Incidental Mutation 'R2697:P3h1'
| ID |
251155 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
P3h1
|
| Ensembl Gene |
ENSMUSG00000028641 |
| Gene Name |
prolyl 3-hydroxylase 1 |
| Synonyms |
2410024C15Rik, Lepre1, Leprecan, Gros1 |
| MMRRC Submission |
040435-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2697 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
119090112-119106172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119104377 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 633
(T633A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112504
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030393]
[ENSMUST00000081606]
[ENSMUST00000102662]
[ENSMUST00000121111]
[ENSMUST00000136278]
|
| AlphaFold |
Q3V1T4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030393
AA Change: T640A
PolyPhen 2
Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000030393
Gene: ENSMUSG00000028641
AA Change: T640A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
127 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
136 |
213 |
2.49e-12 |
PROSPERO |
|
internal_repeat_1
|
294 |
369 |
2.49e-12 |
PROSPERO |
|
Blast:P4Hc
|
419 |
462 |
2e-14 |
BLAST |
|
P4Hc
|
479 |
687 |
5.96e-53 |
SMART |
|
low complexity region
|
714 |
725 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081606
AA Change: T454A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080312
Gene: ENSMUSG00000028641
AA Change: T454A
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1hxia_
|
80 |
195 |
4e-5 |
SMART |
|
Blast:P4Hc
|
125 |
206 |
2e-11 |
BLAST |
|
Blast:P4Hc
|
233 |
276 |
1e-14 |
BLAST |
|
P4Hc
|
293 |
501 |
5.96e-53 |
SMART |
|
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000102662
AA Change: T633A
PolyPhen 2
Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000099723
Gene: ENSMUSG00000028641
AA Change: T633A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
127 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
136 |
213 |
1.9e-12 |
PROSPERO |
|
internal_repeat_1
|
294 |
369 |
1.9e-12 |
PROSPERO |
|
Blast:P4Hc
|
412 |
455 |
2e-14 |
BLAST |
|
P4Hc
|
472 |
680 |
5.96e-53 |
SMART |
|
low complexity region
|
707 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121111
AA Change: T633A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112504
Gene: ENSMUSG00000028641
AA Change: T633A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
127 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
136 |
213 |
2.32e-12 |
PROSPERO |
|
internal_repeat_1
|
294 |
369 |
2.32e-12 |
PROSPERO |
|
Blast:P4Hc
|
412 |
455 |
2e-14 |
BLAST |
|
P4Hc
|
472 |
680 |
5.96e-53 |
SMART |
|
low complexity region
|
707 |
718 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123963
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127087
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134548
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142361
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153940
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136278
|
| SMART Domains |
Protein: ENSMUSP00000119695
Gene: ENSMUSG00000028641
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
low complexity region
|
60 |
84 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
127 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
136 |
198 |
6.76e-13 |
PROSPERO |
|
internal_repeat_1
|
294 |
356 |
6.76e-13 |
PROSPERO |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that is a member of the collagen prolyl hydroxylase family. These enzymes are localized to the endoplasmic reticulum and their activity is required for proper collagen synthesis and assembly. Mutations in this gene are associated with osteogenesis imperfecta type VIII. Three alternatively spliced transcript variants encoding different isoforms have been described. Other variants may exist, but their biological validity has not been determined. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced size, disproportional reduction in long bone length, decreased bone density, decreased bone mineral density, reduced body fat, delayed ossification, and abnormal collagen networks in the skin and tendons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630073D07Rik |
T |
C |
6: 132,603,619 (GRCm39) |
S46G |
unknown |
Het |
| Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
| Adam7 |
A |
T |
14: 68,752,232 (GRCm39) |
C417* |
probably null |
Het |
| Adgrl4 |
A |
C |
3: 151,216,260 (GRCm39) |
Q481P |
probably damaging |
Het |
| Adra2c |
C |
A |
5: 35,438,042 (GRCm39) |
N271K |
probably benign |
Het |
| Ahctf1 |
T |
C |
1: 179,580,097 (GRCm39) |
K2035R |
probably damaging |
Het |
| Ano3 |
T |
C |
2: 110,625,305 (GRCm39) |
T182A |
possibly damaging |
Het |
| Armc3 |
T |
C |
2: 19,308,746 (GRCm39) |
Y805H |
probably damaging |
Het |
| BC024139 |
TCCACCACCACCACCACCAC |
TCCACCACCACCACCAC |
15: 76,004,393 (GRCm39) |
|
probably benign |
Het |
| Cabp7 |
C |
T |
11: 4,688,837 (GRCm39) |
R211H |
probably damaging |
Het |
| Ccdc117 |
T |
C |
11: 5,484,888 (GRCm39) |
N112S |
possibly damaging |
Het |
| Cep120 |
C |
T |
18: 53,873,197 (GRCm39) |
D45N |
probably benign |
Het |
| Cpsf1 |
T |
C |
15: 76,483,529 (GRCm39) |
Y872C |
probably damaging |
Het |
| Cradd |
A |
G |
10: 95,011,807 (GRCm39) |
L111P |
probably damaging |
Het |
| Crhr2 |
A |
G |
6: 55,079,815 (GRCm39) |
L155P |
probably damaging |
Het |
| Fgd2 |
A |
T |
17: 29,595,895 (GRCm39) |
T518S |
probably damaging |
Het |
| Gpam |
C |
T |
19: 55,071,641 (GRCm39) |
E367K |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,243,126 (GRCm39) |
N1826I |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,549,656 (GRCm39) |
E357G |
probably damaging |
Het |
| Krt1 |
T |
A |
15: 101,755,364 (GRCm39) |
D465V |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,572,466 (GRCm39) |
V407E |
probably benign |
Het |
| Macrod1 |
T |
C |
19: 7,174,157 (GRCm39) |
V221A |
probably damaging |
Het |
| Mbd1 |
T |
C |
18: 74,406,688 (GRCm39) |
S144P |
possibly damaging |
Het |
| Mtfmt |
T |
C |
9: 65,359,303 (GRCm39) |
V326A |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,902,517 (GRCm39) |
D71G |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,493,274 (GRCm39) |
Y705C |
probably damaging |
Het |
| Nudt9 |
T |
C |
5: 104,212,859 (GRCm39) |
W311R |
probably damaging |
Het |
| Or11g27 |
C |
T |
14: 50,771,238 (GRCm39) |
A123V |
probably damaging |
Het |
| Or2a57 |
A |
T |
6: 43,213,060 (GRCm39) |
I173F |
probably damaging |
Het |
| Or2h15 |
A |
G |
17: 38,441,900 (GRCm39) |
F61S |
probably damaging |
Het |
| Or6c65 |
G |
A |
10: 129,603,793 (GRCm39) |
V143I |
probably benign |
Het |
| Osbp2 |
A |
T |
11: 3,813,407 (GRCm39) |
L154Q |
probably benign |
Het |
| Polq |
T |
G |
16: 36,862,515 (GRCm39) |
L616R |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,429 (GRCm39) |
L197S |
possibly damaging |
Het |
| Rap1gds1 |
C |
T |
3: 138,689,482 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rfng |
C |
A |
11: 120,674,865 (GRCm39) |
|
probably benign |
Het |
| Rps6ka2 |
T |
G |
17: 7,567,721 (GRCm39) |
L728R |
probably benign |
Het |
| Slc41a3 |
C |
A |
6: 90,619,302 (GRCm39) |
N360K |
possibly damaging |
Het |
| Sult1e1 |
T |
C |
5: 87,726,397 (GRCm39) |
N239S |
probably damaging |
Het |
| Tacr1 |
T |
A |
6: 82,469,578 (GRCm39) |
I154N |
probably damaging |
Het |
| Tacstd2 |
T |
A |
6: 67,512,203 (GRCm39) |
H163L |
probably benign |
Het |
| Tent5a |
T |
C |
9: 85,206,793 (GRCm39) |
D335G |
possibly damaging |
Het |
| Tiam1 |
T |
C |
16: 89,590,052 (GRCm39) |
S1382G |
probably benign |
Het |
| Tmem43 |
A |
G |
6: 91,456,911 (GRCm39) |
E164G |
possibly damaging |
Het |
| U2af2 |
G |
A |
7: 5,070,545 (GRCm39) |
R78H |
probably benign |
Het |
| Yipf7 |
T |
A |
5: 69,698,483 (GRCm39) |
D8V |
possibly damaging |
Het |
| Zfp58 |
G |
A |
13: 67,639,124 (GRCm39) |
H456Y |
probably damaging |
Het |
| Zfp799 |
G |
A |
17: 33,039,214 (GRCm39) |
R351* |
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,553,016 (GRCm39) |
D715G |
probably damaging |
Het |
|
| Other mutations in P3h1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01622:P3h1
|
APN |
4 |
119,092,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01623:P3h1
|
APN |
4 |
119,092,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01645:P3h1
|
APN |
4 |
119,093,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02140:P3h1
|
APN |
4 |
119,095,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02415:P3h1
|
APN |
4 |
119,105,152 (GRCm39) |
missense |
probably benign |
|
|
IGL02543:P3h1
|
APN |
4 |
119,095,053 (GRCm39) |
splice site |
probably benign |
|
|
IGL02870:P3h1
|
APN |
4 |
119,104,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02972:P3h1
|
APN |
4 |
119,105,157 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL03067:P3h1
|
APN |
4 |
119,092,477 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03077:P3h1
|
APN |
4 |
119,093,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
woohoo
|
UTSW |
4 |
119,098,329 (GRCm39) |
nonsense |
probably null |
|
|
R0194:P3h1
|
UTSW |
4 |
119,095,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:P3h1
|
UTSW |
4 |
119,098,727 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0734:P3h1
|
UTSW |
4 |
119,095,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0944:P3h1
|
UTSW |
4 |
119,095,956 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1018:P3h1
|
UTSW |
4 |
119,095,104 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1978:P3h1
|
UTSW |
4 |
119,105,173 (GRCm39) |
missense |
probably null |
0.00 |
|
R5668:P3h1
|
UTSW |
4 |
119,101,243 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5750:P3h1
|
UTSW |
4 |
119,095,863 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5965:P3h1
|
UTSW |
4 |
119,105,424 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5987:P3h1
|
UTSW |
4 |
119,103,862 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:P3h1
|
UTSW |
4 |
119,098,329 (GRCm39) |
nonsense |
probably null |
|
|
R6786:P3h1
|
UTSW |
4 |
119,095,151 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7142:P3h1
|
UTSW |
4 |
119,104,358 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8068:P3h1
|
UTSW |
4 |
119,094,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:P3h1
|
UTSW |
4 |
119,104,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:P3h1
|
UTSW |
4 |
119,094,008 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9680:P3h1
|
UTSW |
4 |
119,090,428 (GRCm39) |
missense |
probably benign |
0.17 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGGGTTTGACACAAAGG -3'
(R):5'- GGAGAGCTATCATATCCCAAAGC -3'
Sequencing Primer
(F):5'- CTGGGTTTGACACAAAGGTATGC -3'
(R):5'- GCTATCATATCCCAAAGCCCCTGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation