Incidental Mutation 'R9523:Col8a2'
ID 719002
Institutional Source Beutler Lab
Gene Symbol Col8a2
Ensembl Gene ENSMUSG00000056174
Gene Name collagen, type VIII, alpha 2
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.407) question?
Stock # R9523 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 126180587-126208123 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126205273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 428 (T428A)
Ref Sequence ENSEMBL: ENSMUSP00000070270 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070132] [ENSMUST00000102617] [ENSMUST00000128435]
AlphaFold P25318
Predicted Effect unknown
Transcript: ENSMUST00000070132
AA Change: T428A
SMART Domains Protein: ENSMUSP00000070270
Gene: ENSMUSG00000056174
AA Change: T428A

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: ENSMUST00000102617
SMART Domains Protein: ENSMUSP00000099677
Gene: ENSMUSG00000042558

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
Pfam:ADP_ribosyl_GH 31 344 1.5e-68 PFAM
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik A G 5: 107,687,057 (GRCm39) T15A possibly damaging Het
2010315B03Rik G T 9: 124,056,652 (GRCm39) Q91K Het
2210408I21Rik A G 13: 77,407,988 (GRCm39) N419S possibly damaging Het
Abhd2 A G 7: 78,998,020 (GRCm39) E184G probably damaging Het
Adgrg3 T C 8: 95,766,186 (GRCm39) I339T probably benign Het
Adgrv1 C T 13: 81,567,178 (GRCm39) A5332T Het
Akap13 T C 7: 75,293,193 (GRCm39) V42A Het
Akap6 A G 12: 52,842,672 (GRCm39) T7A probably benign Het
Apob A T 12: 8,052,069 (GRCm39) D1170V probably damaging Het
Atad1 A G 19: 32,684,323 (GRCm39) I25T possibly damaging Het
Atp4b G T 8: 13,436,746 (GRCm39) N255K probably damaging Het
Atr C T 9: 95,792,610 (GRCm39) A1644V possibly damaging Het
Bpnt1 T A 1: 185,077,584 (GRCm39) C100S probably damaging Het
C1rl C T 6: 124,484,054 (GRCm39) L203F probably benign Het
Clasp2 T A 9: 113,705,372 (GRCm39) V576D probably damaging Het
Copg2 T A 6: 30,749,505 (GRCm39) probably null Het
Cpn2 C T 16: 30,078,759 (GRCm39) R314H possibly damaging Het
Cpt2 G A 4: 107,764,354 (GRCm39) A470V probably damaging Het
Cyp2a4 C T 7: 26,011,688 (GRCm39) T303I probably damaging Het
Ddx42 A G 11: 106,132,606 (GRCm39) D543G probably benign Het
Dip2a T C 10: 76,112,438 (GRCm39) T1087A probably damaging Het
Fam219b T C 9: 57,444,919 (GRCm39) F6L probably benign Het
Fsip2 G T 2: 82,807,972 (GRCm39) L1430F probably damaging Het
Fstl4 A G 11: 53,075,466 (GRCm39) I573V probably benign Het
Ggnbp2 A T 11: 84,745,188 (GRCm39) S182R probably benign Het
Glud1 A G 14: 34,061,931 (GRCm39) T484A probably benign Het
Gm19410 A G 8: 36,257,608 (GRCm39) N682S probably benign Het
Gnao1 T C 8: 94,622,861 (GRCm39) I55T Het
H2bc15 G T 13: 21,938,305 (GRCm39) A5S unknown Het
Hcn4 C T 9: 58,766,809 (GRCm39) S790L unknown Het
Ighv3-4 T C 12: 114,217,393 (GRCm39) E66G probably damaging Het
Igkv6-23 A G 6: 70,237,526 (GRCm39) S72P probably damaging Het
Kdm7a A C 6: 39,147,767 (GRCm39) Y213D probably damaging Het
Klk15 T G 7: 43,587,770 (GRCm39) M66R possibly damaging Het
Lce1d T A 3: 92,593,363 (GRCm39) T17S unknown Het
Lipt1 T C 1: 37,914,534 (GRCm39) Y197H probably damaging Het
Lrp1b A T 2: 41,660,978 (GRCm39) D157E Het
Ltbp1 A G 17: 75,697,498 (GRCm39) T1697A probably benign Het
Marchf6 T C 15: 31,498,845 (GRCm39) T151A probably benign Het
Muc5b G A 7: 141,396,116 (GRCm39) R124H unknown Het
Myo5b A G 18: 74,861,968 (GRCm39) N1320S possibly damaging Het
Myt1l T A 12: 29,877,611 (GRCm39) S421T unknown Het
Nav1 A T 1: 135,379,929 (GRCm39) M1531K unknown Het
Nlrp4e A G 7: 23,054,636 (GRCm39) D930G probably benign Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Or51a6 A G 7: 102,604,464 (GRCm39) S115P probably damaging Het
Or5b112 G T 19: 13,319,848 (GRCm39) C242F probably damaging Het
Or5b120 A T 19: 13,479,712 (GRCm39) M2L probably benign Het
Or5d47 A T 2: 87,804,945 (GRCm39) Y21* probably null Het
Or6k14 A T 1: 173,927,608 (GRCm39) I195F probably damaging Het
Or7g30 G A 9: 19,352,580 (GRCm39) V124I possibly damaging Het
Oxct2b A T 4: 123,011,483 (GRCm39) I468F probably damaging Het
Pcdhgb7 T A 18: 37,886,636 (GRCm39) L602Q probably damaging Het
Prrc2c A G 1: 162,525,298 (GRCm39) V1862A unknown Het
Rad54l2 C T 9: 106,573,151 (GRCm39) R1110H probably damaging Het
Rere T A 4: 150,703,636 (GRCm39) H180Q probably damaging Het
Rtl1 C T 12: 109,561,113 (GRCm39) R242Q unknown Het
Sfxn4 T C 19: 60,845,807 (GRCm39) D63G probably damaging Het
Strn C T 17: 78,967,575 (GRCm39) A579T probably benign Het
Stxbp3 A G 3: 108,747,756 (GRCm39) L10P probably damaging Het
Swi5 T C 2: 32,170,739 (GRCm39) M95V possibly damaging Het
Tln2 T C 9: 67,165,766 (GRCm39) Y1027C probably damaging Het
Tmem65 A G 15: 58,662,002 (GRCm39) probably null Het
Tox4 C T 14: 52,529,166 (GRCm39) P376S probably benign Het
Tsg101 C T 7: 46,542,308 (GRCm39) G215D possibly damaging Het
Utp18 A G 11: 93,768,833 (GRCm39) S226P probably damaging Het
Vipr2 T C 12: 116,093,788 (GRCm39) S174P probably damaging Het
Vmn2r24 G T 6: 123,763,950 (GRCm39) V276F possibly damaging Het
Wdr26 T C 1: 181,013,620 (GRCm39) R418G probably benign Het
Zfp235 T C 7: 23,840,381 (GRCm39) Y267H probably benign Het
Other mutations in Col8a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Col8a2 APN 4 126,203,584 (GRCm39) missense probably damaging 0.99
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
Z1177:Col8a2 UTSW 4 126,205,336 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCTTAGGAGACAGAGGTGAGCC -3'
(R):5'- ATACCAGTCTCATCCAGGGCTC -3'

Sequencing Primer
(F):5'- AGGGCTTCCTGGTAGACG -3'
(R):5'- AGGAGGACCTGTGAGTCCTG -3'
Posted On 2022-07-18