Incidental Mutation 'R3936:P4hb'
| ID |
307183 |
| 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 # |
R3936 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
120451124-120464079 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 120453235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 440
(H440Q)
|
| 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: H440Q
PolyPhen 2
Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000026122
Gene: ENSMUSG00000025130
AA Change: H440Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000166620
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168360
AA Change: H96Q
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000128796
Gene: ENSMUSG00000025130
AA Change: H96Q
| 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: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
| Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,715,819 (GRCm39) |
K491* |
probably null |
Het |
| Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
| Axdnd1 |
T |
C |
1: 156,159,209 (GRCm39) |
N203S |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Btnl6 |
T |
A |
17: 34,736,316 (GRCm39) |
H4L |
probably benign |
Het |
| Dync2h1 |
C |
A |
9: 7,001,482 (GRCm39) |
L3835F |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,371,065 (GRCm39) |
|
probably null |
Het |
| G6pc1 |
A |
G |
11: 101,265,429 (GRCm39) |
I154V |
probably benign |
Het |
| Golgb1 |
G |
T |
16: 36,734,418 (GRCm39) |
E1222* |
probably null |
Het |
| Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
| Gzmk |
A |
T |
13: 113,309,559 (GRCm39) |
S164T |
probably damaging |
Het |
| Il22ra2 |
T |
A |
10: 19,507,456 (GRCm39) |
S156R |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
| Mc3r |
T |
A |
2: 172,091,216 (GRCm39) |
I146N |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
| Or13c7b |
T |
A |
4: 43,821,359 (GRCm39) |
M1L |
probably benign |
Het |
| Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
| Rptn |
A |
C |
3: 93,302,883 (GRCm39) |
H72P |
possibly damaging |
Het |
| Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
| Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
| Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,427,193 (GRCm39) |
|
probably benign |
Het |
| Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
| Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
| Tlr11 |
A |
G |
14: 50,600,192 (GRCm39) |
E726G |
possibly damaging |
Het |
| Treh |
C |
T |
9: 44,595,840 (GRCm39) |
R342W |
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 |
|
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'- TCTTAAAACCGTCCAGTGTCCG -3'
(R):5'- AACCTCAAACGTCGGTGGTG -3'
Sequencing Primer
(F):5'- GCTCGCCGTTGTAATCAATGAC -3'
(R):5'- TGGTGGCTCTGTCCAGGAC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation