Incidental Mutation 'R3848:Col15a1'
ID 275750
Institutional Source Beutler Lab
Gene Symbol Col15a1
Ensembl Gene ENSMUSG00000028339
Gene Name collagen, type XV, alpha 1
Synonyms
MMRRC Submission 040896-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R3848 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 47208161-47313167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47289374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 48 (V48A)
Ref Sequence ENSEMBL: ENSMUSP00000119292 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082303] [ENSMUST00000102917] [ENSMUST00000107731] [ENSMUST00000140413] [ENSMUST00000146967]
AlphaFold O35206
Predicted Effect probably benign
Transcript: ENSMUST00000082303
AA Change: V835A

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: V835A

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 probably benign
Transcript: ENSMUST00000102917
AA Change: V857A

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: V857A

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 possibly damaging
Transcript: ENSMUST00000107731
AA Change: V23A

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103359
Gene: ENSMUSG00000028339
AA Change: V23A

DomainStartEndE-ValueType
Pfam:Collagen 6 81 6.5e-9 PFAM
Pfam:Collagen 48 102 3.8e-8 PFAM
low complexity region 153 168 N/A INTRINSIC
Pfam:Collagen 196 258 4.1e-8 PFAM
Pfam:Endostatin 275 355 2.5e-15 PFAM
Pfam:Endostatin 336 533 2.8e-98 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000140413
AA Change: V48A

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000119292
Gene: ENSMUSG00000028339
AA Change: V48A

DomainStartEndE-ValueType
Pfam:Collagen 27 121 7.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146967
SMART Domains Protein: ENSMUSP00000118637
Gene: ENSMUSG00000028339

DomainStartEndE-ValueType
Pfam:Collagen 2 55 6.3e-11 PFAM
Pfam:Collagen 96 141 2.9e-7 PFAM
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.8%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 86,336,783 (GRCm39) Q1564L probably damaging Het
Adgrv1 A G 13: 81,588,191 (GRCm39) V4465A probably damaging Het
Als2cl A G 9: 110,718,377 (GRCm39) probably benign Het
Anxa2 G T 9: 69,374,624 (GRCm39) D34Y probably damaging Het
Asic1 A G 15: 99,570,814 (GRCm39) N143S probably benign Het
Catsperb A C 12: 101,475,585 (GRCm39) Q376H probably damaging Het
Cd72 T C 4: 43,452,525 (GRCm39) E132G possibly damaging Het
Cdh16 T C 8: 105,344,473 (GRCm39) D22G possibly damaging Het
Cep170 G A 1: 176,583,409 (GRCm39) A990V probably benign Het
Col3a1 C A 1: 45,361,150 (GRCm39) P112T unknown Het
Cpeb2 T G 5: 43,394,788 (GRCm39) S64A probably damaging Het
Cplx3 G A 9: 57,515,600 (GRCm39) A425V possibly damaging Het
Ctsc A G 7: 87,958,818 (GRCm39) H366R probably benign Het
Cul5 T G 9: 53,529,286 (GRCm39) M800L probably benign Het
Dst C T 1: 34,251,400 (GRCm39) S4165F probably damaging Het
Efhb A T 17: 53,734,024 (GRCm39) probably benign Het
Fat4 T A 3: 39,061,410 (GRCm39) V4331D probably benign Het
Fbxl8 T C 8: 105,993,781 (GRCm39) S46P probably benign Het
Fbxo38 G A 18: 62,648,144 (GRCm39) S798F possibly damaging Het
Fggy T C 4: 95,489,361 (GRCm39) probably benign Het
Foxp4 A G 17: 48,186,453 (GRCm39) I442T unknown Het
Gm13941 T C 2: 110,935,198 (GRCm39) M11V unknown Het
Hoxd8 A G 2: 74,535,929 (GRCm39) Y13C possibly damaging Het
Hsf4 T C 8: 105,997,469 (GRCm39) F101L probably damaging Het
Jph2 G A 2: 163,181,332 (GRCm39) P611S probably benign Het
Kifbp A G 10: 62,405,249 (GRCm39) Y64H probably damaging Het
Kndc1 T C 7: 139,488,893 (GRCm39) S183P probably damaging Het
L3mbtl1 A G 2: 162,790,121 (GRCm39) E132G probably damaging Het
Lmo7 A G 14: 102,159,531 (GRCm39) probably null Het
Lrpprc T C 17: 85,078,355 (GRCm39) I308V probably benign Het
Mei1 T C 15: 81,997,218 (GRCm39) probably benign Het
Mki67 A C 7: 135,297,859 (GRCm39) S2392A probably benign Het
Naip2 A T 13: 100,315,940 (GRCm39) L280Q probably damaging Het
Naip2 G C 13: 100,315,941 (GRCm39) L280V probably damaging Het
Nek1 T A 8: 61,525,349 (GRCm39) F596I probably damaging Het
Or51v8 A G 7: 103,319,908 (GRCm39) V110A probably damaging Het
Or52e8b A G 7: 104,673,539 (GRCm39) V216A probably damaging Het
Or8u10 A T 2: 85,915,751 (GRCm39) Y123* probably null Het
Orc2 T C 1: 58,520,151 (GRCm39) T225A probably benign Het
P2ry1 G A 3: 60,910,880 (GRCm39) W6* probably null Het
Pam T A 1: 97,782,481 (GRCm39) probably benign Het
Pigt G A 2: 164,340,500 (GRCm39) probably benign Het
Pik3c2a A T 7: 115,963,785 (GRCm39) C71* probably null Het
Plcxd2 T C 16: 45,792,629 (GRCm39) T237A probably damaging Het
Pnrc1 T C 4: 33,246,252 (GRCm39) K236E probably damaging Het
Ppargc1b T A 18: 61,444,113 (GRCm39) D350V probably damaging Het
Rapgef6 T C 11: 54,582,134 (GRCm39) S1349P probably damaging Het
Rnf17 T C 14: 56,749,753 (GRCm39) V1433A probably damaging Het
Sell A T 1: 163,893,230 (GRCm39) K149* probably null Het
Sidt1 A G 16: 44,076,322 (GRCm39) probably benign Het
Slc6a5 C G 7: 49,577,306 (GRCm39) probably benign Het
Slc7a14 A T 3: 31,291,623 (GRCm39) N218K probably damaging Het
Spice1 C T 16: 44,199,254 (GRCm39) R569* probably null Het
Stk35 G T 2: 129,642,656 (GRCm39) A66S probably benign Het
Tmem245 A G 4: 56,926,298 (GRCm39) probably benign Het
Tnxb A C 17: 34,909,369 (GRCm39) R1632S possibly damaging Het
Ttc6 G A 12: 57,723,932 (GRCm39) R1020H probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Vmn2r105 A G 17: 20,428,952 (GRCm39) I708T possibly damaging Het
Vmn2r117 G T 17: 23,679,389 (GRCm39) H612N probably damaging Het
Vmn2r15 A T 5: 109,445,312 (GRCm39) D37E probably benign Het
Zbtb41 T A 1: 139,351,734 (GRCm39) H282Q probably benign Het
Zfp687 T C 3: 94,915,225 (GRCm39) D1092G probably damaging 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
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
R4812:Col15a1 UTSW 4 47,262,479 (GRCm39) missense possibly damaging 0.93
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'- AGCAAGAAGGCTTTGCTTGAG -3'
(R):5'- AGCACGGTAAAAGTTTGAGCCC -3'

Sequencing Primer
(F):5'- AAGGCTTTGCTTGAGTGGCG -3'
(R):5'- CACGGTAAAAGTTTGAGCCCTTGTC -3'
Posted On 2015-04-06