Incidental Mutation 'IGL02162:Col9a2'
ID |
282526 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Col9a2
|
Ensembl Gene |
ENSMUSG00000028626 |
Gene Name |
collagen, type IX, alpha 2 |
Synonyms |
Col9a-2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02162
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
120896763-120912522 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 120911531 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053900
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030372]
[ENSMUST00000058754]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030372
|
SMART Domains |
Protein: ENSMUSP00000030372 Gene: ENSMUSG00000028626
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Pfam:Collagen
|
24 |
82 |
7.3e-12 |
PFAM |
Pfam:Collagen
|
59 |
115 |
2.4e-10 |
PFAM |
Pfam:Collagen
|
113 |
170 |
2e-8 |
PFAM |
Pfam:Collagen
|
176 |
236 |
8.9e-11 |
PFAM |
low complexity region
|
258 |
277 |
N/A |
INTRINSIC |
low complexity region
|
288 |
315 |
N/A |
INTRINSIC |
Pfam:Collagen
|
357 |
435 |
4.4e-8 |
PFAM |
Pfam:Collagen
|
459 |
523 |
6.1e-11 |
PFAM |
Pfam:Collagen
|
548 |
610 |
4.5e-11 |
PFAM |
low complexity region
|
639 |
661 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000058754
|
SMART Domains |
Protein: ENSMUSP00000053900 Gene: ENSMUSG00000043207
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M48_N
|
41 |
225 |
2.5e-70 |
PFAM |
Pfam:Peptidase_M48
|
228 |
473 |
5.5e-75 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140119
|
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 one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang5 |
T |
C |
14: 44,199,966 (GRCm39) |
L10S |
probably damaging |
Het |
Cdk5rap1 |
T |
C |
2: 154,177,489 (GRCm39) |
T577A |
probably damaging |
Het |
Clca3a1 |
G |
T |
3: 144,460,564 (GRCm39) |
P297T |
probably damaging |
Het |
Ctss |
A |
G |
3: 95,454,132 (GRCm39) |
K227R |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,094,230 (GRCm39) |
R2902Q |
probably benign |
Het |
Dnah10 |
G |
T |
5: 124,881,810 (GRCm39) |
A2862S |
probably damaging |
Het |
Elp1 |
A |
G |
4: 56,796,502 (GRCm39) |
|
probably null |
Het |
Fbxw5 |
C |
A |
2: 25,393,283 (GRCm39) |
Q16K |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,774,660 (GRCm39) |
C78Y |
probably damaging |
Het |
Gm20547 |
T |
A |
17: 35,076,003 (GRCm39) |
Y688F |
possibly damaging |
Het |
Gpaa1 |
T |
C |
15: 76,216,353 (GRCm39) |
|
probably benign |
Het |
Grik2 |
T |
C |
10: 49,298,671 (GRCm39) |
H63R |
possibly damaging |
Het |
Ikbke |
A |
G |
1: 131,201,452 (GRCm39) |
S132P |
possibly damaging |
Het |
Kirrel2 |
A |
G |
7: 30,153,089 (GRCm39) |
I340T |
probably benign |
Het |
Lipo5 |
A |
T |
19: 33,446,163 (GRCm39) |
|
probably benign |
Het |
Nfkbie |
T |
G |
17: 45,867,242 (GRCm39) |
|
probably null |
Het |
Ntng1 |
G |
T |
3: 109,842,311 (GRCm39) |
S154* |
probably null |
Het |
Or6c208 |
C |
T |
10: 129,223,973 (GRCm39) |
P157L |
probably benign |
Het |
Or8b12b |
A |
G |
9: 37,684,227 (GRCm39) |
I91V |
probably benign |
Het |
Pbld2 |
T |
C |
10: 62,907,179 (GRCm39) |
|
probably benign |
Het |
Phaf1 |
C |
T |
8: 105,966,605 (GRCm39) |
|
probably benign |
Het |
Plec |
C |
T |
15: 76,064,360 (GRCm39) |
M1971I |
probably benign |
Het |
Ppp1r3a |
A |
T |
6: 14,717,714 (GRCm39) |
F1067I |
probably damaging |
Het |
Qpctl |
A |
G |
7: 18,878,606 (GRCm39) |
F290L |
possibly damaging |
Het |
Sorcs3 |
A |
T |
19: 48,523,970 (GRCm39) |
Y288F |
probably damaging |
Het |
St8sia3 |
A |
G |
18: 64,398,651 (GRCm39) |
N37D |
probably benign |
Het |
Vmn2r109 |
T |
C |
17: 20,774,422 (GRCm39) |
D311G |
probably benign |
Het |
Zbtb44 |
A |
G |
9: 30,964,688 (GRCm39) |
I33V |
probably benign |
Het |
Zfp267 |
T |
C |
3: 36,218,210 (GRCm39) |
F78L |
probably benign |
Het |
Zfp541 |
C |
A |
7: 15,813,393 (GRCm39) |
T682K |
possibly damaging |
Het |
|
Other mutations in Col9a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01331:Col9a2
|
APN |
4 |
120,902,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01978:Col9a2
|
APN |
4 |
120,901,863 (GRCm39) |
missense |
unknown |
|
IGL01995:Col9a2
|
APN |
4 |
120,907,607 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02931:Col9a2
|
APN |
4 |
120,910,389 (GRCm39) |
missense |
probably benign |
0.06 |
collision
|
UTSW |
4 |
120,906,913 (GRCm39) |
critical splice donor site |
probably null |
|
gravity_wave
|
UTSW |
4 |
120,901,216 (GRCm39) |
critical splice donor site |
probably null |
|
R0208:Col9a2
|
UTSW |
4 |
120,909,485 (GRCm39) |
splice site |
probably benign |
|
R0426:Col9a2
|
UTSW |
4 |
120,901,857 (GRCm39) |
splice site |
probably benign |
|
R0512:Col9a2
|
UTSW |
4 |
120,911,504 (GRCm39) |
missense |
probably benign |
0.22 |
R0973:Col9a2
|
UTSW |
4 |
120,896,985 (GRCm39) |
critical splice donor site |
probably null |
|
R1023:Col9a2
|
UTSW |
4 |
120,901,207 (GRCm39) |
missense |
unknown |
|
R1657:Col9a2
|
UTSW |
4 |
120,898,171 (GRCm39) |
missense |
unknown |
|
R1724:Col9a2
|
UTSW |
4 |
120,911,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R2171:Col9a2
|
UTSW |
4 |
120,902,198 (GRCm39) |
nonsense |
probably null |
|
R2206:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R2221:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R2223:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R2273:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R2274:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R2275:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R2354:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R2392:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R2393:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R2394:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R3421:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R3426:Col9a2
|
UTSW |
4 |
120,907,604 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3710:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R3821:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R3838:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R3839:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R4067:Col9a2
|
UTSW |
4 |
120,909,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R4298:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R4299:Col9a2
|
UTSW |
4 |
120,911,455 (GRCm39) |
missense |
probably damaging |
0.98 |
R4595:Col9a2
|
UTSW |
4 |
120,902,352 (GRCm39) |
missense |
probably benign |
0.04 |
R4942:Col9a2
|
UTSW |
4 |
120,910,316 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5120:Col9a2
|
UTSW |
4 |
120,896,969 (GRCm39) |
missense |
unknown |
|
R5434:Col9a2
|
UTSW |
4 |
120,898,162 (GRCm39) |
nonsense |
probably null |
|
R6143:Col9a2
|
UTSW |
4 |
120,911,060 (GRCm39) |
missense |
probably damaging |
0.99 |
R7027:Col9a2
|
UTSW |
4 |
120,901,216 (GRCm39) |
critical splice donor site |
probably null |
|
R7056:Col9a2
|
UTSW |
4 |
120,906,913 (GRCm39) |
critical splice donor site |
probably null |
|
R7417:Col9a2
|
UTSW |
4 |
120,911,489 (GRCm39) |
missense |
not run |
|
R7571:Col9a2
|
UTSW |
4 |
120,896,981 (GRCm39) |
missense |
unknown |
|
R9120:Col9a2
|
UTSW |
4 |
120,900,951 (GRCm39) |
splice site |
probably benign |
|
R9341:Col9a2
|
UTSW |
4 |
120,911,483 (GRCm39) |
missense |
probably benign |
0.03 |
R9343:Col9a2
|
UTSW |
4 |
120,911,483 (GRCm39) |
missense |
probably benign |
0.03 |
R9389:Col9a2
|
UTSW |
4 |
120,911,948 (GRCm39) |
missense |
probably benign |
0.00 |
R9527:Col9a2
|
UTSW |
4 |
120,899,528 (GRCm39) |
critical splice donor site |
probably null |
|
R9620:Col9a2
|
UTSW |
4 |
120,910,403 (GRCm39) |
critical splice donor site |
probably null |
|
R9784:Col9a2
|
UTSW |
4 |
120,898,226 (GRCm39) |
missense |
unknown |
|
Z1176:Col9a2
|
UTSW |
4 |
120,910,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |