Incidental Mutation 'R2207:Col4a2'
ID 239144
Institutional Source Beutler Lab
Gene Symbol Col4a2
Ensembl Gene ENSMUSG00000031503
Gene Name collagen, type IV, alpha 2
Synonyms Col4a-2
MMRRC Submission 040209-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2207 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 11362805-11499287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 11493352 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Tryptophan at position 1354 (G1354W)
Ref Sequence ENSEMBL: ENSMUSP00000033899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033899]
AlphaFold P08122
Predicted Effect probably damaging
Transcript: ENSMUST00000033899
AA Change: G1354W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: G1354W

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik A G 17: 37,288,965 (GRCm39) probably benign Het
Abcb1b C T 5: 8,874,803 (GRCm39) R488C probably benign Het
Adam34 T C 8: 44,105,274 (GRCm39) I124V probably benign Het
Aicda T A 6: 122,538,244 (GRCm39) V134D possibly damaging Het
Akt2 T A 7: 27,336,625 (GRCm39) probably null Het
Aldh1a3 T C 7: 66,055,769 (GRCm39) R341G probably damaging Het
Ankrd12 G T 17: 66,338,569 (GRCm39) probably null Het
Anxa11 A G 14: 25,874,721 (GRCm39) Y244C probably damaging Het
Atp2c2 G A 8: 120,475,048 (GRCm39) R551Q probably damaging Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bcl11a G T 11: 24,113,343 (GRCm39) G229W probably damaging Het
Brip1 A G 11: 85,952,703 (GRCm39) V1026A probably benign Het
Cacna1h A T 17: 25,603,987 (GRCm39) S1282T probably benign Het
Calcr T C 6: 3,717,133 (GRCm39) Y109C probably damaging Het
Ccdc39 T C 3: 33,890,882 (GRCm39) I241V probably damaging Het
Ccdc9 A G 7: 16,018,194 (GRCm39) probably benign Het
Cdk17 G A 10: 93,064,624 (GRCm39) D298N probably damaging Het
Cdkl3 A G 11: 51,918,020 (GRCm39) *354W probably null Het
Celf6 A T 9: 59,511,610 (GRCm39) Y401F possibly damaging Het
Clec4a4 C T 6: 122,990,766 (GRCm39) L169F probably damaging Het
Col14a1 T C 15: 55,327,082 (GRCm39) F1411L unknown Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cst13 A T 2: 148,665,202 (GRCm39) R66W probably damaging Het
Depp1 G A 6: 116,628,683 (GRCm39) V9M possibly damaging Het
Dhx8 A G 11: 101,641,797 (GRCm39) T632A probably benign Het
Disp1 A G 1: 182,869,906 (GRCm39) F838S possibly damaging Het
Dlg1 A G 16: 31,672,664 (GRCm39) H599R probably benign Het
Dnah12 T A 14: 26,503,744 (GRCm39) V1654E probably damaging Het
Dnah5 C T 15: 28,343,817 (GRCm39) L2406F probably benign Het
Fam98b C G 2: 117,098,300 (GRCm39) R257G probably damaging Het
Fbn2 A T 18: 58,214,471 (GRCm39) C900* probably null Het
Fgf1 A G 18: 38,980,138 (GRCm39) Y79H possibly damaging Het
Foxn1 C A 11: 78,249,630 (GRCm39) A632S probably benign Het
Fsip2 T G 2: 82,807,823 (GRCm39) S1381A probably benign Het
Gtf2b G A 3: 142,484,081 (GRCm39) G85D probably benign Het
Gyg1 C A 3: 20,204,703 (GRCm39) G161C probably damaging Het
Hemgn G T 4: 46,396,301 (GRCm39) L312I possibly damaging Het
Hic2 T C 16: 17,075,324 (GRCm39) M51T possibly damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hpx C T 7: 105,241,633 (GRCm39) R287H probably damaging Het
Igf2bp3 C T 6: 49,065,488 (GRCm39) G468E possibly damaging Het
Il5ra C A 6: 106,689,402 (GRCm39) E397* probably null Het
Itfg1 A T 8: 86,502,827 (GRCm39) S246R probably benign Het
Kdm2a A T 19: 4,412,898 (GRCm39) D29E probably damaging Het
Lamc2 T G 1: 153,009,452 (GRCm39) E784D possibly damaging Het
Lrp2 A T 2: 69,297,372 (GRCm39) N3196K possibly damaging Het
Lyzl1 T A 18: 4,181,962 (GRCm39) C96* probably null Het
Maf1 A G 15: 76,236,718 (GRCm39) T17A probably benign Het
Map1b T C 13: 99,567,591 (GRCm39) D1710G unknown Het
Megf8 C T 7: 25,049,222 (GRCm39) T1773I probably damaging Het
Mei1 T C 15: 81,987,450 (GRCm39) M414T probably benign Het
Myo15a A G 11: 60,396,860 (GRCm39) N2643S probably benign Het
Ndufa9 A G 6: 126,821,772 (GRCm39) Y64H probably damaging Het
Neb A T 2: 52,101,579 (GRCm39) L4354* probably null Het
Nom1 T A 5: 29,644,972 (GRCm39) I480N probably damaging Het
Nrxn3 C T 12: 89,315,082 (GRCm39) T331M probably damaging Het
Or1a1 G T 11: 74,087,150 (GRCm39) V274L possibly damaging Het
Or1j16 G T 2: 36,530,201 (GRCm39) R50M possibly damaging Het
Or4f14b A C 2: 111,775,270 (GRCm39) F177C probably damaging Het
Or51a42 A G 7: 103,708,612 (GRCm39) S66P probably damaging Het
Pcdhb15 A T 18: 37,608,075 (GRCm39) T436S probably benign Het
Pcdhb18 T A 18: 37,624,342 (GRCm39) N557K probably damaging Het
Pcdhb6 T C 18: 37,468,633 (GRCm39) M518T probably benign Het
Pgm2l1 T A 7: 99,917,319 (GRCm39) probably null Het
Pih1d2 C A 9: 50,532,379 (GRCm39) H162N probably benign Het
Pitrm1 T A 13: 6,619,327 (GRCm39) Y721N probably damaging Het
Pla2r1 C A 2: 60,288,779 (GRCm39) V618F probably damaging Het
Plb1 T C 5: 32,473,984 (GRCm39) S599P possibly damaging Het
Prkg1 T C 19: 30,556,260 (GRCm39) D562G probably damaging Het
Proser1 T G 3: 53,385,812 (GRCm39) S565A probably benign Het
Prx T A 7: 27,216,213 (GRCm39) V238E probably damaging Het
Psapl1 T C 5: 36,362,509 (GRCm39) I367T probably damaging Het
Rc3h1 T C 1: 160,767,595 (GRCm39) V128A probably damaging Het
Rrm1 T A 7: 102,091,233 (GRCm39) M1K probably null Het
Rsf1 GCG GCGACG 7: 97,229,114 (GRCm39) probably benign Het
Rsl1 A G 13: 67,330,892 (GRCm39) T447A probably benign Het
Ryr2 A G 13: 11,825,823 (GRCm39) S552P probably damaging Het
Sbf1 A G 15: 89,190,896 (GRCm39) S225P possibly damaging Het
Serpina3c T A 12: 104,117,757 (GRCm39) I194F probably benign Het
Setd3 C T 12: 108,073,544 (GRCm39) V578M probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc6a1 T A 6: 114,285,632 (GRCm39) V356E probably damaging Het
Slfn1 A G 11: 83,011,992 (GRCm39) E36G possibly damaging Het
Sorcs1 T C 19: 50,218,655 (GRCm39) H609R possibly damaging Het
Spag16 A G 1: 70,764,043 (GRCm39) H621R probably benign Het
Spata31d1e A G 13: 59,890,920 (GRCm39) V300A probably benign Het
Tg G A 15: 66,553,788 (GRCm39) G401D probably benign Het
Tnxb A C 17: 34,928,391 (GRCm39) T2602P possibly damaging Het
Trip11 T C 12: 101,839,701 (GRCm39) N1643S probably benign Het
Ttn G A 2: 76,709,687 (GRCm39) R1581* probably null Het
Ttn A T 2: 76,796,155 (GRCm39) I590K probably benign Het
Vmn1r225 A G 17: 20,722,611 (GRCm39) I17M possibly damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Wdr7 T A 18: 63,910,678 (GRCm39) V690E possibly damaging Het
Xaf1 A T 11: 72,194,228 (GRCm39) E36D possibly damaging Het
Zfp131 A T 13: 120,237,348 (GRCm39) F303I probably damaging Het
Zfp513 T G 5: 31,357,767 (GRCm39) K202T probably damaging Het
Zfp788 A T 7: 41,299,064 (GRCm39) I567F probably damaging Het
Zfyve26 A G 12: 79,292,861 (GRCm39) V2096A 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
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'- ACGCACTTCCTGGAATCAAAG -3'
(R):5'- GTGATTTCAGGAGCAGAGAACC -3'

Sequencing Primer
(F):5'- TCTGGAGCTGCAGGATTCC -3'
(R):5'- TTTCAGGAGCAGAGAACCATATC -3'
Posted On 2014-10-02