Incidental Mutation 'R8243:P4hb'
| ID |
637667 |
| 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 |
| MMRRC Submission |
067648-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.426)
|
| Stock # |
R8243 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120451124-120464079 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120454206 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 296
(D296G)
|
| 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: D296G
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000026122
Gene: ENSMUSG00000025130
AA Change: D296G
| 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 |
|
| Meta Mutation Damage Score |
0.1881 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.5%
- 10x: 98.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (47/47) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam19 |
T |
A |
11: 46,015,909 (GRCm39) |
H356Q |
probably damaging |
Het |
| BC030500 |
T |
C |
8: 59,365,388 (GRCm39) |
I13T |
unknown |
Het |
| Bcl6 |
C |
T |
16: 23,786,883 (GRCm39) |
C636Y |
probably damaging |
Het |
| Cabyr |
G |
T |
18: 12,883,759 (GRCm39) |
C82F |
probably benign |
Het |
| Clec4a1 |
T |
C |
6: 122,901,778 (GRCm39) |
V70A |
possibly damaging |
Het |
| Col11a1 |
C |
T |
3: 113,855,141 (GRCm39) |
P134S |
unknown |
Het |
| Col27a1 |
A |
G |
4: 63,144,120 (GRCm39) |
T603A |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,576,468 (GRCm39) |
D1964G |
probably damaging |
Het |
| Dnajc8 |
A |
G |
4: 132,278,775 (GRCm39) |
|
probably null |
Het |
| E330034G19Rik |
T |
C |
14: 24,358,360 (GRCm39) |
Y318H |
|
Het |
| Efemp1 |
T |
A |
11: 28,871,690 (GRCm39) |
S402T |
probably damaging |
Het |
| Emcn |
T |
C |
3: 137,097,411 (GRCm39) |
V110A |
possibly damaging |
Het |
| Fgd5 |
C |
T |
6: 91,966,004 (GRCm39) |
L746F |
possibly damaging |
Het |
| Gna13 |
A |
G |
11: 109,287,239 (GRCm39) |
N354S |
probably damaging |
Het |
| Helq |
G |
T |
5: 100,918,348 (GRCm39) |
S855R |
possibly damaging |
Het |
| Hps5 |
G |
T |
7: 46,436,066 (GRCm39) |
A160E |
probably damaging |
Het |
| Igfbp7 |
T |
A |
5: 77,549,339 (GRCm39) |
E188V |
probably benign |
Het |
| Ivd |
A |
G |
2: 118,702,018 (GRCm39) |
Y150C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,708,045 (GRCm39) |
T723A |
probably benign |
Het |
| Kif1b |
T |
C |
4: 149,288,724 (GRCm39) |
N1239S |
probably benign |
Het |
| Klb |
A |
G |
5: 65,536,338 (GRCm39) |
N556S |
possibly damaging |
Het |
| Klhdc8a |
C |
T |
1: 132,230,304 (GRCm39) |
R140C |
possibly damaging |
Het |
| Klhl2 |
T |
A |
8: 65,202,084 (GRCm39) |
M531L |
probably benign |
Het |
| Mark3 |
T |
A |
12: 111,613,956 (GRCm39) |
S546R |
possibly damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Musk |
G |
A |
4: 58,293,600 (GRCm39) |
R63K |
probably benign |
Het |
| Nacad |
C |
T |
11: 6,552,643 (GRCm39) |
E183K |
probably damaging |
Het |
| Oasl1 |
T |
C |
5: 115,066,220 (GRCm39) |
Y113H |
probably benign |
Het |
| Or10g9b |
A |
T |
9: 39,917,484 (GRCm39) |
C254S |
probably benign |
Het |
| Or1x2 |
C |
T |
11: 50,918,138 (GRCm39) |
T103M |
probably benign |
Het |
| Or4c111 |
T |
A |
2: 88,844,051 (GRCm39) |
Y119F |
probably benign |
Het |
| Or51ab3 |
A |
T |
7: 103,201,205 (GRCm39) |
D71V |
probably damaging |
Het |
| Or8b56 |
A |
G |
9: 38,739,803 (GRCm39) |
E272G |
|
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Plekhh1 |
G |
A |
12: 79,125,843 (GRCm39) |
R1293H |
probably benign |
Het |
| Prss21 |
A |
G |
17: 24,088,376 (GRCm39) |
T114A |
probably damaging |
Het |
| Ptprn |
T |
C |
1: 75,229,179 (GRCm39) |
D776G |
probably damaging |
Het |
| Rffl |
A |
G |
11: 82,703,621 (GRCm39) |
C101R |
probably damaging |
Het |
| Rundc1 |
A |
G |
11: 101,316,384 (GRCm39) |
D152G |
probably benign |
Het |
| Sema6c |
A |
G |
3: 95,079,916 (GRCm39) |
T737A |
probably damaging |
Het |
| Sppl2c |
A |
G |
11: 104,078,687 (GRCm39) |
T496A |
probably damaging |
Het |
| Supt7l |
T |
C |
5: 31,673,013 (GRCm39) |
I412V |
probably benign |
Het |
| Trim38 |
T |
A |
13: 23,975,378 (GRCm39) |
I439N |
probably damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Usp18 |
G |
A |
6: 121,246,103 (GRCm39) |
R353H |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,700,849 (GRCm39) |
K1058R |
probably benign |
Het |
| Utp25 |
T |
C |
1: 192,796,937 (GRCm39) |
D598G |
probably benign |
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 |
|
R2331:P4hb
|
UTSW |
11 |
120,459,106 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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'- AGGTCCAACTACACACCTTG -3'
(R):5'- GGACACCGGGTTCTTTTACAG -3'
Sequencing Primer
(F):5'- TGATCTTGCCCTCTAAGAAGCGG -3'
(R):5'- CTTTTACAGGGGCTAGCAGTC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation