Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Col5a1'

212179

Institutional Source

Beutler Lab

Gene Symbol

Col5a1

Ensembl Gene

ENSMUSG00000026837

Gene Name

collagen, type V, alpha 1

Synonyms

MMRRC Submission

039921-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1901 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

27776437-27929526 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27850456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 518 (T518A)

Ref Sequence

ENSEMBL: ENSMUSP00000028280 (fasta)

Gene Model

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

AlphaFold

O88207

Predicted Effect

unknown
Transcript: ENSMUST00000028280
AA Change: T518A

SMART Domains

Protein: ENSMUSP00000028280
Gene: ENSMUSG00000026837
AA Change: T518A

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: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,945,322 (GRCm39)	E466G	probably damaging	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Acta1	A	T	8: 124,619,900 (GRCm39)	S147T	probably benign	Het
Adh1	G	A	3: 137,994,558 (GRCm39)	V293I	probably benign	Het
Aldh3b3	T	C	19: 4,015,130 (GRCm39)	Y170H	probably damaging	Het
Ank3	A	T	10: 69,658,167 (GRCm39)	T198S	probably damaging	Het
Ankrd12	A	T	17: 66,293,698 (GRCm39)	N578K	possibly damaging	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,576,078 (GRCm39)	I88K	unknown	Het
Col1a1	G	A	11: 94,837,458 (GRCm39)		probably null	Het
Cul7	T	C	17: 46,966,666 (GRCm39)	L365P	probably damaging	Het
Dlec1	T	C	9: 118,931,712 (GRCm39)	S44P	probably damaging	Het
Dock9	T	C	14: 121,862,565 (GRCm39)		probably null	Het
Fbxl9	T	C	8: 106,039,707 (GRCm39)	N556S	probably damaging	Het
Flrt2	C	A	12: 95,745,904 (GRCm39)	P81T	probably damaging	Het
Flrt2	C	T	12: 95,745,905 (GRCm39)	P81L	probably damaging	Het
Ginm1	A	G	10: 7,650,980 (GRCm39)		probably null	Het
Glis3	T	C	19: 28,508,985 (GRCm39)	N333S	probably damaging	Het
Glo1	T	G	17: 30,815,382 (GRCm39)	E144D	probably benign	Het
Golga1	A	T	2: 38,937,792 (GRCm39)		probably null	Het
H2-Aa	A	G	17: 34,502,207 (GRCm39)	I155T	possibly damaging	Het
Haus5	A	G	7: 30,356,670 (GRCm39)	S479P	probably damaging	Het
Il10ra	A	T	9: 45,167,654 (GRCm39)	V299D	probably benign	Het
Il17re	T	C	6: 113,446,665 (GRCm39)	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Inppl1	T	C	7: 101,472,584 (GRCm39)	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,119,427 (GRCm39)	L304P	probably damaging	Het
Krt78	A	T	15: 101,855,398 (GRCm39)	C804*	probably null	Het
Med15	G	T	16: 17,491,018 (GRCm39)		probably benign	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Mroh1	A	G	15: 76,320,249 (GRCm39)	T1008A	probably benign	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Mug2	C	A	6: 122,048,801 (GRCm39)	H856N	probably benign	Het
Naca	T	A	10: 127,879,590 (GRCm39)		probably benign	Het
Nagk	G	T	6: 83,776,336 (GRCm39)	V184F	probably damaging	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncor2	T	A	5: 125,102,489 (GRCm39)	H2089L	probably benign	Het
Nek6	A	G	2: 38,472,458 (GRCm39)	I261V	probably damaging	Het
Neurod2	G	A	11: 98,218,558 (GRCm39)	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,716,726 (GRCm39)	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,123,335 (GRCm39)	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,189,667 (GRCm39)	V340D	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10x1	A	T	1: 174,196,734 (GRCm39)	I84L	probably benign	Het
Or52l1	A	G	7: 104,830,079 (GRCm39)	I162T	possibly damaging	Het
Or52z15	T	C	7: 103,332,750 (GRCm39)	I265T	probably damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,683 (GRCm39)	W610R	possibly damaging	Het
Pias2	T	A	18: 77,185,139 (GRCm39)	C66*	probably null	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Prpf8	T	G	11: 75,395,570 (GRCm39)	V1899G	probably damaging	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
R3hdm2	T	C	10: 127,334,337 (GRCm39)	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,247,350 (GRCm39)	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 179,925,106 (GRCm39)	R33Q	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Rptn	A	T	3: 93,304,017 (GRCm39)	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,608,102 (GRCm39)	K1010*	probably null	Het
Slc16a10	G	A	10: 39,932,602 (GRCm39)	Q33*	probably null	Het
Slc31a1	C	T	4: 62,303,842 (GRCm39)		probably benign	Het
Slc34a1	A	T	13: 55,548,963 (GRCm39)	K138*	probably null	Het
Slc6a18	T	A	13: 73,818,162 (GRCm39)	E285V	probably benign	Het
Slco6c1	T	A	1: 97,000,707 (GRCm39)	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,279,768 (GRCm39)	S295T	probably damaging	Het
Snx4	A	T	16: 33,104,808 (GRCm39)	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,828,482 (GRCm39)	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tcp10b	A	G	17: 13,300,513 (GRCm39)	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,779,260 (GRCm39)	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,613,831 (GRCm39)	K823R	probably damaging	Het
Trim31	A	G	17: 37,212,692 (GRCm39)	E221G	probably benign	Het
Trim47	T	A	11: 115,998,605 (GRCm39)	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vldlr	T	C	19: 27,218,709 (GRCm39)	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,578,198 (GRCm39)	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,508,218 (GRCm39)	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,201,268 (GRCm39)	S19P	possibly damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zfp362	G	T	4: 128,684,069 (GRCm39)	P13T	probably damaging	Het
Zfp825	A	G	13: 74,629,064 (GRCm39)	C151R	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
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
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'- AGTCTCATGTTGCTCTGTGC -3'
(R):5'- CCATTGTCACAAAGAGCCTTGAAG -3'

Sequencing Primer
(F):5'- CATGTTGCTCTGTGCTTGCCTAG -3'
(R):5'- CACCAAGAGAGTGGGATTTTTC -3'

Posted On

2014-06-30