Incidental Mutation 'R6632:P4ha2'
| ID |
525240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P4ha2
|
| Ensembl Gene |
ENSMUSG00000018906 |
| Gene Name |
procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha II polypeptide |
| Synonyms |
P4hl |
| MMRRC Submission |
044754-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.340)
|
| Stock # |
R6632 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
54100095-54131665 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 54117648 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 227
(R227L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019050]
[ENSMUST00000093107]
[ENSMUST00000138477]
[ENSMUST00000141258]
[ENSMUST00000151218]
[ENSMUST00000174616]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019050
AA Change: R227L
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000019050
Gene: ENSMUSG00000018906
AA Change: R227L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:P4Ha_N
|
28 |
159 |
2.6e-40 |
PFAM |
|
SCOP:d1qqea_
|
171 |
258 |
1e-3 |
SMART |
|
Blast:P4Hc
|
232 |
303 |
4e-13 |
BLAST |
|
P4Hc
|
338 |
521 |
1.61e-67 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093107
AA Change: R227L
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000091749
Gene: ENSMUSG00000018906
AA Change: R227L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:P4Ha_N
|
27 |
160 |
6.3e-44 |
PFAM |
|
SCOP:d1qqea_
|
171 |
258 |
1e-3 |
SMART |
|
P4Hc
|
338 |
519 |
7.67e-65 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125651
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138477
|
| SMART Domains |
Protein: ENSMUSP00000121119
Gene: ENSMUSG00000018906
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:P4Ha_N
|
27 |
158 |
3.1e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141258
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151218
|
| SMART Domains |
Protein: ENSMUSP00000118384
Gene: ENSMUSG00000018906
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:P4Ha_N
|
27 |
128 |
6e-30 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155299
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174616
AA Change: R227L
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133275
Gene: ENSMUSG00000018906
AA Change: R227L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Pfam:P4Ha_N
|
27 |
160 |
6.3e-44 |
PFAM |
|
SCOP:d1qqea_
|
171 |
258 |
1e-3 |
SMART |
|
P4Hc
|
338 |
519 |
7.67e-65 |
SMART |
|
| Meta Mutation Damage Score |
0.2306 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,281,067 (GRCm38) |
S758P |
possibly damaging |
Het |
| Abca3 |
C |
G |
17: 24,384,470 (GRCm38) |
D545E |
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,013,842 (GRCm38) |
|
probably null |
Het |
| Akr1b3 |
C |
T |
6: 34,310,004 (GRCm38) |
V206M |
possibly damaging |
Het |
| Arpp21 |
G |
A |
9: 112,127,356 (GRCm38) |
Q518* |
probably null |
Het |
| Atp9b |
G |
A |
18: 80,808,649 (GRCm38) |
R410W |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 28,905,265 (GRCm38) |
*265W |
probably null |
Het |
| Ccdc96 |
G |
A |
5: 36,485,189 (GRCm38) |
E180K |
probably benign |
Het |
| Cep164 |
T |
C |
9: 45,779,790 (GRCm38) |
K1231E |
possibly damaging |
Het |
| Cnot1 |
A |
G |
8: 95,773,267 (GRCm38) |
|
probably benign |
Het |
| Cpne2 |
T |
C |
8: 94,554,955 (GRCm38) |
V206A |
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,761,878 (GRCm38) |
Y1647H |
probably damaging |
Het |
| Dnaaf5 |
A |
G |
5: 139,170,333 (GRCm38) |
T590A |
probably benign |
Het |
| Eif4g1 |
A |
T |
16: 20,685,520 (GRCm38) |
I1068F |
probably damaging |
Het |
| Ephb4 |
A |
T |
5: 137,366,587 (GRCm38) |
K639N |
probably damaging |
Het |
| Gcc2 |
A |
G |
10: 58,270,049 (GRCm38) |
|
probably null |
Het |
| Gm35315 |
A |
C |
5: 110,079,263 (GRCm38) |
Y103* |
probably null |
Het |
| Hsd17b4 |
A |
G |
18: 50,179,102 (GRCm38) |
K578R |
possibly damaging |
Het |
| Ice2 |
T |
C |
9: 69,428,452 (GRCm38) |
S906P |
probably benign |
Het |
| Irx4 |
G |
T |
13: 73,268,426 (GRCm38) |
A314S |
probably benign |
Het |
| Lama5 |
G |
A |
2: 180,191,662 (GRCm38) |
P1519L |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,725,442 (GRCm38) |
W3650R |
probably benign |
Het |
| Mcoln3 |
C |
T |
3: 146,128,187 (GRCm38) |
H161Y |
probably benign |
Het |
| Mphosph10 |
A |
T |
7: 64,385,819 (GRCm38) |
M368K |
probably damaging |
Het |
| Msh2 |
A |
C |
17: 87,712,666 (GRCm38) |
K567Q |
possibly damaging |
Het |
| N4bp3 |
T |
C |
11: 51,643,949 (GRCm38) |
E429G |
possibly damaging |
Het |
| Nrxn3 |
G |
A |
12: 89,193,154 (GRCm38) |
A17T |
probably damaging |
Het |
| Olfr1459 |
T |
A |
19: 13,146,188 (GRCm38) |
Y157F |
probably benign |
Het |
| Olfr171 |
T |
C |
16: 19,625,023 (GRCm38) |
T26A |
probably benign |
Het |
| Pfkfb4 |
G |
A |
9: 109,009,562 (GRCm38) |
|
probably null |
Het |
| Ror1 |
A |
G |
4: 100,442,106 (GRCm38) |
N892S |
probably benign |
Het |
| Scn9a |
G |
T |
2: 66,483,502 (GRCm38) |
D1957E |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,713,649 (GRCm38) |
Y713* |
probably null |
Het |
| Serpinb1b |
T |
A |
13: 33,087,455 (GRCm38) |
F70I |
probably damaging |
Het |
| Setdb1 |
T |
C |
3: 95,324,149 (GRCm38) |
Y1284C |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,828,240 (GRCm38) |
M1030K |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,215,667 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in P4ha2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01101:P4ha2
|
APN |
11 |
54,119,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01324:P4ha2
|
APN |
11 |
54,120,158 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01953:P4ha2
|
APN |
11 |
54,114,170 (GRCm38) |
missense |
probably benign |
0.07 |
|
IGL02053:P4ha2
|
APN |
11 |
54,117,587 (GRCm38) |
missense |
probably benign |
|
|
FR4342:P4ha2
|
UTSW |
11 |
54,110,251 (GRCm38) |
small deletion |
probably benign |
|
|
R0471:P4ha2
|
UTSW |
11 |
54,117,608 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R0938:P4ha2
|
UTSW |
11 |
54,119,322 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R1467:P4ha2
|
UTSW |
11 |
54,106,410 (GRCm38) |
intron |
probably benign |
|
|
R1517:P4ha2
|
UTSW |
11 |
54,117,645 (GRCm38) |
missense |
probably benign |
|
|
R1556:P4ha2
|
UTSW |
11 |
54,125,010 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3498:P4ha2
|
UTSW |
11 |
54,119,253 (GRCm38) |
missense |
probably benign |
0.28 |
|
R3916:P4ha2
|
UTSW |
11 |
54,126,248 (GRCm38) |
missense |
probably benign |
0.07 |
|
R4853:P4ha2
|
UTSW |
11 |
54,120,170 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4932:P4ha2
|
UTSW |
11 |
54,125,020 (GRCm38) |
missense |
probably benign |
0.05 |
|
R5020:P4ha2
|
UTSW |
11 |
54,131,190 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5892:P4ha2
|
UTSW |
11 |
54,120,188 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5975:P4ha2
|
UTSW |
11 |
54,126,412 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7023:P4ha2
|
UTSW |
11 |
54,131,246 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7068:P4ha2
|
UTSW |
11 |
54,110,994 (GRCm38) |
missense |
probably benign |
0.03 |
|
R8963:P4ha2
|
UTSW |
11 |
54,114,169 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9215:P4ha2
|
UTSW |
11 |
54,126,400 (GRCm38) |
missense |
probably benign |
0.27 |
|
R9224:P4ha2
|
UTSW |
11 |
54,119,137 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R9336:P4ha2
|
UTSW |
11 |
54,111,564 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R9582:P4ha2
|
UTSW |
11 |
54,131,239 (GRCm38) |
nonsense |
probably null |
|
|
RF001:P4ha2
|
UTSW |
11 |
54,110,235 (GRCm38) |
small deletion |
probably benign |
|
|
RF018:P4ha2
|
UTSW |
11 |
54,110,246 (GRCm38) |
frame shift |
probably null |
|
|
RF035:P4ha2
|
UTSW |
11 |
54,110,235 (GRCm38) |
small deletion |
probably benign |
|
|
RF043:P4ha2
|
UTSW |
11 |
54,110,250 (GRCm38) |
frame shift |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTCAGGCACAAAGTACCAG -3'
(R):5'- GAGGAGTGTGTATAAGAAGCTACTC -3'
Sequencing Primer
(F):5'- AGTACCAGGCCATGCTGAGTG -3'
(R):5'- AGAAGCTACTCGGTGATTAAAAATC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation