Incidental Mutation 'R2350:Cldn12'
ID |
246053 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cldn12
|
Ensembl Gene |
ENSMUSG00000046798 |
Gene Name |
claudin 12 |
Synonyms |
|
MMRRC Submission |
040332-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2350 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
5555015-5564976 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 5557845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 194
(V194D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136988
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060947]
[ENSMUST00000115445]
[ENSMUST00000115446]
[ENSMUST00000125110]
[ENSMUST00000179804]
|
AlphaFold |
Q9ET43 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060947
AA Change: V194D
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000061928 Gene: ENSMUSG00000046798 AA Change: V194D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
transmembrane domain
|
85 |
107 |
N/A |
INTRINSIC |
transmembrane domain
|
134 |
156 |
N/A |
INTRINSIC |
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115445
AA Change: V194D
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000111105 Gene: ENSMUSG00000046798 AA Change: V194D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
transmembrane domain
|
85 |
107 |
N/A |
INTRINSIC |
transmembrane domain
|
134 |
156 |
N/A |
INTRINSIC |
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115446
AA Change: V194D
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000111106 Gene: ENSMUSG00000046798 AA Change: V194D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
transmembrane domain
|
85 |
107 |
N/A |
INTRINSIC |
transmembrane domain
|
134 |
156 |
N/A |
INTRINSIC |
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125110
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134931
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179804
AA Change: V194D
PolyPhen 2
Score 0.552 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000136988 Gene: ENSMUSG00000046798 AA Change: V194D
Domain | Start | End | E-Value | Type |
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
transmembrane domain
|
85 |
107 |
N/A |
INTRINSIC |
transmembrane domain
|
134 |
156 |
N/A |
INTRINSIC |
transmembrane domain
|
176 |
198 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198303
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (40/40) |
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. This gene, along with several other family members, is expressed in the inner ear. The protein encoded by this gene and another family member, claudin 2, are critical for vitamin D-dependent Ca2+ absorption between enterocytes. Multiple alternatively spliced transcript variants encoding the same protein have been found. [provided by RefSeq, Oct 2011]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
C |
6: 121,655,047 (GRCm39) |
|
probably benign |
Het |
Adam12 |
T |
C |
7: 133,521,253 (GRCm39) |
T312A |
probably damaging |
Het |
Adamts20 |
C |
T |
15: 94,181,797 (GRCm39) |
C1632Y |
probably damaging |
Het |
Ago2 |
T |
C |
15: 72,991,310 (GRCm39) |
M543V |
probably benign |
Het |
Alpk3 |
T |
C |
7: 80,744,718 (GRCm39) |
L1271P |
probably damaging |
Het |
Arpin |
T |
A |
7: 79,581,553 (GRCm39) |
K56* |
probably null |
Het |
Ccdc138 |
G |
T |
10: 58,397,715 (GRCm39) |
|
probably benign |
Het |
Ccdc63 |
A |
T |
5: 122,260,948 (GRCm39) |
M192K |
probably benign |
Het |
Cntnap5b |
T |
C |
1: 100,306,851 (GRCm39) |
L485P |
probably damaging |
Het |
Cpne7 |
A |
G |
8: 123,851,208 (GRCm39) |
D165G |
probably damaging |
Het |
Cyp2j6 |
A |
T |
4: 96,417,645 (GRCm39) |
M326K |
probably damaging |
Het |
D630003M21Rik |
T |
A |
2: 158,042,931 (GRCm39) |
T870S |
probably damaging |
Het |
Dennd2c |
A |
G |
3: 103,039,317 (GRCm39) |
D155G |
probably benign |
Het |
Dnah3 |
A |
T |
7: 119,645,011 (GRCm39) |
|
probably null |
Het |
Dqx1 |
T |
A |
6: 83,036,068 (GRCm39) |
C133* |
probably null |
Het |
Fam234b |
T |
A |
6: 135,208,722 (GRCm39) |
V545E |
probably damaging |
Het |
Flcn |
T |
C |
11: 59,683,485 (GRCm39) |
H564R |
probably damaging |
Het |
Gsdmc4 |
T |
A |
15: 63,765,014 (GRCm39) |
H348L |
probably benign |
Het |
Gucy2c |
G |
T |
6: 136,740,072 (GRCm39) |
P252T |
probably damaging |
Het |
Insl6 |
T |
A |
19: 29,302,645 (GRCm39) |
E24V |
possibly damaging |
Het |
Irx1 |
T |
A |
13: 72,108,167 (GRCm39) |
T172S |
probably damaging |
Het |
Mocos |
C |
T |
18: 24,799,713 (GRCm39) |
|
probably benign |
Het |
Myom2 |
T |
C |
8: 15,158,835 (GRCm39) |
V837A |
probably benign |
Het |
Nfatc2ip |
T |
C |
7: 125,995,170 (GRCm39) |
N126S |
probably benign |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Npepl1 |
T |
C |
2: 173,953,566 (GRCm39) |
S166P |
probably benign |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Or7d11 |
G |
T |
9: 19,966,384 (GRCm39) |
A125D |
probably damaging |
Het |
Otop2 |
T |
G |
11: 115,217,676 (GRCm39) |
C171G |
probably damaging |
Het |
Parpbp |
C |
A |
10: 87,968,950 (GRCm39) |
|
probably benign |
Het |
Pcdhb20 |
T |
A |
18: 37,637,563 (GRCm39) |
S30T |
probably benign |
Het |
Phkg1 |
A |
T |
5: 129,893,373 (GRCm39) |
V359E |
probably damaging |
Het |
Ppp2cb |
A |
G |
8: 34,101,855 (GRCm39) |
D131G |
probably null |
Het |
Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
Unc5b |
A |
G |
10: 60,613,979 (GRCm39) |
F290S |
probably benign |
Het |
Vmn1r71 |
A |
G |
7: 10,481,846 (GRCm39) |
F215L |
probably benign |
Het |
Vmn2r101 |
T |
C |
17: 19,810,045 (GRCm39) |
V277A |
probably benign |
Het |
Vmn2r6 |
T |
C |
3: 64,463,773 (GRCm39) |
S354G |
probably benign |
Het |
Zfp292 |
A |
T |
4: 34,811,281 (GRCm39) |
S588T |
probably damaging |
Het |
|
Other mutations in Cldn12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL03323:Cldn12
|
APN |
5 |
5,558,421 (GRCm39) |
missense |
probably damaging |
1.00 |
lame
|
UTSW |
5 |
5,558,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R1499:Cldn12
|
UTSW |
5 |
5,557,900 (GRCm39) |
missense |
probably benign |
0.28 |
R1971:Cldn12
|
UTSW |
5 |
5,558,137 (GRCm39) |
missense |
probably benign |
0.16 |
R4450:Cldn12
|
UTSW |
5 |
5,558,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R4665:Cldn12
|
UTSW |
5 |
5,558,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R4724:Cldn12
|
UTSW |
5 |
5,558,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R4725:Cldn12
|
UTSW |
5 |
5,558,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R4728:Cldn12
|
UTSW |
5 |
5,558,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R6961:Cldn12
|
UTSW |
5 |
5,557,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R7485:Cldn12
|
UTSW |
5 |
5,558,008 (GRCm39) |
missense |
probably benign |
0.06 |
R7857:Cldn12
|
UTSW |
5 |
5,558,209 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCTGTGAGGCTACAAGACATCC -3'
(R):5'- TCAATAGTGCAGGCTGCCAC -3'
Sequencing Primer
(F):5'- GTGAGGCTACAAGACATCCTTTGAAC -3'
(R):5'- ACCTGGTGGCCGGACTC -3'
|
Posted On |
2014-10-30 |