Incidental Mutation 'R4910:Col4a3'
ID 379345
Institutional Source Beutler Lab
Gene Symbol Col4a3
Ensembl Gene ENSMUSG00000079465
Gene Name collagen, type IV, alpha 3
Synonyms tumstatin, alpha3(IV)
MMRRC Submission 042512-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4910 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 82564647-82699778 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 82650400 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 552 (P552Q)
Ref Sequence ENSEMBL: ENSMUSP00000109084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113457]
AlphaFold Q9QZS0
Predicted Effect unknown
Transcript: ENSMUST00000113457
AA Change: P552Q
SMART Domains Protein: ENSMUSP00000109084
Gene: ENSMUSG00000079465
AA Change: P552Q

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Collagen 41 102 9.6e-11 PFAM
Pfam:Collagen 97 164 3.6e-11 PFAM
Pfam:Collagen 164 223 3.6e-9 PFAM
low complexity region 233 243 N/A INTRINSIC
Pfam:Collagen 284 344 2.4e-10 PFAM
low complexity region 368 393 N/A INTRINSIC
Pfam:Collagen 415 477 5e-10 PFAM
Pfam:Collagen 481 545 1e-9 PFAM
low complexity region 550 585 N/A INTRINSIC
Pfam:Collagen 588 653 8.9e-9 PFAM
Pfam:Collagen 682 744 1.1e-8 PFAM
Pfam:Collagen 743 807 6.9e-10 PFAM
Pfam:Collagen 786 847 1.5e-8 PFAM
Pfam:Collagen 845 904 1.5e-10 PFAM
Pfam:Collagen 887 946 4.1e-10 PFAM
Pfam:Collagen 948 1006 8.1e-11 PFAM
Pfam:Collagen 997 1061 2.8e-10 PFAM
Pfam:Collagen 1057 1120 2.5e-10 PFAM
Pfam:Collagen 1114 1176 1.7e-9 PFAM
Pfam:Collagen 1174 1233 1.1e-9 PFAM
Pfam:Collagen 1232 1295 6.9e-9 PFAM
low complexity region 1326 1347 N/A INTRINSIC
Pfam:Collagen 1377 1439 4.9e-11 PFAM
C4 1444 1553 3.77e-70 SMART
C4 1554 1667 3.28e-70 SMART
Meta Mutation Damage Score 0.0995 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.6%
  • 20x: 86.1%
Validation Efficiency 95% (144/151)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010]
PHENOTYPE: Homozygotes for targeted null mutations exhibit renal pathology including reduced glomerular filtration, impaired glomerular integrity, and glomerulonephrosis, resulting in uremia, proteinuria, and high mortality in young adults. Auditory thresholds aremildly increased across all test frequencies. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 123 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T A 3: 59,776,435 (GRCm39) probably null Het
Adam3 T A 8: 25,184,321 (GRCm39) I560L probably benign Het
Agxt T C 1: 93,063,436 (GRCm39) F113L probably benign Het
Aknad1 T A 3: 108,688,568 (GRCm39) probably null Het
Alpk2 T A 18: 65,399,357 (GRCm39) K2074* probably null Het
Apob A G 12: 8,057,848 (GRCm39) Y2077C probably damaging Het
Arhgap17 A T 7: 122,907,600 (GRCm39) L254Q probably damaging Het
Arhgap26 T A 18: 39,126,690 (GRCm39) probably benign Het
Arhgef5 A G 6: 43,249,762 (GRCm39) D171G probably benign Het
Arid1b T A 17: 5,392,478 (GRCm39) S2003T probably damaging Het
Armc5 T G 7: 127,839,900 (GRCm39) L406R possibly damaging Het
Arsb T C 13: 93,908,485 (GRCm39) V67A probably benign Het
Aspm A G 1: 139,419,281 (GRCm39) Y2982C probably damaging Het
Bltp1 C A 3: 37,052,348 (GRCm39) T3016K probably damaging Het
Btbd7 A G 12: 102,774,307 (GRCm39) L487P probably damaging Het
Card11 C G 5: 140,860,169 (GRCm39) D1063H probably damaging Het
Ccdc186 G A 19: 56,787,123 (GRCm39) T615M probably damaging Het
Cd101 T A 3: 100,901,205 (GRCm39) T960S probably benign Het
Cdca7l C A 12: 117,837,520 (GRCm39) S191* probably null Het
Cemip A T 7: 83,646,619 (GRCm39) I143N probably damaging Het
Cep170 C T 1: 176,609,829 (GRCm39) E161K possibly damaging Het
Cfhr4 T G 1: 139,702,301 (GRCm39) D61A probably damaging Het
Chrm2 A T 6: 36,501,168 (GRCm39) T342S probably benign Het
Cib2 A G 9: 54,457,163 (GRCm39) F34L probably benign Het
Cnot1 A T 8: 96,459,859 (GRCm39) I1836N probably benign Het
Cp T A 3: 20,043,388 (GRCm39) probably benign Het
Cul3 C T 1: 80,267,806 (GRCm39) V112I probably benign Het
Dcdc5 A G 2: 106,195,895 (GRCm39) noncoding transcript Het
Disp1 A T 1: 182,917,027 (GRCm39) V133E probably damaging Het
Dlg4 A G 11: 69,921,751 (GRCm39) D30G probably damaging Het
Dop1a C T 9: 86,374,114 (GRCm39) T191I probably damaging Het
Enam T G 5: 88,650,173 (GRCm39) S561A probably benign Het
Fbxw8 G T 5: 118,263,092 (GRCm39) probably null Het
Filip1 A G 9: 79,725,214 (GRCm39) V1135A probably benign Het
Galnt6 T C 15: 100,614,059 (GRCm39) T81A probably benign Het
Ghdc T C 11: 100,657,814 (GRCm39) K472E probably benign Het
Gm10568 T G 1: 3,751,164 (GRCm39) noncoding transcript Het
Gm4953 T A 1: 158,995,929 (GRCm39) noncoding transcript Het
Gm6871 T A 7: 41,223,016 (GRCm39) H24L probably benign Het
Gpr155 G A 2: 73,197,882 (GRCm39) Q413* probably null Het
Grhl2 A G 15: 37,291,920 (GRCm39) probably null Het
Ighv1-31 G C 12: 114,793,128 (GRCm39) S36* probably null Het
Ighv8-5 A G 12: 115,031,462 (GRCm39) S26P probably damaging Het
Igkv17-134 A C 6: 67,697,910 (GRCm39) probably benign Het
Igkv5-48 A C 6: 69,703,833 (GRCm39) L24R probably damaging Het
Isg20l2 T A 3: 87,846,570 (GRCm39) V340E probably damaging Het
Lrrtm1 A G 6: 77,221,884 (GRCm39) Y447C probably damaging Het
Ltbp1 T C 17: 75,634,287 (GRCm39) S855P probably damaging Het
Mgat4e A T 1: 134,469,602 (GRCm39) N147K probably damaging Het
Mlc1 A G 15: 88,842,415 (GRCm39) L315P possibly damaging Het
Mrgpra2a A G 7: 47,076,292 (GRCm39) V322A probably benign Het
Mroh7 T C 4: 106,567,152 (GRCm39) probably null Het
Mybpc1 T A 10: 88,391,586 (GRCm39) K304* probably null Het
Nlrp14 A C 7: 106,785,790 (GRCm39) D622A possibly damaging Het
Nlrp1b T A 11: 71,108,103 (GRCm39) H466L probably benign Het
Nlrp4d T A 7: 10,112,336 (GRCm39) noncoding transcript Het
Nrxn3 A G 12: 89,227,130 (GRCm39) E628G possibly damaging Het
Nup133 T C 8: 124,653,870 (GRCm39) R530G possibly damaging Het
Nup98 A G 7: 101,845,007 (GRCm39) S21P unknown Het
Or2h2b-ps1 T C 17: 37,480,934 (GRCm39) I202V probably benign Het
Or2l13b T C 16: 19,348,768 (GRCm39) T301A probably benign Het
Or4f14b A T 2: 111,775,423 (GRCm39) I126K possibly damaging Het
Or52e8 G A 7: 104,624,686 (GRCm39) P169S possibly damaging Het
Or5k1 T A 16: 58,617,805 (GRCm39) T135S probably benign Het
Or6c66 T C 10: 129,461,676 (GRCm39) T85A probably damaging Het
Or8c11 T A 9: 38,290,038 (GRCm39) V287E probably null Het
Otog A T 7: 45,913,486 (GRCm39) Y773F probably damaging Het
Otog A T 7: 45,947,958 (GRCm39) I2320F probably damaging Het
Otogl T C 10: 107,715,378 (GRCm39) S433G probably benign Het
Pcdhb17 A T 18: 37,618,212 (GRCm39) M1L possibly damaging Het
Pde7b T A 10: 20,600,480 (GRCm39) probably benign Het
Pgm1 T C 4: 99,820,724 (GRCm39) V207A probably damaging Het
Pkd1 T A 17: 24,791,661 (GRCm39) V1116E probably damaging Het
Pkd1l1 T A 11: 8,879,360 (GRCm39) Y497F possibly damaging Het
Pomgnt2 T C 9: 121,812,013 (GRCm39) N256S probably benign Het
Pot1a A T 6: 25,746,020 (GRCm39) probably benign Het
Prdm9 T C 17: 15,764,585 (GRCm39) T732A probably benign Het
Prg4 T A 1: 150,331,574 (GRCm39) probably benign Het
Ptpro T C 6: 137,345,336 (GRCm39) V114A probably damaging Het
Pyurf A G 6: 57,668,933 (GRCm39) S20P unknown Het
Rasgrf1 A G 9: 89,858,805 (GRCm39) T488A probably benign Het
Rassf8 A T 6: 145,761,006 (GRCm39) K111* probably null Het
Reps1 A T 10: 17,983,436 (GRCm39) E426D probably damaging Het
Robo2 T C 16: 73,730,666 (GRCm39) K982R probably damaging Het
Rps23 T C 13: 91,071,871 (GRCm39) probably null Het
Scamp4 T A 10: 80,445,505 (GRCm39) V56E probably damaging Het
Serpina1c C T 12: 103,861,291 (GRCm39) V408I probably benign Het
Sigirr A G 7: 140,673,701 (GRCm39) W49R probably damaging Het
Slc17a6 A T 7: 51,308,489 (GRCm39) H271L possibly damaging Het
Slc7a5 G T 8: 122,611,861 (GRCm39) T389K probably damaging Het
Slf1 T A 13: 77,191,999 (GRCm39) H945L probably benign Het
Slit3 T C 11: 35,523,549 (GRCm39) S662P probably damaging Het
Snta1 C A 2: 154,218,938 (GRCm39) E466* probably null Het
Sowaha A G 11: 53,369,272 (GRCm39) L488P probably damaging Het
Spata17 C A 1: 186,926,208 (GRCm39) V41F probably damaging Het
Spta1 T A 1: 174,045,429 (GRCm39) probably null Het
Srrm2 T A 17: 24,034,362 (GRCm39) probably benign Het
Stard13 T C 5: 150,985,992 (GRCm39) N388S probably benign Het
Stmn3 T C 2: 180,950,630 (GRCm39) K59E probably damaging Het
Sval1 A G 6: 41,932,378 (GRCm39) N76S probably benign Het
Svep1 T C 4: 58,096,276 (GRCm39) H1448R possibly damaging Het
Sycp2 A T 2: 178,000,017 (GRCm39) D986E probably benign Het
Sytl5 C T X: 9,781,841 (GRCm39) P181L possibly damaging Het
Tbkbp1 G A 11: 97,029,956 (GRCm39) S400L probably benign Het
Tesc G T 5: 118,194,531 (GRCm39) probably benign Het
Tjp1 C T 7: 64,993,475 (GRCm39) G33R probably damaging Het
Tlr11 C A 14: 50,600,346 (GRCm39) F777L probably benign Het
Tmem156 A G 5: 65,248,805 (GRCm39) probably benign Het
Top3a A G 11: 60,643,204 (GRCm39) probably benign Het
Tpcn1 A G 5: 120,694,584 (GRCm39) W162R probably damaging Het
Tpd52l2 A T 2: 181,157,005 (GRCm39) probably benign Het
Trim80 G A 11: 115,337,281 (GRCm39) G381D probably damaging Het
Ugt1a10 C T 1: 88,142,845 (GRCm39) P113L probably damaging Het
Vmn2r117 TC T 17: 23,698,487 (GRCm39) probably null Het
Vmn2r56 T A 7: 12,449,462 (GRCm39) I259F possibly damaging Het
Vmn2r59 T C 7: 41,693,077 (GRCm39) T508A probably benign Het
Wdr73 A G 7: 80,541,456 (GRCm39) V362A probably damaging Het
Zdhhc21 G T 4: 82,738,568 (GRCm39) T207K possibly damaging Het
Zfp120 T A 2: 149,959,872 (GRCm39) Q150L probably damaging Het
Zfp212 C A 6: 47,908,433 (GRCm39) Q471K possibly damaging Het
Zfp804b C T 5: 6,820,540 (GRCm39) G841D possibly damaging Het
Znfx1 A T 2: 166,878,724 (GRCm39) M1884K probably damaging Het
Znfx1 G T 2: 166,879,402 (GRCm39) A1658D probably benign Het
Other mutations in Col4a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00693:Col4a3 APN 1 82,675,475 (GRCm39) missense unknown
IGL00847:Col4a3 APN 1 82,695,590 (GRCm39) missense probably damaging 1.00
IGL01011:Col4a3 APN 1 82,660,022 (GRCm39) missense unknown
IGL01102:Col4a3 APN 1 82,647,976 (GRCm39) missense unknown
IGL01102:Col4a3 APN 1 82,647,441 (GRCm39) missense unknown
IGL02071:Col4a3 APN 1 82,638,608 (GRCm39) critical splice donor site probably null
IGL02244:Col4a3 APN 1 82,647,492 (GRCm39) splice site probably benign
IGL02380:Col4a3 APN 1 82,650,509 (GRCm39) splice site probably benign
IGL02431:Col4a3 APN 1 82,657,344 (GRCm39) nonsense probably null
IGL02466:Col4a3 APN 1 82,647,913 (GRCm39) missense unknown
IGL02694:Col4a3 APN 1 82,688,515 (GRCm39) unclassified probably benign
IGL02709:Col4a3 APN 1 82,656,833 (GRCm39) missense unknown
IGL02752:Col4a3 APN 1 82,637,946 (GRCm39) missense unknown
IGL02792:Col4a3 APN 1 82,696,524 (GRCm39) missense probably damaging 1.00
IGL03203:Col4a3 APN 1 82,650,360 (GRCm39) nonsense probably null
IGL03218:Col4a3 APN 1 82,620,927 (GRCm39) splice site probably benign
FR4976:Col4a3 UTSW 1 82,696,627 (GRCm39) frame shift probably null
PIT4260001:Col4a3 UTSW 1 82,660,482 (GRCm39) missense unknown
PIT4515001:Col4a3 UTSW 1 82,660,024 (GRCm39) missense unknown
R0035:Col4a3 UTSW 1 82,650,474 (GRCm39) missense unknown
R0099:Col4a3 UTSW 1 82,695,714 (GRCm39) missense probably benign 0.41
R0433:Col4a3 UTSW 1 82,647,940 (GRCm39) missense unknown
R0573:Col4a3 UTSW 1 82,694,084 (GRCm39) missense possibly damaging 0.83
R0606:Col4a3 UTSW 1 82,650,307 (GRCm39) splice site probably benign
R0715:Col4a3 UTSW 1 82,629,879 (GRCm39) splice site probably benign
R0961:Col4a3 UTSW 1 82,686,297 (GRCm39) splice site probably benign
R1257:Col4a3 UTSW 1 82,694,086 (GRCm39) missense probably damaging 1.00
R1264:Col4a3 UTSW 1 82,621,022 (GRCm39) splice site probably benign
R1373:Col4a3 UTSW 1 82,667,808 (GRCm39) splice site probably benign
R1694:Col4a3 UTSW 1 82,668,384 (GRCm39) splice site probably null
R1895:Col4a3 UTSW 1 82,656,829 (GRCm39) missense unknown
R1925:Col4a3 UTSW 1 82,689,595 (GRCm39) unclassified probably benign
R1925:Col4a3 UTSW 1 82,678,094 (GRCm39) missense unknown
R2033:Col4a3 UTSW 1 82,695,732 (GRCm39) intron probably benign
R2044:Col4a3 UTSW 1 82,674,040 (GRCm39) missense unknown
R2122:Col4a3 UTSW 1 82,632,678 (GRCm39) missense unknown
R2282:Col4a3 UTSW 1 82,686,359 (GRCm39) missense unknown
R2318:Col4a3 UTSW 1 82,626,290 (GRCm39) splice site probably null
R2421:Col4a3 UTSW 1 82,647,996 (GRCm39) splice site probably benign
R2517:Col4a3 UTSW 1 82,658,431 (GRCm39) missense unknown
R2965:Col4a3 UTSW 1 82,626,321 (GRCm39) missense unknown
R3085:Col4a3 UTSW 1 82,628,979 (GRCm39) missense unknown
R3150:Col4a3 UTSW 1 82,634,858 (GRCm39) splice site probably null
R3947:Col4a3 UTSW 1 82,693,053 (GRCm39) missense probably damaging 1.00
R4756:Col4a3 UTSW 1 82,694,018 (GRCm39) critical splice acceptor site probably null
R4928:Col4a3 UTSW 1 82,688,698 (GRCm39) unclassified probably benign
R5044:Col4a3 UTSW 1 82,644,267 (GRCm39) missense unknown
R5557:Col4a3 UTSW 1 82,692,968 (GRCm39) unclassified probably benign
R5761:Col4a3 UTSW 1 82,693,778 (GRCm39) nonsense probably null
R5970:Col4a3 UTSW 1 82,694,050 (GRCm39) missense possibly damaging 0.76
R6576:Col4a3 UTSW 1 82,686,295 (GRCm39) splice site probably null
R6583:Col4a3 UTSW 1 82,619,197 (GRCm39) missense unknown
R6675:Col4a3 UTSW 1 82,646,646 (GRCm39) missense unknown
R7170:Col4a3 UTSW 1 82,693,630 (GRCm39) splice site probably null
R7592:Col4a3 UTSW 1 82,626,338 (GRCm39) missense unknown
R7624:Col4a3 UTSW 1 82,696,605 (GRCm39) missense probably benign
R7994:Col4a3 UTSW 1 82,640,627 (GRCm39) missense unknown
R8127:Col4a3 UTSW 1 82,627,481 (GRCm39) missense unknown
R8702:Col4a3 UTSW 1 82,688,700 (GRCm39) missense unknown
R8865:Col4a3 UTSW 1 82,647,483 (GRCm39) critical splice donor site probably null
R8973:Col4a3 UTSW 1 82,693,052 (GRCm39) missense probably benign 0.11
R9611:Col4a3 UTSW 1 82,678,018 (GRCm39) missense unknown
R9665:Col4a3 UTSW 1 82,668,301 (GRCm39) missense unknown
R9765:Col4a3 UTSW 1 82,646,678 (GRCm39) nonsense probably null
X0067:Col4a3 UTSW 1 82,693,880 (GRCm39) missense probably damaging 0.99
Z1177:Col4a3 UTSW 1 82,667,760 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGGTACTGAGCTGTCTACTCAG -3'
(R):5'- TGTGTTGTCTAGAGTGGAAAACC -3'

Sequencing Primer
(F):5'- ACAGTAACTAATCAATCGCTAACATG -3'
(R):5'- GAGTGGAAAACCATGTATTTTAGGC -3'
Posted On 2016-04-15