Mutagenetix > Incidental Mutations

Incidental Mutation 'R0136:Col5a1'

21926

Institutional Source

Beutler Lab

Gene Symbol

Col5a1

Ensembl Gene

ENSMUSG00000026837

Gene Name

collagen, type V, alpha 1

Synonyms

MMRRC Submission

038421-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0136 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

27886425-28039514 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 28024831 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 153 (L153P)

Ref Sequence

ENSEMBL: ENSMUSP00000123532 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028280] [ENSMUST00000145423]

Predicted Effect

unknown
Transcript: ENSMUST00000028280
AA Change: L1642P

SMART Domains

Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837
AA Change: L1642P

Domain	Start	End	E-Value	Type
signal peptide	1	36	N/A	INTRINSIC
TSPN	39	230	5.7e-73	SMART
LamG	98	229	6.86e-3	SMART
low complexity region	259	288	N/A	INTRINSIC
low complexity region	300	314	N/A	INTRINSIC
low complexity region	335	352	N/A	INTRINSIC
low complexity region	374	387	N/A	INTRINSIC
low complexity region	412	428	N/A	INTRINSIC
internal_repeat_7	443	457	9.97e-7	PROSPERO
Pfam:Collagen	467	519	4e-10	PFAM
Pfam:Collagen	557	619	6.5e-9	PFAM
internal_repeat_2	622	642	1.83e-11	PROSPERO
low complexity region	643	698	N/A	INTRINSIC
low complexity region	712	757	N/A	INTRINSIC
low complexity region	760	793	N/A	INTRINSIC
internal_repeat_5	794	817	3.78e-8	PROSPERO
internal_repeat_7	798	812	9.97e-7	PROSPERO
internal_repeat_8	802	821	8.84e-6	PROSPERO
low complexity region	826	862	N/A	INTRINSIC
internal_repeat_3	865	889	2.79e-10	PROSPERO
internal_repeat_5	869	892	3.78e-8	PROSPERO
low complexity region	895	925	N/A	INTRINSIC
internal_repeat_2	928	948	1.83e-11	PROSPERO
internal_repeat_4	928	948	1.27e-8	PROSPERO
low complexity region	949	979	N/A	INTRINSIC
low complexity region	984	1033	N/A	INTRINSIC
internal_repeat_4	1039	1062	1.27e-8	PROSPERO
internal_repeat_1	1039	1063	5.12e-15	PROSPERO
internal_repeat_3	1048	1072	2.79e-10	PROSPERO
internal_repeat_6	1049	1072	1.13e-7	PROSPERO
low complexity region	1075	1117	N/A	INTRINSIC
low complexity region	1134	1165	N/A	INTRINSIC
low complexity region	1174	1193	N/A	INTRINSIC
internal_repeat_8	1195	1214	8.84e-6	PROSPERO
low complexity region	1215	1243	N/A	INTRINSIC
low complexity region	1249	1282	N/A	INTRINSIC
low complexity region	1285	1421	N/A	INTRINSIC
internal_repeat_1	1423	1447	5.12e-15	PROSPERO
Pfam:Collagen	1460	1529	8.4e-9	PFAM
Pfam:Collagen	1513	1575	1.2e-9	PFAM
COLFI	1608	1837	3.33e-153	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123129

Predicted Effect

probably damaging
Transcript: ENSMUST00000145423
AA Change: L153P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123532
Gene: ENSMUSG00000026837
AA Change: L153P

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	50	2.7e-10	PFAM
COLFI	119	348	3.33e-153	SMART

Meta Mutation Damage Score

0.6953

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

89% (56/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. The encoded procollagen protein occurs commonly as the heterotrimer pro-alpha1(V)-pro-alpha1(V)-pro-alpha2(V). Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygous mutation of this gene results in lethality around E10-11 due to cardiovascular insufficiency and lack of collagen fibril formation. Heterozygotes exhibit poorly organized and less dense fibers in the dermis and reduced skin tensile strength and are a model for Ehlers-Danlos Syndrome. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap4b1	T	C	3: 103,809,946	M1T	probably null	Het
Arg2	T	C	12: 79,150,006	L167P	probably damaging	Het
Atxn1	A	G	13: 45,567,169	S417P	probably damaging	Het
Baz2b	A	G	2: 59,901,954	V1949A	probably benign	Het
Bcl3	A	G	7: 19,809,569	V324A	probably damaging	Het
Btbd10	A	T	7: 113,329,878	S230T	possibly damaging	Het
Camta1	A	G	4: 151,078,969	S1479P	probably damaging	Het
Cd69	C	T	6: 129,270,062	S64N	probably benign	Het
Crat	C	A	2: 30,407,030	V304L	probably benign	Het
Csmd3	T	C	15: 47,847,131	T1687A	probably benign	Het
Dnah1	C	T	14: 31,276,158	G2574D	probably damaging	Het
Fau	T	C	19: 6,059,180	V86A	possibly damaging	Het
Garem1	T	G	18: 21,129,991	S589R	probably damaging	Het
Gbp3	T	G	3: 142,564,101		probably null	Het
Gin1	T	A	1: 97,783,016	S141R	possibly damaging	Het
Gtf2h1	A	T	7: 46,815,416	Q419L	possibly damaging	Het
Hipk3	A	G	2: 104,439,293	I517T	probably benign	Het
Hivep2	T	C	10: 14,131,878	S1407P	probably benign	Het
Hnrnpk	G	T	13: 58,395,177	D211E	probably benign	Het
Hnrnpul2	T	C	19: 8,826,801	L588P	probably damaging	Het
Il18rap	A	T	1: 40,525,058	H112L	probably benign	Het
Itgb1	T	G	8: 128,722,854	Y585D	possibly damaging	Het
Kmt2d	C	T	15: 98,854,278		probably benign	Het
Map7d1	A	T	4: 126,236,631		probably null	Het
Me2	A	G	18: 73,770,673	S575P	probably benign	Het
Med13l	A	G	5: 118,724,050	T353A	probably benign	Het
Mgat4b	T	C	11: 50,231,081	V143A	possibly damaging	Het
Mlxip	T	A	5: 123,442,306	W211R	probably damaging	Het
Morc2a	T	G	11: 3,685,907		probably null	Het
Muc4	A	T	16: 32,750,195		probably benign	Het
Ndufa10	A	T	1: 92,463,128	Y233*	probably null	Het
Nek8	C	T	11: 78,171,207	S237N	probably benign	Het
Neto1	G	A	18: 86,461,320	R211Q	probably benign	Het
Nfatc2ip	A	G	7: 126,391,335	S165P	probably benign	Het
Nsd2	A	G	5: 33,855,536	K404E	possibly damaging	Het
Nsd3	G	T	8: 25,659,854	E352*	probably null	Het
Nudt9	A	G	5: 104,047,106	T23A	probably benign	Het
Olfr394	T	C	11: 73,887,785	M196V	probably benign	Het
Olfr394	C	T	11: 73,887,830	V181I	probably benign	Het
Olfr983	A	G	9: 40,092,019	*312Q	probably null	Het
Patj	C	A	4: 98,667,648	Q297K	probably damaging	Het
Pelo	A	T	13: 115,088,903	C40*	probably null	Het
Pnpla3	G	A	15: 84,174,478		probably null	Het
Pramel1	C	A	4: 143,397,446	N230K	probably damaging	Het
Psg20	A	C	7: 18,682,507	L228R	probably damaging	Het
Rsph10b	T	C	5: 143,959,821	F44L	probably benign	Het
Sept2	G	A	1: 93,507,050	G358R	possibly damaging	Het
Slamf7	G	A	1: 171,648,931		probably benign	Het
Slc12a8	A	G	16: 33,608,213	D297G	probably damaging	Het
Slc17a5	G	A	9: 78,578,674	A43V	probably damaging	Het
Slc22a1	A	T	17: 12,662,596	F335L	probably benign	Het
Slc26a5	T	C	5: 21,834,347	N216S	probably damaging	Het
Snrnp27	T	C	6: 86,676,205	S144G	probably benign	Het
Spata20	T	A	11: 94,480,609	D643V	probably damaging	Het
Spata24	T	C	18: 35,660,462	K99R	probably damaging	Het
Taar5	A	G	10: 23,971,709	Y335C	probably damaging	Het
Tpr	A	G	1: 150,430,595	H1540R	probably benign	Het
Vmn1r27	A	G	6: 58,215,719	F100S	possibly damaging	Het
Vmn2r37	A	T	7: 9,217,783	Y360*	probably null	Het
Ybx1	C	A	4: 119,282,354	R36L	possibly damaging	Het
Zfp369	A	G	13: 65,297,202	K720E	probably benign	Het
Zfp599	A	G	9: 22,249,742	S376P	probably benign	Het
Zic2	A	G	14: 122,476,541	E289G	probably damaging	Het
Zzef1	T	C	11: 72,821,851	V199A	probably benign	Het

Other mutations in Col5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Col5a1	APN	2	27971444	splice site	probably benign
IGL01340:Col5a1	APN	2	27960451	missense	unknown
IGL01938:Col5a1	APN	2	27996873	missense	unknown
IGL02167:Col5a1	APN	2	28018556	missense	probably benign
IGL02670:Col5a1	APN	2	27974715	missense	unknown
IGL02672:Col5a1	APN	2	27974715	missense	unknown
IGL02673:Col5a1	APN	2	27974715	missense	unknown
IGL02832:Col5a1	APN	2	27952340	missense	unknown
IGL03065:Col5a1	APN	2	28032745	missense	possibly damaging	0.61
IGL03196:Col5a1	APN	2	27975598	missense	unknown
PIT4131001:Col5a1	UTSW	2	28024653	missense	probably benign	0.01
PIT4495001:Col5a1	UTSW	2	28024776	missense	unknown
R0485:Col5a1	UTSW	2	27990097	splice site	probably benign
R0626:Col5a1	UTSW	2	27928243	nonsense	probably null
R0666:Col5a1	UTSW	2	28032685	missense	probably damaging	1.00
R1268:Col5a1	UTSW	2	28002489	missense	unknown
R1302:Col5a1	UTSW	2	28005236	missense	probably damaging	1.00
R1416:Col5a1	UTSW	2	27922064	missense	unknown
R1466:Col5a1	UTSW	2	28003846	splice site	probably benign
R1617:Col5a1	UTSW	2	27952381	missense	unknown
R1650:Col5a1	UTSW	2	27922159	missense	unknown
R1663:Col5a1	UTSW	2	27951476	missense	unknown
R1901:Col5a1	UTSW	2	27960444	missense	unknown
R1970:Col5a1	UTSW	2	27986754	missense	unknown
R2377:Col5a1	UTSW	2	27928177	missense	unknown
R2396:Col5a1	UTSW	2	27986729	missense	unknown
R4297:Col5a1	UTSW	2	28017204	critical splice donor site	probably null
R4385:Col5a1	UTSW	2	28024779	missense	probably damaging	1.00
R4803:Col5a1	UTSW	2	28011341	missense	unknown
R4835:Col5a1	UTSW	2	28025644	missense	probably damaging	1.00
R4935:Col5a1	UTSW	2	28024742	missense	probably damaging	1.00
R4994:Col5a1	UTSW	2	28032739	missense	possibly damaging	0.90
R4997:Col5a1	UTSW	2	28032782	nonsense	probably null
R5061:Col5a1	UTSW	2	27952378	missense	unknown
R5088:Col5a1	UTSW	2	28018602	nonsense	probably null
R5089:Col5a1	UTSW	2	28018602	nonsense	probably null
R5090:Col5a1	UTSW	2	28018602	nonsense	probably null
R5114:Col5a1	UTSW	2	28025652	missense	probably damaging	1.00
R5409:Col5a1	UTSW	2	27960445	missense	unknown
R5649:Col5a1	UTSW	2	27951456	missense	unknown
R5699:Col5a1	UTSW	2	27997599	missense	unknown
R5910:Col5a1	UTSW	2	28036888	missense	possibly damaging	0.89
R6053:Col5a1	UTSW	2	28014377	unclassified	probably benign
R6210:Col5a1	UTSW	2	28032621	missense	probably benign	0.04
R6363:Col5a1	UTSW	2	27928195	missense	unknown
R6478:Col5a1	UTSW	2	27952436	missense	unknown
R6600:Col5a1	UTSW	2	27997571	missense	unknown
R7047:Col5a1	UTSW	2	27928084	missense	unknown
R7061:Col5a1	UTSW	2	28025678	nonsense	probably null
R7131:Col5a1	UTSW	2	27929486	missense	unknown
R7202:Col5a1	UTSW	2	27952378	missense	unknown
R7270:Col5a1	UTSW	2	27997585	missense	unknown
R7385:Col5a1	UTSW	2	28024750	missense	unknown
R7492:Col5a1	UTSW	2	27969800	critical splice donor site	probably null
R7570:Col5a1	UTSW	2	27951383	missense	unknown
R7627:Col5a1	UTSW	2	27950653	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGGGGCAGGGCAATTCTCATC -3'
(R):5'- TGGCTTCTCCCAACACGTCAAC -3'

Sequencing Primer
(F):5'- AGGACTCGGCGGAACATTG -3'
(R):5'- AACCTCCCTCTCTTATGTTTCTGAAG -3'

Posted On

2013-04-12