Incidental Mutation 'R7394:Col4a2'
ID 573663
Institutional Source Beutler Lab
Gene Symbol Col4a2
Ensembl Gene ENSMUSG00000031503
Gene Name collagen, type IV, alpha 2
Synonyms Col4a-2
MMRRC Submission 045476-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7394 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 11362805-11499287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11496184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1602 (T1602A)
Ref Sequence ENSEMBL: ENSMUSP00000033899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033899]
AlphaFold P08122
Predicted Effect probably benign
Transcript: ENSMUST00000033899
AA Change: T1602A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: T1602A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (66/67)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik A G 10: 100,445,038 (GRCm39) I208V probably benign Het
Abcb11 C T 2: 69,130,211 (GRCm39) D282N probably damaging Het
Aldh1l2 T A 10: 83,338,321 (GRCm39) I646F probably damaging Het
Alms1 C T 6: 85,599,205 (GRCm39) P1344S possibly damaging Het
Ank2 T A 3: 126,730,302 (GRCm39) I711L possibly damaging Het
Ankrd6 T C 4: 32,821,298 (GRCm39) N251D probably damaging Het
Ap3m1 T C 14: 21,088,147 (GRCm39) T304A probably benign Het
Arhgef39 T C 4: 43,499,532 (GRCm39) T26A possibly damaging Het
Carnmt1 G T 19: 18,648,201 (GRCm39) probably benign Het
Ccr4 C T 9: 114,320,994 (GRCm39) R357H probably benign Het
Cd4 T A 6: 124,850,004 (GRCm39) M104L probably benign Het
Cd74 A T 18: 60,936,965 (GRCm39) probably benign Het
Cdcp1 T C 9: 123,002,878 (GRCm39) Y731C probably damaging Het
Cdyl2 A G 8: 117,350,790 (GRCm39) S114P not run Het
Cenpv T C 11: 62,427,114 (GRCm39) D148G probably damaging Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Cfap57 T A 4: 118,450,334 (GRCm39) Y596F probably benign Het
Clec4a2 C A 6: 123,116,079 (GRCm39) A122E unknown Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Cyp2j11 A T 4: 96,204,677 (GRCm39) Y290N probably benign Het
Dhx38 A T 8: 110,283,155 (GRCm39) V554E probably damaging Het
Ebf2 T C 14: 67,474,975 (GRCm39) V70A probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Fam217a A T 13: 35,094,262 (GRCm39) I499K possibly damaging Het
Fras1 C A 5: 96,860,309 (GRCm39) Y2118* probably null Het
Gm3248 A T 14: 5,945,781 (GRCm38) probably null Het
Gm5460 T G 14: 33,765,879 (GRCm39) D165E possibly damaging Het
Grk4 A T 5: 34,908,962 (GRCm39) N490Y probably benign Het
Iglc2 T A 16: 19,013,886 (GRCm39) K59* probably null Het
Iqsec3 T A 6: 121,363,569 (GRCm39) H895L possibly damaging Het
Itgb7 A G 15: 102,127,689 (GRCm39) S410P probably damaging Het
Kmt2d C A 15: 98,754,265 (GRCm39) V1613F unknown Het
Lama1 T C 17: 68,024,256 (GRCm39) L118P Het
Lrrc25 A T 8: 71,070,830 (GRCm39) S204C possibly damaging Het
Malrd1 A G 2: 15,700,010 (GRCm39) D619G unknown Het
Ms4a6d G A 19: 11,567,437 (GRCm39) Q155* probably null Het
Mup17 G A 4: 61,512,635 (GRCm39) S86F probably benign Het
Nbeal2 C T 9: 110,459,257 (GRCm39) probably null Het
Nfkb1 A C 3: 135,319,458 (GRCm39) V291G possibly damaging Het
Nomo1 G T 7: 45,715,903 (GRCm39) V757F probably benign Het
Nutm2 T A 13: 50,624,043 (GRCm39) S247T probably damaging Het
Or2at1 C A 7: 99,416,553 (GRCm39) H61Q probably damaging Het
Or4c120 C T 2: 89,000,705 (GRCm39) V284I probably benign Het
Or4f4-ps1 G T 2: 111,330,241 (GRCm39) A215S probably damaging Het
Or7g12 T A 9: 18,900,006 (GRCm39) C241S probably damaging Het
Or9k2b T A 10: 130,016,123 (GRCm39) I209F probably damaging Het
Pcdhb14 A G 18: 37,581,961 (GRCm39) I356V probably benign Het
Pnkp T A 7: 44,508,102 (GRCm39) S142T probably damaging Het
Ppia T C 11: 6,369,218 (GRCm39) S99P possibly damaging Het
Prss47 C T 13: 65,192,807 (GRCm39) V325I probably benign Het
Ptgr3 C T 18: 84,106,315 (GRCm39) A9V probably benign Het
Ptk7 T C 17: 46,902,683 (GRCm39) D34G probably damaging Het
Pwp2 C T 10: 78,018,314 (GRCm39) G126R probably damaging Het
Rasa3 G T 8: 13,645,353 (GRCm39) D195E probably benign Het
Rnf150 T A 8: 83,717,100 (GRCm39) Y202* probably null Het
Sh2d1b2 T C 1: 170,075,716 (GRCm39) V50A probably damaging Het
Slc30a4 C T 2: 122,527,224 (GRCm39) V390I possibly damaging Het
Slc30a9 G T 5: 67,510,109 (GRCm39) probably null Het
Slc8a3 T A 12: 81,260,832 (GRCm39) probably null Het
Smpd3 G A 8: 106,991,642 (GRCm39) R304W probably damaging Het
Snta1 A G 2: 154,218,780 (GRCm39) S490P probably damaging Het
Srcap T G 7: 127,134,000 (GRCm39) M887R probably damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Sult2a3 T C 7: 13,845,449 (GRCm39) T137A probably benign Het
Tspoap1 C T 11: 87,656,945 (GRCm39) Q367* probably null Het
Uroc1 C T 6: 90,322,315 (GRCm39) R280C probably damaging Het
Ush2a T C 1: 188,643,613 (GRCm39) I4325T possibly damaging Het
Vmn1r32 A G 6: 66,530,173 (GRCm39) I201T probably benign Het
Zbtb47 T A 9: 121,596,411 (GRCm39) M626K probably 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
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
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'- GGGTGACGTCTGCTACTATG -3'
(R):5'- TGGCACAGATACAGCATGGC -3'

Sequencing Primer
(F):5'- GACGTCTGCTACTATGCCAGC -3'
(R):5'- TGGAGATCCAAACTTTACCCATGGAG -3'
Posted On 2019-09-13