Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01776:Col8a2'

153875

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col8a2

Ensembl Gene

ENSMUSG00000056174

Gene Name

collagen, type VIII, alpha 2

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.408) question?

Stock #

IGL01776

Quality Score

Status

Chromosome

Chromosomal Location

126286793-126314330 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to A at 126309805 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123003 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070132] [ENSMUST00000128435]

AlphaFold

P25318

Predicted Effect

probably benign
Transcript: ENSMUST00000070132

SMART Domains

Protein: ENSMUSP00000070270
Gene: ENSMUSG00000056174

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	25	33	N/A	INTRINSIC
low complexity region	60	69	N/A	INTRINSIC
low complexity region	72	105	N/A	INTRINSIC
Pfam:Collagen	116	168	1.2e-9	PFAM
low complexity region	207	237	N/A	INTRINSIC
internal_repeat_1	240	259	1.3e-7	PROSPERO
low complexity region	260	327	N/A	INTRINSIC
low complexity region	342	387	N/A	INTRINSIC
internal_repeat_1	388	407	1.3e-7	PROSPERO
low complexity region	408	429	N/A	INTRINSIC
low complexity region	440	459	N/A	INTRINSIC
low complexity region	471	530	N/A	INTRINSIC
low complexity region	545	557	N/A	INTRINSIC
C1Q	564	699	2.44e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128435

SMART Domains

Protein: ENSMUSP00000123003
Gene: ENSMUSG00000056174

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
low complexity region	25	33	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a thinner Descemet's membrane of the cornea. Mice heterozygous or homozygous for an ENU-induced mutation exhibit thin cornea, corneal epithelium, stroma, and Descemet membrane, and enlarged anterior chamber. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	G	A	5: 90,283,364	Q854*	probably null	Het
Armc8	A	G	9: 99,526,883		probably benign	Het
Chrna7	A	G	7: 63,099,519	V405A	probably benign	Het
Dcn	A	G	10: 97,495,076	I91V	possibly damaging	Het
Dock7	T	A	4: 98,940,941	R2069S	possibly damaging	Het
Gm7247	A	G	14: 51,521,899	S112G	possibly damaging	Het
Hmcn1	T	G	1: 150,672,038	T2721P	possibly damaging	Het
Hsd3b3	T	C	3: 98,743,847	T96A	probably benign	Het
Ifi207	G	A	1: 173,725,044	L936F	probably damaging	Het
Kcp	G	A	6: 29,497,908	P477S	probably damaging	Het
Mei1	T	C	15: 82,095,932		probably null	Het
Mgmt	T	A	7: 137,121,564	L121*	probably null	Het
Mrps35	G	A	6: 147,070,716	V286I	probably benign	Het
Naxd	T	C	8: 11,505,525		probably null	Het
Pam	A	G	1: 97,885,600		probably null	Het
Plcxd1	G	A	5: 110,101,380		probably benign	Het
Rasgrp1	A	G	2: 117,286,840		probably null	Het
Spag9	C	T	11: 94,116,727		probably benign	Het
Spire2	T	C	8: 123,359,392	S288P	probably damaging	Het
Stk11ip	T	C	1: 75,527,821	V322A	probably benign	Het
Syt17	A	C	7: 118,409,953	L343R	probably damaging	Het
Tap1	G	A	17: 34,193,128	V436I	possibly damaging	Het
Virma	C	T	4: 11,527,792	R1228C	probably damaging	Het

Other mutations in Col8a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Col8a2	APN	4	126309791	missense	probably damaging	0.99
IGL03367:Col8a2	APN	4	126312198	missense	probably damaging	1.00
R1861:Col8a2	UTSW	4	126311624	unclassified	probably benign
R1909:Col8a2	UTSW	4	126312133	missense	possibly damaging	0.63
R2038:Col8a2	UTSW	4	126311315	unclassified	probably benign
R2866:Col8a2	UTSW	4	126311199	unclassified	probably benign
R4013:Col8a2	UTSW	4	126311115	unclassified	probably benign
R4586:Col8a2	UTSW	4	126311019	unclassified	probably benign
R4995:Col8a2	UTSW	4	126310788	missense	probably damaging	0.98
R5160:Col8a2	UTSW	4	126310412	missense	possibly damaging	0.77
R5574:Col8a2	UTSW	4	126311268	unclassified	probably benign
R5858:Col8a2	UTSW	4	126311300	unclassified	probably benign
R6803:Col8a2	UTSW	4	126312000	missense	probably damaging	1.00
R8876:Col8a2	UTSW	4	126310854	missense	probably damaging	0.96
R9523:Col8a2	UTSW	4	126311480	missense	unknown
Z1177:Col8a2	UTSW	4	126311543	missense	unknown

Posted On

2014-02-04