Mutagenetix > Incidental Mutation

Incidental Mutation 'R7570:Col5a1'

585683

Institutional Source

Beutler Lab

Gene Symbol

Col5a1

Ensembl Gene

ENSMUSG00000026837

Gene Name

collagen, type V, alpha 1

Synonyms

MMRRC Submission

045631-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7570 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27776437-27929526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27841395 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 339 (V339M)

Ref Sequence

ENSEMBL: ENSMUSP00000028280 (fasta)

Gene Model

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

AlphaFold

O88207

Predicted Effect

unknown
Transcript: ENSMUST00000028280
AA Change: V339M

SMART Domains

Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837
AA Change: V339M

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (104/106)

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	C	T	6: 91,911,591 (GRCm39)	T613I	probably benign	Het
Ajuba	T	C	14: 54,813,859 (GRCm39)	E288G	probably damaging	Het
Ankrd12	C	T	17: 66,292,355 (GRCm39)	R1026K	probably benign	Het
Apol7b	T	C	15: 77,307,674 (GRCm39)	T274A	probably benign	Het
Arid4a	A	T	12: 71,109,916 (GRCm39)	R86*	probably null	Het
Asnsd1	C	T	1: 53,387,417 (GRCm39)	G70D	probably damaging	Het
Atg4c	T	A	4: 99,116,797 (GRCm39)	V313D	possibly damaging	Het
Atp13a5	A	C	16: 29,085,715 (GRCm39)	C885G	probably damaging	Het
Bpifb9a	A	T	2: 154,104,183 (GRCm39)	I209F	possibly damaging	Het
Bsn	T	C	9: 107,990,742 (GRCm39)	D1670G	probably damaging	Het
Cct8	T	A	16: 87,288,210 (GRCm39)	I121F	probably benign	Het
Cd209a	T	G	8: 3,794,151 (GRCm39)	D217A	probably damaging	Het
Cdk19	C	T	10: 40,353,954 (GRCm39)	S456L	possibly damaging	Het
Chd9	C	T	8: 91,721,208 (GRCm39)	H999Y	unknown	Het
Cr2	G	A	1: 194,851,648 (GRCm39)	R115*	probably null	Het
Cyb561	A	T	11: 105,828,470 (GRCm39)	F62I	probably damaging	Het
Cyp2c38	A	T	19: 39,393,187 (GRCm39)	N293K	possibly damaging	Het
Cyp2c69	A	T	19: 39,848,342 (GRCm39)	D293E	probably damaging	Het
Dcbld2	T	A	16: 58,244,932 (GRCm39)	C69S	possibly damaging	Het
Dcdc2a	T	C	13: 25,303,356 (GRCm39)	S296P	probably benign	Het
Dmxl1	T	A	18: 50,027,024 (GRCm39)	I2044K	possibly damaging	Het
Dnah5	A	G	15: 28,347,098 (GRCm39)	D2527G	probably damaging	Het
Dnah6	T	C	6: 73,126,413 (GRCm39)	T1305A	probably benign	Het
Dnajc9	A	G	14: 20,438,712 (GRCm39)	V47A	probably benign	Het
Dnmt3b	A	G	2: 153,518,619 (GRCm39)	Y594C	probably damaging	Het
Dph7	A	G	2: 24,855,642 (GRCm39)	D147G	probably damaging	Het
Drap1	T	C	19: 5,473,380 (GRCm39)	H164R	possibly damaging	Het
Dsg3	T	A	18: 20,660,837 (GRCm39)	V392E	possibly damaging	Het
Dxo	A	G	17: 35,056,616 (GRCm39)	D81G	probably benign	Het
E230025N22Rik	G	T	18: 36,828,645 (GRCm39)	T11K	probably benign	Het
Esyt1	A	G	10: 128,354,801 (GRCm39)	V533A	possibly damaging	Het
Etv3	T	A	3: 87,443,338 (GRCm39)	C307*	probably null	Het
Fam114a1	T	A	5: 65,187,402 (GRCm39)		probably null	Het
Fam3c	T	A	6: 22,326,404 (GRCm39)		probably benign	Het
Fbn1	G	T	2: 125,239,772 (GRCm39)	T305K	probably benign	Het
Ggt1	A	T	10: 75,421,428 (GRCm39)	I484F	probably damaging	Het
Gpatch1	T	C	7: 34,993,237 (GRCm39)	D536G	probably damaging	Het
Gpx4	T	C	10: 79,890,875 (GRCm39)	I189T	probably damaging	Het
Gsr	T	A	8: 34,159,193 (GRCm39)	C85S	probably damaging	Het
Gsta5	A	T	9: 78,211,751 (GRCm39)	D171V	possibly damaging	Het
Havcr1	T	A	11: 46,661,369 (GRCm39)		probably null	Het
Heatr4	T	C	12: 84,026,418 (GRCm39)	T280A	probably benign	Het
Hmcn2	A	T	2: 31,313,923 (GRCm39)	E3532D	probably benign	Het
Hnrnpc	T	C	14: 52,312,556 (GRCm39)	N308S	possibly damaging	Het
Ighv8-9	A	G	12: 115,432,358 (GRCm39)	V13A	probably benign	Het
Itgb2l	A	T	16: 96,227,439 (GRCm39)	F535I	probably benign	Het
Kdm5a	T	G	6: 120,404,803 (GRCm39)	D1348E	probably damaging	Het
Kndc1	CT	C	7: 139,503,691 (GRCm39)		probably null	Het
Ky	A	G	9: 102,419,528 (GRCm39)	I512V	probably benign	Het
Lamc1	A	T	1: 153,119,021 (GRCm39)	F866Y	possibly damaging	Het
Lbx1	C	A	19: 45,223,687 (GRCm39)		probably benign	Het
Magel2	A	G	7: 62,028,658 (GRCm39)	T521A	possibly damaging	Het
Mgam	A	T	6: 40,723,367 (GRCm39)	I491L	probably benign	Het
Mitd1	T	C	1: 37,929,273 (GRCm39)	E40G	probably damaging	Het
Mpzl3	A	G	9: 44,981,985 (GRCm39)	T218A	probably benign	Het
Mrpl42	A	G	10: 95,316,827 (GRCm39)	S77P	probably benign	Het
Mup5	C	T	4: 61,752,911 (GRCm39)	W37*	probably null	Het
Myh14	T	C	7: 44,281,850 (GRCm39)	I803V	probably benign	Het
Ncor2	T	A	5: 125,107,153 (GRCm39)	T744S		Het
Ndufv3	A	G	17: 31,746,596 (GRCm39)	D162G	probably damaging	Het
Nostrin	A	G	2: 69,006,150 (GRCm39)	E278G	probably damaging	Het
Nrxn1	T	G	17: 90,469,807 (GRCm39)	E1288A	probably benign	Het
Or4c11c	A	G	2: 88,661,472 (GRCm39)	N4D	possibly damaging	Het
Or51b6b	C	A	7: 103,310,088 (GRCm39)	R123L	probably damaging	Het
Or52h1	T	A	7: 103,828,955 (GRCm39)	Y220F	probably damaging	Het
Or8g55	A	T	9: 39,784,751 (GRCm39)	Y60F	possibly damaging	Het
Patj	T	A	4: 98,312,737 (GRCm39)		probably null	Het
Pcm1	T	G	8: 41,720,381 (GRCm39)	I314R	possibly damaging	Het
Pcsk6	A	G	7: 65,683,646 (GRCm39)	T754A	probably benign	Het
Pde2a	A	T	7: 101,152,041 (GRCm39)	N326I	probably benign	Het
Plekhg4	T	C	8: 106,105,316 (GRCm39)	S594P	possibly damaging	Het
Plekhm3	T	C	1: 64,977,065 (GRCm39)	D135G	probably damaging	Het
Plin4	A	T	17: 56,413,776 (GRCm39)	M283K	probably benign	Het
Ppfia3	T	C	7: 44,990,172 (GRCm39)		probably null	Het
Prdm9	T	C	17: 15,775,914 (GRCm39)	N179S	probably benign	Het
Prrt3	T	C	6: 113,471,449 (GRCm39)	S908G	probably damaging	Het
Psg22	C	A	7: 18,456,660 (GRCm39)	S181Y	possibly damaging	Het
Rcor3	C	A	1: 191,822,173 (GRCm39)	G8V	probably damaging	Het
Rp1l1	T	A	14: 64,269,023 (GRCm39)	C1536*	probably null	Het
Rpp25l	T	C	4: 41,712,529 (GRCm39)	H82R	probably damaging	Het
Rps3a1	T	A	3: 86,046,396 (GRCm39)	M172L	probably benign	Het
Rtbdn	T	C	8: 85,679,556 (GRCm39)	L110P	probably damaging	Het
Ryr1	T	A	7: 28,778,010 (GRCm39)	Q2169L	probably damaging	Het
Scn4a	A	T	11: 106,211,299 (GRCm39)	C1573S	possibly damaging	Het
Sec16b	A	T	1: 157,358,965 (GRCm39)		probably null	Het
Serpina1a	A	T	12: 103,820,096 (GRCm39)	D383E	possibly damaging	Het
Sh3gl3	T	C	7: 81,934,285 (GRCm39)	M262T	probably benign	Het
Sos2	G	A	12: 69,637,654 (GRCm39)	T1052M	probably damaging	Het
Spag16	G	A	1: 70,036,000 (GRCm39)	V343I	probably benign	Het
Spocd1	T	G	4: 129,823,957 (GRCm39)	D251E		Het
Stc2	G	T	11: 31,317,798 (GRCm39)	N74K	probably damaging	Het
Tasor2	A	G	13: 3,623,621 (GRCm39)	Y2110H	probably damaging	Het
Thbs3	C	T	3: 89,126,359 (GRCm39)	Q227*	probably null	Het
Tmem92	A	C	11: 94,669,816 (GRCm39)	I105R	probably benign	Het
Tmod1	T	A	4: 46,083,632 (GRCm39)	N20K	probably benign	Het
Tns1	T	C	1: 73,992,638 (GRCm39)	D53G	probably damaging	Het
Tspan33	T	A	6: 29,717,337 (GRCm39)	L246Q	probably damaging	Het
Ttc16	A	G	2: 32,658,980 (GRCm39)	L392P	probably damaging	Het
Uggt1	T	A	1: 36,224,919 (GRCm39)	T572S	probably benign	Het
Usp17la	A	T	7: 104,509,604 (GRCm39)	T70S	probably damaging	Het
Usp31	C	T	7: 121,274,186 (GRCm39)	R370H	probably damaging	Het
Wdr83	C	T	8: 85,806,463 (GRCm39)	V112M	probably damaging	Het
Zbtb25	T	A	12: 76,416,366 (GRCm39)		probably benign	Het
Zfp110	T	A	7: 12,583,267 (GRCm39)	N638K	possibly damaging	Het
Zfp747l1	T	A	7: 126,984,455 (GRCm39)	S216C	probably benign	Het
Zfp820	T	C	17: 22,037,994 (GRCm39)	T445A	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
R0485:Col5a1	UTSW	2	27,880,109 (GRCm39)	splice site	probably benign
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
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'- CTGATGTGCTAGGAGGATGC -3'
(R):5'- TCAACCCTGCTACTGAGGAC -3'

Sequencing Primer
(F):5'- CTAGGAGGATGCTGGCTTG -3'
(R):5'- TTCGTGCTCAGCAGTGAC -3'

Posted On

2019-10-17