Incidental Mutation 'IGL01995:Col9a2'
ID 183683
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) question?
Stock # IGL01995
Quality Score
Status
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 C at 120907607 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

DomainStartEndE-ValueType
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
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,401,302 (GRCm39) probably benign Het
AI661453 C A 17: 47,779,442 (GRCm39) probably benign Het
Arhgap29 G A 3: 121,807,977 (GRCm39) V1052I probably benign Het
Arhgef17 A G 7: 100,577,862 (GRCm39) S1029P probably benign Het
Arpc5l T C 2: 38,898,226 (GRCm39) S7P probably damaging Het
Asf1b A G 8: 84,682,533 (GRCm39) I26V probably benign Het
Cep95 T C 11: 106,697,197 (GRCm39) L240P probably damaging Het
Cnmd A G 14: 79,879,508 (GRCm39) probably benign Het
Cntn3 T A 6: 102,180,846 (GRCm39) N783I probably damaging Het
Col6a2 C A 10: 76,440,676 (GRCm39) probably benign Het
Cry2 T C 2: 92,254,977 (GRCm39) E126G probably benign Het
Cxcl15 T C 5: 90,942,467 (GRCm39) V13A possibly damaging Het
Dbr1 A G 9: 99,465,952 (GRCm39) D510G probably benign Het
Dct A G 14: 118,271,655 (GRCm39) F392L probably damaging Het
Dgkz A G 2: 91,764,395 (GRCm39) probably benign Het
Dhrs7b A G 11: 60,721,541 (GRCm39) I2V probably benign Het
Efnb3 A T 11: 69,447,730 (GRCm39) probably null Het
Fbf1 T A 11: 116,041,846 (GRCm39) R565S probably null Het
Gimap5 T C 6: 48,729,727 (GRCm39) I99T probably damaging Het
Gm9912 A G 3: 148,891,085 (GRCm39) L16P unknown Het
Gpr17 A G 18: 32,080,187 (GRCm39) L292P probably damaging Het
Hdac10 C T 15: 89,011,801 (GRCm39) V129M probably damaging Het
Mfap3l A G 8: 61,124,498 (GRCm39) I247V possibly damaging Het
Mtus1 A T 8: 41,537,457 (GRCm39) S86R probably damaging Het
Mylk3 A G 8: 86,085,890 (GRCm39) S55P possibly damaging Het
Nol6 A T 4: 41,118,567 (GRCm39) C745S probably damaging Het
Nudt13 A T 14: 20,356,385 (GRCm39) E103D probably damaging Het
Or10ag59 A G 2: 87,405,806 (GRCm39) Y126C probably damaging Het
Or1e35 A G 11: 73,798,261 (GRCm39) I19T possibly damaging Het
Pdzk1 G T 3: 96,764,687 (GRCm39) A324S probably benign Het
Pofut2 T C 10: 77,096,515 (GRCm39) V80A possibly damaging Het
Rasip1 A G 7: 45,286,240 (GRCm39) D821G probably damaging Het
Rnf10 T A 5: 115,389,161 (GRCm39) K273* probably null Het
Slc4a9 A G 18: 36,672,828 (GRCm39) M811V possibly damaging Het
Smchd1 T C 17: 71,751,015 (GRCm39) D301G probably damaging Het
Tm9sf2 A T 14: 122,380,883 (GRCm39) T159S probably benign Het
Tom1l1 G A 11: 90,540,687 (GRCm39) P327S probably damaging Het
Trim3 A G 7: 105,267,689 (GRCm39) probably benign Het
Trpm6 A C 19: 18,807,691 (GRCm39) probably benign Het
Ttc13 A C 8: 125,415,621 (GRCm39) L245R probably damaging Het
Txnrd1 T A 10: 82,713,118 (GRCm39) V60E probably damaging Het
Ung T A 5: 114,274,447 (GRCm39) D173E probably benign Het
Zbtb5 A G 4: 44,995,294 (GRCm39) V30A probably damaging Het
Other mutations in Col9a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Col9a2 APN 4 120,902,389 (GRCm39) missense possibly damaging 0.95
IGL01978:Col9a2 APN 4 120,901,863 (GRCm39) missense unknown
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
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 2014-05-07