Incidental Mutation 'IGL01776:Col8a2'
ID |
153875 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Col8a2
|
Ensembl Gene |
ENSMUSG00000056174 |
Gene Name |
collagen, type VIII, alpha 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.407)
|
Stock # |
IGL01776
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
126180587-126208123 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to A
at 126203598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123003
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070132]
[ENSMUST00000128435]
|
AlphaFold |
P25318 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070132
|
SMART Domains |
Protein: ENSMUSP00000070270 Gene: ENSMUSG00000056174
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
low complexity region
|
25 |
33 |
N/A |
INTRINSIC |
low complexity region
|
60 |
69 |
N/A |
INTRINSIC |
low complexity region
|
72 |
105 |
N/A |
INTRINSIC |
Pfam:Collagen
|
116 |
168 |
1.2e-9 |
PFAM |
low complexity region
|
207 |
237 |
N/A |
INTRINSIC |
internal_repeat_1
|
240 |
259 |
1.3e-7 |
PROSPERO |
low complexity region
|
260 |
327 |
N/A |
INTRINSIC |
low complexity region
|
342 |
387 |
N/A |
INTRINSIC |
internal_repeat_1
|
388 |
407 |
1.3e-7 |
PROSPERO |
low complexity region
|
408 |
429 |
N/A |
INTRINSIC |
low complexity region
|
440 |
459 |
N/A |
INTRINSIC |
low complexity region
|
471 |
530 |
N/A |
INTRINSIC |
low complexity region
|
545 |
557 |
N/A |
INTRINSIC |
C1Q
|
564 |
699 |
2.44e-78 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128435
|
SMART Domains |
Protein: ENSMUSP00000123003 Gene: ENSMUSG00000056174
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
low complexity region
|
25 |
33 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] PHENOTYPE: Mice homozygous for a knock-out allele exhibit a thinner Descemet's membrane of the cornea. Mice heterozygous or homozygous for an ENU-induced mutation exhibit thin cornea, corneal epithelium, stroma, and Descemet membrane, and enlarged anterior chamber. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
G |
A |
5: 90,431,223 (GRCm39) |
Q854* |
probably null |
Het |
Armc8 |
A |
G |
9: 99,408,936 (GRCm39) |
|
probably benign |
Het |
Chrna7 |
A |
G |
7: 62,749,267 (GRCm39) |
V405A |
probably benign |
Het |
Dcn |
A |
G |
10: 97,330,938 (GRCm39) |
I91V |
possibly damaging |
Het |
Dock7 |
T |
A |
4: 98,829,178 (GRCm39) |
R2069S |
possibly damaging |
Het |
Gm7247 |
A |
G |
14: 51,759,356 (GRCm39) |
S112G |
possibly damaging |
Het |
Hmcn1 |
T |
G |
1: 150,547,789 (GRCm39) |
T2721P |
possibly damaging |
Het |
Hsd3b3 |
T |
C |
3: 98,651,163 (GRCm39) |
T96A |
probably benign |
Het |
Ifi207 |
G |
A |
1: 173,552,610 (GRCm39) |
L936F |
probably damaging |
Het |
Kcp |
G |
A |
6: 29,497,907 (GRCm39) |
P477S |
probably damaging |
Het |
Mei1 |
T |
C |
15: 81,980,133 (GRCm39) |
|
probably null |
Het |
Mgmt |
T |
A |
7: 136,723,293 (GRCm39) |
L121* |
probably null |
Het |
Mrps35 |
G |
A |
6: 146,972,214 (GRCm39) |
V286I |
probably benign |
Het |
Naxd |
T |
C |
8: 11,555,525 (GRCm39) |
|
probably null |
Het |
Pam |
A |
G |
1: 97,813,325 (GRCm39) |
|
probably null |
Het |
Plcxd1 |
G |
A |
5: 110,249,246 (GRCm39) |
|
probably benign |
Het |
Rasgrp1 |
A |
G |
2: 117,117,321 (GRCm39) |
|
probably null |
Het |
Spag9 |
C |
T |
11: 94,007,553 (GRCm39) |
|
probably benign |
Het |
Spire2 |
T |
C |
8: 124,086,131 (GRCm39) |
S288P |
probably damaging |
Het |
Stk11ip |
T |
C |
1: 75,504,465 (GRCm39) |
V322A |
probably benign |
Het |
Syt17 |
A |
C |
7: 118,009,176 (GRCm39) |
L343R |
probably damaging |
Het |
Tap1 |
G |
A |
17: 34,412,102 (GRCm39) |
V436I |
possibly damaging |
Het |
Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
|
Other mutations in Col8a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00952:Col8a2
|
APN |
4 |
126,203,584 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03367:Col8a2
|
APN |
4 |
126,205,991 (GRCm39) |
missense |
probably damaging |
1.00 |
R1861:Col8a2
|
UTSW |
4 |
126,205,417 (GRCm39) |
unclassified |
probably benign |
|
R1909:Col8a2
|
UTSW |
4 |
126,205,926 (GRCm39) |
missense |
possibly damaging |
0.63 |
R2038:Col8a2
|
UTSW |
4 |
126,205,108 (GRCm39) |
unclassified |
probably benign |
|
R2866:Col8a2
|
UTSW |
4 |
126,204,992 (GRCm39) |
unclassified |
probably benign |
|
R4013:Col8a2
|
UTSW |
4 |
126,204,908 (GRCm39) |
unclassified |
probably benign |
|
R4586:Col8a2
|
UTSW |
4 |
126,204,812 (GRCm39) |
unclassified |
probably benign |
|
R4995:Col8a2
|
UTSW |
4 |
126,204,581 (GRCm39) |
missense |
probably damaging |
0.98 |
R5160:Col8a2
|
UTSW |
4 |
126,204,205 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5574:Col8a2
|
UTSW |
4 |
126,205,061 (GRCm39) |
unclassified |
probably benign |
|
R5858:Col8a2
|
UTSW |
4 |
126,205,093 (GRCm39) |
unclassified |
probably benign |
|
R6803:Col8a2
|
UTSW |
4 |
126,205,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R8876:Col8a2
|
UTSW |
4 |
126,204,647 (GRCm39) |
missense |
probably damaging |
0.96 |
R9523:Col8a2
|
UTSW |
4 |
126,205,273 (GRCm39) |
missense |
unknown |
|
Z1177:Col8a2
|
UTSW |
4 |
126,205,336 (GRCm39) |
missense |
unknown |
|
|
Posted On |
2014-02-04 |