Incidental Mutation 'R9620:Col9a2'
| ID |
724700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Col9a2
|
| Ensembl Gene |
ENSMUSG00000028626 |
| Gene Name |
collagen, type IX, alpha 2 |
| Synonyms |
Col9a-2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9620 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
120896763-120912522 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 120910403 bp (GRCm39)
|
| 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 null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
G |
T |
18: 10,704,605 (GRCm39) |
T151K |
possibly damaging |
Het |
| Acsf2 |
C |
T |
11: 94,463,412 (GRCm39) |
W130* |
probably null |
Het |
| Aldh16a1 |
G |
A |
7: 44,797,413 (GRCm39) |
R132* |
probably null |
Het |
| Amer3 |
C |
T |
1: 34,628,043 (GRCm39) |
P761S |
probably benign |
Het |
| Amotl1 |
G |
T |
9: 14,459,969 (GRCm39) |
D886E |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,035,909 (GRCm39) |
F1383S |
probably damaging |
Het |
| Col14a1 |
T |
A |
15: 55,225,781 (GRCm39) |
V148E |
unknown |
Het |
| Cyp2a5 |
T |
A |
7: 26,536,636 (GRCm39) |
M205K |
possibly damaging |
Het |
| Dcst2 |
A |
T |
3: 89,277,825 (GRCm39) |
Q466L |
possibly damaging |
Het |
| Ecel1 |
T |
C |
1: 87,080,853 (GRCm39) |
I350V |
possibly damaging |
Het |
| Enthd1 |
G |
A |
15: 80,336,901 (GRCm39) |
T511I |
probably benign |
Het |
| Exoc6b |
T |
A |
6: 84,988,302 (GRCm39) |
K92* |
probably null |
Het |
| Fam181a |
T |
G |
12: 103,282,591 (GRCm39) |
Y165* |
probably null |
Het |
| Fbxo34 |
A |
G |
14: 47,768,725 (GRCm39) |
Y746C |
probably damaging |
Het |
| Fgfr4 |
T |
A |
13: 55,308,994 (GRCm39) |
S372T |
possibly damaging |
Het |
| Fmo1 |
A |
G |
1: 162,661,390 (GRCm39) |
F298L |
probably benign |
Het |
| Gad1 |
A |
C |
2: 70,404,620 (GRCm39) |
D170A |
possibly damaging |
Het |
| Garin2 |
A |
C |
12: 78,762,077 (GRCm39) |
D247A |
probably damaging |
Het |
| Golgb1 |
T |
C |
16: 36,739,811 (GRCm39) |
S2758P |
probably benign |
Het |
| Golm2 |
T |
C |
2: 121,737,242 (GRCm39) |
V261A |
probably benign |
Het |
| H2az2 |
A |
T |
11: 6,379,094 (GRCm39) |
|
probably null |
Het |
| Ilkap |
A |
G |
1: 91,303,973 (GRCm39) |
C163R |
|
Het |
| Krt9 |
A |
T |
11: 100,079,186 (GRCm39) |
D735E |
unknown |
Het |
| Lipo3 |
A |
T |
19: 33,559,629 (GRCm39) |
C80* |
probably null |
Het |
| Lpcat3 |
C |
T |
6: 124,680,543 (GRCm39) |
P478L |
probably damaging |
Het |
| Luc7l3 |
G |
A |
11: 94,212,545 (GRCm39) |
R24C |
unknown |
Het |
| Mafa |
T |
A |
15: 75,619,161 (GRCm39) |
H204L |
probably benign |
Het |
| Mapk10 |
A |
C |
5: 103,114,473 (GRCm39) |
V305G |
probably damaging |
Het |
| Mgat1 |
T |
C |
11: 49,152,122 (GRCm39) |
F202L |
probably benign |
Het |
| Mical2 |
A |
T |
7: 111,980,403 (GRCm39) |
T126S |
probably benign |
Het |
| Mill1 |
G |
A |
7: 17,997,027 (GRCm39) |
R206H |
probably benign |
Het |
| Nlrc5 |
A |
T |
8: 95,203,034 (GRCm39) |
Y378F |
probably benign |
Het |
| Nlrp9a |
G |
T |
7: 26,250,469 (GRCm39) |
R78L |
probably damaging |
Het |
| Or10b1 |
G |
T |
10: 78,356,128 (GRCm39) |
A229S |
probably benign |
Het |
| Or52i2 |
A |
T |
7: 102,320,011 (GRCm39) |
I295F |
possibly damaging |
Het |
| Or8g50 |
A |
T |
9: 39,648,287 (GRCm39) |
M59L |
|
Het |
| Orc6 |
A |
T |
8: 86,026,430 (GRCm39) |
|
probably benign |
Het |
| Pate14 |
A |
G |
9: 36,548,498 (GRCm39) |
|
probably null |
Het |
| Pcdhgb5 |
C |
T |
18: 37,864,486 (GRCm39) |
Q94* |
probably null |
Het |
| Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,749,519 (GRCm39) |
H1135L |
|
Het |
| Prmt2 |
A |
T |
10: 76,061,213 (GRCm39) |
I91N |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,116,484 (GRCm39) |
Y932H |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,946 (GRCm39) |
K154R |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,036,051 (GRCm39) |
T515A |
probably benign |
Het |
| Rgmb |
G |
A |
17: 16,041,279 (GRCm39) |
R103* |
probably null |
Het |
| Ripk1 |
T |
G |
13: 34,210,806 (GRCm39) |
S334A |
possibly damaging |
Het |
| Rnf5 |
C |
T |
17: 34,820,721 (GRCm39) |
G147S |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,715,138 (GRCm39) |
Y4662C |
unknown |
Het |
| Secisbp2l |
A |
G |
2: 125,589,394 (GRCm39) |
M718T |
probably damaging |
Het |
| Slc16a6 |
T |
C |
11: 109,354,322 (GRCm39) |
T100A |
probably benign |
Het |
| Slc27a6 |
T |
A |
18: 58,742,887 (GRCm39) |
M525K |
probably damaging |
Het |
| Slco2a1 |
G |
C |
9: 102,962,065 (GRCm39) |
C579S |
probably damaging |
Het |
| Snx14 |
A |
G |
9: 88,263,794 (GRCm39) |
S864P |
probably damaging |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,800,535 (GRCm39) |
L2250P |
probably damaging |
Het |
| Tlr6 |
A |
T |
5: 65,112,146 (GRCm39) |
S254T |
possibly damaging |
Het |
| Trap1 |
A |
T |
16: 3,858,083 (GRCm39) |
Y675* |
probably null |
Het |
| Ttc9b |
C |
A |
7: 27,353,512 (GRCm39) |
A54E |
probably damaging |
Het |
| Unc45a |
A |
C |
7: 79,975,403 (GRCm39) |
Y934D |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 102,900,179 (GRCm39) |
L251P |
possibly damaging |
Het |
| Usp42 |
A |
G |
5: 143,703,154 (GRCm39) |
V489A |
probably damaging |
Het |
| Vars1 |
A |
G |
17: 35,235,001 (GRCm39) |
T1277A |
unknown |
Het |
| Vmn2r117 |
A |
G |
17: 23,697,450 (GRCm39) |
S81P |
probably damaging |
Het |
| Vmn2r69 |
T |
A |
7: 85,061,504 (GRCm39) |
I157F |
probably benign |
Het |
| Zfp697 |
A |
G |
3: 98,335,182 (GRCm39) |
S316G |
probably damaging |
Het |
| Zfp729b |
T |
A |
13: 67,739,787 (GRCm39) |
H826L |
probably 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 |
|
|
IGL02162:Col9a2
|
APN |
4 |
120,911,531 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
|
R9784:Col9a2
|
UTSW |
4 |
120,898,226 (GRCm39) |
missense |
unknown |
|
|
Z1176:Col9a2
|
UTSW |
4 |
120,910,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGAAGCCTTCTCAGTCCAC -3'
(R):5'- CAATTCAGGAAGAAGCTCTGGC -3'
Sequencing Primer
(F):5'- AGTCCACACCGTCCCCTG -3'
(R):5'- TCTGGCTGCCAAGACCAAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation