Incidental Mutation 'R4595:Col9a2'
| ID |
344314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col9a2
|
| Ensembl Gene |
ENSMUSG00000028626 |
| Gene Name |
collagen, type IX, alpha 2 |
| Synonyms |
Col9a-2 |
| MMRRC Submission |
041811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4595 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
121039385-121055322 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 121045155 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 196
(K196N)
|
| 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
AA Change: K196N
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000030372
Gene: ENSMUSG00000028626
AA Change: K196N
| 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: ENSMUST00000151987
|
| Meta Mutation Damage Score |
0.1445 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
94% (62/66) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,164,547 (GRCm38) |
E685V |
possibly damaging |
Het |
| 2700049A03Rik |
G |
T |
12: 71,164,546 (GRCm38) |
E685* |
probably null |
Het |
| 4921536K21Rik |
A |
G |
11: 3,890,052 (GRCm38) |
I115T |
probably benign |
Het |
| Acads |
A |
T |
5: 115,113,064 (GRCm38) |
N120K |
probably damaging |
Het |
| Aco1 |
T |
A |
4: 40,167,139 (GRCm38) |
C118S |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,289,748 (GRCm38) |
T1493A |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,158,428 (GRCm38) |
Y480H |
possibly damaging |
Het |
| Brd4 |
A |
T |
17: 32,198,922 (GRCm38) |
I86N |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,945,023 (GRCm38) |
E1477G |
probably damaging |
Het |
| Ccne2 |
A |
G |
4: 11,202,986 (GRCm38) |
N368S |
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,641,234 (GRCm38) |
F152L |
probably benign |
Het |
| Cfap46 |
T |
A |
7: 139,652,404 (GRCm38) |
D881V |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,721,229 (GRCm38) |
V212A |
probably damaging |
Het |
| Copg2 |
T |
C |
6: 30,749,450 (GRCm38) |
D814G |
probably damaging |
Het |
| Dcaf13 |
G |
A |
15: 39,118,893 (GRCm38) |
G85R |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 66,168,152 (GRCm38) |
S106P |
probably benign |
Het |
| Dpp8 |
A |
G |
9: 65,075,803 (GRCm38) |
D739G |
probably damaging |
Het |
| Drd2 |
T |
A |
9: 49,404,789 (GRCm38) |
M283K |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,298,724 (GRCm38) |
T208A |
probably benign |
Het |
| Glul |
G |
A |
1: 153,903,050 (GRCm38) |
G35D |
possibly damaging |
Het |
| Gm14412 |
T |
C |
2: 177,315,212 (GRCm38) |
K297E |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,305,810 (GRCm38) |
R120W |
probably damaging |
Het |
| Hipk3 |
T |
A |
2: 104,441,277 (GRCm38) |
T437S |
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,658,766 (GRCm38) |
A421V |
probably damaging |
Het |
| Lipn |
T |
G |
19: 34,081,350 (GRCm38) |
Y321D |
probably damaging |
Het |
| Lrwd1 |
A |
G |
5: 136,123,956 (GRCm38) |
V484A |
probably benign |
Het |
| Madd |
T |
C |
2: 91,167,664 (GRCm38) |
D673G |
possibly damaging |
Het |
| Marveld1 |
T |
A |
19: 42,147,764 (GRCm38) |
L39Q |
probably damaging |
Het |
| Mfsd2b |
T |
C |
12: 4,865,807 (GRCm38) |
T299A |
possibly damaging |
Het |
| Micu3 |
T |
C |
8: 40,359,397 (GRCm38) |
|
probably benign |
Het |
| Mmp7 |
T |
C |
9: 7,697,666 (GRCm38) |
V234A |
probably damaging |
Het |
| Nhsl1 |
T |
A |
10: 18,527,609 (GRCm38) |
D1329E |
probably benign |
Het |
| Or4a15 |
C |
T |
2: 89,363,325 (GRCm38) |
V35M |
probably damaging |
Het |
| Or4f14b |
T |
C |
2: 111,944,652 (GRCm38) |
D268G |
possibly damaging |
Het |
| Or52a33 |
A |
G |
7: 103,640,101 (GRCm38) |
F13S |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,514,515 (GRCm38) |
D232E |
probably damaging |
Het |
| Pebp1 |
G |
T |
5: 117,283,410 (GRCm38) |
D156E |
probably benign |
Het |
| Pik3cb |
A |
G |
9: 99,055,406 (GRCm38) |
Y745H |
possibly damaging |
Het |
| Pld2 |
T |
C |
11: 70,542,020 (GRCm38) |
L170P |
probably damaging |
Het |
| Ptch1 |
T |
C |
13: 63,543,608 (GRCm38) |
D277G |
possibly damaging |
Het |
| Rab11fip1 |
A |
T |
8: 27,154,575 (GRCm38) |
M394K |
probably damaging |
Het |
| Rhoq |
T |
C |
17: 86,964,326 (GRCm38) |
Y57H |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,857,516 (GRCm38) |
I979V |
probably benign |
Het |
| Slc6a4 |
A |
G |
11: 77,019,863 (GRCm38) |
I447V |
probably benign |
Het |
| Sos2 |
T |
C |
12: 69,616,889 (GRCm38) |
K607R |
probably damaging |
Het |
| Stt3a |
T |
C |
9: 36,735,512 (GRCm38) |
I602V |
probably damaging |
Het |
| Syne2 |
A |
T |
12: 75,967,071 (GRCm38) |
Q3012L |
possibly damaging |
Het |
| Taf1b |
T |
A |
12: 24,500,442 (GRCm38) |
F9I |
possibly damaging |
Het |
| Tex35 |
T |
A |
1: 157,099,339 (GRCm38) |
Y195F |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,995,745 (GRCm38) |
T1277A |
probably damaging |
Het |
| Tnfsf15 |
G |
T |
4: 63,729,943 (GRCm38) |
Y153* |
probably null |
Het |
| Trim5 |
C |
A |
7: 104,265,432 (GRCm38) |
V477F |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,064,417 (GRCm38) |
I245T |
probably damaging |
Het |
| Zbtb16 |
C |
T |
9: 48,832,080 (GRCm38) |
E311K |
possibly damaging |
Het |
| Zmynd19 |
A |
G |
2: 24,958,988 (GRCm38) |
D165G |
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 |
|
|
R0208:Col9a2
|
UTSW |
4 |
121,052,288 (GRCm38) |
splice site |
probably benign |
|
|
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 |
|
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'- ATTGCTCAGCTGGCCTTGAC -3'
(R):5'- AATAAGAGACCCAGTGGCCTC -3'
Sequencing Primer
(F):5'- ACCTCAAGGCCTTATAGGATTTTC -3'
(R):5'- TCCTGCCCCTCAGCACAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation