Incidental Mutation 'R9161:Col15a1'
ID 695683
Institutional Source Beutler Lab
Gene Symbol Col15a1
Ensembl Gene ENSMUSG00000028339
Gene Name collagen, type XV, alpha 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.072) question?
Stock # R9161 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 47208161-47313167 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to C at 47288200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082303] [ENSMUST00000102917] [ENSMUST00000107731] [ENSMUST00000140413] [ENSMUST00000146967]
AlphaFold O35206
Predicted Effect probably benign
Transcript: ENSMUST00000082303
SMART Domains Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339

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
SMART Domains Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339

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 null
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 0.0846 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 98% (58/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T A 8: 13,272,270 (GRCm39) N1496I probably damaging Het
Arglu1 T C 8: 8,733,941 (GRCm39) E125G possibly damaging Het
Atad2 A T 15: 57,989,185 (GRCm39) I225N possibly damaging Het
Atrn T C 2: 130,777,470 (GRCm39) F173S probably damaging Het
BC024063 T A 10: 81,945,044 (GRCm39) H221Q probably benign Het
Bnip5 T A 17: 29,128,387 (GRCm39) K175N probably damaging Het
Btbd16 C T 7: 130,417,516 (GRCm39) R344C probably damaging Het
Cdh24 A T 14: 54,876,097 (GRCm39) Y182N probably damaging Het
Cdkl4 A G 17: 80,851,120 (GRCm39) L194P probably damaging Het
Cep152 T A 2: 125,408,574 (GRCm39) R1327* probably null Het
Ckap5 A T 2: 91,445,653 (GRCm39) M1797L probably benign Het
Clasp1 A T 1: 118,474,651 (GRCm39) N895I probably damaging Het
Cotl1 G T 8: 120,549,456 (GRCm39) D85E probably benign Het
Cryba4 A C 5: 112,396,039 (GRCm39) probably null Het
Dync1h1 A G 12: 110,625,023 (GRCm39) K3817E probably benign Het
Ehd3 A T 17: 74,134,480 (GRCm39) R280* probably null Het
Erp29 T C 5: 121,583,146 (GRCm39) E260G possibly damaging Het
Fam135b T A 15: 71,334,417 (GRCm39) R926W possibly damaging Het
Fbn1 T C 2: 125,192,270 (GRCm39) N1413S probably damaging Het
Fbxw8 A G 5: 118,251,727 (GRCm39) V262A probably damaging Het
Gabrb1 A G 5: 72,187,199 (GRCm39) D164G probably damaging Het
Galnt15 T A 14: 31,780,116 (GRCm39) I471N probably damaging Het
Get1 A T 16: 95,953,139 (GRCm39) R77W probably damaging Het
Gon4l A G 3: 88,808,955 (GRCm39) N1733S probably damaging Het
Hmcn2 A G 2: 31,242,758 (GRCm39) T562A probably benign Het
Inha A G 1: 75,484,144 (GRCm39) I85V probably damaging Het
Kif28 A C 1: 179,526,244 (GRCm39) V897G probably benign Het
Map1s G A 8: 71,366,250 (GRCm39) R385H probably damaging Het
Map2 T C 1: 66,477,503 (GRCm39) V1750A possibly damaging Het
Mbd1 C T 18: 74,407,792 (GRCm39) P273L probably benign Het
Megf6 A G 4: 154,352,172 (GRCm39) T1226A probably benign Het
Muc5ac T A 7: 141,353,026 (GRCm39) C791S possibly damaging Het
Nlrc5 A C 8: 95,213,274 (GRCm39) H883P probably damaging Het
Nrip3 C T 7: 109,365,777 (GRCm39) R91H probably damaging Het
Or10w1 G A 19: 13,632,038 (GRCm39) V82M probably damaging Het
Or12j3 C T 7: 139,952,989 (GRCm39) C178Y probably damaging Het
Or51a10 C A 7: 103,699,725 (GRCm39) probably benign Het
Or8g21 A T 9: 38,905,816 (GRCm39) I305K possibly damaging Het
Or8k16 A G 2: 85,520,231 (GRCm39) T153A probably benign Het
Pdgfrb T G 18: 61,197,053 (GRCm39) L163R probably damaging Het
Pik3ip1 G T 11: 3,281,945 (GRCm39) R34L possibly damaging Het
Pip4k2b A G 11: 97,615,245 (GRCm39) F205S possibly damaging Het
Pttg1ip A C 10: 77,425,487 (GRCm39) N60T probably benign Het
Rab3ip C T 10: 116,750,066 (GRCm39) E356K probably damaging Het
Rai1 A G 11: 60,076,682 (GRCm39) N249D probably benign Het
Rd3l T C 12: 111,946,753 (GRCm39) K8E probably damaging Het
Rnf32 A G 5: 29,408,058 (GRCm39) K96E probably damaging Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Slc4a1ap A G 5: 31,685,474 (GRCm39) K251E Het
Spink5 T A 18: 44,147,986 (GRCm39) N875K probably damaging Het
Taf6 G T 5: 138,178,160 (GRCm39) A447D probably benign Het
Tbxas1 A T 6: 38,999,989 (GRCm39) I259F probably damaging Het
Tcap G T 11: 98,275,256 (GRCm39) R130L probably damaging Het
Tyms T C 5: 30,266,040 (GRCm39) E293G Het
Vmn1r20 C A 6: 57,408,759 (GRCm39) F28L probably benign Het
Vmn2r120 A T 17: 57,831,864 (GRCm39) D308E Het
Vmn2r69 T A 7: 85,056,177 (GRCm39) I654F possibly damaging Het
Zfp990 G T 4: 145,261,509 (GRCm39) V52L possibly 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
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
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'- TCCCTGAAGAGTCTAAAAGGAGC -3'
(R):5'- AGGTACAGTTGCTGTGAGAGC -3'

Sequencing Primer
(F):5'- TCTAAAAGGAGCATCTTTGAGAGGAC -3'
(R):5'- TGGCTGTCCCAGACACTTAAAGTG -3'
Posted On 2022-01-20