Incidental Mutation 'IGL00485:Col4a2'
ID 5073
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col4a2
Ensembl Gene ENSMUSG00000031503
Gene Name collagen, type IV, alpha 2
Synonyms Col4a-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00485
Quality Score
Status
Chromosome 8
Chromosomal Location 11362805-11499287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11489012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 1133 (M1133V)
Ref Sequence ENSEMBL: ENSMUSP00000033899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033899]
AlphaFold P08122
Predicted Effect probably benign
Transcript: ENSMUST00000033899
AA Change: M1133V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: M1133V

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Collagen 56 119 1.2e-10 PFAM
Pfam:Collagen 112 174 3.9e-8 PFAM
low complexity region 193 229 N/A INTRINSIC
Pfam:Collagen 289 348 1.3e-10 PFAM
low complexity region 370 389 N/A INTRINSIC
low complexity region 427 445 N/A INTRINSIC
Pfam:Collagen 488 546 2e-10 PFAM
Pfam:Collagen 590 655 4.5e-9 PFAM
low complexity region 665 673 N/A INTRINSIC
Pfam:Collagen 674 731 3.5e-10 PFAM
Pfam:Collagen 714 775 4.3e-10 PFAM
Pfam:Collagen 773 831 1.5e-10 PFAM
Pfam:Collagen 861 935 8.1e-10 PFAM
Pfam:Collagen 915 976 1.1e-9 PFAM
Pfam:Collagen 978 1038 2.6e-8 PFAM
Pfam:Collagen 1027 1091 1.7e-10 PFAM
Pfam:Collagen 1094 1155 5.5e-11 PFAM
Pfam:Collagen 1147 1211 1e-10 PFAM
Pfam:Collagen 1271 1340 2.1e-8 PFAM
Pfam:Collagen 1330 1392 7.1e-10 PFAM
C4 1484 1591 7.85e-59 SMART
C4 1592 1706 7.65e-71 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146219
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the alpha-2 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of alpha-1 and alpha-2 subunits that assembles into a type IV collagen network. Canstatin, a peptide derived fom the C-terminus of the collagen chain, is a matrikine that has been shown to inhibit angiogenesis. Homozygous knockout mice for this gene exhibit impaired basement membrane integrity and embryonic lethality. This gene shares a bi-directional promoter with a related gene on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: ENU-induced missense mutations of this gene result in a variable phenotype affecting the eye, brain and vascular stability in heterozygotes, and fetal or postnatal survival in homozygotes. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(1) Gene trapped(6) Chemically induced(3)

Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap23 G A 11: 97,383,497 (GRCm39) probably benign Het
Arhgef37 G A 18: 61,656,942 (GRCm39) T41I probably damaging Het
Brms1 A C 19: 5,099,070 (GRCm39) probably benign Het
Cdkn1a C A 17: 29,317,494 (GRCm39) A38E possibly damaging Het
Ctps1 T C 4: 120,410,141 (GRCm39) Y314C probably damaging Het
Defa30 T A 8: 21,625,467 (GRCm39) M77K probably benign Het
Eif3a T C 19: 60,758,328 (GRCm39) R817G unknown Het
Entrep1 G A 19: 23,962,086 (GRCm39) R306W probably damaging Het
Ftdc2 A G 16: 58,455,854 (GRCm39) Y140H probably damaging Het
Greb1l A G 18: 10,555,962 (GRCm39) S1725G possibly damaging Het
Hmgxb4 T C 8: 75,756,131 (GRCm39) S545P probably damaging Het
Hrob C T 11: 102,146,783 (GRCm39) S353F possibly damaging Het
Kif13b A G 14: 65,002,522 (GRCm39) E1049G possibly damaging Het
Mug1 T C 6: 121,864,375 (GRCm39) V1424A probably benign Het
Nlrp2 A G 7: 5,340,547 (GRCm39) V89A probably benign Het
Osbpl11 T G 16: 33,062,115 (GRCm39) W741G probably damaging Het
Pam A G 1: 97,750,678 (GRCm39) V914A possibly damaging Het
Phldb2 T A 16: 45,577,551 (GRCm39) I1117F possibly damaging Het
Pign A T 1: 105,525,448 (GRCm39) L460* probably null Het
Pramel31 G A 4: 144,090,012 (GRCm39) V351I probably damaging Het
Prdm10 A T 9: 31,238,842 (GRCm39) I196F possibly damaging Het
Stk36 T C 1: 74,673,244 (GRCm39) S1044P probably benign Het
Trim43b T C 9: 88,973,695 (GRCm39) T13A probably benign Het
Unc5b T C 10: 60,618,995 (GRCm39) Y49C possibly damaging Het
Urb2 T C 8: 124,755,433 (GRCm39) I380T probably damaging Het
Zfyve27 T A 19: 42,171,872 (GRCm39) C229S probably benign Het
Other mutations in Col4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Col4a2 APN 8 11,493,685 (GRCm39) missense probably damaging 1.00
IGL00909:Col4a2 APN 8 11,498,167 (GRCm39) missense possibly damaging 0.91
IGL01574:Col4a2 APN 8 11,489,306 (GRCm39) missense probably damaging 1.00
IGL01914:Col4a2 APN 8 11,464,754 (GRCm39) missense possibly damaging 0.57
IGL02147:Col4a2 APN 8 11,458,140 (GRCm39) missense probably benign 0.28
IGL02205:Col4a2 APN 8 11,481,305 (GRCm39) nonsense probably null
IGL02423:Col4a2 APN 8 11,483,800 (GRCm39) missense probably benign
IGL03131:Col4a2 APN 8 11,475,979 (GRCm39) missense probably benign
band UTSW 8 11,498,225 (GRCm39) missense probably benign 0.00
Binder UTSW 8 11,466,070 (GRCm39) missense probably damaging 1.00
G4846:Col4a2 UTSW 8 11,458,872 (GRCm39) splice site probably benign
IGL03054:Col4a2 UTSW 8 11,498,270 (GRCm39) missense probably damaging 0.96
R0087:Col4a2 UTSW 8 11,491,296 (GRCm39) missense probably benign
R0124:Col4a2 UTSW 8 11,458,871 (GRCm39) splice site probably benign
R0603:Col4a2 UTSW 8 11,464,779 (GRCm39) missense probably benign
R0646:Col4a2 UTSW 8 11,481,252 (GRCm39) missense probably benign 0.17
R0970:Col4a2 UTSW 8 11,465,438 (GRCm39) missense probably benign 0.00
R1738:Col4a2 UTSW 8 11,496,238 (GRCm39) missense probably damaging 1.00
R1746:Col4a2 UTSW 8 11,496,020 (GRCm39) missense probably benign 0.35
R1826:Col4a2 UTSW 8 11,363,509 (GRCm39) critical splice donor site probably null
R1834:Col4a2 UTSW 8 11,452,997 (GRCm39) missense probably benign 0.10
R2016:Col4a2 UTSW 8 11,495,086 (GRCm39) missense probably benign 0.04
R2017:Col4a2 UTSW 8 11,495,086 (GRCm39) missense probably benign 0.04
R2124:Col4a2 UTSW 8 11,466,070 (GRCm39) missense probably damaging 1.00
R2137:Col4a2 UTSW 8 11,483,749 (GRCm39) missense probably benign
R2207:Col4a2 UTSW 8 11,493,352 (GRCm39) missense probably damaging 1.00
R3156:Col4a2 UTSW 8 11,363,414 (GRCm39) unclassified probably benign
R4169:Col4a2 UTSW 8 11,479,391 (GRCm39) missense probably benign 0.22
R4679:Col4a2 UTSW 8 11,481,337 (GRCm39) missense possibly damaging 0.68
R4705:Col4a2 UTSW 8 11,363,504 (GRCm39) missense possibly damaging 0.52
R4710:Col4a2 UTSW 8 11,459,462 (GRCm39) missense probably benign 0.22
R4716:Col4a2 UTSW 8 11,452,224 (GRCm39) missense probably damaging 1.00
R4730:Col4a2 UTSW 8 11,487,590 (GRCm39) missense probably benign
R4732:Col4a2 UTSW 8 11,496,197 (GRCm39) missense probably benign 0.02
R4732:Col4a2 UTSW 8 11,464,779 (GRCm39) missense probably benign
R4733:Col4a2 UTSW 8 11,496,197 (GRCm39) missense probably benign 0.02
R4733:Col4a2 UTSW 8 11,464,779 (GRCm39) missense probably benign
R4834:Col4a2 UTSW 8 11,456,836 (GRCm39) nonsense probably null
R4835:Col4a2 UTSW 8 11,473,570 (GRCm39) nonsense probably null
R4953:Col4a2 UTSW 8 11,479,505 (GRCm39) missense probably benign 0.02
R5078:Col4a2 UTSW 8 11,493,936 (GRCm39) missense probably benign
R5204:Col4a2 UTSW 8 11,448,651 (GRCm39) splice site probably null
R5221:Col4a2 UTSW 8 11,498,225 (GRCm39) missense probably benign 0.00
R5355:Col4a2 UTSW 8 11,495,984 (GRCm39) missense probably damaging 0.96
R5478:Col4a2 UTSW 8 11,448,697 (GRCm39) missense probably benign 0.21
R5492:Col4a2 UTSW 8 11,488,608 (GRCm39) missense possibly damaging 0.82
R5646:Col4a2 UTSW 8 11,491,281 (GRCm39) missense probably damaging 1.00
R5857:Col4a2 UTSW 8 11,475,442 (GRCm39) missense probably damaging 1.00
R5948:Col4a2 UTSW 8 11,470,600 (GRCm39) missense probably benign 0.21
R6329:Col4a2 UTSW 8 11,496,238 (GRCm39) missense probably damaging 1.00
R6496:Col4a2 UTSW 8 11,452,994 (GRCm39) missense probably damaging 1.00
R6496:Col4a2 UTSW 8 11,452,993 (GRCm39) nonsense probably null
R6531:Col4a2 UTSW 8 11,458,135 (GRCm39) missense probably benign 0.00
R7185:Col4a2 UTSW 8 11,449,739 (GRCm39) missense probably damaging 0.99
R7196:Col4a2 UTSW 8 11,448,693 (GRCm39) missense probably damaging 1.00
R7266:Col4a2 UTSW 8 11,475,542 (GRCm39) critical splice donor site probably null
R7308:Col4a2 UTSW 8 11,456,856 (GRCm39) critical splice donor site probably null
R7341:Col4a2 UTSW 8 11,448,678 (GRCm39) missense probably damaging 0.97
R7394:Col4a2 UTSW 8 11,496,184 (GRCm39) missense probably benign 0.00
R7434:Col4a2 UTSW 8 11,471,250 (GRCm39) missense probably damaging 1.00
R7606:Col4a2 UTSW 8 11,493,571 (GRCm39) missense probably benign 0.00
R7646:Col4a2 UTSW 8 11,495,086 (GRCm39) missense probably benign 0.04
R7712:Col4a2 UTSW 8 11,475,376 (GRCm39) missense probably benign
R7752:Col4a2 UTSW 8 11,479,358 (GRCm39) missense probably benign 0.38
R7844:Col4a2 UTSW 8 11,475,453 (GRCm39) nonsense probably null
R7901:Col4a2 UTSW 8 11,479,358 (GRCm39) missense probably benign 0.38
R8186:Col4a2 UTSW 8 11,475,542 (GRCm39) critical splice donor site probably null
R8331:Col4a2 UTSW 8 11,463,985 (GRCm39) nonsense probably null
R8389:Col4a2 UTSW 8 11,498,132 (GRCm39) missense probably damaging 1.00
R8547:Col4a2 UTSW 8 11,479,305 (GRCm39) critical splice acceptor site probably null
R8927:Col4a2 UTSW 8 11,475,543 (GRCm39) splice site probably null
R9051:Col4a2 UTSW 8 11,498,198 (GRCm39) missense probably damaging 1.00
R9088:Col4a2 UTSW 8 11,493,227 (GRCm39) missense possibly damaging 0.91
R9221:Col4a2 UTSW 8 11,491,943 (GRCm39) missense possibly damaging 0.89
R9323:Col4a2 UTSW 8 11,493,413 (GRCm39) missense possibly damaging 0.56
R9337:Col4a2 UTSW 8 11,479,346 (GRCm39) missense probably benign 0.00
R9377:Col4a2 UTSW 8 11,483,725 (GRCm39) missense probably damaging 1.00
R9697:Col4a2 UTSW 8 11,487,628 (GRCm39) missense probably benign 0.34
R9701:Col4a2 UTSW 8 11,493,104 (GRCm39) missense probably benign 0.00
R9729:Col4a2 UTSW 8 11,496,157 (GRCm39) missense probably benign 0.08
R9802:Col4a2 UTSW 8 11,493,104 (GRCm39) missense probably benign 0.00
Posted On 2012-04-20