Incidental Mutation 'R0208:Col9a2'
| ID |
33460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col9a2
|
| Ensembl Gene |
ENSMUSG00000028626 |
| Gene Name |
collagen, type IX, alpha 2 |
| Synonyms |
Col9a-2 |
| MMRRC Submission |
038461-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0208 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
121039385-121055322 bp(+) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 121052288 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030372]
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000140119
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
96% (67/70) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 104,099,661 (GRCm38) |
V29A |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,586,807 (GRCm38) |
F313L |
probably benign |
Het |
| Arfgef2 |
C |
T |
2: 166,867,422 (GRCm38) |
R1140W |
probably damaging |
Het |
| Arhgef15 |
A |
T |
11: 68,946,373 (GRCm38) |
N797K |
probably benign |
Het |
| Arhgef5 |
A |
G |
6: 43,273,341 (GRCm38) |
E342G |
probably damaging |
Het |
| Asb2 |
T |
A |
12: 103,325,271 (GRCm38) |
N466Y |
possibly damaging |
Het |
| Atp8a1 |
A |
T |
5: 67,774,721 (GRCm38) |
|
probably null |
Het |
| C130079G13Rik |
C |
T |
3: 59,932,689 (GRCm38) |
R61C |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,607,480 (GRCm38) |
S2140P |
probably damaging |
Het |
| Camsap2 |
G |
C |
1: 136,281,000 (GRCm38) |
P918R |
probably damaging |
Het |
| Cdk7 |
G |
T |
13: 100,706,514 (GRCm38) |
D202E |
probably benign |
Het |
| Cenpj |
G |
T |
14: 56,563,970 (GRCm38) |
A182E |
probably benign |
Het |
| Clstn3 |
A |
G |
6: 124,432,169 (GRCm38) |
|
probably benign |
Het |
| D630045J12Rik |
A |
G |
6: 38,139,450 (GRCm38) |
M1745T |
probably damaging |
Het |
| Dnah11 |
A |
C |
12: 118,043,774 (GRCm38) |
N2156K |
probably damaging |
Het |
| Dock3 |
G |
T |
9: 106,996,996 (GRCm38) |
Y425* |
probably null |
Het |
| Eng |
A |
T |
2: 32,678,993 (GRCm38) |
T511S |
probably benign |
Het |
| Gcfc2 |
A |
T |
6: 81,943,463 (GRCm38) |
S410C |
probably null |
Het |
| Grik3 |
T |
A |
4: 125,686,165 (GRCm38) |
Y568N |
probably damaging |
Het |
| Gsr |
T |
A |
8: 33,689,355 (GRCm38) |
D330E |
possibly damaging |
Het |
| H2-M10.4 |
A |
G |
17: 36,460,483 (GRCm38) |
W268R |
probably damaging |
Het |
| Hepacam2 |
A |
T |
6: 3,467,505 (GRCm38) |
|
probably benign |
Het |
| Hrct1 |
C |
A |
4: 43,727,384 (GRCm38) |
T8K |
possibly damaging |
Het |
| Idua |
T |
A |
5: 108,681,752 (GRCm38) |
F447I |
probably damaging |
Het |
| Il2ra |
T |
C |
2: 11,682,017 (GRCm38) |
|
probably benign |
Het |
| Ipcef1 |
A |
G |
10: 6,920,062 (GRCm38) |
S113P |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,979,430 (GRCm38) |
N119K |
possibly damaging |
Het |
| Krtap9-3 |
C |
A |
11: 99,597,837 (GRCm38) |
C73F |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,404,866 (GRCm38) |
F1334L |
possibly damaging |
Het |
| Med1 |
A |
G |
11: 98,155,689 (GRCm38) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,300,856 (GRCm38) |
|
probably benign |
Het |
| Mtor |
C |
A |
4: 148,464,975 (GRCm38) |
H605Q |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,893,024 (GRCm38) |
|
noncoding transcript |
Het |
| Mybphl |
T |
C |
3: 108,375,415 (GRCm38) |
V207A |
probably damaging |
Het |
| Nptxr |
A |
T |
15: 79,789,715 (GRCm38) |
C366S |
probably null |
Het |
| Olfr1099 |
G |
T |
2: 86,959,404 (GRCm38) |
T18K |
probably damaging |
Het |
| Olfr1458 |
G |
A |
19: 13,103,278 (GRCm38) |
R3C |
possibly damaging |
Het |
| Olfr498 |
A |
G |
7: 108,465,543 (GRCm38) |
D73G |
probably damaging |
Het |
| Pcdhb18 |
T |
C |
18: 37,490,187 (GRCm38) |
I190T |
possibly damaging |
Het |
| Pde3b |
A |
G |
7: 114,497,981 (GRCm38) |
T428A |
probably benign |
Het |
| Pgbd1 |
A |
C |
13: 21,434,481 (GRCm38) |
L2R |
probably damaging |
Het |
| Pkp4 |
A |
G |
2: 59,266,436 (GRCm38) |
I61V |
probably damaging |
Het |
| Pold4 |
T |
G |
19: 4,232,539 (GRCm38) |
Y58* |
probably null |
Het |
| Polr1d |
A |
C |
5: 147,078,680 (GRCm38) |
|
probably null |
Het |
| Prex2 |
T |
A |
1: 11,285,144 (GRCm38) |
D1556E |
probably damaging |
Het |
| Psmd1 |
T |
C |
1: 86,133,741 (GRCm38) |
V891A |
possibly damaging |
Het |
| Rasip1 |
C |
A |
7: 45,632,575 (GRCm38) |
P501T |
probably damaging |
Het |
| Scgb2b27 |
C |
A |
7: 34,012,137 (GRCm38) |
E96* |
probably null |
Het |
| Sec16b |
G |
T |
1: 157,552,935 (GRCm38) |
G359* |
probably null |
Het |
| Secisbp2 |
A |
G |
13: 51,679,845 (GRCm38) |
T674A |
probably benign |
Het |
| Serpinb6c |
G |
A |
13: 33,897,396 (GRCm38) |
S90L |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,868,241 (GRCm38) |
I170T |
probably damaging |
Het |
| Slc28a1 |
A |
T |
7: 81,117,706 (GRCm38) |
|
probably benign |
Het |
| Slc35d1 |
T |
C |
4: 103,208,154 (GRCm38) |
T177A |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 122,055,696 (GRCm38) |
|
probably null |
Het |
| Spint1 |
T |
C |
2: 119,248,345 (GRCm38) |
|
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,192,960 (GRCm38) |
H545R |
probably damaging |
Het |
| Tada3 |
A |
T |
6: 113,367,007 (GRCm38) |
L227Q |
probably damaging |
Het |
| Tln1 |
C |
T |
4: 43,549,151 (GRCm38) |
V644M |
probably damaging |
Het |
| Unc79 |
G |
A |
12: 103,092,027 (GRCm38) |
V1016I |
probably benign |
Het |
| Usf3 |
C |
A |
16: 44,216,906 (GRCm38) |
A583E |
probably damaging |
Het |
| Ush2a |
A |
C |
1: 188,531,761 (GRCm38) |
I1612L |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,539,912 (GRCm38) |
T578A |
probably benign |
Het |
| Zmat4 |
T |
A |
8: 23,902,067 (GRCm38) |
M13K |
probably damaging |
Het |
|
| Other mutations in Col9a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01331:Col9a2
|
APN |
4 |
121,045,192 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01978:Col9a2
|
APN |
4 |
121,044,666 (GRCm38) |
missense |
unknown |
|
|
IGL01995:Col9a2
|
APN |
4 |
121,050,410 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02162:Col9a2
|
APN |
4 |
121,054,334 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02931:Col9a2
|
APN |
4 |
121,053,192 (GRCm38) |
missense |
probably benign |
0.06 |
|
collision
|
UTSW |
4 |
121,049,716 (GRCm38) |
critical splice donor site |
probably null |
|
|
gravity_wave
|
UTSW |
4 |
121,044,019 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0426:Col9a2
|
UTSW |
4 |
121,044,660 (GRCm38) |
splice site |
probably benign |
|
|
R0512:Col9a2
|
UTSW |
4 |
121,054,307 (GRCm38) |
missense |
probably benign |
0.22 |
|
R0973:Col9a2
|
UTSW |
4 |
121,039,788 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1023:Col9a2
|
UTSW |
4 |
121,044,010 (GRCm38) |
missense |
unknown |
|
|
R1657:Col9a2
|
UTSW |
4 |
121,040,974 (GRCm38) |
missense |
unknown |
|
|
R1724:Col9a2
|
UTSW |
4 |
121,053,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2171:Col9a2
|
UTSW |
4 |
121,045,001 (GRCm38) |
nonsense |
probably null |
|
|
R2206:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2221:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2223:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2273:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2274:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2275:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2354:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2392:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2393:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2394:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3421:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3426:Col9a2
|
UTSW |
4 |
121,050,407 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R3710:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3821:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3838:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3839:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4067:Col9a2
|
UTSW |
4 |
121,052,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4298:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4299:Col9a2
|
UTSW |
4 |
121,054,258 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4595:Col9a2
|
UTSW |
4 |
121,045,155 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4942:Col9a2
|
UTSW |
4 |
121,053,119 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R5120:Col9a2
|
UTSW |
4 |
121,039,772 (GRCm38) |
missense |
unknown |
|
|
R5434:Col9a2
|
UTSW |
4 |
121,040,965 (GRCm38) |
nonsense |
probably null |
|
|
R6143:Col9a2
|
UTSW |
4 |
121,053,863 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7027:Col9a2
|
UTSW |
4 |
121,044,019 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7056:Col9a2
|
UTSW |
4 |
121,049,716 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7417:Col9a2
|
UTSW |
4 |
121,054,292 (GRCm38) |
missense |
not run |
|
|
R7571:Col9a2
|
UTSW |
4 |
121,039,784 (GRCm38) |
missense |
unknown |
|
|
R9120:Col9a2
|
UTSW |
4 |
121,043,754 (GRCm38) |
splice site |
probably benign |
|
|
R9341:Col9a2
|
UTSW |
4 |
121,054,286 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9343:Col9a2
|
UTSW |
4 |
121,054,286 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9389:Col9a2
|
UTSW |
4 |
121,054,751 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9527:Col9a2
|
UTSW |
4 |
121,042,331 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9620:Col9a2
|
UTSW |
4 |
121,053,206 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9784:Col9a2
|
UTSW |
4 |
121,041,029 (GRCm38) |
missense |
unknown |
|
|
Z1176:Col9a2
|
UTSW |
4 |
121,053,797 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCCTCTCTGACAAGCCCTCAAATG -3'
(R):5'- TTCTGGTCTAACCCAATCCCACGG -3'
Sequencing Primer
(F):5'- GCCCTCAAATGAATGTCTGTAAC -3'
(R):5'- CTACAGCAGCCCAGACTTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation