Mutagenetix > Incidental Mutation

Incidental Mutation 'R1268:Col5a1'

151199

Institutional Source

Beutler Lab

Gene Symbol

Col5a1

Ensembl Gene

ENSMUSG00000026837

Gene Name

collagen, type V, alpha 1

Synonyms

MMRRC Submission

039335-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1268 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27776437-27929526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27892501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1005 (T1005S)

Ref Sequence

ENSEMBL: ENSMUSP00000028280 (fasta)

Gene Model

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

AlphaFold

O88207

Predicted Effect

unknown
Transcript: ENSMUST00000028280
AA Change: T1005S

SMART Domains

Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837
AA Change: T1005S

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

Meta Mutation Damage Score

0.0594

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (41/41)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	T	C	17: 14,108,248 (GRCm39)	V1257A	probably damaging	Het
Aplnr	A	G	2: 84,967,775 (GRCm39)	T267A	possibly damaging	Het
Arap2	A	G	5: 62,887,964 (GRCm39)	S461P	probably benign	Het
Brpf3	A	G	17: 29,055,530 (GRCm39)	T1160A	probably damaging	Het
Crebrf	CTTTT	CTTT	17: 26,958,570 (GRCm39)		probably null	Het
Fmo6	A	T	1: 162,748,086 (GRCm39)	I326N	probably damaging	Het
Foxp4	G	C	17: 48,191,278 (GRCm39)		probably benign	Het
Gnat1	A	G	9: 107,553,076 (GRCm39)		probably benign	Het
Hs6st1	T	A	1: 36,108,007 (GRCm39)	V90D	probably damaging	Het
Igsf11	A	G	16: 38,845,216 (GRCm39)	T257A	probably benign	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Mab21l3	C	T	3: 101,742,363 (GRCm39)	E66K	possibly damaging	Het
Mroh2a	C	T	1: 88,158,402 (GRCm39)	R150*	probably null	Het
Mybl2	A	G	2: 162,916,636 (GRCm39)	N429S	probably benign	Het
Mycbp2	G	A	14: 103,446,218 (GRCm39)	T1837I	probably damaging	Het
Myh7b	C	A	2: 155,455,966 (GRCm39)	S117*	probably null	Het
Nek1	C	A	8: 61,475,298 (GRCm39)	A202E	probably damaging	Het
Notum	C	T	11: 120,549,493 (GRCm39)	W159*	probably null	Het
Ntn1	TCCTCGGC	TC	11: 68,103,959 (GRCm39)		probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or2w2	C	T	13: 21,758,498 (GRCm39)	V43M	probably benign	Het
Or4c58	A	G	2: 89,674,498 (GRCm39)	I273T	probably damaging	Het
Or4f57	G	T	2: 111,791,222 (GRCm39)	N65K	possibly damaging	Het
Or5b99	T	C	19: 12,976,625 (GRCm39)	Y92H	possibly damaging	Het
Or5p69	A	T	7: 107,967,002 (GRCm39)	I102F	probably benign	Het
Or7g12	T	C	9: 18,899,652 (GRCm39)	F123L	probably damaging	Het
Plk4	T	A	3: 40,765,804 (GRCm39)	V659D	probably damaging	Het
Rbm27	T	C	18: 42,466,367 (GRCm39)	S866P	probably damaging	Het
Rnaseh2b	A	T	14: 62,609,904 (GRCm39)	K303N	possibly damaging	Het
Samd9l	C	T	6: 3,376,113 (GRCm39)	V383I	possibly damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Slc35f2	T	A	9: 53,705,197 (GRCm39)	Y62*	probably null	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Ulk1	A	G	5: 110,938,143 (GRCm39)	S610P	probably damaging	Het
Ulk4	C	A	9: 121,086,140 (GRCm39)		probably benign	Het
Vdr	T	C	15: 97,755,356 (GRCm39)	N389S	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
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'- GCAAATATGGCAGCCCTCAGCATC -3'
(R):5'- ACAGAAGCCCTGCCTCAGTTCAAG -3'

Sequencing Primer
(F):5'- CACAGCCTCCAGAGAGGTTTATG -3'
(R):5'- CTGAACGTGTGAATTTCAGAGAC -3'

Posted On

2014-01-29