Incidental Mutation 'IGL02931:Col9a2'
ID364102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col9a2
Ensembl Gene ENSMUSG00000028626
Gene Namecollagen, type IX, alpha 2
SynonymsCol9a-2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02931
Quality Score
Status
Chromosome4
Chromosomal Location121039385-121055322 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 121053192 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Serine at position 511 (R511S)
Ref Sequence ENSEMBL: ENSMUSP00000030372 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030372]
Predicted Effect probably benign
Transcript: ENSMUST00000030372
AA Change: R511S

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000030372
Gene: ENSMUSG00000028626
AA Change: R511S

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 G A 11: 7,079,012 R254Q probably benign Het
Adgrv1 T C 13: 81,579,714 Y269C probably damaging Het
Apol7a C A 15: 77,393,450 E33* probably null Het
Arhgap29 T C 3: 121,992,860 V358A probably benign Het
B3galt1 T C 2: 68,118,384 S148P probably damaging Het
BC061237 A G 14: 44,503,322 N60D possibly damaging Het
Bcl9l C T 9: 44,500,750 P11L probably damaging Het
Ccdc89 A C 7: 90,426,902 K107Q probably benign Het
Col27a1 T C 4: 63,331,426 probably benign Het
Col5a2 T C 1: 45,385,065 D1067G probably damaging Het
Disp3 G A 4: 148,249,201 S1060F possibly damaging Het
Dusp8 T C 7: 142,082,930 T308A probably benign Het
Ern1 T C 11: 106,423,440 N178S probably damaging Het
Gas6 C A 8: 13,477,136 C204F probably damaging Het
Gga1 T C 15: 78,893,322 S558P possibly damaging Het
Gli1 T C 10: 127,332,410 T525A probably benign Het
Gm428 G A 4: 73,687,365 A338T probably damaging Het
Gse1 A G 8: 120,578,069 probably benign Het
Hmcn1 G A 1: 150,657,207 S3075L probably benign Het
Hnf4a G A 2: 163,566,117 probably benign Het
Htt A T 5: 34,876,753 E1894D probably damaging Het
Kcnh8 G A 17: 52,956,622 E716K probably benign Het
Kntc1 A G 5: 123,799,811 Y1524C probably damaging Het
Krtap9-5 A G 11: 99,949,105 T211A unknown Het
Lin54 T C 5: 100,480,321 I8V possibly damaging Het
Lipe A G 7: 25,383,335 probably benign Het
Lpin2 T A 17: 71,238,683 V508E probably damaging Het
Lrrc9 C A 12: 72,454,149 H216Q probably damaging Het
Lrrn1 T C 6: 107,567,748 L169P probably damaging Het
Map9 C A 3: 82,377,121 T334K possibly damaging Het
Mst1 A T 9: 108,084,642 probably null Het
Mtor T A 4: 148,464,964 F602I probably benign Het
Mylpf T A 7: 127,213,626 D98E probably benign Het
Naca C A 10: 128,047,682 Q2059K probably damaging Het
Nefh G A 11: 4,941,356 T421I possibly damaging Het
Nlrp4g T A 9: 124,348,940 noncoding transcript Het
Npat C T 9: 53,571,041 Q1350* probably null Het
Oaz3 T C 3: 94,434,980 N123S probably benign Het
Patj A G 4: 98,411,173 probably benign Het
Piezo1 A C 8: 122,483,519 D2224E probably damaging Het
Pnpla7 A T 2: 25,015,229 I610F possibly damaging Het
Psapl1 A T 5: 36,204,889 D275V probably damaging Het
Ptpdc1 T A 13: 48,590,619 probably benign Het
Rac2 T C 15: 78,570,747 E31G possibly damaging Het
Sdhc T C 1: 171,143,555 probably benign Het
Smim23 G T 11: 32,820,667 P80T probably damaging Het
Snupn C T 9: 56,957,080 T21I probably benign Het
Tjp2 A G 19: 24,096,632 V1097A probably benign Het
Tmem8 T A 17: 26,117,949 F280L probably benign Het
Ttc16 A G 2: 32,771,927 Y164H probably damaging Het
Txlnb A G 10: 17,827,982 E296G probably damaging Het
Ube2l6 G A 2: 84,802,851 V34M probably damaging Het
Vwf A C 6: 125,615,968 S764R possibly damaging Het
Zfand3 A G 17: 30,192,637 S146G probably benign Het
Zfp280d T G 9: 72,296,025 F18L probably benign Het
Other mutations in Col9a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01331:Col9a2 APN 4 121045192 missense possibly damaging 0.95
IGL01978:Col9a2 APN 4 121044666 missense unknown
IGL01995:Col9a2 APN 4 121050410 critical splice donor site probably null
IGL02162:Col9a2 APN 4 121054334 unclassified probably benign
gravity_wave UTSW 4 121044019 critical splice donor site probably null
R0208:Col9a2 UTSW 4 121052288 splice site probably benign
R0426:Col9a2 UTSW 4 121044660 splice site probably benign
R0512:Col9a2 UTSW 4 121054307 missense probably benign 0.22
R0973:Col9a2 UTSW 4 121039788 critical splice donor site probably null
R1023:Col9a2 UTSW 4 121044010 missense unknown
R1657:Col9a2 UTSW 4 121040974 missense unknown
R1724:Col9a2 UTSW 4 121053902 missense probably damaging 1.00
R2171:Col9a2 UTSW 4 121045001 nonsense probably null
R2206:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R2221:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R2223:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R2273:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R2274:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R2275:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R2354:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R2392:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R2393:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R2394:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R3421:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R3426:Col9a2 UTSW 4 121050407 missense possibly damaging 0.93
R3710:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R3821:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R3838:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R3839:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R4067:Col9a2 UTSW 4 121052389 missense probably damaging 1.00
R4298:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R4299:Col9a2 UTSW 4 121054258 missense probably damaging 0.98
R4595:Col9a2 UTSW 4 121045155 missense probably benign 0.04
R4942:Col9a2 UTSW 4 121053119 missense possibly damaging 0.73
R5120:Col9a2 UTSW 4 121039772 missense unknown
R5434:Col9a2 UTSW 4 121040965 nonsense probably null
R6143:Col9a2 UTSW 4 121053863 missense probably damaging 0.99
R7027:Col9a2 UTSW 4 121044019 critical splice donor site probably null
R7056:Col9a2 UTSW 4 121049716 critical splice donor site probably null
R7417:Col9a2 UTSW 4 121054292 missense not run
R7571:Col9a2 UTSW 4 121039784 missense unknown
Z1176:Col9a2 UTSW 4 121053797 missense probably damaging 1.00
Posted On2015-12-18