Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01670:Kera'

103453

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kera

Ensembl Gene

ENSMUSG00000019932

Gene Name

keratocan

Synonyms

CNA2, SLRR2B

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01670

Quality Score

Status

Chromosome

Chromosomal Location

97442873-97449555 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 97444939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 99 (R99S)

Ref Sequence

ENSEMBL: ENSMUSP00000100923 (fasta)

Gene Model

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

AlphaFold

O35367

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105286
AA Change: R99S

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100923
Gene: ENSMUSG00000019932
AA Change: R99S

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

Meta Mutation Damage Score

0.0754

Coding Region Coverage

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acy1	A	C	9: 106,314,006 (GRCm39)		probably benign	Het
Add1	C	A	5: 34,777,407 (GRCm39)	Q57K	probably damaging	Het
Alms1	A	G	6: 85,655,132 (GRCm39)	E3226G	probably benign	Het
Arl1	G	T	10: 88,577,884 (GRCm39)	R151L	probably damaging	Het
Cabs1	T	A	5: 88,127,869 (GRCm39)	D173E	possibly damaging	Het
Cdc34b	T	C	11: 94,632,845 (GRCm39)	L15P	probably benign	Het
Cdyl2	A	G	8: 117,351,092 (GRCm39)	V13A	probably damaging	Het
Chd7	G	T	4: 8,827,033 (GRCm39)	R1026L	probably damaging	Het
Cldn34b4	T	C	X: 75,441,195 (GRCm39)	S151P	probably damaging	Het
Col14a1	T	A	15: 55,192,662 (GRCm39)	I25N	unknown	Het
Crisp4	T	A	1: 18,198,901 (GRCm39)	T178S	probably benign	Het
Csmd2	C	T	4: 128,407,164 (GRCm39)		probably benign	Het
Csmd3	T	G	15: 47,475,225 (GRCm39)	N2454H	probably damaging	Het
Cytip	A	T	2: 58,023,785 (GRCm39)	I345N	probably damaging	Het
Frem2	A	T	3: 53,564,358 (GRCm39)	S50T	possibly damaging	Het
Gm9747	C	T	1: 82,211,870 (GRCm39)		probably benign	Het
Gpr37	A	G	6: 25,669,833 (GRCm39)	F337S	probably damaging	Het
Herc1	A	G	9: 66,394,342 (GRCm39)	E4182G	probably damaging	Het
Isyna1	C	T	8: 71,049,706 (GRCm39)	P511L	probably benign	Het
Kdm4a	T	C	4: 118,017,698 (GRCm39)	Y456C	probably damaging	Het
Larp7-ps	T	C	4: 92,079,737 (GRCm39)		probably null	Het
Mcm2	A	G	6: 88,864,614 (GRCm39)		probably benign	Het
Myl12a	T	C	17: 71,303,848 (GRCm39)	T10A	probably benign	Het
Nav3	A	G	10: 109,550,102 (GRCm39)	V1876A	possibly damaging	Het
Nkx6-1	T	A	5: 101,809,806 (GRCm39)	Q247L	probably benign	Het
Nol8	A	C	13: 49,814,784 (GRCm39)	K297N	possibly damaging	Het
Or4c119	T	A	2: 88,987,261 (GRCm39)	Y86F	probably benign	Het
Or51e1	A	T	7: 102,358,772 (GRCm39)	Q102L	probably damaging	Het
Or5w18	A	G	2: 87,633,224 (GRCm39)	T164A	probably benign	Het
Pard3b	A	T	1: 62,250,807 (GRCm39)	N579Y	probably damaging	Het
Pdcd11	T	A	19: 47,094,743 (GRCm39)	L509H	probably damaging	Het
Prss29	T	C	17: 25,541,437 (GRCm39)	S266P	probably benign	Het
Rapgef3	G	T	15: 97,647,543 (GRCm39)	H766N	probably benign	Het
Rasa1	A	T	13: 85,373,609 (GRCm39)	S818T	probably damaging	Het
Rtn4ip1	A	G	10: 43,804,322 (GRCm39)	M1V	probably null	Het
Sall1	A	T	8: 89,758,199 (GRCm39)	V635D	probably benign	Het
Slc35b4	C	T	6: 34,147,484 (GRCm39)	V35I	probably benign	Het
Slc5a11	G	A	7: 122,869,172 (GRCm39)	A587T	probably benign	Het
Slc6a21	T	C	7: 44,937,557 (GRCm39)	V616A	possibly damaging	Het
Sorl1	A	G	9: 41,912,788 (GRCm39)	S1398P	possibly damaging	Het
Srcap	A	G	7: 127,127,604 (GRCm39)	K390E	probably damaging	Het
Sycp2	C	T	2: 178,019,843 (GRCm39)	E558K	probably benign	Het
Tcf20	T	C	15: 82,739,564 (GRCm39)	N629S	possibly damaging	Het
Tmem154	A	G	3: 84,591,537 (GRCm39)	Y29C	probably damaging	Het
Tmtc3	A	G	10: 100,282,987 (GRCm39)	I856T	probably benign	Het
Zswim6	A	G	13: 107,865,101 (GRCm39)		noncoding transcript	Het

Other mutations in Kera

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R4198:Kera	UTSW	10	97,448,835 (GRCm39)	makesense	probably null
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

Posted On

2014-01-21