Incidental Mutation 'R0045:Htra1'
| ID |
15601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Htra1
|
| Ensembl Gene |
ENSMUSG00000006205 |
| Gene Name |
HtrA serine peptidase 1 |
| Synonyms |
Prss11, insulin-like growth factor binding protein 5 protease, RSPP11, L56, HtrA1 |
| MMRRC Submission |
038339-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0045 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
130537933-130587388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130563262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 164
(S164R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006367
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006367]
[ENSMUST00000124096]
|
| AlphaFold |
Q9R118 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006367
AA Change: S164R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006367
Gene: ENSMUSG00000006205
AA Change: S164R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
IB
|
35 |
112 |
2.49e-24 |
SMART |
|
KAZAL
|
109 |
155 |
4.28e-13 |
SMART |
|
Pfam:Trypsin
|
192 |
364 |
3.5e-17 |
PFAM |
|
Pfam:Trypsin_2
|
204 |
342 |
3.1e-35 |
PFAM |
|
PDZ
|
381 |
466 |
7.48e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153290
|
| Meta Mutation Damage Score |
0.0882 |
| Coding Region Coverage |
- 1x: 81.3%
- 3x: 72.5%
- 10x: 50.2%
- 20x: 29.9%
|
| Validation Efficiency |
92% (56/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal morphology. Mice homozygous for a different allele exhibit increased bone volume and increased trabecular bone thickness without body weight gain. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl1 |
T |
C |
7: 76,348,588 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
C |
7: 81,115,941 (GRCm39) |
D650G |
possibly damaging |
Het |
| Arhgap30 |
A |
G |
1: 171,235,998 (GRCm39) |
S791G |
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,594,498 (GRCm39) |
R1198* |
probably null |
Het |
| Atf2 |
G |
T |
2: 73,660,200 (GRCm39) |
T189N |
probably benign |
Het |
| Atf7ip |
A |
G |
6: 136,536,814 (GRCm39) |
K16E |
probably damaging |
Het |
| C8a |
T |
C |
4: 104,684,012 (GRCm39) |
K368E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,366,757 (GRCm39) |
Y241C |
probably damaging |
Het |
| Cdon |
G |
A |
9: 35,398,103 (GRCm39) |
S940N |
probably benign |
Het |
| Cds2 |
G |
T |
2: 132,147,075 (GRCm39) |
G402V |
possibly damaging |
Het |
| Cog6 |
T |
C |
3: 52,900,171 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
C |
3: 106,478,133 (GRCm39) |
V155A |
possibly damaging |
Het |
| Exoc3l |
C |
T |
8: 106,020,317 (GRCm39) |
V203M |
probably damaging |
Het |
| Fsip1 |
C |
A |
2: 118,078,773 (GRCm39) |
|
probably null |
Het |
| Kcnq4 |
T |
A |
4: 120,555,152 (GRCm39) |
D677V |
probably damaging |
Het |
| Lcn5 |
T |
C |
2: 25,550,710 (GRCm39) |
S133P |
probably damaging |
Het |
| Liph |
T |
C |
16: 21,786,803 (GRCm39) |
Y271C |
probably damaging |
Het |
| Lpcat3 |
T |
C |
6: 124,678,437 (GRCm39) |
I228T |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Pcsk6 |
T |
A |
7: 65,612,676 (GRCm39) |
C315S |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,029,122 (GRCm39) |
H398R |
possibly damaging |
Het |
| Rpgrip1 |
A |
T |
14: 52,378,601 (GRCm39) |
T509S |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,622 (GRCm39) |
I1032T |
probably damaging |
Het |
| Tecta |
G |
A |
9: 42,286,487 (GRCm39) |
T723I |
probably damaging |
Het |
| Trpv4 |
A |
G |
5: 114,774,518 (GRCm39) |
S189P |
probably benign |
Het |
| Vac14 |
G |
A |
8: 111,363,584 (GRCm39) |
D340N |
probably benign |
Het |
| Vars1 |
A |
T |
17: 35,229,595 (GRCm39) |
H404L |
probably damaging |
Het |
| Vps13a |
A |
T |
19: 16,618,174 (GRCm39) |
L693* |
probably null |
Het |
|
| Other mutations in Htra1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02090:Htra1
|
APN |
7 |
130,538,108 (GRCm39) |
missense |
probably benign |
|
|
IGL02500:Htra1
|
APN |
7 |
130,586,704 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02708:Htra1
|
APN |
7 |
130,563,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03341:Htra1
|
APN |
7 |
130,583,444 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0045:Htra1
|
UTSW |
7 |
130,563,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Htra1
|
UTSW |
7 |
130,581,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0681:Htra1
|
UTSW |
7 |
130,581,027 (GRCm39) |
intron |
probably benign |
|
|
R0963:Htra1
|
UTSW |
7 |
130,584,009 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1244:Htra1
|
UTSW |
7 |
130,586,799 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1892:Htra1
|
UTSW |
7 |
130,586,799 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2279:Htra1
|
UTSW |
7 |
130,563,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Htra1
|
UTSW |
7 |
130,538,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4774:Htra1
|
UTSW |
7 |
130,586,756 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4880:Htra1
|
UTSW |
7 |
130,563,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4909:Htra1
|
UTSW |
7 |
130,586,802 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5183:Htra1
|
UTSW |
7 |
130,585,446 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R5819:Htra1
|
UTSW |
7 |
130,583,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Htra1
|
UTSW |
7 |
130,563,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6709:Htra1
|
UTSW |
7 |
130,537,948 (GRCm39) |
intron |
probably benign |
|
|
R6845:Htra1
|
UTSW |
7 |
130,538,021 (GRCm39) |
intron |
probably benign |
|
|
R9332:Htra1
|
UTSW |
7 |
130,563,851 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2012-12-21 |
Incidental Mutation