Incidental Mutation 'R2017:Col4a2'
ID 223202
Institutional Source Beutler Lab
Gene Symbol Col4a2
Ensembl Gene ENSMUSG00000031503
Gene Name collagen, type IV, alpha 2
Synonyms Col4a-2
MMRRC Submission 040026-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2017 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 11362805-11499287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11495086 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 1515 (F1515L)
Ref Sequence ENSEMBL: ENSMUSP00000033899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033899]
AlphaFold P08122
Predicted Effect probably benign
Transcript: ENSMUST00000033899
AA Change: F1515L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: F1515L

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700025C18Rik T C 2: 164,920,946 (GRCm39) D29G unknown Het
Abca13 A T 11: 9,240,619 (GRCm39) L827F probably damaging Het
Abcc1 T A 16: 14,279,068 (GRCm39) V1126E probably damaging Het
Abcc12 A G 8: 87,290,617 (GRCm39) L41S probably damaging Het
Adgrg7 T C 16: 56,553,169 (GRCm39) T643A probably benign Het
Angpt2 T C 8: 18,755,747 (GRCm39) N240S probably damaging Het
Apc A G 18: 34,446,655 (GRCm39) T1150A probably benign Het
Apob G A 12: 8,057,751 (GRCm39) D2078N possibly damaging Het
Apool T A X: 111,274,258 (GRCm39) S234T probably benign Het
Ascc3 C T 10: 50,566,307 (GRCm39) P751S probably benign Het
Astn2 G A 4: 65,459,178 (GRCm39) T1079I probably damaging Het
Atp8b1 T C 18: 64,673,405 (GRCm39) N989S probably damaging Het
B3gnt2 T C 11: 22,786,621 (GRCm39) D189G probably damaging Het
Bcas1 A C 2: 170,190,081 (GRCm39) probably null Het
Btk T C X: 133,448,350 (GRCm39) D355G probably benign Het
C2cd4c A G 10: 79,448,823 (GRCm39) V108A possibly damaging Het
Cbfa2t2 T C 2: 154,359,727 (GRCm39) L264P probably damaging Het
Cd22 A T 7: 30,572,205 (GRCm39) L423Q probably damaging Het
Cep128 T C 12: 91,333,238 (GRCm39) D9G probably damaging Het
Cer1 A T 4: 82,801,120 (GRCm39) V181D probably damaging Het
Ciita T C 16: 10,329,540 (GRCm39) L584P probably damaging Het
Cmss1 T C 16: 57,136,641 (GRCm39) D77G probably damaging Het
Cyria T A 12: 12,412,362 (GRCm39) V208D probably damaging Het
Dcaf1 A G 9: 106,725,122 (GRCm39) E536G probably damaging Het
Dcaf1 T A 9: 106,716,287 (GRCm39) D360E probably benign Het
Dnah2 T A 11: 69,327,896 (GRCm39) I3370F probably damaging Het
Dsg1c T C 18: 20,399,253 (GRCm39) V119A possibly damaging Het
Edn3 A G 2: 174,620,455 (GRCm39) E103G probably benign Het
Efemp1 G T 11: 28,871,613 (GRCm39) R376L probably damaging Het
Eid1 A G 2: 125,515,121 (GRCm39) M4V probably benign Het
Emilin3 G A 2: 160,751,530 (GRCm39) R170C possibly damaging Het
Epx T C 11: 87,765,163 (GRCm39) D178G probably damaging Het
Fkbp10 G A 11: 100,312,499 (GRCm39) V252I possibly damaging Het
Flnc G A 6: 29,443,796 (GRCm39) probably null Het
Fsip2 A G 2: 82,813,076 (GRCm39) K3132E possibly damaging Het
Gla C T X: 133,497,071 (GRCm39) A39T probably damaging Het
Hivep2 C T 10: 14,006,501 (GRCm39) T1033M probably damaging Het
Hsd17b8 A T 17: 34,245,187 (GRCm39) M259K probably damaging Het
Ift70a1 A G 2: 75,811,801 (GRCm39) L94P probably benign Het
Ikzf4 C T 10: 128,470,026 (GRCm39) G498D probably damaging Het
Impg1 T C 9: 80,322,720 (GRCm39) Y95C probably damaging Het
Ino80c T A 18: 24,244,810 (GRCm39) K136* probably null Het
Iqsec1 A C 6: 90,666,912 (GRCm39) H508Q probably benign Het
Itgb3 A G 11: 104,528,788 (GRCm39) H305R possibly damaging Het
Jup T A 11: 100,277,167 (GRCm39) T14S probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klf12 T C 14: 100,260,073 (GRCm39) R219G possibly damaging Het
Klhl42 G T 6: 147,009,291 (GRCm39) V377L probably benign Het
Large1 A G 8: 73,578,825 (GRCm39) F460S probably damaging Het
Loxl3 A T 6: 83,025,958 (GRCm39) D402V probably damaging Het
Lrrc37a T A 11: 103,391,951 (GRCm39) Y1158F probably benign Het
Map2 T A 1: 66,451,958 (GRCm39) S365T probably damaging Het
Mapk8ip1 A G 2: 92,221,379 (GRCm39) probably null Het
Med26 A G 8: 73,250,791 (GRCm39) S103P probably damaging Het
Muc4 T C 16: 32,570,121 (GRCm39) S394P possibly damaging Het
Nle1 G T 11: 82,796,373 (GRCm39) P166Q probably damaging Het
Obox5 T C 7: 15,492,807 (GRCm39) I254T probably benign Het
Or1p1c T A 11: 74,161,159 (GRCm39) W315R probably benign Het
Or4g7 G T 2: 111,309,532 (GRCm39) M134I probably benign Het
Or52j3 T C 7: 102,836,137 (GRCm39) F110L probably benign Het
Or7c19 T C 8: 85,957,373 (GRCm39) L83P possibly damaging Het
Pacs2 A T 12: 113,026,077 (GRCm39) N545Y probably damaging Het
Palld T C 8: 62,137,799 (GRCm39) E652G probably damaging Het
Pgm5 T C 19: 24,801,676 (GRCm39) N184S probably benign Het
Pitpnm1 T C 19: 4,161,873 (GRCm39) V955A probably benign Het
Plcb1 T A 2: 135,204,340 (GRCm39) I898N possibly damaging Het
Pramel13 A G 4: 144,121,244 (GRCm39) V260A possibly damaging Het
Prr36 T A 8: 4,265,205 (GRCm39) T182S probably benign Het
Prss35 A G 9: 86,637,565 (GRCm39) S112G probably benign Het
Ptprj C T 2: 90,294,958 (GRCm39) V417M probably damaging Het
Ptprm G T 17: 67,264,148 (GRCm39) probably null Het
Rasgrp2 T C 19: 6,463,195 (GRCm39) V498A probably benign Het
Rfx6 A G 10: 51,597,700 (GRCm39) N513S possibly damaging Het
Rhbdf1 A G 11: 32,160,471 (GRCm39) I693T probably damaging Het
Scn9a T C 2: 66,345,665 (GRCm39) T1143A probably damaging Het
Spata17 A G 1: 186,780,650 (GRCm39) S366P possibly damaging Het
Svep1 A G 4: 58,070,568 (GRCm39) L2406P probably benign Het
Tasor2 A T 13: 3,626,770 (GRCm39) I1060K probably benign Het
Tgfb2 A T 1: 186,362,962 (GRCm39) Y287* probably null Het
Trip11 A T 12: 101,851,619 (GRCm39) V815E probably benign Het
Trp53bp2 G T 1: 182,276,580 (GRCm39) V854L probably benign Het
Vmn1r78 T C 7: 11,887,270 (GRCm39) S294P possibly damaging Het
Vmn2r86 T C 10: 130,282,582 (GRCm39) K678R probably benign Het
Yeats2 T A 16: 19,977,931 (GRCm39) N138K probably benign Het
Zup1 A T 10: 33,803,460 (GRCm39) N541K 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
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
Predicted Primers PCR Primer
(F):5'- CAGCTGAACAATATCCACTTTCTC -3'
(R):5'- TCCTGAGGCTGAGGGTATAG -3'

Sequencing Primer
(F):5'- ACTTTCTCTTGGTCCCTAGGGG -3'
(R):5'- AGTAAGATTTCTGTCTCCATGGC -3'
Posted On 2014-08-25