Incidental Mutation 'R2365:Kera'
ID 246301
Institutional Source Beutler Lab
Gene Symbol Kera
Ensembl Gene ENSMUSG00000019932
Gene Name keratocan
Synonyms CNA2, SLRR2B
MMRRC Submission 040346-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2365 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 97442873-97449555 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 97444805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 55 (T55A)
Ref Sequence ENSEMBL: ENSMUSP00000100923 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105286]
AlphaFold O35367
Predicted Effect probably benign
Transcript: ENSMUST00000105286
AA Change: T55A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000100923
Gene: ENSMUSG00000019932
AA Change: T55A

DomainStartEndE-ValueType
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 0.1410 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.9%
Validation Efficiency 94% (34/36)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a5 T A 16: 29,070,008 (GRCm39) K959N probably benign Het
C4b G A 17: 34,955,032 (GRCm39) probably benign Het
Cdhr2 T G 13: 54,865,901 (GRCm39) S268R probably benign Het
Erc1 A G 6: 119,552,656 (GRCm39) L1094P probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Fat4 A G 3: 39,034,568 (GRCm39) H2740R probably benign Het
Galnt13 A G 2: 54,744,709 (GRCm39) Y136C possibly damaging Het
Gipc2 A G 3: 151,833,831 (GRCm39) I150T possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm21957 T C 7: 124,818,629 (GRCm39) noncoding transcript Het
Gm5591 T A 7: 38,218,825 (GRCm39) R683W probably damaging Het
Gm826 A G 2: 160,169,130 (GRCm39) S60P unknown Het
Hsd17b7 T C 1: 169,792,009 (GRCm39) D133G probably damaging Het
Mff T C 1: 82,713,192 (GRCm39) V129A possibly damaging Het
Myo7b A G 18: 32,147,384 (GRCm39) L53P probably damaging Het
Neo1 A G 9: 58,863,286 (GRCm39) V427A probably benign Het
Or10ak7 C T 4: 118,791,230 (GRCm39) E272K probably benign Het
Or52e19 A T 7: 102,959,380 (GRCm39) I151L probably benign Het
Pfkfb3 C T 2: 11,498,713 (GRCm39) probably null Het
Pom121l2 A G 13: 22,167,954 (GRCm39) T742A probably benign Het
Pon1 A G 6: 5,171,746 (GRCm39) S302P probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Sall3 G C 18: 81,015,007 (GRCm39) P974A probably benign Het
Slc1a2 T A 2: 102,578,798 (GRCm39) probably null Het
Slc22a6 A G 19: 8,596,761 (GRCm39) T180A probably benign Het
Slc40a1 T C 1: 45,963,873 (GRCm39) probably null Het
Slc6a5 T C 7: 49,596,284 (GRCm39) S585P possibly damaging Het
Tbpl1 A G 10: 22,581,785 (GRCm39) V164A possibly damaging Het
Tmem98 A T 11: 80,706,511 (GRCm39) I95F probably damaging Het
Ush2a C A 1: 188,111,188 (GRCm39) P571T possibly damaging Het
Vars1 A G 17: 35,234,428 (GRCm39) N1125D probably benign Het
Vps13d T C 4: 144,813,894 (GRCm39) probably benign Het
Zbtb18 A T 1: 177,275,723 (GRCm39) E361V probably benign Het
Zc3hav1 A G 6: 38,317,168 (GRCm39) F144S probably damaging Het
Other mutations in Kera
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- CACAGGTGCTGTAATGGCAAC -3'
(R):5'- GCTCATTGTCTTCAAGAAACAGG -3'

Sequencing Primer
(F):5'- ACCCCAAACTGTTTAATACTCTGGG -3'
(R):5'- AAGAAGTTTCTTTAGCTGGCTCAG -3'
Posted On 2014-10-30