Incidental Mutation 'R6791:Col15a1'
ID 532573
Institutional Source Beutler Lab
Gene Symbol Col15a1
Ensembl Gene ENSMUSG00000028339
Gene Name collagen, type XV, alpha 1
Synonyms
MMRRC Submission 044904-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R6791 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 47208161-47313167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47300518 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 1060 (P1060S)
Ref Sequence ENSEMBL: ENSMUSP00000099981 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082303] [ENSMUST00000102917] [ENSMUST00000107730] [ENSMUST00000107731] [ENSMUST00000146967]
AlphaFold O35206
PDB Structure MURINE COLLAGEN ALPHA1(XV), ENDOSTATIN DOMAIN [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000082303
AA Change: P1038S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: P1038S

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: P1060S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: P1060S

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: ENSMUST00000107730
SMART Domains Protein: ENSMUSP00000103358
Gene: ENSMUSG00000028339

DomainStartEndE-ValueType
Pfam:Endostatin 20 100 8.7e-16 PFAM
Pfam:Endostatin 83 278 5.7e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107731
AA Change: P226S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103359
Gene: ENSMUSG00000028339
AA Change: P226S

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: 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 0.1313 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 96.7%
Validation Efficiency 100% (52/52)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,328,504 (GRCm39) C3526S probably damaging Het
Adgrf2 T C 17: 43,021,774 (GRCm39) N350S probably benign Het
Atp12a G A 14: 56,624,439 (GRCm39) probably null Het
AW551984 T G 9: 39,511,955 (GRCm39) S19R probably damaging Het
Bet1l A G 7: 140,434,418 (GRCm39) I77T possibly damaging Het
Cfap206 T C 4: 34,711,414 (GRCm39) I494M possibly damaging Het
Cog3 A G 14: 75,968,118 (GRCm39) I415T probably damaging Het
Ctrb1 A G 8: 112,415,981 (GRCm39) V71A possibly damaging Het
Ddhd2 T C 8: 26,242,242 (GRCm39) Y211C probably benign Het
Fbxl20 T C 11: 98,000,336 (GRCm39) T128A probably benign Het
Fdps A G 3: 89,002,659 (GRCm39) probably null Het
Gm4302 TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA 10: 100,177,361 (GRCm39) probably benign Het
Gm8369 T A 19: 11,489,200 (GRCm39) probably benign Het
Grm6 T C 11: 50,750,601 (GRCm39) V588A possibly damaging Het
Heatr6 T C 11: 83,649,167 (GRCm39) L174S probably benign Het
Kif1a G A 1: 92,993,859 (GRCm39) P364S probably damaging Het
Klk7 A G 7: 43,462,684 (GRCm39) D163G probably benign Het
Kmt2e TGCCGCCGCCGCCGCCACCGCCGCCGCCGC TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC 5: 23,704,474 (GRCm39) probably benign Het
Lamb3 T C 1: 193,017,169 (GRCm39) S787P possibly damaging Het
Lrp5 C T 19: 3,650,753 (GRCm39) C1227Y probably damaging Het
Mgst1 G A 6: 138,118,805 (GRCm39) probably benign Het
Mllt6 T C 11: 97,571,428 (GRCm39) S1022P probably damaging Het
Mtmr2 T C 9: 13,716,678 (GRCm39) I521T probably benign Het
Naalad2 T C 9: 18,296,426 (GRCm39) T75A possibly damaging Het
Nadsyn1 A T 7: 143,372,845 (GRCm39) I83N probably damaging Het
Naip2 T C 13: 100,291,468 (GRCm39) S1157G probably benign Het
Neurl4 T A 11: 69,799,336 (GRCm39) L904Q probably damaging Het
Ngp A C 9: 110,249,017 (GRCm39) I30L probably benign Het
Or5af1 T C 11: 58,722,903 (GRCm39) Y308H probably benign Het
Or6c5c G A 10: 129,299,023 (GRCm39) M159I probably benign Het
Orm2 A T 4: 63,282,196 (GRCm39) M125L probably benign Het
Pax2 A T 19: 44,777,260 (GRCm39) D151V possibly damaging Het
Polg A G 7: 79,109,857 (GRCm39) V382A probably benign Het
Ppargc1b C A 18: 61,440,747 (GRCm39) G724W probably damaging Het
Pramel11 T A 4: 143,622,252 (GRCm39) I368F probably benign Het
Prss16 A T 13: 22,190,237 (GRCm39) V307E probably damaging Het
Prss54 T G 8: 96,291,283 (GRCm39) probably null Het
Rspo1 A G 4: 124,900,976 (GRCm39) H108R probably benign Het
Sh3bp5l C A 11: 58,237,098 (GRCm39) H352N probably damaging Het
Skor1 T C 9: 63,047,636 (GRCm39) probably null Het
Smad6 A G 9: 63,919,509 (GRCm39) Y289H probably benign Het
Spart G A 3: 55,034,982 (GRCm39) G456D probably damaging Het
Spg11 T C 2: 121,923,924 (GRCm39) E799G probably damaging Het
Tbc1d4 T G 14: 101,845,695 (GRCm39) K68Q probably damaging Het
Treml2 A G 17: 48,616,247 (GRCm39) M296V probably benign Het
Ugt2b1 C A 5: 87,067,116 (GRCm39) D436Y probably damaging Het
Usp9y A T Y: 1,325,042 (GRCm39) probably null Homo
Vmn2r6 T C 3: 64,445,580 (GRCm39) Y626C probably damaging Het
Xpc G A 6: 91,483,839 (GRCm39) A169V probably benign Het
Zfp131 A G 13: 120,228,129 (GRCm39) V506A probably damaging Het
Zfp74 A G 7: 29,633,860 (GRCm39) I616T 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
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
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'- GATGCCTAGGCTTGCTGGTATC -3'
(R):5'- TTTAAAGAAGATGGGAGGCTCC -3'

Sequencing Primer
(F):5'- GCTTGCTGGTATCTTTGGACTCC -3'
(R):5'- GGCCCTCTATCAAACAAATAGACTG -3'
Posted On 2018-08-29