Mutagenetix > Incidental Mutation

Incidental Mutation 'R0626:Col5a1'

57461

Institutional Source

Beutler Lab

Gene Symbol

Col5a1

Ensembl Gene

ENSMUSG00000026837

Gene Name

collagen, type V, alpha 1

Synonyms

MMRRC Submission

038815-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0626 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27776437-27929526 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 27818255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 160 (L160*)

Ref Sequence

ENSEMBL: ENSMUSP00000028280 (fasta)

Gene Model

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

AlphaFold

O88207

Predicted Effect

probably null
Transcript: ENSMUST00000028280
AA Change: L160*

SMART Domains

Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837
AA Change: L160*

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: 99.4%
3x: 99.0%
10x: 97.9%
20x: 96.2%

Validation Efficiency

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	T	C	11: 109,679,547 (GRCm39)		probably benign	Het
6430571L13Rik	T	A	9: 107,219,707 (GRCm39)	D53E	possibly damaging	Het
A2ml1	T	A	6: 128,527,736 (GRCm39)	N1018I	probably damaging	Het
Abi3	C	A	11: 95,727,937 (GRCm39)	A85S	probably benign	Het
Acsl5	A	T	19: 55,272,904 (GRCm39)	M340L	probably benign	Het
Adam29	T	A	8: 56,324,612 (GRCm39)	H614L	probably benign	Het
Adgrg6	A	T	10: 14,312,628 (GRCm39)	S720T	probably damaging	Het
Adrb2	G	T	18: 62,312,441 (GRCm39)	A128E	probably damaging	Het
Afap1l1	T	C	18: 61,872,291 (GRCm39)	E510G	probably benign	Het
Angel1	A	G	12: 86,764,487 (GRCm39)		probably null	Het
Aox3	T	G	1: 58,211,458 (GRCm39)	I1005S	possibly damaging	Het
Apc	C	A	18: 34,451,507 (GRCm39)	P2767Q	probably damaging	Het
Apob	T	G	12: 8,066,193 (GRCm39)	D4387E	probably benign	Het
Apobr	T	C	7: 126,185,827 (GRCm39)	V446A	possibly damaging	Het
Arhgap28	A	T	17: 68,203,108 (GRCm39)		probably null	Het
Aspm	G	T	1: 139,419,339 (GRCm39)	K3001N	probably damaging	Het
Asxl3	G	T	18: 22,655,937 (GRCm39)	V1316F	probably benign	Het
Atp2a1	T	A	7: 126,046,162 (GRCm39)		probably null	Het
Bach1	A	G	16: 87,526,359 (GRCm39)	D607G	possibly damaging	Het
Batf3	A	G	1: 190,832,935 (GRCm39)	D27G	probably damaging	Het
Baz1a	G	T	12: 55,022,055 (GRCm39)	Q76K	probably damaging	Het
Bdnf	G	A	2: 109,553,883 (GRCm39)	V86M	probably benign	Het
Birc7	A	G	2: 180,573,098 (GRCm39)	I172V	probably benign	Het
Bod1l	A	C	5: 41,988,880 (GRCm39)	V409G	probably damaging	Het
Cacna1e	T	A	1: 154,364,563 (GRCm39)	E337V	probably damaging	Het
Cacna1h	A	G	17: 25,612,520 (GRCm39)	F287L	possibly damaging	Het
Ces1e	A	G	8: 93,950,671 (GRCm39)	Y37H	probably benign	Het
Clasrp	A	T	7: 19,318,418 (GRCm39)		probably benign	Het
Clec2d	T	A	6: 129,160,090 (GRCm39)	S35T	probably damaging	Het
Cntn4	T	A	6: 106,639,539 (GRCm39)	D556E	probably benign	Het
Cntnap5c	A	T	17: 58,349,422 (GRCm39)	D245V	probably benign	Het
Col6a6	T	C	9: 105,654,943 (GRCm39)	E926G	probably benign	Het
Cpsf2	T	A	12: 101,951,490 (GRCm39)	H142Q	probably benign	Het
Cr2	A	C	1: 194,853,419 (GRCm39)	S20A	possibly damaging	Het
Ct45a	G	A	X: 55,590,399 (GRCm39)	P134L	probably benign	Het
Cyp2j5	A	T	4: 96,547,749 (GRCm39)	H164Q	probably benign	Het
D430041D05Rik	G	C	2: 103,998,295 (GRCm39)	P1836R	probably damaging	Het
Dmbt1	G	A	7: 130,703,811 (GRCm39)	V1124M	probably damaging	Het
Dmxl2	T	C	9: 54,323,838 (GRCm39)	H1182R	probably damaging	Het
Dnah2	A	T	11: 69,368,509 (GRCm39)	S1709T	probably benign	Het
Dop1b	T	C	16: 93,560,844 (GRCm39)	V776A	probably damaging	Het
Emc3	T	C	6: 113,492,992 (GRCm39)	T220A	probably benign	Het
Entpd1	A	C	19: 40,715,769 (GRCm39)	N312T	probably benign	Het
Fam8a1	A	T	13: 46,824,699 (GRCm39)	I229F	probably damaging	Het
Fancc	G	A	13: 63,465,205 (GRCm39)	P501S	probably damaging	Het
Fasn	T	C	11: 120,702,751 (GRCm39)	R1704G	probably damaging	Het
Fsip2	A	G	2: 82,819,302 (GRCm39)	I5012V	probably benign	Het
Glce	T	C	9: 61,968,282 (GRCm39)	T290A	probably benign	Het
Gns	G	A	10: 121,219,349 (GRCm39)		probably null	Het
Gsdma2	A	G	11: 98,542,810 (GRCm39)	N190S	probably damaging	Het
Hectd4	T	A	5: 121,415,887 (GRCm39)	S563T	probably benign	Het
Hmcn1	T	C	1: 150,674,470 (GRCm39)		probably null	Het
Jup	A	T	11: 100,267,589 (GRCm39)	M578K	probably benign	Het
Kir3dl1	G	A	X: 135,434,594 (GRCm39)		probably null	Het
Krt75	A	G	15: 101,482,025 (GRCm39)	F81S	probably benign	Het
Lrp1	G	T	10: 127,403,233 (GRCm39)	D2113E	probably damaging	Het
Maged2	T	A	X: 149,594,830 (GRCm39)	N176Y	probably damaging	Het
Mrc1	T	A	2: 14,333,382 (GRCm39)	C1354*	probably null	Het
Mup7	A	C	4: 60,069,742 (GRCm39)	V74G	possibly damaging	Het
Naca	A	G	10: 127,877,031 (GRCm39)		probably benign	Het
Nav3	T	G	10: 109,659,325 (GRCm39)	Y764S	probably damaging	Het
Nkpd1	A	T	7: 19,257,099 (GRCm39)	T293S	probably benign	Het
Numb	A	G	12: 83,842,614 (GRCm39)	Y510H	probably damaging	Het
Nynrin	T	G	14: 56,105,492 (GRCm39)	L834R	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or2ak5	G	T	11: 58,611,347 (GRCm39)	H176N	probably benign	Het
Or8g18	T	A	9: 39,149,162 (GRCm39)	N186I	possibly damaging	Het
Otog	T	C	7: 45,920,797 (GRCm39)	V1000A	possibly damaging	Het
Pafah1b3	A	G	7: 24,996,554 (GRCm39)	V43A	possibly damaging	Het
Pcnx1	A	G	12: 82,030,450 (GRCm39)	Y1775C	possibly damaging	Het
Phka1	G	A	X: 101,564,437 (GRCm39)	R1074C	probably damaging	Het
Pi4ka	T	A	16: 17,111,765 (GRCm39)	Y1570F	probably benign	Het
Piezo2	T	C	18: 63,152,329 (GRCm39)	K2588E	probably damaging	Het
Pkd1	A	G	17: 24,794,549 (GRCm39)	T2079A	probably damaging	Het
Plekhd1	G	T	12: 80,764,075 (GRCm39)	Q212H	probably damaging	Het
Plekhh1	C	T	12: 79,087,359 (GRCm39)	R16*	probably null	Het
Polm	C	A	11: 5,786,207 (GRCm39)	R120L	probably damaging	Het
Ptpn22	T	C	3: 103,767,721 (GRCm39)	M1T	probably null	Het
Ptprh	G	A	7: 4,567,271 (GRCm39)	L534F	probably benign	Het
Rabl6	C	T	2: 25,482,778 (GRCm39)		probably null	Het
Rap2a	A	G	14: 120,716,403 (GRCm39)	S89G	probably damaging	Het
Rara	A	T	11: 98,862,406 (GRCm39)		probably null	Het
Reck	A	G	4: 43,930,295 (GRCm39)	D623G	probably benign	Het
Relt	A	T	7: 100,498,023 (GRCm39)	L237Q	probably damaging	Het
Rngtt	A	G	4: 33,329,598 (GRCm39)		probably null	Het
Rtn4rl2	T	G	2: 84,710,763 (GRCm39)	Y167S	probably damaging	Het
Sec24c	C	T	14: 20,738,505 (GRCm39)	R353C	probably damaging	Het
Slc35g2	T	C	9: 100,435,495 (GRCm39)	S59G	probably benign	Het
Smarcd2	A	T	11: 106,158,241 (GRCm39)	M107K	probably benign	Het
Smg1	T	C	7: 117,781,606 (GRCm39)	N1227S	possibly damaging	Het
Snrnp200	A	G	2: 127,063,734 (GRCm39)	N638D	possibly damaging	Het
Sntb1	A	G	15: 55,506,179 (GRCm39)	S465P	probably benign	Het
Sp4	A	G	12: 118,263,314 (GRCm39)	L244P	probably damaging	Het
Sulf1	A	G	1: 12,887,716 (GRCm39)		probably null	Het
Tbc1d17	T	C	7: 44,492,509 (GRCm39)	T385A	probably benign	Het
Tbx10	C	A	19: 4,047,873 (GRCm39)	D206E	probably benign	Het
Tcea2	C	T	2: 181,329,431 (GRCm39)	P275S	probably damaging	Het
Tns3	C	A	11: 8,443,121 (GRCm39)	R414L	probably benign	Het
Trip11	T	C	12: 101,852,235 (GRCm39)	R610G	possibly damaging	Het
Ugt2b1	T	C	5: 87,073,720 (GRCm39)	K213R	probably null	Het
Unc80	A	G	1: 66,647,601 (GRCm39)	S1514G	probably benign	Het
Usp7	G	T	16: 8,511,778 (GRCm39)	Q867K	possibly damaging	Het
Vim	T	C	2: 13,579,463 (GRCm39)	V74A	probably benign	Het
Vmn1r234	A	G	17: 21,450,007 (GRCm39)	Y307C	probably benign	Het
Vmn2r74	A	T	7: 85,610,517 (GRCm39)	Y58*	probably null	Het
Wdr36	C	A	18: 32,983,584 (GRCm39)	A445E	probably damaging	Het
Xpo5	T	A	17: 46,532,359 (GRCm39)	W465R	probably damaging	Het
Zscan4d	T	A	7: 10,898,946 (GRCm39)	R110S	probably damaging	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
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'- TTGCCAGATCAGTCTCAGCTTGCC -3'
(R):5'- TTTGAACTCCATGTCCAGCGCC -3'

Sequencing Primer
(F):5'- CCAGAGTCTGGTTTTCCCGAG -3'
(R):5'- CCTGCAGGTGAGCATCATAA -3'

Posted On

2013-07-11