Incidental Mutation 'R1657:Col9a2'
| ID |
186451 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col9a2
|
| Ensembl Gene |
ENSMUSG00000028626 |
| Gene Name |
collagen, type IX, alpha 2 |
| Synonyms |
Col9a-2 |
| MMRRC Submission |
039693-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1657 (G1)
|
| Quality Score |
201 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
121039385-121055322 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 121040974 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 28
(P28T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030372]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000030372
AA Change: P28T
|
| SMART Domains |
Protein: ENSMUSP00000030372
Gene: ENSMUSG00000028626
AA Change: P28T
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610009B22Rik |
T |
C |
11: 51,685,678 (GRCm38) |
Q131R |
probably benign |
Het |
| 3632451O06Rik |
G |
C |
14: 49,773,560 (GRCm38) |
T230S |
probably damaging |
Het |
| Acaca |
T |
G |
11: 84,264,084 (GRCm38) |
D988E |
probably benign |
Het |
| Als2 |
A |
G |
1: 59,180,601 (GRCm38) |
V1185A |
probably damaging |
Het |
| Amdhd2 |
A |
G |
17: 24,156,055 (GRCm38) |
V391A |
probably damaging |
Het |
| Caprin1 |
A |
T |
2: 103,769,506 (GRCm38) |
V608E |
probably damaging |
Het |
| Celsr3 |
T |
A |
9: 108,842,952 (GRCm38) |
C2512* |
probably null |
Het |
| Cfl1 |
A |
T |
19: 5,493,555 (GRCm38) |
R187W |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,725,944 (GRCm38) |
V42I |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,480,430 (GRCm38) |
Y826H |
probably damaging |
Het |
| Cyp3a44 |
G |
A |
5: 145,779,743 (GRCm38) |
P346S |
probably damaging |
Het |
| Dact2 |
A |
G |
17: 14,197,990 (GRCm38) |
V151A |
probably benign |
Het |
| Dhx29 |
T |
C |
13: 112,952,843 (GRCm38) |
I716T |
probably damaging |
Het |
| Esam |
T |
C |
9: 37,537,621 (GRCm38) |
S342P |
probably damaging |
Het |
| Fam189a2 |
C |
A |
19: 23,975,635 (GRCm38) |
C437F |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 156,035,598 (GRCm38) |
V1053A |
possibly damaging |
Het |
| Grk3 |
A |
G |
5: 112,966,982 (GRCm38) |
F124S |
probably damaging |
Het |
| H2-DMa |
G |
A |
17: 34,137,399 (GRCm38) |
|
probably null |
Het |
| Hsd3b5 |
T |
A |
3: 98,619,720 (GRCm38) |
I137F |
possibly damaging |
Het |
| Itgav |
A |
T |
2: 83,801,779 (GRCm38) |
I902F |
probably benign |
Het |
| Itsn1 |
G |
T |
16: 91,909,223 (GRCm38) |
C179F |
probably damaging |
Het |
| Kcnh8 |
G |
A |
17: 52,839,125 (GRCm38) |
R347H |
probably damaging |
Het |
| Kif9 |
T |
C |
9: 110,489,966 (GRCm38) |
M166T |
possibly damaging |
Het |
| Kmt5c |
C |
T |
7: 4,746,454 (GRCm38) |
Q324* |
probably null |
Het |
| Lcn9 |
G |
A |
2: 25,824,710 (GRCm38) |
E154K |
probably benign |
Het |
| Mfge8 |
A |
T |
7: 79,141,773 (GRCm38) |
L227Q |
probably benign |
Het |
| Mroh2b |
A |
T |
15: 4,931,043 (GRCm38) |
R753* |
probably null |
Het |
| Mtif2 |
G |
A |
11: 29,540,721 (GRCm38) |
R475Q |
probably benign |
Het |
| Nln |
C |
T |
13: 104,036,947 (GRCm38) |
V584I |
possibly damaging |
Het |
| Nr2e3 |
T |
C |
9: 59,948,767 (GRCm38) |
E129G |
probably benign |
Het |
| Ocstamp |
T |
C |
2: 165,397,516 (GRCm38) |
D250G |
probably damaging |
Het |
| Olfr1065 |
A |
C |
2: 86,445,218 (GRCm38) |
L255V |
probably damaging |
Het |
| Olfr403 |
A |
T |
11: 74,195,896 (GRCm38) |
H131L |
probably damaging |
Het |
| Olfr503 |
T |
C |
7: 108,545,377 (GRCm38) |
I284T |
possibly damaging |
Het |
| Pld1 |
A |
T |
3: 28,071,187 (GRCm38) |
I417L |
probably benign |
Het |
| Polr1a |
A |
T |
6: 71,941,535 (GRCm38) |
K692N |
probably damaging |
Het |
| Qsox2 |
A |
T |
2: 26,220,747 (GRCm38) |
Y152* |
probably null |
Het |
| Rpap1 |
T |
C |
2: 119,783,778 (GRCm38) |
D46G |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,614,448 (GRCm38) |
T246A |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,562,380 (GRCm38) |
D82G |
probably damaging |
Het |
| Sema3d |
A |
G |
5: 12,584,974 (GRCm38) |
E669G |
possibly damaging |
Het |
| Serpinb6c |
T |
C |
13: 33,880,226 (GRCm38) |
N282S |
probably benign |
Het |
| Snap47 |
A |
T |
11: 59,428,770 (GRCm38) |
S181T |
probably benign |
Het |
| Snx9 |
A |
C |
17: 5,918,436 (GRCm38) |
T336P |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,277,515 (GRCm38) |
R838* |
probably null |
Het |
| Terb1 |
A |
T |
8: 104,488,491 (GRCm38) |
D284E |
possibly damaging |
Het |
| Tmem266 |
C |
T |
9: 55,418,008 (GRCm38) |
A153V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,742,804 (GRCm38) |
E25915G |
possibly damaging |
Het |
| Tubal3 |
A |
G |
13: 3,933,011 (GRCm38) |
T264A |
possibly damaging |
Het |
| Vldlr |
G |
A |
19: 27,245,670 (GRCm38) |
R747Q |
probably benign |
Het |
| Zc3h8 |
G |
T |
2: 128,929,957 (GRCm38) |
|
probably benign |
Het |
| Zfp184 |
C |
T |
13: 21,959,273 (GRCm38) |
T383M |
probably damaging |
Het |
| Zfp455 |
T |
C |
13: 67,198,639 (GRCm38) |
F38S |
possibly damaging |
Het |
| Zfp746 |
A |
G |
6: 48,082,174 (GRCm38) |
V167A |
possibly damaging |
Het |
| Zfp985 |
T |
A |
4: 147,584,110 (GRCm38) |
N478K |
probably benign |
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 |
|
|
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'- ACAGTGCAAAGACCGTGTGACC -3'
(R):5'- TGACAGACTCCCACATTTCAAGGC -3'
Sequencing Primer
(F):5'- cctcaccctctgcttgtc -3'
(R):5'- TCTGAACAAACAGACTCCTTGTGG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation