Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00567:Col5a2'

13384

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col5a2

Ensembl Gene

ENSMUSG00000026042

Gene Name

collagen, type V, alpha 2

Synonyms

1110014L14Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00567

Quality Score

Status

Chromosome

Chromosomal Location

45413491-45542442 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 45432037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000083620 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086430]

AlphaFold

Q3U962

Predicted Effect

probably benign
Transcript: ENSMUST00000086430

SMART Domains

Protein: ENSMUSP00000083620
Gene: ENSMUSG00000026042

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
VWC	40	95	9.94e-23	SMART
Pfam:Collagen	123	186	1.5e-10	PFAM
Pfam:Collagen	207	272	2.9e-9	PFAM
low complexity region	319	347	N/A	INTRINSIC
internal_repeat_1	349	421	3.18e-18	PROSPERO
internal_repeat_2	385	422	1.34e-12	PROSPERO
internal_repeat_5	388	423	1.55e-7	PROSPERO
low complexity region	424	460	N/A	INTRINSIC
low complexity region	471	508	N/A	INTRINSIC
internal_repeat_6	509	535	5.68e-7	PROSPERO
internal_repeat_2	511	548	1.34e-12	PROSPERO
internal_repeat_3	520	549	1.16e-11	PROSPERO
internal_repeat_1	520	571	3.18e-18	PROSPERO
internal_repeat_4	546	574	4.91e-9	PROSPERO
low complexity region	595	611	N/A	INTRINSIC
internal_repeat_7	616	741	1.35e-6	PROSPERO
low complexity region	742	757	N/A	INTRINSIC
Pfam:Collagen	790	870	4.8e-8	PFAM
low complexity region	877	898	N/A	INTRINSIC
Pfam:Collagen	907	979	4.2e-8	PFAM
internal_repeat_4	993	1021	4.91e-9	PROSPERO
internal_repeat_3	994	1023	1.16e-11	PROSPERO
low complexity region	1024	1054	N/A	INTRINSIC
internal_repeat_6	1055	1078	5.68e-7	PROSPERO
low complexity region	1081	1096	N/A	INTRINSIC
Pfam:Collagen	1111	1171	9.7e-12	PFAM
Pfam:Collagen	1168	1230	1.4e-9	PFAM
COLFI	1263	1497	1.83e-164	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150143

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the alpha-2 subunit of type V collagen, one of the low abundance fibrillar collagens that gets incorporated into growing fibrils with type I collagen. The encoded protein, in association with alpha-1 and/or alpha-3 subunits, forms homo- or heterotrimeric type V procollagen that undergoes proteolytic processing. Mice lacking the encoded protein die in utero. Transgenic mice that produce a structurally abnormal form of the encoded protein survive poorly and exhibit skin fragility, skeletal abnormalities and alterations in the collagen fiber organization. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant animals exhibit reduced body weight, reduced bone growth rate, thin, fragile skin, variable degrees of lordosis and kyphosis, abnormal localization of hair follicles in the dermis, and thinned stroma of the cornea. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 8,990,747 (GRCm39)	N4010K	probably benign	Het
Atm	G	T	9: 53,414,416 (GRCm39)	Y891*	probably null	Het
Cfap70	C	T	14: 20,444,748 (GRCm39)	V1083I	probably benign	Het
Dsg1c	T	C	18: 20,407,733 (GRCm39)	S360P	probably damaging	Het
Fam162b	C	T	10: 51,466,390 (GRCm39)	G43E	possibly damaging	Het
Gata6	A	G	18: 11,084,330 (GRCm39)	M540V	possibly damaging	Het
Gnl3l	A	T	X: 149,777,242 (GRCm39)		probably null	Het
Mark2	T	C	19: 7,318,549 (GRCm39)	E13G	possibly damaging	Het
Myo16	A	C	8: 10,512,154 (GRCm39)	I778L	probably damaging	Het
Postn	T	C	3: 54,291,944 (GRCm39)	V715A	probably benign	Het
Prl3c1	A	G	13: 27,384,695 (GRCm39)	E68G	possibly damaging	Het
Ptch1	C	A	13: 63,674,989 (GRCm39)	S741I	probably benign	Het
Rbm8a2	T	C	1: 175,806,228 (GRCm39)	E83G	possibly damaging	Het
Scyl2	C	T	10: 89,493,671 (GRCm39)		probably null	Het
Serpinb1c	T	C	13: 33,067,958 (GRCm39)	K213E	probably damaging	Het
Tgm6	A	G	2: 129,978,415 (GRCm39)	D83G	probably benign	Het
Ube2l6	C	T	2: 84,639,382 (GRCm39)	P115L	possibly damaging	Het
Ugt2b37	A	T	5: 87,401,933 (GRCm39)	W233R	probably damaging	Het
Ush2a	A	G	1: 188,697,114 (GRCm39)	T5191A	probably damaging	Het
Wdfy3	G	T	5: 102,059,896 (GRCm39)		probably benign	Het
Zan	T	C	5: 137,414,539 (GRCm39)		probably benign	Het

Other mutations in Col5a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Col5a2	APN	1	45,415,899 (GRCm39)	missense	probably benign	0.01
IGL01366:Col5a2	APN	1	45,431,048 (GRCm39)	missense	possibly damaging	0.46
IGL01487:Col5a2	APN	1	45,415,899 (GRCm39)	missense	probably benign	0.01
IGL01820:Col5a2	APN	1	45,481,985 (GRCm39)	missense	unknown
IGL01980:Col5a2	APN	1	45,421,393 (GRCm39)	splice site	probably benign
IGL02063:Col5a2	APN	1	45,442,579 (GRCm39)	critical splice donor site	probably null
IGL02134:Col5a2	APN	1	45,430,230 (GRCm39)	splice site	probably null
IGL02233:Col5a2	APN	1	45,422,747 (GRCm39)	splice site	probably null
IGL02489:Col5a2	APN	1	45,431,971 (GRCm39)	splice site	probably null
IGL02928:Col5a2	APN	1	45,424,180 (GRCm39)	missense	probably benign	0.41
IGL02931:Col5a2	APN	1	45,424,225 (GRCm39)	missense	probably damaging	1.00
IGL03328:Col5a2	APN	1	45,415,306 (GRCm39)	missense	possibly damaging	0.94
Beatnik	UTSW	1	45,415,938 (GRCm39)	missense	probably damaging	0.99
R0022:Col5a2	UTSW	1	45,422,843 (GRCm39)	nonsense	probably null
R0123:Col5a2	UTSW	1	45,446,195 (GRCm39)	missense	probably benign	0.28
R0180:Col5a2	UTSW	1	45,450,620 (GRCm39)	missense	probably damaging	1.00
R0225:Col5a2	UTSW	1	45,446,195 (GRCm39)	missense	probably benign	0.28
R0455:Col5a2	UTSW	1	45,421,262 (GRCm39)	splice site	probably benign
R0485:Col5a2	UTSW	1	45,417,642 (GRCm39)	missense	probably damaging	0.99
R0702:Col5a2	UTSW	1	45,419,291 (GRCm39)	missense	possibly damaging	0.54
R0745:Col5a2	UTSW	1	45,446,387 (GRCm39)	splice site	probably null
R1147:Col5a2	UTSW	1	45,415,931 (GRCm39)	missense	probably damaging	0.99
R1147:Col5a2	UTSW	1	45,415,931 (GRCm39)	missense	probably damaging	0.99
R1394:Col5a2	UTSW	1	45,442,579 (GRCm39)	critical splice donor site	probably null
R1494:Col5a2	UTSW	1	45,542,074 (GRCm39)	start codon destroyed	unknown
R1499:Col5a2	UTSW	1	45,450,626 (GRCm39)	missense	probably benign	0.00
R1733:Col5a2	UTSW	1	45,446,192 (GRCm39)	missense	possibly damaging	0.81
R1789:Col5a2	UTSW	1	45,433,936 (GRCm39)	missense	probably damaging	0.98
R1789:Col5a2	UTSW	1	45,417,465 (GRCm39)	critical splice donor site	probably null
R2114:Col5a2	UTSW	1	45,415,964 (GRCm39)	missense	probably damaging	0.98
R2915:Col5a2	UTSW	1	45,452,656 (GRCm39)	missense	probably damaging	1.00
R3861:Col5a2	UTSW	1	45,419,397 (GRCm39)	missense	probably damaging	0.98
R4015:Col5a2	UTSW	1	45,442,631 (GRCm39)	missense	probably benign	0.14
R4944:Col5a2	UTSW	1	45,415,855 (GRCm39)	missense	possibly damaging	0.75
R4982:Col5a2	UTSW	1	45,428,618 (GRCm39)	missense	possibly damaging	0.88
R5001:Col5a2	UTSW	1	45,542,058 (GRCm39)	missense	unknown
R5159:Col5a2	UTSW	1	45,425,991 (GRCm39)	critical splice donor site	probably null
R5197:Col5a2	UTSW	1	45,432,241 (GRCm39)	missense	probably benign	0.01
R5407:Col5a2	UTSW	1	45,445,440 (GRCm39)	missense	possibly damaging	0.54
R5502:Col5a2	UTSW	1	45,419,286 (GRCm39)	missense	probably damaging	1.00
R5575:Col5a2	UTSW	1	45,417,642 (GRCm39)	missense	probably damaging	0.99
R5622:Col5a2	UTSW	1	45,466,219 (GRCm39)	missense	probably benign
R5643:Col5a2	UTSW	1	45,429,202 (GRCm39)	missense	probably damaging	1.00
R5801:Col5a2	UTSW	1	45,428,641 (GRCm39)	critical splice acceptor site	probably null
R6075:Col5a2	UTSW	1	45,542,008 (GRCm39)	missense	unknown
R6211:Col5a2	UTSW	1	45,415,826 (GRCm39)	missense	probably damaging	0.99
R6407:Col5a2	UTSW	1	45,415,938 (GRCm39)	missense	probably damaging	0.99
R6494:Col5a2	UTSW	1	45,417,487 (GRCm39)	missense	probably damaging	0.99
R6582:Col5a2	UTSW	1	45,429,275 (GRCm39)	missense	possibly damaging	0.91
R6687:Col5a2	UTSW	1	45,422,764 (GRCm39)	missense	probably damaging	1.00
R7007:Col5a2	UTSW	1	45,417,609 (GRCm39)	missense	possibly damaging	0.53
R7062:Col5a2	UTSW	1	45,456,785 (GRCm39)	missense	probably benign	0.00
R7098:Col5a2	UTSW	1	45,419,227 (GRCm39)	missense	possibly damaging	0.48
R7243:Col5a2	UTSW	1	45,415,320 (GRCm39)	missense	probably benign	0.39
R7326:Col5a2	UTSW	1	45,482,027 (GRCm39)	missense	unknown
R7332:Col5a2	UTSW	1	45,419,325 (GRCm39)	missense	probably damaging	1.00
R7642:Col5a2	UTSW	1	45,415,248 (GRCm39)	missense	probably benign	0.01
R7890:Col5a2	UTSW	1	45,444,147 (GRCm39)	splice site	probably null
R8066:Col5a2	UTSW	1	45,452,628 (GRCm39)	critical splice donor site	probably null
R8375:Col5a2	UTSW	1	45,481,890 (GRCm39)	missense	unknown
R8444:Col5a2	UTSW	1	45,435,305 (GRCm39)	missense	probably benign	0.06
R8506:Col5a2	UTSW	1	45,481,944 (GRCm39)	missense	unknown
R8686:Col5a2	UTSW	1	45,461,147 (GRCm39)	missense	probably damaging	1.00
R8907:Col5a2	UTSW	1	45,456,106 (GRCm39)	missense	probably benign	0.27
R8932:Col5a2	UTSW	1	45,419,306 (GRCm39)	missense	probably benign	0.00
R8933:Col5a2	UTSW	1	45,461,123 (GRCm39)	missense
R9087:Col5a2	UTSW	1	45,481,818 (GRCm39)	missense	unknown
R9105:Col5a2	UTSW	1	45,419,366 (GRCm39)	missense	probably benign	0.00
R9282:Col5a2	UTSW	1	45,478,029 (GRCm39)	critical splice donor site	probably null
R9457:Col5a2	UTSW	1	45,431,973 (GRCm39)	critical splice donor site	probably null
R9457:Col5a2	UTSW	1	45,426,004 (GRCm39)	missense	probably benign	0.00
R9568:Col5a2	UTSW	1	45,430,998 (GRCm39)	missense	possibly damaging	0.89
R9727:Col5a2	UTSW	1	45,415,818 (GRCm39)	missense	possibly damaging	0.50
X0013:Col5a2	UTSW	1	45,442,418 (GRCm39)	critical splice donor site	probably null
Z1176:Col5a2	UTSW	1	45,435,644 (GRCm39)	missense	probably benign	0.11
Z1176:Col5a2	UTSW	1	45,422,840 (GRCm39)	missense	probably damaging	1.00
Z1176:Col5a2	UTSW	1	45,415,306 (GRCm39)	missense	possibly damaging	0.94
Z1177:Col5a2	UTSW	1	45,442,633 (GRCm39)	missense	probably damaging	1.00
Z1177:Col5a2	UTSW	1	45,441,273 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06