Incidental Mutation 'R5985:Col15a1'
ID 481590
Institutional Source Beutler Lab
Gene Symbol Col15a1
Ensembl Gene ENSMUSG00000028339
Gene Name collagen, type XV, alpha 1
Synonyms
MMRRC Submission 044165-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5985 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 47208161-47313167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47284507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 821 (F821L)
Ref Sequence ENSEMBL: ENSMUSP00000099981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082303] [ENSMUST00000102917] [ENSMUST00000107731] [ENSMUST00000140413] [ENSMUST00000146967]
AlphaFold O35206
PDB Structure MURINE COLLAGEN ALPHA1(XV), ENDOSTATIN DOMAIN [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000082303
AA Change: F799L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: F799L

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 damaging
Transcript: ENSMUST00000102917
AA Change: F821L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: F821L

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 probably benign
Transcript: ENSMUST00000107731
SMART Domains Protein: ENSMUSP00000103359
Gene: ENSMUSG00000028339

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 probably benign
Transcript: ENSMUST00000140413
SMART Domains Protein: ENSMUSP00000119292
Gene: ENSMUSG00000028339

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 0.0774 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.2%
Validation Efficiency 96% (47/49)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A C 11: 9,241,628 (GRCm39) I1164L probably benign Het
Actn1 C A 12: 80,215,169 (GRCm39) G864V probably damaging Het
Adgrf1 T C 17: 43,604,146 (GRCm39) I34T probably benign Het
Ankrd10 T A 8: 11,669,077 (GRCm39) K225* probably null Het
Ankrd29 G A 18: 12,412,832 (GRCm39) A115V probably damaging Het
Armh3 A T 19: 45,808,763 (GRCm39) Y643N probably damaging Het
Atg2a A G 19: 6,304,667 (GRCm39) T1175A probably damaging Het
Atp12a A G 14: 56,621,798 (GRCm39) D781G probably damaging Het
B4galnt3 G A 6: 120,187,119 (GRCm39) P759S probably damaging Het
Card10 T C 15: 78,675,411 (GRCm39) I448V probably benign Het
Cpeb3 T C 19: 37,064,952 (GRCm39) Y498C probably damaging Het
Defb37 A T 8: 19,036,347 (GRCm39) C58S probably damaging Het
Faap20 T C 4: 155,334,797 (GRCm39) probably benign Het
Frem1 C T 4: 82,884,287 (GRCm39) V1204I probably benign Het
Gal3st2 T C 1: 93,801,335 (GRCm39) V46A possibly damaging Het
Gan C T 8: 117,922,557 (GRCm39) S430L possibly damaging Het
Gas2 T A 7: 51,593,424 (GRCm39) I168K probably damaging Het
Gli3 A G 13: 15,898,140 (GRCm39) D740G probably damaging Het
Gm3898 G A 9: 43,741,329 (GRCm39) noncoding transcript Het
Gria4 T C 9: 4,503,593 (GRCm39) Q341R probably damaging Het
Herpud1 G A 8: 95,117,422 (GRCm39) R2Q probably damaging Het
Klf15 G A 6: 90,443,703 (GRCm39) G93R possibly damaging Het
Mtmr7 A G 8: 41,004,873 (GRCm39) F568L probably benign Het
Myod1 A G 7: 46,027,222 (GRCm39) Y229C probably damaging Het
Or12e14 A G 2: 87,187,949 (GRCm39) I54V probably benign Het
Or5l13 A G 2: 87,779,665 (GRCm39) M304T probably benign Het
Phf11b A G 14: 59,559,027 (GRCm39) L235P possibly damaging Het
Pira1 C A 7: 3,740,316 (GRCm39) G302C probably damaging Het
Plekha6 G C 1: 133,200,045 (GRCm39) R208P possibly damaging Het
Prox1 A T 1: 189,879,152 (GRCm39) F675L possibly damaging Het
Rnf144a C T 12: 26,367,779 (GRCm39) E176K probably benign Het
Safb2 T C 17: 56,870,181 (GRCm39) E965G possibly damaging Het
Sik3 A G 9: 46,122,973 (GRCm39) N874S probably damaging Het
Slitrk3 T C 3: 72,958,233 (GRCm39) I180V probably damaging Het
Speg T C 1: 75,383,328 (GRCm39) V1141A possibly damaging Het
Spns1 G A 7: 125,975,902 (GRCm39) T84I probably benign Het
Syne2 C G 12: 76,012,933 (GRCm39) P2709R probably damaging Het
Terb1 A T 8: 105,178,439 (GRCm39) S662T probably benign Het
Terb1 A G 8: 105,208,948 (GRCm39) S377P probably damaging Het
Tph1 A G 7: 46,303,205 (GRCm39) Y258H probably damaging Het
Trip12 T A 1: 84,703,492 (GRCm39) E1881D probably damaging Het
Trpc7 A G 13: 56,958,358 (GRCm39) L412P probably damaging Het
Ttll13 C T 7: 79,904,386 (GRCm39) A337V probably damaging Het
Ugt2b1 T C 5: 87,067,527 (GRCm39) K344E possibly damaging Het
Vmn1r36 T A 6: 66,693,855 (GRCm39) I7F probably benign Het
Vmn2r14 A T 5: 109,368,082 (GRCm39) N303K possibly damaging Het
Vmn2r25 A G 6: 123,800,587 (GRCm39) V585A probably benign Het
Zan A C 5: 137,444,299 (GRCm39) probably null Het
Zfp423 A T 8: 88,508,774 (GRCm39) N502K possibly damaging Het
Zfp473 C T 7: 44,382,752 (GRCm39) R526Q 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
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
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
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'- ATCAGTGACTTACCCAGGTTCC -3'
(R):5'- GAGAACCTGACACTTACGGC -3'

Sequencing Primer
(F):5'- GTGACTTACCCAGGTTCCCATGTC -3'
(R):5'- TGTCTGCGGAGAGTATGA -3'
Posted On 2017-06-26