Incidental Mutation 'R5974:Col15a1'
ID 471601
Institutional Source Beutler Lab
Gene Symbol Col15a1
Ensembl Gene ENSMUSG00000028339
Gene Name collagen, type XV, alpha 1
Synonyms
MMRRC Submission 044157-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.082) question?
Stock # R5974 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 47208161-47313167 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47258683 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 358 (T358I)
Ref Sequence ENSEMBL: ENSMUSP00000080921 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082303] [ENSMUST00000102917]
AlphaFold O35206
Predicted Effect probably benign
Transcript: ENSMUST00000082303
AA Change: T358I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: T358I

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: T358I

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: T358I

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Anapc4 T C 5: 53,002,742 (GRCm39) L261P probably damaging Het
Aqp6 A G 15: 99,499,317 (GRCm39) Y10C probably benign Het
Ccnb1ip1 A T 14: 51,029,662 (GRCm39) N133K probably benign Het
Clip4 A T 17: 72,138,242 (GRCm39) H433L probably damaging Het
Cntnap5c T A 17: 58,183,480 (GRCm39) M62K probably benign Het
Col12a1 A G 9: 79,589,409 (GRCm39) S1049P probably damaging Het
Coro7 A T 16: 4,449,753 (GRCm39) D645E possibly damaging Het
Ctnnal1 C A 4: 56,817,067 (GRCm39) W585L probably damaging Het
Ctnnd1 C A 2: 84,451,259 (GRCm39) E114* probably null Het
Daam2 T A 17: 49,771,501 (GRCm39) S882C probably damaging Het
Des T A 1: 75,339,628 (GRCm39) S329T probably benign Het
Dido1 T C 2: 180,313,290 (GRCm39) D994G probably benign Het
Dock3 A G 9: 106,871,261 (GRCm39) V547A probably damaging Het
Ebf4 G A 2: 130,207,484 (GRCm39) A643T probably damaging Het
Ect2 C A 3: 27,199,112 (GRCm39) E194* probably null Het
Epb41l2 A G 10: 25,317,713 (GRCm39) I77V possibly damaging Het
Fat3 A T 9: 15,917,824 (GRCm39) probably null Het
Fbn2 T G 18: 58,181,992 (GRCm39) D1803A probably damaging Het
Fbxo10 T C 4: 45,040,631 (GRCm39) E858G probably benign Het
Fbxo24 C T 5: 137,617,912 (GRCm39) R284Q probably benign Het
Fsip2 T A 2: 82,793,657 (GRCm39) I425N possibly damaging Het
Fut9 A C 4: 25,620,090 (GRCm39) Y241* probably null Het
Galr2 A G 11: 116,173,852 (GRCm39) S161G possibly damaging Het
Gcc2 T A 10: 58,094,065 (GRCm39) L14I probably damaging Het
H2-T15 A T 17: 36,367,677 (GRCm39) D220E probably benign Het
Hdac11 G A 6: 91,150,196 (GRCm39) V332I probably benign Het
Hdac7 T C 15: 97,699,953 (GRCm39) probably null Het
Kif16b C T 2: 142,699,301 (GRCm39) G93D probably damaging Het
Krtap11-1 C A 16: 89,367,656 (GRCm39) C121F possibly damaging Het
Lacc1 T C 14: 77,272,517 (GRCm39) Q93R probably damaging Het
Lama1 T C 17: 68,080,722 (GRCm39) F1250S probably benign Het
Lmbrd2 A G 15: 9,172,202 (GRCm39) E332G probably benign Het
Lrp2 C A 2: 69,289,892 (GRCm39) C3649F probably damaging Het
Map1a T C 2: 121,134,857 (GRCm39) V1653A probably benign Het
Mrpl1 T C 5: 96,379,653 (GRCm39) probably null Het
Myo1b A G 1: 51,817,532 (GRCm39) S577P probably damaging Het
Nedd4 T A 9: 72,650,920 (GRCm39) probably null Het
Negr1 T A 3: 156,774,923 (GRCm39) V213E probably damaging Het
Nlk T G 11: 78,481,792 (GRCm39) Q223P probably benign Het
Ntn5 A G 7: 45,340,848 (GRCm39) H162R probably damaging Het
Nup42 T C 5: 24,372,400 (GRCm39) S63P probably damaging Het
Obscn C A 11: 58,967,373 (GRCm39) D477Y probably damaging Het
Or12d12 A T 17: 37,611,229 (GRCm39) I28N possibly damaging Het
Or5an1 T C 19: 12,261,200 (GRCm39) S263P probably damaging Het
Or8u10 T C 2: 85,915,225 (GRCm39) S299G probably benign Het
Pabpn1 A G 14: 55,134,617 (GRCm39) T280A probably damaging Het
Per3 A T 4: 151,127,194 (GRCm39) V109E possibly damaging Het
Pira2 A C 7: 3,844,576 (GRCm39) V485G probably benign Het
Pknox2 A G 9: 36,847,618 (GRCm39) L133P probably damaging Het
Pros1 A C 16: 62,721,030 (GRCm39) N195T probably damaging Het
Rffl T C 11: 82,696,977 (GRCm39) K289E probably damaging Het
Ripk1 T A 13: 34,214,084 (GRCm39) Y475* probably null Het
Ryr2 A G 13: 11,729,397 (GRCm39) probably null Het
Sgk1 T A 10: 21,872,148 (GRCm39) N241K probably damaging Het
Skint1 T A 4: 111,876,516 (GRCm39) S146T probably benign Het
Sox30 G T 11: 45,871,900 (GRCm39) D252Y probably damaging Het
Syngap1 A G 17: 27,182,012 (GRCm39) Y1002C probably damaging Het
Tiam2 A G 17: 3,465,084 (GRCm39) D271G possibly damaging Het
Ticam1 T C 17: 56,578,178 (GRCm39) T306A probably benign Het
Tmem252 A G 19: 24,651,632 (GRCm39) E67G probably benign Het
Tnxb T G 17: 34,904,681 (GRCm39) F1149V probably damaging Het
Ubr4 A G 4: 139,148,389 (GRCm39) probably null Het
Unc50 A G 1: 37,476,290 (GRCm39) D150G probably benign Het
Ywhag A C 5: 135,940,483 (GRCm39) L37R probably damaging Het
Zfp296 T C 7: 19,311,862 (GRCm39) L123P probably benign Het
Zfp418 G T 7: 7,185,199 (GRCm39) Q387H possibly damaging Het
Zfp882 T C 8: 72,666,999 (GRCm39) F53L 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
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'- CTGTCCCCTGGATTTTGCAAG -3'
(R):5'- TGCTTCTACCAGGAACAAGCC -3'

Sequencing Primer
(F):5'- CAAGTCTGGGACTGGTCTGAGAC -3'
(R):5'- CAGGAACAAGCCCTAGCAGG -3'
Posted On 2017-03-31