Mutagenetix > Incidental Mutation

Incidental Mutation 'R5160:Col8a2'

396923

Institutional Source

Beutler Lab

Gene Symbol

Col8a2

Ensembl Gene

ENSMUSG00000056174

Gene Name

collagen, type VIII, alpha 2

Synonyms

MMRRC Submission

042742-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.407) question?

Stock #

R5160 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126180587-126208123 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126204205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 72 (K72E)

Ref Sequence

ENSEMBL: ENSMUSP00000070270 (fasta)

Gene Model

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

AlphaFold

P25318

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070132
AA Change: K72E

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000070270
Gene: ENSMUSG00000056174
AA Change: K72E

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

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.7%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aftph	G	A	11: 20,662,197 (GRCm39)	P681L	probably benign	Het
Akap9	A	G	5: 4,080,007 (GRCm39)	R1920G	probably damaging	Het
Ano9	G	A	7: 140,684,278 (GRCm39)	R495C	probably damaging	Het
Apoa5	A	G	9: 46,181,794 (GRCm39)	Y290C	probably damaging	Het
Apob	T	C	12: 8,062,126 (GRCm39)	I3536T	possibly damaging	Het
Arhgap42	T	G	9: 8,997,656 (GRCm39)	K823T	probably damaging	Het
Bicc1	T	C	10: 70,768,066 (GRCm39)	Y850C	probably damaging	Het
Cdh2	A	T	18: 16,762,644 (GRCm39)	D433E	probably damaging	Het
Cfap100	A	G	6: 90,390,692 (GRCm39)		probably null	Het
Col6a5	T	C	9: 105,808,208 (GRCm39)	N947D	unknown	Het
Ddx18	A	G	1: 121,493,608 (GRCm39)		probably null	Het
Dna2	T	C	10: 62,782,933 (GRCm39)	V21A	probably benign	Het
Dnaja3	T	A	16: 4,502,152 (GRCm39)	M52K	probably benign	Het
Fnip2	G	A	3: 79,396,298 (GRCm39)	T504I	probably damaging	Het
Il18	G	A	9: 50,489,193 (GRCm39)		probably null	Het
Ina	T	A	19: 47,003,519 (GRCm39)	I109N	probably damaging	Het
Katnb1	G	T	8: 95,822,098 (GRCm39)	V275L	probably benign	Het
Kdm6b	C	A	11: 69,291,594 (GRCm39)		probably benign	Het
Kifc2	T	A	15: 76,547,177 (GRCm39)	L251Q	probably damaging	Het
Kmt2d	A	G	15: 98,738,105 (GRCm39)		probably benign	Het
Lcor	T	A	19: 41,544,053 (GRCm39)	V82E	probably damaging	Het
Limk2	A	C	11: 3,300,772 (GRCm39)	V190G	probably damaging	Het
Luc7l	A	G	17: 26,486,271 (GRCm39)	D150G	probably benign	Het
Magi3	T	A	3: 103,935,224 (GRCm39)	H903L	possibly damaging	Het
Mdh1b	C	T	1: 63,764,804 (GRCm39)	R33Q	probably null	Het
Myo9a	T	C	9: 59,779,085 (GRCm39)	F1614L	probably benign	Het
Ngly1	A	G	14: 16,281,751 (GRCm38)	T210A	probably damaging	Het
Oas1h	A	G	5: 121,009,145 (GRCm39)	Y285C	probably damaging	Het
Or1l4b	T	A	2: 37,036,815 (GRCm39)	M197K	probably benign	Het
Or2h1	T	C	17: 37,404,616 (GRCm39)	D50G	possibly damaging	Het
Or2y12	T	C	11: 49,426,516 (GRCm39)	L168P	probably damaging	Het
Or4a79	T	C	2: 89,551,763 (GRCm39)	R231G	probably damaging	Het
Or5ac25	C	T	16: 59,182,129 (GRCm39)	G151R	probably damaging	Het
Or9s23	C	T	1: 92,501,544 (GRCm39)	T217I	probably benign	Het
Osbpl7	T	C	11: 96,945,382 (GRCm39)	S81P	probably damaging	Het
Pcdha3	T	C	18: 37,079,480 (GRCm39)	V74A	probably damaging	Het
Pi4ka	T	C	16: 17,140,917 (GRCm39)	D68G	probably benign	Het
Prkcz	A	T	4: 155,377,689 (GRCm39)	V79D	probably benign	Het
Ptpn12	T	A	5: 21,202,829 (GRCm39)	I650F	probably damaging	Het
Rb1	A	G	14: 73,501,895 (GRCm39)		silent	Het
Rnaseh2b	T	G	14: 62,590,980 (GRCm39)	Y56*	probably null	Het
Ryr3	A	T	2: 112,477,272 (GRCm39)	C4495S	probably damaging	Het
Tk1	A	G	11: 117,715,572 (GRCm39)	I45T	possibly damaging	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Upp1	T	C	11: 9,085,193 (GRCm39)	S227P	possibly damaging	Het
Vmn1r30	T	A	6: 58,412,368 (GRCm39)	N155Y	probably benign	Het
Wdr35	C	T	12: 9,058,487 (GRCm39)	A548V	probably damaging	Het
Zc3h3	A	T	15: 75,681,512 (GRCm39)	M523K	probably benign	Het
Zc3h4	T	C	7: 16,168,573 (GRCm39)	L894P	unknown	Het
Zfp790	C	T	7: 29,529,192 (GRCm39)	H626Y	probably benign	Het
Zfp873	C	T	10: 81,896,876 (GRCm39)	H536Y	possibly damaging	Het
Zmym4	A	T	4: 126,763,977 (GRCm39)	N1354K	probably damaging	Het
Zscan20	A	G	4: 128,486,275 (GRCm39)	S142P	possibly damaging	Het

Other mutations in Col8a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00952:Col8a2	APN	4	126,203,584 (GRCm39)	missense	probably damaging	0.99
IGL01776:Col8a2	APN	4	126,203,598 (GRCm39)	unclassified	probably benign
IGL03367:Col8a2	APN	4	126,205,991 (GRCm39)	missense	probably damaging	1.00
R1861:Col8a2	UTSW	4	126,205,417 (GRCm39)	unclassified	probably benign
R1909:Col8a2	UTSW	4	126,205,926 (GRCm39)	missense	possibly damaging	0.63
R2038:Col8a2	UTSW	4	126,205,108 (GRCm39)	unclassified	probably benign
R2866:Col8a2	UTSW	4	126,204,992 (GRCm39)	unclassified	probably benign
R4013:Col8a2	UTSW	4	126,204,908 (GRCm39)	unclassified	probably benign
R4586:Col8a2	UTSW	4	126,204,812 (GRCm39)	unclassified	probably benign
R4995:Col8a2	UTSW	4	126,204,581 (GRCm39)	missense	probably damaging	0.98
R5574:Col8a2	UTSW	4	126,205,061 (GRCm39)	unclassified	probably benign
R5858:Col8a2	UTSW	4	126,205,093 (GRCm39)	unclassified	probably benign
R6803:Col8a2	UTSW	4	126,205,793 (GRCm39)	missense	probably damaging	1.00
R8876:Col8a2	UTSW	4	126,204,647 (GRCm39)	missense	probably damaging	0.96
R9523:Col8a2	UTSW	4	126,205,273 (GRCm39)	missense	unknown
Z1177:Col8a2	UTSW	4	126,205,336 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACAGCTCTGGGAGTGTTCTCTG -3'
(R):5'- ACAGTAATACCTGAGGGACCAG -3'

Sequencing Primer
(F):5'- CTCTGGGAGTGTTCTCTGTGAGC -3'
(R):5'- TGGTGGTCCAACCTTGCCTG -3'

Posted On

2016-06-21