Mutagenetix > Incidental Mutation

Incidental Mutation 'R4198:Kera'

318640

Institutional Source

Beutler Lab

Gene Symbol

Kera

Ensembl Gene

ENSMUSG00000019932

Gene Name

keratocan

Synonyms

CNA2, SLRR2B

MMRRC Submission

041640-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4198 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97442873-97449555 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 97448835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 352 (*352Q)

Ref Sequence

ENSEMBL: ENSMUSP00000100923 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105286]

AlphaFold

O35367

Predicted Effect

probably null
Transcript: ENSMUST00000105286
AA Change: *352Q

SMART Domains

Protein: ENSMUSP00000100923
Gene: ENSMUSG00000019932
AA Change: *352Q

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
LRRNT	42	76	1.9e-14	SMART
LRR	71	90	2.5e-1	SMART
LRR	121	140	2.1e-1	SMART
LRR	142	161	1.5e0	SMART
LRR	166	191	3.4e-2	SMART
LRR	192	215	2.8e-2	SMART
LRR	213	232	9.2e-1	SMART
Blast:LRR	237	261	4e-8	BLAST
LRR	262	281	6.3e-2	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a keratan sulfate proteoglycan that is involved in corneal transparency. Defects in this gene are a cause of autosomal recessive cornea plana 2 (CNA2).[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for disruptions in this gene have a thinner than normal corneal stroma with thicker collagen fibers which were less regularly packed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	G	A	1: 58,124,766 (GRCm39)	M1002I	probably benign	Het
Ap2b1	C	A	11: 83,233,429 (GRCm39)	Q481K	probably damaging	Het
Arhgap31	G	A	16: 38,444,275 (GRCm39)	A194V	probably damaging	Het
Atp10a	A	G	7: 58,463,434 (GRCm39)	D989G	probably damaging	Het
Ccny	G	A	18: 9,332,928 (GRCm39)	T201I	probably damaging	Het
Cdca5	T	C	19: 6,140,382 (GRCm39)	V181A	possibly damaging	Het
Ces1g	A	G	8: 94,032,496 (GRCm39)	I488T	probably benign	Het
Csmd2	A	G	4: 128,404,717 (GRCm39)	T2368A	probably benign	Het
Cux1	T	A	5: 136,315,702 (GRCm39)	I1113F	probably damaging	Het
Dnah3	C	T	7: 119,522,061 (GRCm39)	G4033D	probably damaging	Het
Foxg1	T	A	12: 49,432,082 (GRCm39)	S272T	possibly damaging	Het
Fyco1	T	C	9: 123,655,699 (GRCm39)	N1020D	probably benign	Het
Gprc5c	T	G	11: 114,754,686 (GRCm39)	L121R	probably damaging	Het
Hyou1	G	A	9: 44,300,156 (GRCm39)	R815H	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lnpk	T	C	2: 74,399,453 (GRCm39)	E30G	probably damaging	Het
Map2	C	T	1: 66,464,457 (GRCm39)	R128C	probably damaging	Het
Or1i2	A	T	10: 78,447,901 (GRCm39)	D191E	possibly damaging	Het
Or1o2	T	A	17: 37,543,025 (GRCm39)	M79L	probably benign	Het
Or2y11	G	A	11: 49,443,461 (GRCm39)	V296M	possibly damaging	Het
Or51h7	A	G	7: 102,591,004 (GRCm39)	F260S	probably damaging	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Ror2	A	G	13: 53,264,680 (GRCm39)	M792T	probably benign	Het
Serpinb9d	A	G	13: 33,386,948 (GRCm39)	I339V	probably benign	Het
Serpinb9d	A	G	13: 33,386,657 (GRCm39)		probably null	Het
Slc1a1	A	G	19: 28,878,852 (GRCm39)	K197R	probably benign	Het
Snx20	A	G	8: 89,354,226 (GRCm39)	V168A	possibly damaging	Het
Sowaha	T	C	11: 53,369,395 (GRCm39)	E447G	possibly damaging	Het
Stard8	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	X: 98,110,114 (GRCm39)		probably benign	Het
Stx19	G	T	16: 62,643,039 (GRCm39)	C285F	possibly damaging	Het
Syp	A	G	X: 7,506,166 (GRCm39)		probably null	Het
Tbkbp1	C	T	11: 97,039,894 (GRCm39)		probably null	Het
Trim29	G	T	9: 43,222,677 (GRCm39)	E169*	probably null	Het
Ttll12	T	C	15: 83,461,214 (GRCm39)	N602D	probably damaging	Het
Zfp26	T	C	9: 20,348,012 (GRCm39)	T851A	probably benign	Het
Zfp316	T	C	5: 143,240,226 (GRCm39)	M598V	probably benign	Het
Zhx2	A	G	15: 57,685,125 (GRCm39)	I165V	probably benign	Het

Other mutations in Kera

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01670:Kera	APN	10	97,444,939 (GRCm39)	missense	possibly damaging	0.79
R1309:Kera	UTSW	10	97,445,288 (GRCm39)	missense	possibly damaging	0.82
R1830:Kera	UTSW	10	97,445,009 (GRCm39)	missense	probably benign	0.29
R1895:Kera	UTSW	10	97,445,009 (GRCm39)	missense	probably benign	0.29
R1946:Kera	UTSW	10	97,445,009 (GRCm39)	missense	probably benign	0.29
R2365:Kera	UTSW	10	97,444,805 (GRCm39)	missense	probably benign	0.44
R3957:Kera	UTSW	10	97,448,707 (GRCm39)	missense	probably benign
R4624:Kera	UTSW	10	97,445,493 (GRCm39)	missense	probably benign	0.00
R4625:Kera	UTSW	10	97,445,493 (GRCm39)	missense	probably benign	0.00
R4628:Kera	UTSW	10	97,445,493 (GRCm39)	missense	probably benign	0.00
R4629:Kera	UTSW	10	97,445,493 (GRCm39)	missense	probably benign	0.00
R4640:Kera	UTSW	10	97,448,749 (GRCm39)	missense	probably damaging	1.00
R6496:Kera	UTSW	10	97,448,672 (GRCm39)	missense	probably benign
R6767:Kera	UTSW	10	97,445,034 (GRCm39)	missense	possibly damaging	0.92
R6999:Kera	UTSW	10	97,444,814 (GRCm39)	missense	probably damaging	1.00
R7017:Kera	UTSW	10	97,444,939 (GRCm39)	missense	possibly damaging	0.79
R7117:Kera	UTSW	10	97,448,714 (GRCm39)	missense	probably benign
R7519:Kera	UTSW	10	97,444,884 (GRCm39)	missense	probably damaging	1.00
R7968:Kera	UTSW	10	97,444,821 (GRCm39)	missense	possibly damaging	0.61
R9166:Kera	UTSW	10	97,448,830 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- TGGTCTAGATCTCCATACTCTCTGG -3'
(R):5'- AACTAATACACGTGGCCCCTG -3'

Sequencing Primer
(F):5'- TCTCTCTGCCTCCATAGATGTGAAC -3'
(R):5'- TGTGTGTCACTGACCAGAGCATC -3'

Posted On

2015-06-10