Incidental Mutation 'R2309:Cldn24'
| ID |
244707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cldn24
|
| Ensembl Gene |
ENSMUSG00000061974 |
| Gene Name |
claudin 24 |
| Synonyms |
Gm10107 |
| MMRRC Submission |
040308-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
R2309 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
48275178-48275840 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 48275774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 199
(Y199*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078584
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038693]
[ENSMUST00000057561]
[ENSMUST00000079639]
|
| AlphaFold |
D3YXJ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038693
|
| SMART Domains |
Protein: ENSMUSP00000041676
Gene: ENSMUSG00000038064
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
7 |
183 |
6.2e-23 |
PFAM |
|
Pfam:Claudin_2
|
18 |
184 |
1.8e-9 |
PFAM |
|
low complexity region
|
185 |
197 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057561
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
11 |
43 |
3.92e-11 |
SMART |
|
WW
|
58 |
90 |
4.65e-4 |
SMART |
|
low complexity region
|
143 |
156 |
N/A |
INTRINSIC |
|
coiled coil region
|
162 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
223 |
254 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
|
coiled coil region
|
359 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
567 |
N/A |
INTRINSIC |
|
C2
|
713 |
818 |
5.29e0 |
SMART |
|
coiled coil region
|
857 |
884 |
N/A |
INTRINSIC |
|
coiled coil region
|
1067 |
1144 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000079639
AA Change: Y199*
|
| SMART Domains |
Protein: ENSMUSP00000078584
Gene: ENSMUSG00000061974
AA Change: Y199*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMP22_Claudin
|
7 |
183 |
9.1e-25 |
PFAM |
|
Pfam:Claudin_2
|
18 |
184 |
2.2e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212295
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the claudin family. Claudins are integral membrane proteins and components of tight junction strands. Tight junction strands serve as a physical barrier to prevent solutes and water from passing freely through the paracellular space between epithelial or endothelial cell sheets, and also play critical roles in maintaining cell polarity and signal transductions. The protein encoded by this gene is 75% identical to the human homolog. Similar to the human gene, this gene is upstream of the Cldn22 gene, which overlaps the Wwc2 gene on the opposite strand. [provided by RefSeq, Aug 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Add2 |
G |
T |
6: 86,073,783 (GRCm39) |
C224F |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,757,818 (GRCm39) |
I837M |
probably damaging |
Het |
| Baat |
T |
C |
4: 49,499,718 (GRCm39) |
Y196C |
probably damaging |
Het |
| Cd19 |
T |
C |
7: 126,013,447 (GRCm39) |
N114S |
probably benign |
Het |
| Il1rl1 |
A |
G |
1: 40,481,817 (GRCm39) |
D175G |
possibly damaging |
Het |
| Kcnh8 |
T |
A |
17: 53,285,067 (GRCm39) |
D1012E |
probably damaging |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Med23 |
T |
G |
10: 24,746,586 (GRCm39) |
D35E |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,455,638 (GRCm39) |
D2512G |
probably damaging |
Het |
| Nfatc4 |
A |
T |
14: 56,064,461 (GRCm39) |
D246V |
probably damaging |
Het |
| Nlrp9c |
C |
A |
7: 26,077,512 (GRCm39) |
V757F |
probably damaging |
Het |
| Or12e8 |
T |
C |
2: 87,188,298 (GRCm39) |
F170S |
probably damaging |
Het |
| Pcnt |
T |
A |
10: 76,278,460 (GRCm39) |
|
probably benign |
Het |
| Qsox2 |
T |
C |
2: 26,118,445 (GRCm39) |
I109V |
possibly damaging |
Het |
| Rnf17 |
A |
G |
14: 56,743,439 (GRCm39) |
K1335R |
possibly damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,438 (GRCm39) |
Y104H |
probably benign |
Het |
| Serpini2 |
A |
G |
3: 75,166,997 (GRCm39) |
S87P |
probably damaging |
Het |
| Setx |
G |
A |
2: 29,048,916 (GRCm39) |
V1981M |
probably damaging |
Het |
| Sgpp2 |
T |
C |
1: 78,393,986 (GRCm39) |
F330L |
probably damaging |
Het |
| Slc6a6 |
G |
C |
6: 91,703,177 (GRCm39) |
W183C |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,826,065 (GRCm39) |
K81E |
probably damaging |
Het |
| Ulbp1 |
G |
A |
10: 7,397,388 (GRCm39) |
T239I |
probably benign |
Het |
| Vmn1r230 |
A |
G |
17: 21,067,492 (GRCm39) |
H227R |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,096,283 (GRCm39) |
F1029I |
probably benign |
Het |
|
| Other mutations in Cldn24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2252:Cldn24
|
UTSW |
8 |
48,275,363 (GRCm39) |
missense |
probably benign |
0.44 |
|
R2253:Cldn24
|
UTSW |
8 |
48,275,363 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6265:Cldn24
|
UTSW |
8 |
48,275,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6818:Cldn24
|
UTSW |
8 |
48,275,757 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7688:Cldn24
|
UTSW |
8 |
48,275,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8891:Cldn24
|
UTSW |
8 |
48,275,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGTCATGGTGCTAGTTCC -3'
(R):5'- TTGGACAATCCCCAGCATAC -3'
Sequencing Primer
(F):5'- AGTCATGGTGCTAGTTCCTGTCTC -3'
(R):5'- TTTCCACACATAGCTATGCAATG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation