Incidental Mutation 'R4812:Col15a1'
ID 369512
Institutional Source Beutler Lab
Gene Symbol Col15a1
Ensembl Gene ENSMUSG00000028339
Gene Name collagen, type XV, alpha 1
Synonyms
MMRRC Submission 042431-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R4812 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 47208161-47313167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47262479 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 511 (P511L)
Ref Sequence ENSEMBL: ENSMUSP00000080921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082303] [ENSMUST00000102917]
AlphaFold O35206
Predicted Effect possibly damaging
Transcript: ENSMUST00000082303
AA Change: P511L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: P511L

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TSPN 40 228 2.53e-56 SMART
LamG 89 227 1.7e-7 SMART
low complexity region 236 251 N/A INTRINSIC
low complexity region 332 344 N/A INTRINSIC
low complexity region 541 567 N/A INTRINSIC
Pfam:Collagen 603 663 1.4e-10 PFAM
Pfam:Collagen 650 719 2.1e-9 PFAM
low complexity region 722 742 N/A INTRINSIC
low complexity region 750 759 N/A INTRINSIC
Pfam:Collagen 782 832 2.7e-10 PFAM
Pfam:Collagen 838 894 5.1e-10 PFAM
low complexity region 965 980 N/A INTRINSIC
low complexity region 1010 1020 N/A INTRINSIC
Pfam:Endostatin 1087 1164 9.3e-15 PFAM
Pfam:Endostatin 1148 1345 1.4e-97 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000102917
AA Change: P511L

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: P511L

DomainStartEndE-ValueType
signal peptide 1 31 N/A INTRINSIC
TSPN 40 228 2.53e-56 SMART
LamG 89 227 1.7e-7 SMART
low complexity region 236 251 N/A INTRINSIC
low complexity region 332 344 N/A INTRINSIC
low complexity region 541 567 N/A INTRINSIC
Pfam:Collagen 603 666 5.6e-10 PFAM
Pfam:Collagen 659 720 3.1e-10 PFAM
low complexity region 737 764 N/A INTRINSIC
low complexity region 772 781 N/A INTRINSIC
Pfam:Collagen 804 854 9.5e-10 PFAM
Pfam:Collagen 860 916 1.8e-9 PFAM
low complexity region 987 1002 N/A INTRINSIC
low complexity region 1032 1042 N/A INTRINSIC
low complexity region 1050 1109 N/A INTRINSIC
Pfam:Endostatin 1112 1362 2.8e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148103
Meta Mutation Damage Score 0.1341 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.2%
Validation Efficiency 93% (124/133)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but the strongest expression is localized to basement membrane zones so it may function to adhere basement membranes to underlying connective tissue stroma. The proteolytically produced C-terminal fragment of type XV collagen is restin, a potentially antiangiogenic protein that is closely related to endostatin. Mouse studies have shown that collagen XV deficiency is associated with muscle and microvessel deterioration. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutation of this gene results in abnormal muscle cells of variable size (including atrophic and split muscle cells), susceptibility to exercise-induced muscle injury, and abnormalities in heart and skeletal muscle capillary endothelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 128 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017G19Rik C T 3: 40,575,633 (GRCm39) noncoding transcript Het
Abca5 T C 11: 110,192,647 (GRCm39) D681G probably damaging Het
Actl11 T C 9: 107,808,329 (GRCm39) V884A probably damaging Het
Akr1c14 G A 13: 4,129,165 (GRCm39) V187M probably damaging Het
Apbb1 A T 7: 105,223,232 (GRCm39) N126K probably damaging Het
Bmt2 G T 6: 13,677,799 (GRCm39) R12S unknown Het
Btrc G A 19: 45,411,603 (GRCm39) C9Y possibly damaging Het
C5ar1 A C 7: 15,982,258 (GRCm39) probably null Het
C8a C T 4: 104,719,788 (GRCm39) probably null Het
Cabin1 A G 10: 75,482,428 (GRCm39) S2172P possibly damaging Het
Calcoco2 T C 11: 95,998,276 (GRCm39) D49G probably damaging Het
Camta1 C T 4: 151,215,999 (GRCm39) D974N probably null Het
Car6 T C 4: 150,281,872 (GRCm39) E47G probably damaging Het
Ccnd3 G A 17: 47,908,505 (GRCm39) probably null Het
Celf5 A T 10: 81,306,573 (GRCm39) V30E probably damaging Het
Cfap251 G A 5: 123,425,368 (GRCm39) V776I probably benign Het
Cfap46 T A 7: 139,215,916 (GRCm39) D1513V probably damaging Het
Cinp T C 12: 110,846,174 (GRCm39) Y84C probably damaging Het
Cnih1 A G 14: 47,014,001 (GRCm39) I154T probably damaging Het
Col4a4 C T 1: 82,439,874 (GRCm39) V1364M unknown Het
Cplane1 T G 15: 8,230,607 (GRCm39) probably null Het
Crtam A G 9: 40,895,621 (GRCm39) L38P probably damaging Het
Ctnna1 T A 18: 35,372,530 (GRCm39) V495D probably damaging Het
Cubn T C 2: 13,463,887 (GRCm39) Y606C probably damaging Het
Cyp4f16 C T 17: 32,765,652 (GRCm39) A345V probably null Het
Dctn1 A T 6: 83,166,919 (GRCm39) M160L probably benign Het
Dip2c T A 13: 9,687,166 (GRCm39) C366* probably null Het
Dnajc2 G A 5: 21,968,484 (GRCm39) S401L probably benign Het
Dnmt3l A G 10: 77,893,128 (GRCm39) I302V probably benign Het
Dvl2 T C 11: 69,902,119 (GRCm39) probably benign Het
Edn1 T G 13: 42,457,116 (GRCm39) S50A probably benign Het
Efhc1 A T 1: 21,060,871 (GRCm39) R636W probably damaging Het
Epg5 T A 18: 78,022,399 (GRCm39) H1047Q probably benign Het
Etv1 T G 12: 38,911,287 (GRCm39) V371G probably damaging Het
Fap T A 2: 62,349,365 (GRCm39) I475F probably damaging Het
Fbxw15 T C 9: 109,388,990 (GRCm39) I140V probably benign Het
Fer A G 17: 64,241,292 (GRCm39) T311A probably benign Het
Fh1 A G 1: 175,429,025 (GRCm39) W497R probably damaging Het
Flot2 T A 11: 77,944,191 (GRCm39) L45Q probably damaging Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Fmnl1 T C 11: 103,089,390 (GRCm39) probably benign Het
Garin5b G A 7: 4,762,071 (GRCm39) T295M probably damaging Het
Ggta1 C T 2: 35,292,735 (GRCm39) V203I probably benign Het
Gm19345 C T 7: 19,591,798 (GRCm39) V204M probably damaging Het
Gm4204 T A 1: 135,160,227 (GRCm39) noncoding transcript Het
Gm6124 C G 7: 38,872,319 (GRCm39) noncoding transcript Het
Gprin3 T A 6: 59,330,350 (GRCm39) K652N possibly damaging Het
Gucy1b2 T C 14: 62,653,346 (GRCm39) probably null Het
Hace1 C A 10: 45,562,699 (GRCm39) A738E probably benign Het
Hectd1 C T 12: 51,874,134 (GRCm39) probably null Het
Hnrnpdl T C 5: 100,184,331 (GRCm39) probably benign Het
Hyou1 T C 9: 44,298,418 (GRCm39) probably benign Het
Ifi44l G A 3: 151,465,336 (GRCm39) A138V probably benign Het
Igkv16-104 A T 6: 68,402,829 (GRCm39) I41F possibly damaging Het
Ints7 T A 1: 191,326,542 (GRCm39) D171E possibly damaging Het
Irag2 G A 6: 145,093,737 (GRCm39) G120S probably damaging Het
Kmt2a A T 9: 44,742,651 (GRCm39) probably benign Het
Kmt2e T C 5: 23,707,585 (GRCm39) V1716A possibly damaging Het
Krtap5-1 G A 7: 141,850,628 (GRCm39) S60F unknown Het
Lama4 G A 10: 38,948,765 (GRCm39) V843I probably benign Het
Laptm5 A G 4: 130,640,749 (GRCm39) probably null Het
Lbhd1 G A 19: 8,866,538 (GRCm39) A193T probably damaging Het
Lce3f C T 3: 92,900,247 (GRCm39) P23S unknown Het
Mecom A C 3: 30,194,517 (GRCm39) M1R probably null Het
Mindy4 A C 6: 55,256,088 (GRCm39) T531P possibly damaging Het
Mrpl3 A G 9: 104,951,023 (GRCm39) N263S probably damaging Het
Myo18b T C 5: 112,957,584 (GRCm39) K1460E possibly damaging Het
Myof A G 19: 37,905,007 (GRCm39) Y852H probably damaging Het
Nefl T G 14: 68,321,734 (GRCm39) V108G probably damaging Het
Nid1 T A 13: 13,681,053 (GRCm39) L1061* probably null Het
Nim1k T A 13: 120,173,920 (GRCm39) M325L probably benign Het
Nlrp1c-ps T C 11: 71,143,131 (GRCm39) noncoding transcript Het
Npsr1 C T 9: 24,201,252 (GRCm39) T59I probably damaging Het
Nr2c1 A G 10: 94,024,114 (GRCm39) T440A probably benign Het
Nup160 C T 2: 90,556,035 (GRCm39) T1245I probably damaging Het
Nup88 T A 11: 70,856,552 (GRCm39) T194S probably damaging Het
Oas3 A G 5: 120,899,212 (GRCm39) probably benign Het
Odad2 T G 18: 7,288,634 (GRCm39) T78P possibly damaging Het
Opn1sw A T 6: 29,378,038 (GRCm39) M252K probably damaging Het
Oprm1 T G 10: 6,782,698 (GRCm39) probably benign Het
Or10ag59 A G 2: 87,406,087 (GRCm39) I220V probably benign Het
Or2y1g T A 11: 49,171,284 (GRCm39) I103K possibly damaging Het
Or4x13 T A 2: 90,231,440 (GRCm39) M145K probably benign Het
Pcdha2 T A 18: 37,072,861 (GRCm39) V164E probably benign Het
Pclo A G 5: 14,590,039 (GRCm39) T780A unknown Het
Pcnx2 T A 8: 126,592,678 (GRCm39) Q762L probably benign Het
Pcyt2 A T 11: 120,505,251 (GRCm39) probably benign Het
Pdpr A G 8: 111,843,349 (GRCm39) N294D probably benign Het
Perm1 T A 4: 156,303,193 (GRCm39) V579E possibly damaging Het
Pgk2 T A 17: 40,518,281 (GRCm39) K382N possibly damaging Het
Plcb4 T A 2: 135,849,801 (GRCm39) L205Q probably damaging Het
Plekha3 C T 2: 76,516,975 (GRCm39) T109I probably damaging Het
Pnn T A 12: 59,118,404 (GRCm39) V329E possibly damaging Het
Ptpn13 A G 5: 103,671,481 (GRCm39) I469M probably benign Het
Rapgef3 A G 15: 97,651,684 (GRCm39) V603A probably benign Het
Rbms1 C T 2: 60,623,113 (GRCm39) V75I possibly damaging Het
Rbp3 T A 14: 33,676,731 (GRCm39) D226E probably damaging Het
Robo2 A T 16: 73,713,176 (GRCm39) N1189K probably benign Het
Rragd A G 4: 33,018,766 (GRCm39) T270A probably benign Het
Rxfp1 T A 3: 79,557,889 (GRCm39) T530S probably benign Het
Ryr3 T C 2: 112,742,581 (GRCm39) E479G probably damaging Het
Scd2 A T 19: 44,289,841 (GRCm39) I279F probably damaging Het
Sh3d19 A T 3: 86,031,074 (GRCm39) D746V probably damaging Het
Shroom4 A G X: 6,536,180 (GRCm39) K1133E probably benign Het
Sirpb1c A G 3: 15,887,386 (GRCm39) V151A probably damaging Het
Slc26a2 A T 18: 61,335,093 (GRCm39) I120N probably damaging Het
Slco1a1 A G 6: 141,864,319 (GRCm39) S494P probably damaging Het
Srebf2 A T 15: 82,088,026 (GRCm39) T1061S probably damaging Het
Sspo T C 6: 48,467,444 (GRCm39) L4202P probably benign Het
Synj2 G A 17: 6,060,939 (GRCm39) G215E probably damaging Het
Tbc1d19 T C 5: 53,967,148 (GRCm39) V16A probably damaging Het
Tektl1 T C 10: 78,585,050 (GRCm39) H262R probably benign Het
Tiparp T C 3: 65,460,190 (GRCm39) I495T possibly damaging Het
Tipin A G 9: 64,211,694 (GRCm39) H260R probably benign Het
Tle1 A G 4: 72,063,591 (GRCm39) S221P probably damaging Het
Tmem94 T A 11: 115,686,938 (GRCm39) L1101* probably null Het
Trim43b C T 9: 88,973,533 (GRCm39) D67N probably benign Het
Ubn2 T A 6: 38,440,661 (GRCm39) C178S probably benign Het
Vmn1r54 T C 6: 90,246,307 (GRCm39) F74L probably benign Het
Vmn2r24 A G 6: 123,756,144 (GRCm39) H72R probably benign Het
Wnk1 C T 6: 119,929,732 (GRCm39) V850I probably benign Het
Zan T G 5: 137,454,547 (GRCm39) Y1419S unknown Het
Zbtb14 T A 17: 69,694,577 (GRCm39) Y92N probably damaging Het
Zfand5 A G 19: 21,255,101 (GRCm39) K116E probably benign Het
Zfhx3 A G 8: 109,674,593 (GRCm39) E1881G possibly damaging Het
Zfp280b A G 10: 75,874,924 (GRCm39) K268E probably benign Het
Zfp541 A G 7: 15,813,035 (GRCm39) I563V probably benign Het
Zfy2 T A Y: 2,106,334 (GRCm39) I767L probably benign Het
Other mutations in Col15a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Col15a1 APN 4 47,208,450 (GRCm39) missense possibly damaging 0.86
IGL01561:Col15a1 APN 4 47,312,118 (GRCm39) missense possibly damaging 0.87
IGL01750:Col15a1 APN 4 47,303,897 (GRCm39) missense probably damaging 1.00
IGL02112:Col15a1 APN 4 47,253,985 (GRCm39) splice site probably benign
IGL02158:Col15a1 APN 4 47,300,606 (GRCm39) splice site probably null
IGL02268:Col15a1 APN 4 47,245,380 (GRCm39) missense probably damaging 0.99
IGL02325:Col15a1 APN 4 47,289,364 (GRCm39) missense probably damaging 1.00
IGL02583:Col15a1 APN 4 47,279,866 (GRCm39) missense probably benign 0.00
IGL02699:Col15a1 APN 4 47,284,471 (GRCm39) unclassified probably benign
IGL03167:Col15a1 APN 4 47,282,635 (GRCm39) missense probably damaging 0.99
IGL03174:Col15a1 APN 4 47,282,666 (GRCm39) missense probably damaging 0.99
R0119:Col15a1 UTSW 4 47,262,950 (GRCm39) missense probably damaging 0.98
R0299:Col15a1 UTSW 4 47,262,950 (GRCm39) missense probably damaging 0.98
R0499:Col15a1 UTSW 4 47,262,950 (GRCm39) missense probably damaging 0.98
R0567:Col15a1 UTSW 4 47,293,231 (GRCm39) missense possibly damaging 0.89
R0607:Col15a1 UTSW 4 47,282,654 (GRCm39) missense probably damaging 0.99
R0992:Col15a1 UTSW 4 47,300,491 (GRCm39) missense probably damaging 0.96
R1165:Col15a1 UTSW 4 47,257,275 (GRCm39) splice site probably benign
R1191:Col15a1 UTSW 4 47,254,083 (GRCm39) nonsense probably null
R1852:Col15a1 UTSW 4 47,299,278 (GRCm39) critical splice donor site probably null
R2349:Col15a1 UTSW 4 47,306,742 (GRCm39) missense probably damaging 0.99
R2512:Col15a1 UTSW 4 47,245,868 (GRCm39) missense possibly damaging 0.95
R2517:Col15a1 UTSW 4 47,208,492 (GRCm39) missense probably damaging 0.98
R2895:Col15a1 UTSW 4 47,312,091 (GRCm39) missense possibly damaging 0.59
R3688:Col15a1 UTSW 4 47,258,689 (GRCm39) missense probably benign 0.00
R3848:Col15a1 UTSW 4 47,289,374 (GRCm39) missense possibly damaging 0.73
R4430:Col15a1 UTSW 4 47,245,705 (GRCm39) missense probably damaging 1.00
R4587:Col15a1 UTSW 4 47,257,184 (GRCm39) missense probably damaging 1.00
R4793:Col15a1 UTSW 4 47,262,997 (GRCm39) missense possibly damaging 0.83
R4922:Col15a1 UTSW 4 47,258,719 (GRCm39) missense probably benign
R5233:Col15a1 UTSW 4 47,296,112 (GRCm39) missense possibly damaging 0.74
R5602:Col15a1 UTSW 4 47,312,087 (GRCm39) missense probably damaging 1.00
R5786:Col15a1 UTSW 4 47,280,865 (GRCm39) missense possibly damaging 0.84
R5910:Col15a1 UTSW 4 47,289,514 (GRCm39) missense probably damaging 1.00
R5921:Col15a1 UTSW 4 47,300,602 (GRCm39) missense probably damaging 0.99
R5974:Col15a1 UTSW 4 47,258,683 (GRCm39) missense probably benign 0.02
R5985:Col15a1 UTSW 4 47,284,507 (GRCm39) missense probably damaging 0.99
R6010:Col15a1 UTSW 4 47,245,630 (GRCm39) missense probably benign 0.03
R6720:Col15a1 UTSW 4 47,247,552 (GRCm39) critical splice donor site probably null
R6791:Col15a1 UTSW 4 47,300,518 (GRCm39) missense probably damaging 1.00
R6855:Col15a1 UTSW 4 47,245,544 (GRCm39) missense probably damaging 1.00
R6965:Col15a1 UTSW 4 47,247,533 (GRCm39) missense probably damaging 0.96
R7201:Col15a1 UTSW 4 47,307,752 (GRCm39) missense possibly damaging 0.92
R7261:Col15a1 UTSW 4 47,269,088 (GRCm39) missense probably benign 0.03
R7273:Col15a1 UTSW 4 47,284,467 (GRCm39) splice site probably null
R7413:Col15a1 UTSW 4 47,245,431 (GRCm39) missense possibly damaging 0.81
R7658:Col15a1 UTSW 4 47,245,591 (GRCm39) missense possibly damaging 0.46
R8032:Col15a1 UTSW 4 47,288,108 (GRCm39) missense unknown
R8075:Col15a1 UTSW 4 47,208,359 (GRCm39) missense probably benign 0.07
R8130:Col15a1 UTSW 4 47,312,196 (GRCm39) missense probably damaging 0.97
R8536:Col15a1 UTSW 4 47,208,536 (GRCm39) critical splice donor site probably null
R8873:Col15a1 UTSW 4 47,247,552 (GRCm39) critical splice donor site probably null
R8887:Col15a1 UTSW 4 47,287,091 (GRCm39) missense probably damaging 1.00
R9141:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9143:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9161:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9176:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9177:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9181:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9184:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9185:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9214:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9268:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9269:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9362:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9367:Col15a1 UTSW 4 47,245,603 (GRCm39) missense probably damaging 1.00
R9385:Col15a1 UTSW 4 47,300,473 (GRCm39) nonsense probably null
R9391:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9392:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9419:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9421:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9422:Col15a1 UTSW 4 47,293,364 (GRCm39) critical splice acceptor site probably null
R9426:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9427:Col15a1 UTSW 4 47,288,200 (GRCm39) unclassified probably benign
R9429:Col15a1 UTSW 4 47,310,439 (GRCm39) missense probably damaging 1.00
R9646:Col15a1 UTSW 4 47,257,187 (GRCm39) missense possibly damaging 0.73
R9747:Col15a1 UTSW 4 47,312,208 (GRCm39) missense probably damaging 1.00
Z1177:Col15a1 UTSW 4 47,245,807 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGTCCAAAATGCCCCTCAAG -3'
(R):5'- GCAACCTGGCCCCTTTTAAAC -3'

Sequencing Primer
(F):5'- TCAAGGCTTTTGAGGAGGAG -3'
(R):5'- TGTCCAGTTGGAGTCTCCCAAG -3'
Posted On 2016-02-04