Incidental Mutation 'R0853:P3h3'
| ID |
82612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P3h3
|
| Ensembl Gene |
ENSMUSG00000023191 |
| Gene Name |
prolyl 3-hydroxylase 3 |
| Synonyms |
Leprel2, Grcb |
| MMRRC Submission |
039032-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0853 (G1)
|
| Quality Score |
113 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124818052-124834680 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 124831896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 296
(D296E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116338
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023958]
[ENSMUST00000046893]
[ENSMUST00000135127]
[ENSMUST00000204667]
|
| AlphaFold |
Q8CG70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023958
AA Change: D296E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191
AA Change: D296E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
277 |
N/A |
INTRINSIC |
|
P4Hc
|
460 |
670 |
8.51e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046893
|
| SMART Domains |
Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
30 |
337 |
1.1e-19 |
PFAM |
|
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129225
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135127
AA Change: D296E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191
AA Change: D296E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149870
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204667
|
| SMART Domains |
Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
30 |
337 |
1.1e-19 |
PFAM |
|
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204161
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.9%
|
| Validation Efficiency |
93% (42/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the leprecan family of proteoglycans, which function as collagen prolyl hydroxylases that are required for proper collagen biosynthesis, folding and assembly. This protein, like other family members, is thought to reside in the endoplasmic reticulum. Epigenetic inactivation of this gene is associated with breast and other cancers, suggesting that it may function as a tumor suppressor. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit collagen fiber fragility in the skin. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amotl1 |
G |
T |
9: 14,504,074 (GRCm39) |
P378Q |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,780,847 (GRCm39) |
E365G |
probably damaging |
Het |
| Asb6 |
G |
A |
2: 30,717,042 (GRCm39) |
P61L |
possibly damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atxn7 |
C |
A |
14: 14,089,465 (GRCm38) |
|
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,522,664 (GRCm39) |
I290N |
probably damaging |
Het |
| Ccser2 |
A |
C |
14: 36,662,367 (GRCm39) |
S272R |
probably benign |
Het |
| Cfh |
T |
A |
1: 140,033,228 (GRCm39) |
H772L |
probably damaging |
Het |
| Cldn6 |
T |
G |
17: 23,900,438 (GRCm39) |
I134S |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,382,484 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
T |
C |
15: 84,932,726 (GRCm39) |
F156S |
possibly damaging |
Het |
| Fgd4 |
T |
A |
16: 16,292,251 (GRCm39) |
|
probably benign |
Het |
| Gckr |
G |
C |
5: 31,462,392 (GRCm39) |
A242P |
probably damaging |
Het |
| Gcnt4 |
A |
G |
13: 97,083,343 (GRCm39) |
D213G |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,779 (GRCm39) |
V237E |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,853,549 (GRCm39) |
L570P |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,107,495 (GRCm39) |
K827* |
probably null |
Het |
| Hyal6 |
T |
C |
6: 24,734,072 (GRCm39) |
F2L |
probably benign |
Het |
| Jak2 |
C |
A |
19: 29,262,326 (GRCm39) |
Y382* |
probably null |
Het |
| Kat8 |
C |
T |
7: 127,524,396 (GRCm39) |
H425Y |
probably benign |
Het |
| Kcnj3 |
T |
C |
2: 55,327,235 (GRCm39) |
F8S |
possibly damaging |
Het |
| Klk1 |
T |
A |
7: 43,870,922 (GRCm39) |
|
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,095,977 (GRCm39) |
Y205C |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,078,237 (GRCm39) |
E26G |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,909,132 (GRCm39) |
S781P |
probably benign |
Het |
| Nqo2 |
A |
T |
13: 34,163,560 (GRCm39) |
H73L |
probably benign |
Het |
| Pah |
G |
A |
10: 87,412,080 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
T |
G |
18: 37,442,938 (GRCm39) |
Y749* |
probably null |
Het |
| Pdgfrb |
C |
A |
18: 61,213,399 (GRCm39) |
N914K |
probably damaging |
Het |
| Ralyl |
A |
G |
3: 14,011,566 (GRCm39) |
Y4C |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,559,503 (GRCm39) |
I1052N |
probably damaging |
Het |
| Sdk2 |
G |
A |
11: 113,712,241 (GRCm39) |
T1642I |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,926,942 (GRCm39) |
T207M |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,564,827 (GRCm39) |
L148P |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Tdp1 |
G |
A |
12: 99,901,326 (GRCm39) |
R536H |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,599 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,324 (GRCm39) |
T302K |
probably damaging |
Het |
| Zfp1002 |
A |
T |
2: 150,097,398 (GRCm39) |
S38R |
probably benign |
Het |
|
| Other mutations in P3h3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:P3h3
|
APN |
6 |
124,822,552 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02158:P3h3
|
APN |
6 |
124,830,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02654:P3h3
|
APN |
6 |
124,822,228 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
P0040:P3h3
|
UTSW |
6 |
124,830,099 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0024:P3h3
|
UTSW |
6 |
124,834,421 (GRCm39) |
missense |
probably benign |
|
|
R0196:P3h3
|
UTSW |
6 |
124,822,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0328:P3h3
|
UTSW |
6 |
124,831,269 (GRCm39) |
unclassified |
probably benign |
|
|
R0589:P3h3
|
UTSW |
6 |
124,818,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0605:P3h3
|
UTSW |
6 |
124,832,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0793:P3h3
|
UTSW |
6 |
124,831,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0794:P3h3
|
UTSW |
6 |
124,831,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0795:P3h3
|
UTSW |
6 |
124,831,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0796:P3h3
|
UTSW |
6 |
124,831,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0854:P3h3
|
UTSW |
6 |
124,831,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0856:P3h3
|
UTSW |
6 |
124,831,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0893:P3h3
|
UTSW |
6 |
124,822,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1819:P3h3
|
UTSW |
6 |
124,831,895 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2100:P3h3
|
UTSW |
6 |
124,822,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4332:P3h3
|
UTSW |
6 |
124,819,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4461:P3h3
|
UTSW |
6 |
124,822,531 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4533:P3h3
|
UTSW |
6 |
124,831,371 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4829:P3h3
|
UTSW |
6 |
124,818,601 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4840:P3h3
|
UTSW |
6 |
124,827,600 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4962:P3h3
|
UTSW |
6 |
124,818,736 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5014:P3h3
|
UTSW |
6 |
124,832,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:P3h3
|
UTSW |
6 |
124,831,658 (GRCm39) |
unclassified |
probably benign |
|
|
R5691:P3h3
|
UTSW |
6 |
124,832,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5777:P3h3
|
UTSW |
6 |
124,832,921 (GRCm39) |
missense |
probably benign |
0.24 |
|
R5846:P3h3
|
UTSW |
6 |
124,834,157 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6212:P3h3
|
UTSW |
6 |
124,822,606 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6254:P3h3
|
UTSW |
6 |
124,822,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6320:P3h3
|
UTSW |
6 |
124,831,835 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6860:P3h3
|
UTSW |
6 |
124,834,331 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7385:P3h3
|
UTSW |
6 |
124,832,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7472:P3h3
|
UTSW |
6 |
124,827,594 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7617:P3h3
|
UTSW |
6 |
124,832,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7763:P3h3
|
UTSW |
6 |
124,831,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7831:P3h3
|
UTSW |
6 |
124,832,118 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8317:P3h3
|
UTSW |
6 |
124,832,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8436:P3h3
|
UTSW |
6 |
124,828,041 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8749:P3h3
|
UTSW |
6 |
124,822,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8944:P3h3
|
UTSW |
6 |
124,832,196 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8988:P3h3
|
UTSW |
6 |
124,834,564 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9508:P3h3
|
UTSW |
6 |
124,830,012 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0021:P3h3
|
UTSW |
6 |
124,832,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAAGGACACCATCCTGAAGCTGAG -3'
(R):5'- CCTGTATGAAGCCATTGCAGGTGAG -3'
Sequencing Primer
(F):5'- CCTGACAGTGAAATTAGCAATGC -3'
(R):5'- CCATTGCAGGTGAGGGAGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation