Mutagenetix > Incidental Mutation

Incidental Mutation 'R2349:Col15a1'

247385

Institutional Source

Beutler Lab

Gene Symbol

Col15a1

Ensembl Gene

ENSMUSG00000028339

Gene Name

collagen, type XV, alpha 1

Synonyms

MMRRC Submission

040331-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2349 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47208161-47313167 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 47306742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 289 (M289I)

Ref Sequence

ENSEMBL: ENSMUSP00000103359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082303] [ENSMUST00000102917] [ENSMUST00000107730] [ENSMUST00000107731]

AlphaFold

O35206

Predicted Effect

possibly damaging
Transcript: ENSMUST00000082303
AA Change: M1101I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080921
Gene: ENSMUSG00000028339
AA Change: M1101I

Domain	Start	End	E-Value	Type
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: M1123I

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099981
Gene: ENSMUSG00000028339
AA Change: M1123I

Domain	Start	End	E-Value	Type
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: ENSMUST00000107730
AA Change: M34I

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103358
Gene: ENSMUSG00000028339
AA Change: M34I

Domain	Start	End	E-Value	Type
Pfam:Endostatin	20	100	8.7e-16	PFAM
Pfam:Endostatin	83	278	5.7e-99	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107731
AA Change: M289I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103359
Gene: ENSMUSG00000028339
AA Change: M289I

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.4990

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (34/34)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,105,415 (GRCm39)	K77E	probably damaging	Het
Arfgef2	T	A	2: 166,693,948 (GRCm39)	I507N	probably damaging	Het
Atg16l2	T	C	7: 100,945,746 (GRCm39)	K231E	probably damaging	Het
C1s1	C	A	6: 124,518,432 (GRCm39)		probably benign	Het
Cdh15	G	A	8: 123,583,374 (GRCm39)	R59H	probably benign	Het
Cntrl	A	G	2: 35,066,263 (GRCm39)	T1739A	probably benign	Het
Crebbp	G	A	16: 3,956,774 (GRCm39)	R350C	probably damaging	Het
Dbx2	A	G	15: 95,522,840 (GRCm39)	V289A	probably benign	Het
Esam	A	C	9: 37,439,527 (GRCm39)	Q4P	probably benign	Het
Galnt1	A	G	18: 24,413,085 (GRCm39)	M462V	probably benign	Het
Got1l1	T	C	8: 27,687,959 (GRCm39)	T357A	probably benign	Het
Gpr182	T	A	10: 127,586,806 (GRCm39)	K48N	probably damaging	Het
Hdlbp	A	G	1: 93,349,956 (GRCm39)		probably benign	Het
Ifi209	G	A	1: 173,470,122 (GRCm39)	V237M	probably damaging	Het
Igf2r	A	T	17: 12,941,198 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,279 (GRCm39)	M2520T	probably benign	Het
Krt222	A	G	11: 99,129,591 (GRCm39)		probably benign	Het
Nkx2-9	A	G	12: 56,659,007 (GRCm39)	L69P	probably benign	Het
Papss1	A	G	3: 131,305,627 (GRCm39)	D203G	probably benign	Het
Pex13	A	G	11: 23,605,789 (GRCm39)	M147T	probably damaging	Het
Pkd1l1	A	T	11: 8,776,819 (GRCm39)		probably null	Het
Rac2	A	G	15: 78,449,675 (GRCm39)	V85A	possibly damaging	Het
Rock2	A	G	12: 17,027,616 (GRCm39)	N127S	probably benign	Het
Sfswap	C	T	5: 129,646,802 (GRCm39)	R875C	possibly damaging	Het
Slco5a1	C	T	1: 12,991,376 (GRCm39)	V438M	probably damaging	Het
Thsd4	A	G	9: 59,879,798 (GRCm39)	Y620H	probably benign	Het
Trip4	T	C	9: 65,773,844 (GRCm39)	D246G	probably benign	Het
Usp10	T	C	8: 120,683,448 (GRCm39)	*88R	probably null	Het
Vars1	A	G	17: 35,234,728 (GRCm39)	I1186V	probably benign	Het
Vps13c	A	G	9: 67,864,808 (GRCm39)	D3039G	possibly damaging	Het
Wwp1	A	T	4: 19,638,644 (GRCm39)	N566K	possibly damaging	Het
Xpo6	A	T	7: 125,712,875 (GRCm39)	V701E	probably benign	Het

Other mutations in Col15a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- ACCTCAATGGACTCTGGAGAAG -3'
(R):5'- TTCTCCCAACTGCAAGAGAAG -3'

Sequencing Primer
(F):5'- CTGGAGAAGAGATTGAATGCGTATTC -3'
(R):5'- GCCAATGAAAGGGCTCGTAAG -3'

Posted On

2014-11-11