Incidental Mutation 'R7196:Col4a2'
ID 559929
Institutional Source Beutler Lab
Gene Symbol Col4a2
Ensembl Gene ENSMUSG00000031503
Gene Name collagen, type IV, alpha 2
Synonyms Col4a-2
MMRRC Submission 045275-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7196 (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 11448693 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 71 (Y71C)
Ref Sequence ENSEMBL: ENSMUSP00000033899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033899]
AlphaFold P08122
Predicted Effect probably damaging
Transcript: ENSMUST00000033899
AA Change: Y71C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: Y71C

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 99% (94/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik AGCTTCCCTGCTT AGCTT 9: 57,165,505 (GRCm39) probably null Het
4921504E06Rik A C 2: 19,498,806 (GRCm39) S396A probably benign Het
Actr6 C A 10: 89,550,784 (GRCm39) V337F possibly damaging Het
Agtpbp1 T C 13: 59,680,994 (GRCm39) T73A possibly damaging Het
AI182371 A T 2: 34,976,441 (GRCm39) probably null Het
Apob A G 12: 8,033,893 (GRCm39) E202G possibly damaging Het
Asb4 A T 6: 5,423,356 (GRCm39) M168L probably benign Het
AU018091 T C 7: 3,213,788 (GRCm39) Y152C probably damaging Het
Casp3 G A 8: 47,088,498 (GRCm39) G132R possibly damaging Het
Cbfa2t3 C A 8: 123,365,729 (GRCm39) A229S probably benign Het
Cdh23 A T 10: 60,143,759 (GRCm39) Y2949N probably damaging Het
Ceacam3 T C 7: 16,888,881 (GRCm39) Y217H Het
Cldn5 A T 16: 18,595,630 (GRCm39) probably benign Het
Cltc T C 11: 86,597,657 (GRCm39) D1093G probably damaging Het
Cnn3 G A 3: 121,248,437 (GRCm39) probably null Het
Csf1 T C 3: 107,661,214 (GRCm39) D77G possibly damaging Het
Cyp2j7 T A 4: 96,103,651 (GRCm39) T295S probably benign Het
Dnah7a A T 1: 53,724,000 (GRCm39) M133K probably benign Het
Dock5 G A 14: 67,993,919 (GRCm39) P1852L probably damaging Het
Dpysl3 T A 18: 43,462,910 (GRCm39) D489V probably damaging Het
Dsg4 T C 18: 20,599,537 (GRCm39) Y718H probably damaging Het
Dync2h1 G A 9: 7,147,715 (GRCm39) Q972* probably null Het
Epn1 G A 7: 5,096,380 (GRCm39) D225N possibly damaging Het
Esp4 A G 17: 40,913,256 (GRCm39) E41G probably benign Het
Fam171a2 T C 11: 102,329,172 (GRCm39) D529G probably benign Het
Fbxl13 A T 5: 21,691,301 (GRCm39) I694N probably damaging Het
Fshr C T 17: 89,292,897 (GRCm39) A594T probably damaging Het
Galnt3 A G 2: 65,921,268 (GRCm39) Y533H probably damaging Het
Gja5 C A 3: 96,958,422 (GRCm39) R160S probably damaging Het
Gm12353 A T 4: 19,608,938 (GRCm39) D7V unknown Het
Gm17669 T C 18: 67,695,572 (GRCm39) F39S probably damaging Het
Gm7145 T A 1: 117,913,791 (GRCm39) N224K possibly damaging Het
Gpd1 G T 15: 99,619,936 (GRCm39) G245C probably benign Het
Gpr4 G A 7: 18,957,089 (GRCm39) G337D probably benign Het
Hgd G A 16: 37,409,078 (GRCm39) C14Y probably benign Het
Ibtk A T 9: 85,625,709 (GRCm39) S14T probably damaging Het
Ifi205 G T 1: 173,854,109 (GRCm39) N181K probably damaging Het
Inppl1 G A 7: 101,477,993 (GRCm39) A673V probably benign Het
Itgb3 C A 11: 104,524,438 (GRCm39) Y191* probably null Het
Jrkl G T 9: 13,244,162 (GRCm39) P500T probably benign Het
Kcnq1 G A 7: 142,912,478 (GRCm39) V515I possibly damaging Het
Kifc3 A G 8: 95,833,239 (GRCm39) V453A probably benign Het
Krt10 C T 11: 99,278,371 (GRCm39) E263K probably damaging Het
Lingo1 A T 9: 56,527,903 (GRCm39) F235I probably damaging Het
Lmo7 T A 14: 102,133,936 (GRCm39) D660E possibly damaging Het
Magi3 A C 3: 103,956,484 (GRCm39) C661W probably benign Het
Mmp1a C T 9: 7,476,018 (GRCm39) Q428* probably null Het
Msrb1 A T 17: 24,958,556 (GRCm39) T47S probably benign Het
Naip6 A T 13: 100,436,666 (GRCm39) I619K probably benign Het
Ndfip2 T C 14: 105,535,472 (GRCm39) S253P probably damaging Het
Nebl A T 2: 17,457,329 (GRCm39) V77E probably damaging Het
Nit1 T C 1: 171,172,003 (GRCm39) E65G probably benign Het
Ntn4 C T 10: 93,569,576 (GRCm39) H430Y probably benign Het
Nxpe5 A T 5: 138,237,586 (GRCm39) I49F probably benign Het
Or10a2 A G 7: 106,673,935 (GRCm39) N300S probably benign Het
Or10c1 A G 17: 37,522,084 (GRCm39) I220T probably damaging Het
Or14c46 A T 7: 85,918,649 (GRCm39) M116K probably damaging Het
Or1e23 A G 11: 73,407,957 (GRCm39) Y23H probably benign Het
Or1m1 A T 9: 18,666,886 (GRCm39) L15* probably null Het
Or4k49 T G 2: 111,495,042 (GRCm39) L157W probably damaging Het
Or52s6 A T 7: 103,092,204 (GRCm39) M42K probably benign Het
Or7e178 A G 9: 20,225,494 (GRCm39) Y241H probably benign Het
Oxct2a T A 4: 123,217,165 (GRCm39) N72I probably damaging Het
Pappa G A 4: 65,242,128 (GRCm39) probably null Het
Pcnx1 G A 12: 82,042,312 (GRCm39) R34H possibly damaging Het
Plekha5 G T 6: 140,489,648 (GRCm39) V236L possibly damaging Het
Prdm1 A G 10: 44,332,988 (GRCm39) S44P probably benign Het
Prss46 T A 9: 110,680,533 (GRCm39) L226Q probably benign Het
Prss47 C A 13: 65,192,640 (GRCm39) W380C probably benign Het
Ptch2 T G 4: 116,971,946 (GRCm39) V1156G probably benign Het
Rab3gap2 T C 1: 185,013,864 (GRCm39) F1190S probably damaging Het
Raver2 T G 4: 100,960,056 (GRCm39) Y179D probably damaging Het
Rgl2 C T 17: 34,152,403 (GRCm39) R367W probably damaging Het
Ripor2 T G 13: 24,888,808 (GRCm39) I629S possibly damaging Het
Robo4 T A 9: 37,314,001 (GRCm39) M84K possibly damaging Het
Rps6ka5 A T 12: 100,562,123 (GRCm39) S252T possibly damaging Het
Rtl1 C T 12: 109,559,221 (GRCm39) V873M possibly damaging Het
Sla T A 15: 66,703,420 (GRCm39) R4W probably benign Het
Smco1 A G 16: 32,092,620 (GRCm39) D97G probably damaging Het
Srgap1 T C 10: 121,676,753 (GRCm39) T414A probably benign Het
Syt14 A G 1: 192,717,936 (GRCm39) I3T probably benign Het
Tnpo2 G A 8: 85,773,766 (GRCm39) V303M possibly damaging Het
Tstd2 A C 4: 46,119,955 (GRCm39) S332R probably damaging Het
Ttn C A 2: 76,582,386 (GRCm39) A22836S possibly damaging Het
Ufl1 A G 4: 25,250,669 (GRCm39) V728A probably benign Het
Usp33 A T 3: 152,089,828 (GRCm39) K789N possibly damaging Het
Usp54 T A 14: 20,638,438 (GRCm39) Q214L probably damaging Het
Vmn2r7 T G 3: 64,623,198 (GRCm39) N374T probably benign Het
Zbtb7a T A 10: 80,980,434 (GRCm39) N209K probably damaging Het
Zc3hav1 A G 6: 38,306,207 (GRCm39) V615A probably benign Het
Zdhhc20 A G 14: 58,111,348 (GRCm39) probably null Het
Zfp90 G T 8: 107,151,780 (GRCm39) V498L 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
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'- TGATGTCATTCCGTAGCCAGC -3'
(R):5'- AGTGTCTACCCACAGCAGAG -3'

Sequencing Primer
(F):5'- AGCAGTCCCTCCGTGGTG -3'
(R):5'- AGCAGAGGACCCTAGCCATG -3'
Posted On 2019-06-26