Incidental Mutation 'R4730:Col4a2'
ID 358763
Institutional Source Beutler Lab
Gene Symbol Col4a2
Ensembl Gene ENSMUSG00000031503
Gene Name collagen, type IV, alpha 2
Synonyms Col4a-2
MMRRC Submission 041990-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4730 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 11362805-11499287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11487590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 964 (N964S)
Ref Sequence ENSEMBL: ENSMUSP00000033899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033899]
AlphaFold P08122
Predicted Effect probably benign
Transcript: ENSMUST00000033899
AA Change: N964S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: N964S

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 99% (70/71)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff1 A G 5: 103,990,939 (GRCm39) Q963R possibly damaging Het
Arhgef28 C T 13: 98,114,650 (GRCm39) E645K probably benign Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Duox1 T G 2: 122,164,312 (GRCm39) L924R probably damaging Het
Edem2 T C 2: 155,547,618 (GRCm39) E398G possibly damaging Het
Engase A G 11: 118,373,748 (GRCm39) N297D probably damaging Het
Esp4 A C 17: 40,913,445 (GRCm39) Y104S unknown Het
Esp4 C A 17: 40,913,446 (GRCm39) Y104* probably null Het
Fat1 A T 8: 45,486,514 (GRCm39) N3356I probably damaging Het
Gm3867 T A 9: 36,168,550 (GRCm39) noncoding transcript Het
Gm6818 C T 7: 38,101,918 (GRCm39) noncoding transcript Het
Grip2 T C 6: 91,762,693 (GRCm39) *175W probably null Het
Gucy1b2 A G 14: 62,645,208 (GRCm39) V617A probably damaging Het
Gzmc C T 14: 56,469,089 (GRCm39) C210Y probably damaging Het
Hmg20a T A 9: 56,374,703 (GRCm39) S20T possibly damaging Het
Hs3st1 A T 5: 39,772,148 (GRCm39) L165* probably null Het
Ighv1-26 A G 12: 114,752,409 (GRCm39) I6T probably benign Het
Kcnk13 A G 12: 100,027,974 (GRCm39) K350E probably damaging Het
Lin9 T A 1: 180,493,416 (GRCm39) L198* probably null Het
Lrfn5 C T 12: 61,887,505 (GRCm39) A431V probably benign Het
Lta C T 17: 35,423,065 (GRCm39) R86Q probably benign Het
Map3k4 T A 17: 12,467,861 (GRCm39) I1058L probably damaging Het
Mtif2 T A 11: 29,490,834 (GRCm39) S513T probably benign Het
Muc4 C T 16: 32,570,032 (GRCm39) T364I possibly damaging Het
Nav1 C A 1: 135,535,049 (GRCm39) probably benign Het
Nfrkb T C 9: 31,321,547 (GRCm39) V748A probably benign Het
Obox6 A T 7: 15,568,738 (GRCm39) M46K possibly damaging Het
Or5g25 T C 2: 85,478,336 (GRCm39) T110A probably benign Het
Or5k1b T C 16: 58,581,105 (GRCm39) I145V probably benign Het
Or5t17 C T 2: 86,832,510 (GRCm39) R66W possibly damaging Het
Or6c33 G A 10: 129,853,416 (GRCm39) R62Q probably damaging Het
Or9g19 G T 2: 85,600,405 (GRCm39) E87* probably null Het
P4htm A G 9: 108,456,971 (GRCm39) V412A possibly damaging Het
Phb2 T C 6: 124,690,086 (GRCm39) S92P probably damaging Het
Phtf1 G T 3: 103,894,751 (GRCm39) R147L probably damaging Het
Pigk C T 3: 152,448,203 (GRCm39) Q189* probably null Het
Plxnc1 G A 10: 94,703,330 (GRCm39) probably benign Het
Prrx1 A G 1: 163,140,182 (GRCm39) V8A probably benign Het
Ptprg G A 14: 12,213,713 (GRCm38) G252D probably damaging Het
Rnf4 G T 5: 34,508,147 (GRCm39) V134F possibly damaging Het
Scarf2 A G 16: 17,620,877 (GRCm39) T182A probably damaging Het
Setd1a A G 7: 127,396,502 (GRCm39) probably benign Het
Sgpp1 A G 12: 75,781,713 (GRCm39) F209L probably benign Het
Sh3d19 T A 3: 86,024,171 (GRCm39) S567T possibly damaging Het
Slc4a2 C T 5: 24,639,878 (GRCm39) R520W probably damaging Het
Slf1 T C 13: 77,194,751 (GRCm39) Q858R probably damaging Het
Slitrk3 G T 3: 72,956,852 (GRCm39) A640E probably benign Het
Smarca2 A G 19: 26,608,073 (GRCm39) Y44C probably damaging Het
Spon1 A G 7: 113,632,306 (GRCm39) E543G possibly damaging Het
Strn4 A G 7: 16,562,719 (GRCm39) Q286R possibly damaging Het
Suz12 T C 11: 79,892,988 (GRCm39) probably benign Het
Syna T A 5: 134,587,440 (GRCm39) E503V probably damaging Het
Syt14 C T 1: 192,613,094 (GRCm39) D569N probably damaging Het
Sytl2 A G 7: 90,030,457 (GRCm39) probably benign Het
Tmprss11g G T 5: 86,637,091 (GRCm39) S335* probably null Het
Tmprss11g A T 5: 86,637,092 (GRCm39) S335T probably damaging Het
Trim66 A G 7: 109,082,276 (GRCm39) S226P probably damaging Het
Tubgcp3 T C 8: 12,707,654 (GRCm39) T112A probably benign Het
Ulk4 T C 9: 121,092,791 (GRCm39) S149G probably benign Het
Usp53 T C 3: 122,756,582 (GRCm39) D108G probably null Het
Vmn1r91 A T 7: 19,835,695 (GRCm39) T205S possibly damaging Het
Other mutations in Col4a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Col4a2 APN 8 11,493,685 (GRCm39) missense probably damaging 1.00
IGL00485:Col4a2 APN 8 11,489,012 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGGAATGCAGTTGCCCTGTG -3'
(R):5'- GCTAGAGACCATGACCCAGAAG -3'

Sequencing Primer
(F):5'- CAGTTGCCCTGTGCTCTGAG -3'
(R):5'- CCAAGACCGATGAGGCACG -3'
Posted On 2015-11-11