Incidental Mutation 'R2866:Col8a2'
ID 253220
Institutional Source Beutler Lab
Gene Symbol Col8a2
Ensembl Gene ENSMUSG00000056174
Gene Name collagen, type VIII, alpha 2
Synonyms
MMRRC Submission 040455-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.305) question?
Stock # R2866 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 126180587-126208123 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 126204992 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123003 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070132] [ENSMUST00000102617] [ENSMUST00000128435]
AlphaFold P25318
Predicted Effect unknown
Transcript: ENSMUST00000070132
AA Change: D334G
SMART Domains Protein: ENSMUSP00000070270
Gene: ENSMUSG00000056174
AA Change: D334G

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 noncoding transcript
Transcript: ENSMUST00000128188
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151191
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atmin T A 8: 117,683,112 (GRCm39) D257E probably benign Het
Best1 T C 19: 9,963,585 (GRCm39) E532G probably benign Het
Cenpj T C 14: 56,789,637 (GRCm39) H804R probably benign Het
Clec2g T C 6: 128,925,719 (GRCm39) S43P probably benign Het
Cpz T C 5: 35,659,705 (GRCm39) K647E probably benign Het
Csmd2 T C 4: 128,308,185 (GRCm39) probably null Het
Ctss A G 3: 95,452,717 (GRCm39) K166R probably benign Het
Cyp2c23 T C 19: 43,993,885 (GRCm39) R494G probably damaging Het
Cyp2c68 A G 19: 39,677,589 (GRCm39) I467T probably damaging Het
Dcaf11 A T 14: 55,803,202 (GRCm39) T299S possibly damaging Het
Dennd1b A G 1: 139,098,019 (GRCm39) S762G possibly damaging Het
Epb42 C T 2: 120,856,402 (GRCm39) A381T possibly damaging Het
Fhad1 A G 4: 141,648,099 (GRCm39) Y256H probably benign Het
Gfra1 C T 19: 58,227,739 (GRCm39) A395T possibly damaging Het
Gm10323 C A 13: 67,002,574 (GRCm39) C55F probably benign Het
Greb1 T C 12: 16,749,551 (GRCm39) S1092G probably damaging Het
Grid1 A T 14: 35,284,516 (GRCm39) D753V probably damaging Het
Grin2b A G 6: 135,710,637 (GRCm39) F970L probably damaging Het
Kcnma1 A T 14: 23,423,275 (GRCm39) N682K probably benign Het
Lat2 T A 5: 134,634,798 (GRCm39) D114V probably damaging Het
Lcat C T 8: 106,666,511 (GRCm39) C337Y probably damaging Het
Mapk10 C T 5: 103,186,548 (GRCm39) D25N probably benign Het
Mroh7 C T 4: 106,548,287 (GRCm39) G1064R probably damaging Het
Muc21 T C 17: 35,930,599 (GRCm39) probably benign Het
Or10h5 T A 17: 33,435,252 (GRCm39) H22L probably benign Het
Or51ah3 A T 7: 103,210,064 (GRCm39) I127F probably damaging Het
Or5p5 T A 7: 107,414,126 (GRCm39) C112S probably benign Het
Or8k39 A T 2: 86,563,773 (GRCm39) F61Y possibly damaging Het
Polr1has A T 17: 37,276,052 (GRCm39) R211S possibly damaging Het
Psg27 T A 7: 18,295,818 (GRCm39) D209V probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Pzp A G 6: 128,502,227 (GRCm39) S41P possibly damaging Het
Rab23 A T 1: 33,777,376 (GRCm39) K163N possibly damaging Het
Rilpl2 T C 5: 124,615,898 (GRCm39) D84G probably damaging Het
Sorl1 A G 9: 41,881,077 (GRCm39) I2148T probably benign Het
Tead1 A G 7: 112,358,694 (GRCm39) E2G probably damaging Het
Tigd4 A G 3: 84,501,259 (GRCm39) N59D possibly damaging Het
Tmprss15 T A 16: 78,832,121 (GRCm39) D345V possibly damaging Het
Togaram2 T C 17: 72,016,592 (GRCm39) S649P probably benign Het
Ucp2 T C 7: 100,146,459 (GRCm39) V95A probably benign Het
Usp17lb T C 7: 104,489,955 (GRCm39) D323G probably damaging Het
Zfp677 A T 17: 21,617,518 (GRCm39) K192* probably null Het
Zmym2 T A 14: 57,165,705 (GRCm39) I676K probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACAAAGGTGATTCTGGCCCC -3'
(R):5'- TTGGTCTCCTCGAATGCCAG -3'

Sequencing Primer
(F):5'- TGTGGGTCCAAAAGGCCCTC -3'
(R):5'- TCCTCGAATGCCAGGCACTC -3'
Posted On 2014-12-04