Incidental Mutation 'IGL03367:Col8a2'
| ID |
420141 |
| 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: 0.340)
|
| Stock # |
IGL03367
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
126286793-126314330 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126312198 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 667
(D667G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070270
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070132]
[ENSMUST00000102617]
[ENSMUST00000128435]
|
| AlphaFold |
P25318 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000070132
AA Change: D667G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070270
Gene: ENSMUSG00000056174
AA Change: D667G
| 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: ENSMUST00000102617
|
| SMART Domains |
Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
27 |
N/A |
INTRINSIC |
|
Pfam:ADP_ribosyl_GH
|
31 |
344 |
1.5e-68 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128188
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151191
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030419C18Rik |
A |
G |
9: 58,499,098 (GRCm38) |
H97R |
probably damaging |
Het |
| Abcc5 |
A |
T |
16: 20,392,811 (GRCm38) |
|
probably benign |
Het |
| Adra1a |
G |
A |
14: 66,637,989 (GRCm38) |
V138I |
possibly damaging |
Het |
| Alpk3 |
A |
G |
7: 81,094,990 (GRCm38) |
I1278V |
probably benign |
Het |
| Asb6 |
A |
T |
2: 30,824,679 (GRCm38) |
I185N |
possibly damaging |
Het |
| Atg9a |
A |
G |
1: 75,187,957 (GRCm38) |
V121A |
probably benign |
Het |
| Cdc42bpb |
A |
G |
12: 111,336,159 (GRCm38) |
Y155H |
probably damaging |
Het |
| Ceacam15 |
A |
C |
7: 16,675,587 (GRCm38) |
S8A |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,737,238 (GRCm38) |
D615E |
probably benign |
Het |
| Cntn6 |
G |
T |
6: 104,804,338 (GRCm38) |
G462C |
probably damaging |
Het |
| Cyp2c29 |
A |
G |
19: 39,329,215 (GRCm38) |
K382E |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,940,308 (GRCm38) |
|
probably null |
Het |
| Dkk2 |
C |
T |
3: 132,178,077 (GRCm38) |
T246I |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,234,327 (GRCm38) |
L294P |
possibly damaging |
Het |
| Erbb2 |
G |
T |
11: 98,422,875 (GRCm38) |
|
probably null |
Het |
| Fn1 |
A |
G |
1: 71,597,553 (GRCm38) |
F2147L |
probably benign |
Het |
| Gm11149 |
G |
A |
9: 49,546,346 (GRCm38) |
|
probably benign |
Het |
| Gm13088 |
C |
T |
4: 143,655,623 (GRCm38) |
V168I |
possibly damaging |
Het |
| Gnrhr |
C |
T |
5: 86,182,331 (GRCm38) |
V277I |
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,120,393 (GRCm38) |
E129V |
possibly damaging |
Het |
| Hmgcr |
T |
C |
13: 96,665,853 (GRCm38) |
T108A |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 63,017,229 (GRCm38) |
I196N |
probably damaging |
Het |
| Kcnq5 |
T |
C |
1: 21,403,065 (GRCm38) |
K653E |
probably damaging |
Het |
| Lgi2 |
C |
A |
5: 52,562,160 (GRCm38) |
D100Y |
probably damaging |
Het |
| Mettl15 |
T |
A |
2: 109,131,571 (GRCm38) |
H231L |
probably benign |
Het |
| Mthfd1l |
A |
G |
10: 4,106,536 (GRCm38) |
|
probably benign |
Het |
| Pik3cg |
A |
G |
12: 32,192,121 (GRCm38) |
S997P |
probably benign |
Het |
| Pla2g1b |
T |
C |
5: 115,472,114 (GRCm38) |
C105R |
probably damaging |
Het |
| Ppil1 |
A |
T |
17: 29,252,244 (GRCm38) |
|
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,721,719 (GRCm38) |
T334A |
probably benign |
Het |
| Slc15a4 |
T |
C |
5: 127,601,941 (GRCm38) |
Y445C |
probably damaging |
Het |
| Sox14 |
A |
C |
9: 99,875,662 (GRCm38) |
I8S |
probably damaging |
Het |
| Spice1 |
A |
G |
16: 44,356,178 (GRCm38) |
T44A |
probably damaging |
Het |
| Sult3a1 |
G |
T |
10: 33,877,346 (GRCm38) |
V213L |
probably benign |
Het |
| Vkorc1l1 |
C |
A |
5: 129,982,307 (GRCm38) |
Y111* |
probably null |
Het |
| Wdr47 |
G |
T |
3: 108,629,773 (GRCm38) |
|
probably benign |
Het |
| Wdr90 |
A |
G |
17: 25,847,791 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Col8a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Col8a2
|
APN |
4 |
126,309,791 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01776:Col8a2
|
APN |
4 |
126,309,805 (GRCm38) |
unclassified |
probably benign |
|
|
R1861:Col8a2
|
UTSW |
4 |
126,311,624 (GRCm38) |
unclassified |
probably benign |
|
|
R1909:Col8a2
|
UTSW |
4 |
126,312,133 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R2038:Col8a2
|
UTSW |
4 |
126,311,315 (GRCm38) |
unclassified |
probably benign |
|
|
R2866:Col8a2
|
UTSW |
4 |
126,311,199 (GRCm38) |
unclassified |
probably benign |
|
|
R4013:Col8a2
|
UTSW |
4 |
126,311,115 (GRCm38) |
unclassified |
probably benign |
|
|
R4586:Col8a2
|
UTSW |
4 |
126,311,019 (GRCm38) |
unclassified |
probably benign |
|
|
R4995:Col8a2
|
UTSW |
4 |
126,310,788 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5160:Col8a2
|
UTSW |
4 |
126,310,412 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R5574:Col8a2
|
UTSW |
4 |
126,311,268 (GRCm38) |
unclassified |
probably benign |
|
|
R5858:Col8a2
|
UTSW |
4 |
126,311,300 (GRCm38) |
unclassified |
probably benign |
|
|
R6803:Col8a2
|
UTSW |
4 |
126,312,000 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8876:Col8a2
|
UTSW |
4 |
126,310,854 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9523:Col8a2
|
UTSW |
4 |
126,311,480 (GRCm38) |
missense |
unknown |
|
|
Z1177:Col8a2
|
UTSW |
4 |
126,311,543 (GRCm38) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation