Incidental Mutation 'IGL00952:Col8a2'
ID 27293
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col8a2
Ensembl Gene ENSMUSG00000056174
Gene Name collagen, type VIII, alpha 2
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.407) question?
Stock # IGL00952
Quality Score
Status
Chromosome 4
Chromosomal Location 126180587-126208123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126203584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 59 (Y59C)
Ref Sequence ENSEMBL: ENSMUSP00000070270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070132] [ENSMUST00000128435]
AlphaFold P25318
Predicted Effect probably damaging
Transcript: ENSMUST00000070132
AA Change: Y59C

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000070270
Gene: ENSMUSG00000056174
AA Change: Y59C

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 25 33 N/A INTRINSIC
low complexity region 60 69 N/A INTRINSIC
low complexity region 72 105 N/A INTRINSIC
Pfam:Collagen 116 168 1.2e-9 PFAM
low complexity region 207 237 N/A INTRINSIC
internal_repeat_1 240 259 1.3e-7 PROSPERO
low complexity region 260 327 N/A INTRINSIC
low complexity region 342 387 N/A INTRINSIC
internal_repeat_1 388 407 1.3e-7 PROSPERO
low complexity region 408 429 N/A INTRINSIC
low complexity region 440 459 N/A INTRINSIC
low complexity region 471 530 N/A INTRINSIC
low complexity region 545 557 N/A INTRINSIC
C1Q 564 699 2.44e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128435
SMART Domains Protein: ENSMUSP00000123003
Gene: ENSMUSG00000056174

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 25 33 N/A INTRINSIC
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 the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a thinner Descemet's membrane of the cornea. Mice heterozygous or homozygous for an ENU-induced mutation exhibit thin cornea, corneal epithelium, stroma, and Descemet membrane, and enlarged anterior chamber. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik T G 6: 40,941,733 (GRCm39) I4S probably benign Het
Abca8b A G 11: 109,859,886 (GRCm39) probably null Het
Aftph A T 11: 20,677,483 (GRCm39) V42E probably damaging Het
AI467606 A G 7: 126,691,874 (GRCm39) S150G probably damaging Het
Art4 T C 6: 136,831,818 (GRCm39) N108D possibly damaging Het
B9d1 G A 11: 61,403,504 (GRCm39) V167I possibly damaging Het
Ccdc47 A T 11: 106,094,358 (GRCm39) probably null Het
Ccdc96 T A 5: 36,642,424 (GRCm39) probably benign Het
Cfap44 A G 16: 44,241,638 (GRCm39) I670V probably benign Het
Col18a1 T G 10: 76,905,813 (GRCm39) K909Q possibly damaging Het
Coro6 A T 11: 77,359,291 (GRCm39) D288V probably damaging Het
Cul4a C T 8: 13,196,562 (GRCm39) L739F probably damaging Het
Dmxl2 C T 9: 54,324,166 (GRCm39) V1073I probably damaging Het
Dnah11 T C 12: 118,160,386 (GRCm39) T115A possibly damaging Het
Fdx2 A G 9: 20,984,558 (GRCm39) probably null Het
Flnc C T 6: 29,459,546 (GRCm39) Q2549* probably null Het
Foxn2 T C 17: 88,783,308 (GRCm39) C188R probably benign Het
Hnrnpm C A 17: 33,868,876 (GRCm39) R517L probably damaging Het
Ilf3 T C 9: 21,307,347 (GRCm39) L343P probably damaging Het
Itgb2l C T 16: 96,227,950 (GRCm39) G518S probably damaging Het
Itpr2 T A 6: 146,060,459 (GRCm39) I2486F probably damaging Het
Kat2a A G 11: 100,596,977 (GRCm39) V681A probably damaging Het
Kif17 A G 4: 137,990,019 (GRCm39) N69S possibly damaging Het
Kif26b G A 1: 178,759,770 (GRCm39) D2106N probably damaging Het
Klf6 A G 13: 5,911,680 (GRCm39) T15A probably benign Het
Lyst A G 13: 13,852,692 (GRCm39) T2231A probably benign Het
Mark4 T C 7: 19,165,749 (GRCm39) T515A possibly damaging Het
Mast3 A T 8: 71,233,327 (GRCm39) probably benign Het
Nalcn T C 14: 123,586,201 (GRCm39) K722R probably benign Het
Ncf2 G A 1: 152,711,857 (GRCm39) E524K probably benign Het
Or56a3b A G 7: 104,771,614 (GRCm39) probably null Het
Or5p81 A G 7: 108,267,445 (GRCm39) N274S possibly damaging Het
Or5w12 A T 2: 87,502,159 (GRCm39) I184N probably damaging Het
Or8c17 A T 9: 38,179,801 (GRCm39) probably benign Het
Plcg2 A T 8: 118,333,956 (GRCm39) M910L probably benign Het
Pramel14 T C 4: 143,719,894 (GRCm39) H157R probably benign Het
Rai1 A T 11: 60,078,818 (GRCm39) K961* probably null Het
Rsph14 T C 10: 74,865,601 (GRCm39) D112G probably benign Het
Sgo1 T A 17: 53,994,275 (GRCm39) D59V probably damaging Het
Slc22a29 A T 19: 8,195,221 (GRCm39) V138E probably damaging Het
Slc9a1 T A 4: 133,143,693 (GRCm39) V393D probably damaging Het
Smg6 A G 11: 74,819,974 (GRCm39) R82G probably benign Het
Sppl3 T C 5: 115,212,935 (GRCm39) S55P probably benign Het
Srsf12 A C 4: 33,226,103 (GRCm39) Q122P possibly damaging Het
Tas1r2 T C 4: 139,382,563 (GRCm39) M67T probably benign Het
Thnsl1 G A 2: 21,216,767 (GRCm39) V174I possibly damaging Het
Thumpd1 A G 7: 119,316,232 (GRCm39) V239A possibly damaging Het
Tnxb T G 17: 34,932,102 (GRCm39) Y2212D probably damaging Het
Trim40 T C 17: 37,193,289 (GRCm39) *213W probably null Het
Ttc16 T C 2: 32,660,259 (GRCm39) D183G probably damaging Het
Other mutations in Col8a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01776:Col8a2 APN 4 126,203,598 (GRCm39) unclassified probably benign
IGL03367:Col8a2 APN 4 126,205,991 (GRCm39) missense probably damaging 1.00
R1861:Col8a2 UTSW 4 126,205,417 (GRCm39) unclassified probably benign
R1909:Col8a2 UTSW 4 126,205,926 (GRCm39) missense possibly damaging 0.63
R2038:Col8a2 UTSW 4 126,205,108 (GRCm39) unclassified probably benign
R2866:Col8a2 UTSW 4 126,204,992 (GRCm39) unclassified probably benign
R4013:Col8a2 UTSW 4 126,204,908 (GRCm39) unclassified probably benign
R4586:Col8a2 UTSW 4 126,204,812 (GRCm39) unclassified probably benign
R4995:Col8a2 UTSW 4 126,204,581 (GRCm39) missense probably damaging 0.98
R5160:Col8a2 UTSW 4 126,204,205 (GRCm39) missense possibly damaging 0.77
R5574:Col8a2 UTSW 4 126,205,061 (GRCm39) unclassified probably benign
R5858:Col8a2 UTSW 4 126,205,093 (GRCm39) unclassified probably benign
R6803:Col8a2 UTSW 4 126,205,793 (GRCm39) missense probably damaging 1.00
R8876:Col8a2 UTSW 4 126,204,647 (GRCm39) missense probably damaging 0.96
R9523:Col8a2 UTSW 4 126,205,273 (GRCm39) missense unknown
Z1177:Col8a2 UTSW 4 126,205,336 (GRCm39) missense unknown
Posted On 2013-04-17