Incidental Mutation 'R5478:Col4a2'
ID 434162
Institutional Source Beutler Lab
Gene Symbol Col4a2
Ensembl Gene ENSMUSG00000031503
Gene Name collagen, type IV, alpha 2
Synonyms Col4a-2
MMRRC Submission 043039-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5478 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 11362805-11499287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11448697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 72 (N72K)
Ref Sequence ENSEMBL: ENSMUSP00000033899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033899]
AlphaFold P08122
Predicted Effect probably benign
Transcript: ENSMUST00000033899
AA Change: N72K

PolyPhen 2 Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: N72K

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: ENSMUST00000148654
Meta Mutation Damage Score 0.0753 question?
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.4%
  • 10x: 95.4%
  • 20x: 91.6%
Validation Efficiency 98% (63/64)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,827,904 (GRCm39) probably benign Het
Adamts2 T C 11: 50,683,478 (GRCm39) V920A possibly damaging Het
Alpk1 A G 3: 127,471,368 (GRCm39) V1038A probably damaging Het
Amotl1 A G 9: 14,504,048 (GRCm39) probably null Het
Apba2 T A 7: 64,344,934 (GRCm39) Y41* probably null Het
BC048562 G A 9: 108,322,363 (GRCm39) probably benign Het
Braf A G 6: 39,654,508 (GRCm39) L86P possibly damaging Het
Capn3 A G 2: 120,294,666 (GRCm39) probably null Het
Carmil1 T C 13: 24,296,028 (GRCm39) D371G probably damaging Het
Cdhr4 G A 9: 107,872,790 (GRCm39) V280I possibly damaging Het
Cdkl2 T A 5: 92,187,108 (GRCm39) K53* probably null Het
Chl1 A T 6: 103,660,182 (GRCm39) E353D probably damaging Het
Comtd1 A T 14: 21,898,981 (GRCm39) probably benign Het
Ctsm A T 13: 61,685,543 (GRCm39) S290T probably benign Het
Defa35 A T 8: 21,555,836 (GRCm39) Y65F probably benign Het
Dock8 T A 19: 25,057,186 (GRCm39) C198S probably benign Het
Epha3 A C 16: 63,403,896 (GRCm39) M734R probably damaging Het
Fastkd2 T C 1: 63,778,345 (GRCm39) I406T probably benign Het
Fshr C T 17: 89,309,143 (GRCm39) V222I probably benign Het
Gm16686 A T 4: 88,673,714 (GRCm39) probably benign Het
Gm4922 T C 10: 18,659,885 (GRCm39) E279G probably benign Het
Gm5709 A T 3: 59,543,095 (GRCm39) noncoding transcript Het
Grin3a C A 4: 49,792,481 (GRCm39) M417I probably benign Het
Hnf4a A T 2: 163,410,926 (GRCm39) M408L probably benign Het
Idh1 A T 1: 65,200,997 (GRCm39) M318K probably benign Het
Krt222 A G 11: 99,125,774 (GRCm39) S286P probably damaging Het
Mmrn2 A T 14: 34,118,539 (GRCm39) T142S probably benign Het
Myocd G T 11: 65,123,914 (GRCm39) probably null Het
Ncam2 C T 16: 81,231,766 (GRCm39) R77* probably null Het
Or52ab7 T C 7: 102,978,032 (GRCm39) L113P probably damaging Het
Or5h17 A T 16: 58,820,425 (GRCm39) I126L possibly damaging Het
Pcdhgc4 C T 18: 37,950,375 (GRCm39) T597M probably damaging Het
Pdrg1 A G 2: 152,857,152 (GRCm39) probably benign Het
Per2 T A 1: 91,360,590 (GRCm39) I521F probably benign Het
Pkhd1 G A 1: 20,271,380 (GRCm39) L3058F probably damaging Het
Plaat5 A C 19: 7,592,036 (GRCm39) probably benign Het
Pnliprp1 A T 19: 58,723,423 (GRCm39) probably null Het
Ppargc1b T A 18: 61,440,639 (GRCm39) M744L probably benign Het
Prpf18 A T 2: 4,643,705 (GRCm39) N155K probably benign Het
Pum1 T A 4: 130,478,795 (GRCm39) N472K possibly damaging Het
Reln A T 5: 22,209,201 (GRCm39) S1126T probably benign Het
Rnase11 A G 14: 51,287,332 (GRCm39) L74P probably damaging Het
Slc25a23 T A 17: 57,359,780 (GRCm39) I324F probably damaging Het
Slc26a10 C A 10: 127,009,818 (GRCm39) R576L probably benign Het
Slc4a1 T A 11: 102,241,140 (GRCm39) E921D probably damaging Het
Slc9c1 A T 16: 45,374,609 (GRCm39) M296L probably damaging Het
Sos1 T C 17: 80,741,276 (GRCm39) D503G probably damaging Het
Srpk2 G A 5: 23,729,181 (GRCm39) T486I possibly damaging Het
Sult6b1 A T 17: 79,202,101 (GRCm39) probably null Het
Tbc1d16 T C 11: 119,045,917 (GRCm39) E509G probably benign Het
Tktl2 T C 8: 66,966,050 (GRCm39) V536A probably damaging Het
Ugt2b36 A T 5: 87,237,341 (GRCm39) V188D probably damaging Het
Veph1 T C 3: 66,162,443 (GRCm39) T72A probably damaging Het
Vmn2r73 A T 7: 85,518,996 (GRCm39) I542N probably damaging Het
Vps13d G A 4: 144,894,120 (GRCm39) P480S probably damaging Het
Zfp319 A G 8: 96,052,193 (GRCm39) probably benign 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
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'- GATGTCATTCCGTAGCCAGC -3'
(R):5'- AGTGTCTACCCACAGCAGAG -3'

Sequencing Primer
(F):5'- AGCAGTCCCTCCGTGGTG -3'
(R):5'- AGCAGAGGACCCTAGCCATG -3'
Posted On 2016-10-06