Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02134:Col5a2'

281251

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 #

IGL02134

Quality Score

Status

Chromosome

Chromosomal Location

45413491-45542442 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 45430230 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 null
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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf4	T	C	17: 42,980,581 (GRCm39)	N168S	probably damaging	Het
Angptl3	A	T	4: 98,919,349 (GRCm39)	R36S	probably damaging	Het
Ap5z1	T	C	5: 142,460,214 (GRCm39)	F514L	probably benign	Het
Arhgef39	C	A	4: 43,497,578 (GRCm39)		probably null	Het
Aste1	A	G	9: 105,275,043 (GRCm39)	S11G	probably damaging	Het
Cadm4	T	C	7: 24,198,986 (GRCm39)	V87A	probably benign	Het
Cd177	A	G	7: 24,451,777 (GRCm39)	I413T	probably benign	Het
Dera	C	T	6: 137,807,269 (GRCm39)	A239V	probably damaging	Het
Ecm1	T	C	3: 95,643,499 (GRCm39)	E283G	probably damaging	Het
Eml6	G	T	11: 29,709,066 (GRCm39)	H24N	probably benign	Het
Etl4	A	G	2: 20,811,240 (GRCm39)	K1425E	possibly damaging	Het
Fgd3	G	A	13: 49,450,225 (GRCm39)	S8L	possibly damaging	Het
Gli1	T	C	10: 127,172,369 (GRCm39)	E228G	probably benign	Het
Hivep3	A	G	4: 119,990,771 (GRCm39)		probably benign	Het
Iqcc	A	G	4: 129,512,818 (GRCm39)	S11P	probably damaging	Het
Itpkc	G	A	7: 26,927,300 (GRCm39)	Q205*	probably null	Het
Jmjd1c	T	A	10: 67,056,171 (GRCm39)	S530R	possibly damaging	Het
Kcnq1	A	G	7: 142,737,453 (GRCm39)	H257R	possibly damaging	Het
Kcnt2	G	A	1: 140,304,121 (GRCm39)	V164I	probably benign	Het
Lgr5	T	C	10: 115,288,763 (GRCm39)	H603R	possibly damaging	Het
Lrp2	T	C	2: 69,343,723 (GRCm39)		probably null	Het
Lrrn2	A	G	1: 132,865,555 (GRCm39)	M207V	possibly damaging	Het
Miip	A	G	4: 147,949,735 (GRCm39)		probably benign	Het
Mrps35	T	C	6: 146,949,808 (GRCm39)		probably benign	Het
Nuf2	A	T	1: 169,341,069 (GRCm39)	M184K	probably benign	Het
Or10q1	C	A	19: 13,727,165 (GRCm39)	R232S	probably benign	Het
Or14j2	C	T	17: 37,886,249 (GRCm39)	E22K	probably benign	Het
Or2f2	A	G	6: 42,767,398 (GRCm39)	T142A	probably benign	Het
Or4a15	A	T	2: 89,193,172 (GRCm39)	N200K	probably damaging	Het
Or8g32	A	T	9: 39,305,830 (GRCm39)	I248F	probably damaging	Het
Os9	T	C	10: 126,956,861 (GRCm39)	I42V	possibly damaging	Het
Rapgef4	A	C	2: 72,010,405 (GRCm39)	Q177P	probably damaging	Het
Rhpn2	T	C	7: 35,070,536 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,314,958 (GRCm39)	R1916G	probably damaging	Het
Serpine1	T	A	5: 137,095,889 (GRCm39)		probably benign	Het
Snd1	C	T	6: 28,880,278 (GRCm39)	P684L	possibly damaging	Het
Tgds	T	C	14: 118,350,534 (GRCm39)	N340D	probably benign	Het
Trpc4	A	T	3: 54,223,075 (GRCm39)	Y706F	possibly damaging	Het
Ttn	T	A	2: 76,584,166 (GRCm39)	D22314V	probably damaging	Het
Utrn	G	A	10: 12,519,163 (GRCm39)	T2263I	probably damaging	Het
Vmn1r11	A	T	6: 57,115,022 (GRCm39)	T229S	possibly damaging	Het
Zfp142	T	G	1: 74,609,022 (GRCm39)	H1488P	probably damaging	Het
Zfp219	A	G	14: 52,246,758 (GRCm39)	L78P	probably damaging	Het
Zfp629	T	A	7: 127,211,042 (GRCm39)	T256S	probably benign	Het

Other mutations in Col5a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00567:Col5a2	APN	1	45,432,037 (GRCm39)	splice site	probably benign
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
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

2015-04-16