Incidental Mutation 'R1309:Kera'
| ID |
157883 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kera
|
| Ensembl Gene |
ENSMUSG00000019932 |
| Gene Name |
keratocan |
| Synonyms |
CNA2, SLRR2B |
| MMRRC Submission |
039375-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1309 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
97442873-97449555 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97445288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 216
(T216A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000105286]
|
| AlphaFold |
O35367 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105286
AA Change: T216A
PolyPhen 2
Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000100923
Gene: ENSMUSG00000019932
AA Change: T216A
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.9%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Angptl2 |
G |
A |
2: 33,136,140 (GRCm39) |
A442T |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,713,163 (GRCm39) |
I709V |
possibly damaging |
Het |
| Asb2 |
A |
G |
12: 103,291,667 (GRCm39) |
V372A |
probably benign |
Het |
| Ccm2l |
A |
T |
2: 152,912,844 (GRCm39) |
I129F |
probably damaging |
Het |
| Cdkal1 |
T |
A |
13: 29,541,566 (GRCm39) |
I433F |
possibly damaging |
Het |
| Cpsf7 |
T |
C |
19: 10,510,831 (GRCm39) |
|
probably null |
Het |
| Dhx37 |
C |
T |
5: 125,494,502 (GRCm39) |
W944* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,115,610 (GRCm39) |
L939P |
probably damaging |
Het |
| Lmnb1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
18: 56,872,976 (GRCm39) |
|
probably null |
Het |
| Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
| Prep |
A |
G |
10: 45,002,122 (GRCm39) |
T426A |
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,570,599 (GRCm39) |
|
probably null |
Het |
| Spag6 |
A |
G |
2: 18,739,027 (GRCm39) |
Y319C |
probably damaging |
Het |
| Stk24 |
A |
G |
14: 121,540,198 (GRCm39) |
Y134H |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,937,512 (GRCm39) |
I1179V |
probably benign |
Het |
| Tedc1 |
A |
G |
12: 113,125,400 (GRCm39) |
E274G |
probably benign |
Het |
| Zswim2 |
A |
T |
2: 83,769,100 (GRCm39) |
F87Y |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCTCAGGGGACCTTCAGTAATC -3'
(R):5'- TGCTATTCCTACACAGGGCAGAGAC -3'
Sequencing Primer
(F):5'- GACCTTCAGTAATCTGGAAAACCTG -3'
(R):5'- GGTCACAGGCACATCTTTATG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation