Incidental Mutation 'R6329:Col4a2'
ID 509394
Institutional Source Beutler Lab
Gene Symbol Col4a2
Ensembl Gene ENSMUSG00000031503
Gene Name collagen, type IV, alpha 2
Synonyms Col4a-2
MMRRC Submission 044483-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6329 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 11362805-11499287 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11496238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 1620 (F1620I)
Ref Sequence ENSEMBL: ENSMUSP00000033899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033899]
AlphaFold P08122
Predicted Effect probably damaging
Transcript: ENSMUST00000033899
AA Change: F1620I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033899
Gene: ENSMUSG00000031503
AA Change: F1620I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,879,457 (GRCm39) H72R probably damaging Het
Abca13 A T 11: 9,227,937 (GRCm39) N660I probably damaging Het
Actr8 C T 14: 29,715,041 (GRCm39) R619* probably null Het
Adam18 C A 8: 25,104,843 (GRCm39) G657V probably damaging Het
Adcyap1 A G 17: 93,510,227 (GRCm39) E85G probably benign Het
Akr1c14 A G 13: 4,137,302 (GRCm39) Y305C probably damaging Het
Ankdd1b T A 13: 96,591,388 (GRCm39) H37L possibly damaging Het
Ap4e1 T C 2: 126,903,636 (GRCm39) L846P probably benign Het
Aqp9 A T 9: 71,039,966 (GRCm39) Y105* probably null Het
Arid1b C T 17: 5,387,538 (GRCm39) Q1664* probably null Het
Aup1 A G 6: 83,031,588 (GRCm39) probably benign Het
Bnip1 C A 17: 27,005,684 (GRCm39) S64* probably null Het
Calcr T A 6: 3,687,621 (GRCm39) Q422L probably damaging Het
Ccdc162 T A 10: 41,539,147 (GRCm39) D407V possibly damaging Het
Ccdc66 G T 14: 27,208,441 (GRCm39) S760R probably benign Het
Cd22 T A 7: 30,577,193 (GRCm39) E38V probably damaging Het
Cggbp1 T C 16: 64,676,383 (GRCm39) Y150H probably damaging Het
Chd3 T C 11: 69,252,510 (GRCm39) K263R possibly damaging Het
Col6a2 T C 10: 76,435,662 (GRCm39) T858A probably benign Het
Dnah7a T A 1: 53,580,273 (GRCm39) D1554V probably damaging Het
Dnajc25 A T 4: 59,013,678 (GRCm39) Q132L probably benign Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Homo
Ehbp1l1 A C 19: 5,768,795 (GRCm39) I836S possibly damaging Het
Elf1 A G 14: 79,810,779 (GRCm39) Q288R possibly damaging Het
Fbn1 C A 2: 125,150,393 (GRCm39) V2608L possibly damaging Het
Frmpd1 T C 4: 45,268,551 (GRCm39) I232T possibly damaging Het
Fuca1 T A 4: 135,662,137 (GRCm39) I355N probably damaging Het
Gcnt4 A G 13: 97,083,781 (GRCm39) D359G probably damaging Het
Gm5134 T C 10: 75,790,494 (GRCm39) M30T possibly damaging Het
Grk1 T G 8: 13,455,704 (GRCm39) L196R probably damaging Het
Igkv14-126 A C 6: 67,873,548 (GRCm39) D92A probably damaging Het
Kmt2c A G 5: 25,520,600 (GRCm39) S1837P probably benign Het
Lhx4 T A 1: 155,578,300 (GRCm39) T281S probably benign Het
Lrrc55 G T 2: 85,026,653 (GRCm39) H124N probably benign Het
Marchf8 T A 6: 116,383,277 (GRCm39) I566N possibly damaging Het
Mycbp2 G A 14: 103,393,288 (GRCm39) A3091V probably benign Het
Nlrp4b A G 7: 10,458,847 (GRCm39) N355S probably benign Het
Nmur2 A G 11: 55,920,411 (GRCm39) V278A probably benign Het
Nod1 T C 6: 54,921,689 (GRCm39) M210V probably benign Het
Nt5c1b T A 12: 10,422,138 (GRCm39) C63* probably null Het
Or1e1f A G 11: 73,855,568 (GRCm39) I45V possibly damaging Het
Or1j17 A T 2: 36,578,694 (GRCm39) K227* probably null Het
Or4g7 C T 2: 111,309,573 (GRCm39) A148V possibly damaging Het
Or5d37 G A 2: 87,924,008 (GRCm39) P91S probably damaging Het
Or7g21 A C 9: 19,032,253 (GRCm39) M1L probably benign Het
Or8b37 T C 9: 37,959,121 (GRCm39) V201A probably benign Het
Or8g24 C T 9: 38,989,199 (GRCm39) V281I probably benign Het
Osbp2 T A 11: 3,665,153 (GRCm39) S517C probably damaging Het
Pcdha1 C T 18: 37,065,301 (GRCm39) P655L probably damaging Het
Pdcd6 A G 13: 74,452,098 (GRCm39) Y181H probably damaging Het
Perp G A 10: 18,731,502 (GRCm39) G154S probably damaging Het
Perp G T 10: 18,731,503 (GRCm39) G154V probably damaging Het
Pira13 T C 7: 3,825,850 (GRCm39) T340A probably damaging Het
Prokr1 T G 6: 87,558,774 (GRCm39) T204P possibly damaging Het
Prpf3 A T 3: 95,739,890 (GRCm39) C630S probably damaging Het
Pter C A 2: 12,985,359 (GRCm39) H230N probably damaging Het
Ptprs A T 17: 56,724,427 (GRCm39) Y1167* probably null Het
Rad54l2 T C 9: 106,595,121 (GRCm39) I279V possibly damaging Het
Rora T A 9: 69,280,468 (GRCm39) L347Q probably damaging Het
Runx1t1 T G 4: 13,785,136 (GRCm39) M1R probably null Het
Sdcbp A G 4: 6,381,064 (GRCm39) S70G probably benign Het
Serpinb12 A G 1: 106,881,493 (GRCm39) Y210C probably damaging Het
Sipa1 T C 19: 5,701,517 (GRCm39) E1015G probably damaging Het
Slc15a2 A C 16: 36,572,144 (GRCm39) L740R possibly damaging Het
Specc1 A G 11: 62,047,379 (GRCm39) E916G probably damaging Het
Spta1 T C 1: 174,041,743 (GRCm39) I1371T possibly damaging Het
Tagln3 T C 16: 45,533,365 (GRCm39) M130V probably benign Het
Tchh A T 3: 93,353,752 (GRCm39) E1064V unknown Het
Tdp1 A T 12: 99,880,330 (GRCm39) S464C probably damaging Het
Tdp1 G C 12: 99,880,331 (GRCm39) S464T probably benign Het
Tenm3 T C 8: 48,729,884 (GRCm39) Y1374C probably damaging Het
Tmprss3 A T 17: 31,402,833 (GRCm39) Y455* probably null Het
Ttc5 A G 14: 51,003,385 (GRCm39) V433A possibly damaging Het
Wnt5a A T 14: 28,240,449 (GRCm39) R180* probably null Het
Zfp53 A G 17: 21,728,372 (GRCm39) D135G probably benign Het
Zfp619 T A 7: 39,186,969 (GRCm39) C1000S probably damaging Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L 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
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'- ACAAGTCCTACTGGCTCTCC -3'
(R):5'- GACACACAACTTGGGCAATTG -3'

Sequencing Primer
(F):5'- TACTGGCTCTCCACCACGG -3'
(R):5'- ATGGCAAGCTCTACCTCACTGG -3'
Posted On 2018-04-02