Mutagenetix > Incidental Mutation

Incidental Mutation 'R0485:Col5a1'

42175

Institutional Source

Beutler Lab

Gene Symbol

Col5a1

Ensembl Gene

ENSMUSG00000026837

Gene Name

collagen, type V, alpha 1

Synonyms

MMRRC Submission

038684-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0485 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27776437-27929526 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 27880109 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000028280 (fasta)

Gene Model

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

AlphaFold

O88207

Predicted Effect

probably benign
Transcript: ENSMUST00000028280

SMART Domains

Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

100% (95/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	A	G	16: 3,725,511 (GRCm39)	V5A	probably damaging	Het
Abi3bp	A	G	16: 56,424,375 (GRCm39)		probably null	Het
Acot11	G	A	4: 106,619,224 (GRCm39)	R184C	probably damaging	Het
Adgre5	A	T	8: 84,458,627 (GRCm39)	I133N	probably damaging	Het
Afap1	A	T	5: 36,108,347 (GRCm39)	Q231L	probably damaging	Het
Alg12	T	C	15: 88,695,630 (GRCm39)	T289A	probably benign	Het
Ank3	T	A	10: 69,718,374 (GRCm39)	S542T	possibly damaging	Het
Ankmy2	G	A	12: 36,232,389 (GRCm39)	R138Q	possibly damaging	Het
Ascc2	C	T	11: 4,622,302 (GRCm39)	A456V	probably benign	Het
Atg4c	G	A	4: 99,112,719 (GRCm39)	V289I	probably benign	Het
Bbs7	A	T	3: 36,657,022 (GRCm39)	Y269N	probably damaging	Het
Bcas3	T	A	11: 85,386,676 (GRCm39)	D370E	probably damaging	Het
Bicc1	T	G	10: 70,761,145 (GRCm39)	E955A	probably damaging	Het
Bok	T	C	1: 93,616,999 (GRCm39)	F115S	probably damaging	Het
Caap1	A	T	4: 94,438,758 (GRCm39)		probably null	Het
Cacna2d3	T	A	14: 29,256,476 (GRCm39)	M95L	possibly damaging	Het
Calcrl	T	A	2: 84,200,435 (GRCm39)	D115V	probably benign	Het
Car7	A	T	8: 105,270,170 (GRCm39)	M57L	probably benign	Het
Casq1	G	T	1: 172,037,957 (GRCm39)		probably benign	Het
Cep290	A	T	10: 100,385,206 (GRCm39)	D1894V	possibly damaging	Het
Clec4a2	T	A	6: 123,100,588 (GRCm39)	N14K	probably damaging	Het
Col16a1	G	T	4: 129,984,290 (GRCm39)		probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col5a3	T	C	9: 20,694,004 (GRCm39)	T1050A	probably damaging	Het
Colgalt2	A	T	1: 152,360,622 (GRCm39)	I220F	probably damaging	Het
Cpb1	A	T	3: 20,329,792 (GRCm39)	V8E	unknown	Het
Dchs1	C	T	7: 105,421,934 (GRCm39)	R162H	probably benign	Het
Dhx37	A	G	5: 125,499,295 (GRCm39)	Y638H	probably benign	Het
Dhx40	T	G	11: 86,662,088 (GRCm39)		probably benign	Het
Ehd2	T	A	7: 15,686,001 (GRCm39)	Q357L	probably benign	Het
Ewsr1	T	C	11: 5,020,737 (GRCm39)		probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gid8	T	A	2: 180,355,004 (GRCm39)	Y3*	probably null	Het
Gm10212	A	C	19: 11,548,174 (GRCm39)		noncoding transcript	Het
Grin3b	T	A	10: 79,809,890 (GRCm39)	N465K	possibly damaging	Het
H1f3	A	T	13: 23,739,924 (GRCm39)	K221*	probably null	Het
Htr4	A	T	18: 62,561,225 (GRCm39)	N162I	probably damaging	Het
Irag2	T	C	6: 145,110,938 (GRCm39)	C248R	probably damaging	Het
Itga3	T	C	11: 94,952,796 (GRCm39)	D325G	probably benign	Het
Itpr3	T	G	17: 27,330,903 (GRCm39)	V1737G	probably damaging	Het
Kcnab2	C	T	4: 152,479,439 (GRCm39)	V251I	probably benign	Het
Kcnn2	A	T	18: 45,693,215 (GRCm39)	I264L	probably benign	Het
Klhl41	T	C	2: 69,501,600 (GRCm39)	Y354H	probably damaging	Het
Klra6	T	C	6: 130,000,601 (GRCm39)	I68V	probably benign	Het
Letm2	G	T	8: 26,082,574 (GRCm39)	P178Q	probably damaging	Het
Lypd11	C	A	7: 24,422,170 (GRCm39)	C193F	possibly damaging	Het
Mbtps1	A	T	8: 120,249,340 (GRCm39)		probably benign	Het
Mecom	C	T	3: 30,035,121 (GRCm39)		probably benign	Het
Mrps5	T	A	2: 127,433,745 (GRCm39)	S45T	possibly damaging	Het
Msra	T	A	14: 64,678,210 (GRCm39)	I29F	possibly damaging	Het
Mup5	T	C	4: 61,751,229 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,555,111 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,443 (GRCm39)	N564K	probably benign	Het
Naa20	T	A	2: 145,757,592 (GRCm39)	D148E	probably damaging	Het
Naga	T	G	15: 82,220,956 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,346,503 (GRCm39)	V231A	probably benign	Het
Nphs1	T	C	7: 30,166,940 (GRCm39)	F716L	probably benign	Het
Or8s5	T	C	15: 98,238,810 (GRCm39)	H20R	probably benign	Het
Parn	G	C	16: 13,472,299 (GRCm39)		probably benign	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Prkar2b	A	G	12: 32,026,034 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,651,604 (GRCm39)	E3747G	probably damaging	Het
Prmt5	A	T	14: 54,748,712 (GRCm39)	M362K	probably damaging	Het
Prob1	T	C	18: 35,786,878 (GRCm39)	T459A	possibly damaging	Het
Rttn	C	T	18: 89,108,543 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,104,269 (GRCm39)	M1664V	probably damaging	Het
Sez6	T	A	11: 77,844,639 (GRCm39)	L154H	probably damaging	Het
Sh3tc1	A	G	5: 35,859,356 (GRCm39)		probably benign	Het
Shkbp1	C	T	7: 27,048,006 (GRCm39)	G334D	probably damaging	Het
Slc8a1	A	T	17: 81,955,422 (GRCm39)	F539I	probably damaging	Het
Spata31e5	G	T	1: 28,817,223 (GRCm39)	Q270K	probably damaging	Het
Sptan1	T	C	2: 29,903,860 (GRCm39)		probably benign	Het
Ssc5d	C	T	7: 4,940,470 (GRCm39)	T861M	probably damaging	Het
Tbx5	A	T	5: 120,021,523 (GRCm39)	M510L	probably benign	Het
Tdp1	A	G	12: 99,876,101 (GRCm39)	T351A	probably benign	Het
Tmc8	T	A	11: 117,682,904 (GRCm39)		probably benign	Het
Tmco5	T	A	2: 116,720,588 (GRCm39)	D205E	probably benign	Het
Tmprss2	T	C	16: 97,373,194 (GRCm39)		probably benign	Het
Top6bl	A	T	19: 4,708,442 (GRCm39)	I350N	probably damaging	Het
Tph1	T	A	7: 46,299,448 (GRCm39)	K364N	probably benign	Het
Trim24	T	C	6: 37,934,001 (GRCm39)	L648P	probably damaging	Het
Trmt6	C	A	2: 132,650,950 (GRCm39)		probably benign	Het
Ube2i	A	T	17: 25,488,259 (GRCm39)		probably benign	Het
Vcan	A	C	13: 89,852,779 (GRCm39)	L727R	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,689 (GRCm39)	Y186C	probably damaging	Het
Wars1	C	A	12: 108,841,083 (GRCm39)	D232Y	probably damaging	Het
Xrcc5	T	C	1: 72,378,104 (GRCm39)		probably benign	Het
Zbtb24	T	A	10: 41,340,532 (GRCm39)	S543T	probably damaging	Het
Zfp91	A	G	19: 12,753,353 (GRCm39)		probably benign	Het

Other mutations in Col5a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01291:Col5a1	APN	2	27,861,456 (GRCm39)	splice site	probably benign
IGL01340:Col5a1	APN	2	27,850,463 (GRCm39)	missense	unknown
IGL01938:Col5a1	APN	2	27,886,885 (GRCm39)	missense	unknown
IGL02167:Col5a1	APN	2	27,908,568 (GRCm39)	missense	probably benign
IGL02670:Col5a1	APN	2	27,864,727 (GRCm39)	missense	unknown
IGL02672:Col5a1	APN	2	27,864,727 (GRCm39)	missense	unknown
IGL02673:Col5a1	APN	2	27,864,727 (GRCm39)	missense	unknown
IGL02832:Col5a1	APN	2	27,842,352 (GRCm39)	missense	unknown
IGL03065:Col5a1	APN	2	27,922,757 (GRCm39)	missense	possibly damaging	0.61
IGL03196:Col5a1	APN	2	27,865,610 (GRCm39)	missense	unknown
PIT4131001:Col5a1	UTSW	2	27,914,665 (GRCm39)	missense	probably benign	0.01
PIT4495001:Col5a1	UTSW	2	27,914,788 (GRCm39)	missense	unknown
R0136:Col5a1	UTSW	2	27,914,843 (GRCm39)	missense	probably damaging	1.00
R0626:Col5a1	UTSW	2	27,818,255 (GRCm39)	nonsense	probably null
R0666:Col5a1	UTSW	2	27,922,697 (GRCm39)	missense	probably damaging	1.00
R1268:Col5a1	UTSW	2	27,892,501 (GRCm39)	missense	unknown
R1302:Col5a1	UTSW	2	27,895,248 (GRCm39)	missense	probably damaging	1.00
R1416:Col5a1	UTSW	2	27,812,076 (GRCm39)	missense	unknown
R1466:Col5a1	UTSW	2	27,893,858 (GRCm39)	splice site	probably benign
R1617:Col5a1	UTSW	2	27,842,393 (GRCm39)	missense	unknown
R1650:Col5a1	UTSW	2	27,812,171 (GRCm39)	missense	unknown
R1663:Col5a1	UTSW	2	27,841,488 (GRCm39)	missense	unknown
R1901:Col5a1	UTSW	2	27,850,456 (GRCm39)	missense	unknown
R1970:Col5a1	UTSW	2	27,876,766 (GRCm39)	missense	unknown
R2377:Col5a1	UTSW	2	27,818,189 (GRCm39)	missense	unknown
R2396:Col5a1	UTSW	2	27,876,741 (GRCm39)	missense	unknown
R4297:Col5a1	UTSW	2	27,907,216 (GRCm39)	critical splice donor site	probably null
R4385:Col5a1	UTSW	2	27,914,791 (GRCm39)	missense	probably damaging	1.00
R4803:Col5a1	UTSW	2	27,901,353 (GRCm39)	missense	unknown
R4835:Col5a1	UTSW	2	27,915,656 (GRCm39)	missense	probably damaging	1.00
R4935:Col5a1	UTSW	2	27,914,754 (GRCm39)	missense	probably damaging	1.00
R4994:Col5a1	UTSW	2	27,922,751 (GRCm39)	missense	possibly damaging	0.90
R4997:Col5a1	UTSW	2	27,922,794 (GRCm39)	nonsense	probably null
R5061:Col5a1	UTSW	2	27,842,390 (GRCm39)	missense	unknown
R5088:Col5a1	UTSW	2	27,908,614 (GRCm39)	nonsense	probably null
R5089:Col5a1	UTSW	2	27,908,614 (GRCm39)	nonsense	probably null
R5090:Col5a1	UTSW	2	27,908,614 (GRCm39)	nonsense	probably null
R5114:Col5a1	UTSW	2	27,915,664 (GRCm39)	missense	probably damaging	1.00
R5409:Col5a1	UTSW	2	27,850,457 (GRCm39)	missense	unknown
R5649:Col5a1	UTSW	2	27,841,468 (GRCm39)	missense	unknown
R5699:Col5a1	UTSW	2	27,887,611 (GRCm39)	missense	unknown
R5910:Col5a1	UTSW	2	27,926,900 (GRCm39)	missense	possibly damaging	0.89
R6053:Col5a1	UTSW	2	27,904,389 (GRCm39)	unclassified	probably benign
R6210:Col5a1	UTSW	2	27,922,633 (GRCm39)	missense	probably benign	0.04
R6363:Col5a1	UTSW	2	27,818,207 (GRCm39)	missense	unknown
R6478:Col5a1	UTSW	2	27,842,448 (GRCm39)	missense	unknown
R6600:Col5a1	UTSW	2	27,887,583 (GRCm39)	missense	unknown
R7047:Col5a1	UTSW	2	27,818,096 (GRCm39)	missense	unknown
R7061:Col5a1	UTSW	2	27,915,690 (GRCm39)	nonsense	probably null
R7131:Col5a1	UTSW	2	27,819,498 (GRCm39)	missense	unknown
R7202:Col5a1	UTSW	2	27,842,390 (GRCm39)	missense	unknown
R7270:Col5a1	UTSW	2	27,887,597 (GRCm39)	missense	unknown
R7385:Col5a1	UTSW	2	27,914,762 (GRCm39)	missense	unknown
R7492:Col5a1	UTSW	2	27,859,812 (GRCm39)	critical splice donor site	probably null
R7570:Col5a1	UTSW	2	27,841,395 (GRCm39)	missense	unknown
R7627:Col5a1	UTSW	2	27,840,665 (GRCm39)	nonsense	probably null
R8003:Col5a1	UTSW	2	27,848,340 (GRCm39)	intron	probably benign
R8011:Col5a1	UTSW	2	27,870,533 (GRCm39)	splice site	probably benign
R8073:Col5a1	UTSW	2	27,852,141 (GRCm39)	missense	possibly damaging	0.85
R8217:Col5a1	UTSW	2	27,812,135 (GRCm39)	missense	unknown
R8879:Col5a1	UTSW	2	27,904,170 (GRCm39)	missense	unknown
R8911:Col5a1	UTSW	2	27,887,630 (GRCm39)	critical splice donor site	probably null
R9082:Col5a1	UTSW	2	27,852,122 (GRCm39)	missense	possibly damaging	0.73
R9095:Col5a1	UTSW	2	27,914,665 (GRCm39)	missense	probably benign	0.01
R9170:Col5a1	UTSW	2	27,841,363 (GRCm39)	missense	unknown
R9264:Col5a1	UTSW	2	27,854,123 (GRCm39)	missense	unknown
R9265:Col5a1	UTSW	2	27,854,123 (GRCm39)	missense	unknown
R9461:Col5a1	UTSW	2	27,922,616 (GRCm39)	missense	unknown
R9596:Col5a1	UTSW	2	27,819,551 (GRCm39)	nonsense	probably null
R9614:Col5a1	UTSW	2	27,879,186 (GRCm39)	missense	unknown
R9691:Col5a1	UTSW	2	27,842,994 (GRCm39)	missense	unknown
R9743:Col5a1	UTSW	2	27,864,505 (GRCm39)	missense	unknown
Z1176:Col5a1	UTSW	2	27,892,529 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACTCAAGGAGTGGTTAAGCCTCCC -3'
(R):5'- GCCCTCTTCTCTGAAAGGCTCAAC -3'

Sequencing Primer
(F):5'- atggtgcTTGTTTGGATTTCCAC -3'
(R):5'- CTGAAAGGCTCAACTCATTGTGC -3'

Posted On

2013-05-23