Incidental Mutation 'R0124:Col4a2'
ID 21223
Institutional Source Beutler Lab
Gene Symbol Col4a2
Ensembl Gene ENSMUSG00000031503
Gene Name collagen, type IV, alpha 2
Synonyms Col4a-2
MMRRC Submission 038409-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0124 (G1)
Quality Score 178
Status Validated (trace)
Chromosome 8
Chromosomal Location 11362805-11499287 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 11458871 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033899]
AlphaFold P08122
Predicted Effect probably benign
Transcript: ENSMUST00000033899
SMART Domains Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503

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: ENSMUST00000145295
SMART Domains Protein: ENSMUSP00000114737
Gene: ENSMUSG00000031503

DomainStartEndE-ValueType
Pfam:Collagen 6 55 9.7e-8 PFAM
Pfam:Collagen 81 140 4.4e-12 PFAM
Pfam:Collagen 145 210 2.7e-8 PFAM
Pfam:Collagen 184 239 2.9e-8 PFAM
low complexity region 280 293 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148654
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.3%
  • 10x: 95.7%
  • 20x: 89.8%
Validation Efficiency 100% (67/67)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,138,656 (GRCm39) T194A probably benign Het
Afap1 C T 5: 36,102,553 (GRCm39) P82S probably damaging Het
Ankrd28 A G 14: 31,449,698 (GRCm39) Y481H probably damaging Het
Arid1b C T 17: 5,389,605 (GRCm39) T1717I probably damaging Het
Atad2b A G 12: 5,002,676 (GRCm39) K348R probably benign Het
Bcl3 C T 7: 19,543,576 (GRCm39) V5M probably damaging Het
C2cd3 A G 7: 100,118,725 (GRCm39) E2321G probably benign Het
Casq1 C T 1: 172,037,992 (GRCm39) V380M probably damaging Het
Cd209e T A 8: 3,901,274 (GRCm39) T127S probably benign Het
Cdh23 G T 10: 60,143,835 (GRCm39) Y2921* probably null Het
Cdh6 A G 15: 13,034,410 (GRCm39) L750P probably damaging Het
Cdk12 T C 11: 98,102,073 (GRCm39) probably benign Het
Ces5a T C 8: 94,255,183 (GRCm39) E170G probably damaging Het
Clec4f A G 6: 83,629,335 (GRCm39) probably null Het
Col19a1 T C 1: 24,565,539 (GRCm39) N264S unknown Het
Col2a1 T A 15: 97,896,743 (GRCm39) I43F unknown Het
Csmd3 T A 15: 47,454,112 (GRCm39) D3578V probably damaging Het
Cyp2c37 T C 19: 39,982,546 (GRCm39) L128P probably damaging Het
Dennd2b A G 7: 109,141,718 (GRCm39) S132P possibly damaging Het
Dysf A G 6: 84,042,084 (GRCm39) probably benign Het
Eml1 T C 12: 108,472,867 (GRCm39) V225A probably benign Het
Eml1 A G 12: 108,475,437 (GRCm39) Y256C probably damaging Het
Epb41l5 T A 1: 119,561,370 (GRCm39) K64* probably null Het
Fat2 A G 11: 55,174,504 (GRCm39) F2070L probably damaging Het
Fbxw18 G T 9: 109,520,583 (GRCm39) H259N probably benign Het
Gm10764 A T 10: 87,126,610 (GRCm39) T6S unknown Het
Gm14412 A G 2: 177,007,705 (GRCm39) probably benign Het
Heatr5b A T 17: 79,133,646 (GRCm39) probably benign Het
Hid1 T C 11: 115,247,649 (GRCm39) T250A probably damaging Het
Hnf4g A G 3: 3,708,142 (GRCm39) probably benign Het
Ifnar1 C T 16: 91,296,425 (GRCm39) Q309* probably null Het
Lrriq1 C T 10: 103,006,281 (GRCm39) probably null Het
Map3k13 A G 16: 21,722,506 (GRCm39) T223A possibly damaging Het
Matn2 C T 15: 34,426,297 (GRCm39) probably benign Het
Myo6 A G 9: 80,215,056 (GRCm39) E1253G probably damaging Het
Nomo1 G T 7: 45,732,652 (GRCm39) probably benign Het
Or1ak2 A T 2: 36,827,268 (GRCm39) I46F possibly damaging Het
Or4c116 A T 2: 88,942,088 (GRCm39) I256K possibly damaging Het
Or8a1b A G 9: 37,622,759 (GRCm39) V272A possibly damaging Het
Papolg C T 11: 23,817,535 (GRCm39) A582T probably benign Het
Plekhm3 C T 1: 64,960,910 (GRCm39) E449K probably damaging Het
Pole T G 5: 110,451,858 (GRCm39) M900R probably damaging Het
Ppp1cb T A 5: 32,640,822 (GRCm39) probably benign Het
Pramel17 A G 4: 101,692,570 (GRCm39) *477Q probably null Het
Pros1 A G 16: 62,734,309 (GRCm39) T372A possibly damaging Het
Scara3 A T 14: 66,168,670 (GRCm39) S316T probably benign Het
Stau2 C T 1: 16,533,352 (GRCm39) A61T probably damaging Het
Stx3 T C 19: 11,769,163 (GRCm39) E54G possibly damaging Het
Sun1 T C 5: 139,232,434 (GRCm39) probably benign Het
Swt1 A T 1: 151,267,280 (GRCm39) C634S probably damaging Het
Syt6 A G 3: 103,494,842 (GRCm39) Y269C probably damaging Het
Tfap2a G A 13: 40,870,887 (GRCm39) probably benign Het
Tmx4 A T 2: 134,481,640 (GRCm39) probably null Het
Ttc39d T C 17: 80,524,375 (GRCm39) C345R probably damaging Het
Vmn1r27 T C 6: 58,192,233 (GRCm39) Y257C probably damaging Het
Vmn2r27 T A 6: 124,208,578 (GRCm39) T56S probably benign Het
Vps13b T C 15: 35,576,674 (GRCm39) probably null Het
Wdr17 A G 8: 55,088,526 (GRCm39) S1175P probably damaging Het
Wsb2 T C 5: 117,501,823 (GRCm39) F63L probably benign Het
Zfp142 A G 1: 74,607,782 (GRCm39) Y1561H 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
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
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'- TCCAACTGCCTTTTCCTACGAAGAC -3'
(R):5'- ACGGTGTAACCATGATGCCTCCTC -3'

Sequencing Primer
(F):5'- GAAAGACAGTCCCTGTTTGC -3'
(R):5'- GATGCCTCCTCACATAGAGAAGTG -3'
Posted On 2013-04-11