
probably benign |
Het |
Or4d10c |
C |
A |
19: 12,065,522 (GRCm39) |
L211F |
probably benign |
Het |
Piezo1 |
C |
T |
8: 123,214,005 (GRCm39) |
|
probably null |
Het |
Ppp3ca |
T |
C |
3: 136,503,580 (GRCm39) |
M51T |
probably benign |
Het |
Sema6d |
T |
C |
2: 124,499,983 (GRCm39) |
V353A |
probably damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Sh3rf1 |
C |
T |
8: 61,679,321 (GRCm39) |
P121L |
probably benign |
Het |
Sh3rf2 |
T |
C |
18: 42,186,928 (GRCm39) |
F16L |
probably benign |
Het |
Sparcl1 |
A |
G |
5: 104,233,660 (GRCm39) |
L563P |
probably damaging |
Het |
Stra6l |
T |
C |
4: 45,858,224 (GRCm39) |
|
probably null |
Het |
Sult2a6 |
A |
T |
7: 13,959,795 (GRCm39) |
M246K |
possibly damaging |
Het |
Trpv5 |
A |
G |
6: 41,636,902 (GRCm39) |
S399P |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,264,011 (GRCm39) |
F1006L |
possibly damaging |
Het |
Uhrf1 |
C |
A |
17: 56,617,671 (GRCm39) |
|
probably null |
Het |
Wdr72 |
A |
G |
9: 74,055,608 (GRCm39) |
Y279C |
probably damaging |
Het |
|
Other mutations in P4hb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00924:P4hb
|
APN |
11 |
120,454,644 (GRCm39) |
missense |
probably benign |
0.00 |
R0042:P4hb
|
UTSW |
11 |
120,459,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R0042:P4hb
|
UTSW |
11 |
120,459,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R0362:P4hb
|
UTSW |
11 |
120,454,162 (GRCm39) |
missense |
probably benign |
0.04 |
R0597:P4hb
|
UTSW |
11 |
120,459,070 (GRCm39) |
missense |
possibly damaging |
0.53 |
R1458:P4hb
|
UTSW |
11 |
120,453,381 (GRCm39) |
splice site |
probably benign |
|
R1635:P4hb
|
UTSW |
11 |
120,462,442 (GRCm39) |
missense |
probably damaging |
0.97 |
R1750:P4hb
|
UTSW |
11 |
120,453,546 (GRCm39) |
missense |
probably damaging |
0.99 |
R1773:P4hb
|
UTSW |
11 |
120,463,552 (GRCm39) |
missense |
probably damaging |
1.00 |
R1856:P4hb
|
UTSW |
11 |
120,454,044 (GRCm39) |
missense |
probably benign |
0.23 |
R1874:P4hb
|
UTSW |
11 |
120,452,992 (GRCm39) |
missense |
probably benign |
|
R2014:P4hb
|
UTSW |
11 |
120,453,522 (GRCm39) |
missense |
probably damaging |
0.98 |
R2239:P4hb
|
UTSW |
11 |
120,454,108 (GRCm39) |
missense |
probably damaging |
1.00 |
R3935:P4hb
|
UTSW |
11 |
120,453,235 (GRCm39) |
missense |
probably benign |
0.20 |
R3936:P4hb
|
UTSW |
11 |
120,453,235 (GRCm39) |
missense |
probably benign |
0.20 |
R5601:P4hb
|
UTSW |
11 |
120,462,441 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5893:P4hb
|
UTSW |
11 |
120,462,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R6533:P4hb
|
UTSW |
11 |
120,462,469 (GRCm39) |
missense |
probably damaging |
1.00 |
R8243:P4hb
|
UTSW |
11 |
120,454,206 (GRCm39) |
missense |
probably benign |
0.03 |
R8940:P4hb
|
UTSW |
11 |
120,458,828 (GRCm39) |
missense |
probably benign |
0.23 |
R9480:P4hb
|
UTSW |
11 |
120,463,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCTTGGCAGAGTCTGACTC -3'
(R):5'- TGGAATCCAGAGGCTGTAGC -3'
Sequencing Primer
(F):5'- GAGTCTGACTCTACGTCCTAGAATAG -3'
(R):5'- CTGTAGCCAGTTCTCTATAGGAG -3'
|
Posted On |
2014-10-30 |