Incidental Mutation 'R6496:Kera'
ID |
523029 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kera
|
Ensembl Gene |
ENSMUSG00000019932 |
Gene Name |
keratocan |
Synonyms |
CNA2, SLRR2B |
MMRRC Submission |
044628-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6496 (G1)
|
Quality Score |
171.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
97442873-97449555 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 97448672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 297
(N297K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000100923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105286]
|
AlphaFold |
O35367 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000105286
AA Change: N297K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000100923 Gene: ENSMUSG00000019932 AA Change: N297K
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.7%
|
Validation Efficiency |
100% (36/36) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921504E06Rik |
T |
A |
2: 19,545,217 (GRCm39) |
T79S |
probably benign |
Het |
Atp2b1 |
T |
A |
10: 98,839,199 (GRCm39) |
C676S |
probably damaging |
Het |
Atp8b5 |
T |
C |
4: 43,371,003 (GRCm39) |
F1047L |
probably benign |
Het |
B3gnt4 |
G |
A |
5: 123,649,654 (GRCm39) |
E340K |
probably benign |
Het |
Casp8ap2 |
A |
C |
4: 32,641,553 (GRCm39) |
H869P |
probably benign |
Het |
Cdh26 |
G |
A |
2: 178,091,654 (GRCm39) |
G71D |
probably damaging |
Het |
Col4a2 |
G |
T |
8: 11,452,993 (GRCm39) |
G187* |
probably null |
Het |
Col4a2 |
G |
T |
8: 11,452,994 (GRCm39) |
G187V |
probably damaging |
Het |
Dsn1 |
A |
G |
2: 156,847,187 (GRCm39) |
S84P |
probably damaging |
Het |
Edaradd |
T |
A |
13: 12,493,323 (GRCm39) |
D123V |
probably damaging |
Het |
Epb41l1 |
T |
C |
2: 156,375,716 (GRCm39) |
S611P |
possibly damaging |
Het |
Fam217a |
G |
A |
13: 35,094,785 (GRCm39) |
R234* |
probably null |
Het |
Gm17175 |
A |
G |
14: 51,810,534 (GRCm39) |
I31T |
probably benign |
Het |
Jtb |
T |
C |
3: 90,141,264 (GRCm39) |
V80A |
possibly damaging |
Het |
Klhl1 |
T |
C |
14: 96,477,652 (GRCm39) |
N472S |
probably benign |
Het |
Lgmn |
T |
C |
12: 102,364,498 (GRCm39) |
T324A |
probably benign |
Het |
Ndst3 |
A |
G |
3: 123,346,201 (GRCm39) |
I276T |
probably damaging |
Het |
Nsd2 |
A |
G |
5: 34,000,857 (GRCm39) |
K125E |
probably damaging |
Het |
Or10ag59 |
A |
C |
2: 87,405,460 (GRCm39) |
N11H |
probably damaging |
Het |
Or6c33 |
T |
A |
10: 129,853,448 (GRCm39) |
S73T |
probably benign |
Het |
Patj |
C |
A |
4: 98,304,989 (GRCm39) |
A281E |
probably damaging |
Het |
Pcdha7 |
A |
G |
18: 37,107,638 (GRCm39) |
E221G |
possibly damaging |
Het |
Plcd1 |
A |
G |
9: 118,901,709 (GRCm39) |
F605S |
possibly damaging |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Pmfbp1 |
A |
G |
8: 110,258,789 (GRCm39) |
K698R |
probably null |
Het |
Potefam1 |
T |
A |
2: 110,994,817 (GRCm39) |
H232L |
unknown |
Het |
Psd |
G |
A |
19: 46,308,753 (GRCm39) |
R628C |
probably damaging |
Het |
Sipa1l2 |
T |
C |
8: 126,176,633 (GRCm39) |
N1211S |
probably benign |
Het |
Slc1a3 |
T |
A |
15: 8,679,065 (GRCm39) |
M177L |
probably benign |
Het |
Slc34a1 |
T |
C |
13: 55,550,495 (GRCm39) |
S183P |
probably benign |
Het |
Spata22 |
G |
A |
11: 73,231,189 (GRCm39) |
G148R |
probably damaging |
Het |
Spata31f1a |
G |
T |
4: 42,848,424 (GRCm39) |
T1244K |
probably damaging |
Het |
Tfap2a |
T |
C |
13: 40,882,251 (GRCm39) |
D18G |
probably damaging |
Het |
Thoc7 |
T |
C |
14: 13,954,593 (GRCm38) |
N28S |
possibly damaging |
Het |
Usp42 |
T |
C |
5: 143,700,858 (GRCm39) |
Y1055C |
probably damaging |
Het |
Zfp874a |
A |
G |
13: 67,590,694 (GRCm39) |
V330A |
possibly 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 |
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 |
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'- CACAAGGAGCTGTTAGTTCAAC -3'
(R):5'- CCTTAAACCAGTTTGGGTTCTG -3'
Sequencing Primer
(F):5'- GAGCTGTTAGTTCAACATCCTTTCAG -3'
(R):5'- GGGTTCTGTCTTATATTATGAAAGCC -3'
|
Posted On |
2018-06-06 |