Incidental Mutation 'R6533:P4hb'
| ID |
520217 |
| 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 |
044659-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.425)
|
| Stock # |
R6533 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
120451124-120464079 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120462469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 79
(I79N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026122
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026122]
[ENSMUST00000168360]
|
| AlphaFold |
P09103 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026122
AA Change: I79N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026122
Gene: ENSMUSG00000025130
AA Change: I79N
| 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 |
0.9247 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010B08Rik |
C |
T |
2: 173,561,628 (GRCm39) |
|
probably benign |
Het |
| 4932414N04Rik |
G |
T |
2: 68,546,662 (GRCm39) |
E115* |
probably null |
Het |
| Abhd16a |
G |
A |
17: 35,317,785 (GRCm39) |
|
probably null |
Het |
| Ankrd28 |
T |
A |
14: 31,454,041 (GRCm39) |
I244L |
possibly damaging |
Het |
| Barx2 |
T |
C |
9: 31,824,275 (GRCm39) |
Y38C |
probably damaging |
Het |
| Btn2a2 |
C |
A |
13: 23,665,951 (GRCm39) |
E294* |
probably null |
Het |
| Ceacam2 |
C |
G |
7: 25,230,136 (GRCm39) |
V157L |
probably benign |
Het |
| Ces2c |
T |
A |
8: 105,578,725 (GRCm39) |
F334L |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,790,426 (GRCm39) |
I958T |
unknown |
Het |
| Dcp2 |
T |
A |
18: 44,532,731 (GRCm39) |
D82E |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,965,964 (GRCm39) |
L2432S |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,342,590 (GRCm39) |
D7582G |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,910,195 (GRCm39) |
I1936L |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,909 (GRCm39) |
N396I |
probably damaging |
Het |
| Lonrf2 |
A |
C |
1: 38,852,349 (GRCm39) |
D167E |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,933,663 (GRCm39) |
D1575G |
probably benign |
Het |
| Med23 |
T |
C |
10: 24,769,518 (GRCm39) |
L101P |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,981,245 (GRCm39) |
I703V |
probably damaging |
Het |
| Ncan |
G |
A |
8: 70,549,007 (GRCm39) |
A1257V |
probably benign |
Het |
| Nipal4 |
A |
T |
11: 46,041,234 (GRCm39) |
Y320* |
probably null |
Het |
| Obox5 |
A |
T |
7: 15,491,532 (GRCm39) |
Q24L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,454,644 (GRCm39) |
S345P |
probably benign |
Het |
| Phf3 |
A |
T |
1: 30,845,399 (GRCm39) |
I1262N |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,022,697 (GRCm39) |
N291K |
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,440,845 (GRCm39) |
R691H |
possibly damaging |
Het |
| Ppm1m |
T |
C |
9: 106,074,069 (GRCm39) |
|
probably benign |
Het |
| Ptprd |
A |
T |
4: 76,046,765 (GRCm39) |
D500E |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,965,151 (GRCm39) |
|
probably null |
Het |
| Rnf214 |
A |
G |
9: 45,811,361 (GRCm39) |
S101P |
probably benign |
Het |
| Sdhc |
A |
G |
1: 170,957,396 (GRCm39) |
S162P |
possibly damaging |
Het |
| Spta1 |
C |
T |
1: 174,071,713 (GRCm39) |
T2231I |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,692,683 (GRCm39) |
D578E |
probably benign |
Het |
| Tacc2 |
A |
T |
7: 130,224,567 (GRCm39) |
E417D |
possibly damaging |
Het |
| Tas2r144 |
A |
T |
6: 42,192,280 (GRCm39) |
N7Y |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,676,277 (GRCm39) |
*421R |
probably null |
Het |
| Tigd5 |
A |
G |
15: 75,782,039 (GRCm39) |
I134V |
possibly damaging |
Het |
| Tmem95 |
A |
T |
11: 69,768,843 (GRCm39) |
M1K |
probably null |
Het |
| Trappc10 |
T |
C |
10: 78,024,728 (GRCm39) |
M1134V |
probably damaging |
Het |
| Unc45a |
T |
G |
7: 79,983,817 (GRCm39) |
K326N |
probably damaging |
Het |
| Vmn1r59 |
A |
G |
7: 5,457,463 (GRCm39) |
V99A |
probably benign |
Het |
| Vmn2r4 |
T |
C |
3: 64,322,519 (GRCm39) |
T67A |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,529 (GRCm39) |
M70K |
probably benign |
Het |
| Zftraf1 |
C |
A |
15: 76,531,930 (GRCm39) |
E283* |
probably null |
Het |
| Zkscan8 |
A |
G |
13: 21,704,748 (GRCm39) |
F325S |
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 |
|
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 |
|
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'- GAACCCACTTGAGAACAGGG -3'
(R):5'- GTCTCTTGACTGCATTAAGAGGG -3'
Sequencing Primer
(F):5'- ACTTGAGAACAGGGCCTCTC -3'
(R):5'- CTTGACTGCATTAAGAGGGGTTATC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation