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)
|
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
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 |
0.1410 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |