Incidental Mutation 'IGL00565:Marveld2'
| ID |
11910 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Marveld2
|
| Ensembl Gene |
ENSMUSG00000021636 |
| Gene Name |
MARVEL (membrane-associating) domain containing 2 |
| Synonyms |
Tric, Tric-a, Tric-b, Tric-c, Tricellulin, Mrvldc2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00565
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
100732465-100753479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100737401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 163
(V163M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129990
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022137]
[ENSMUST00000163163]
[ENSMUST00000168772]
[ENSMUST00000225754]
|
| AlphaFold |
Q3UZP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022137
AA Change: V440M
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
AA Change: V440M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
182 |
358 |
4.1e-20 |
PFAM |
|
low complexity region
|
423 |
434 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
443 |
545 |
2.7e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083744
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163163
AA Change: V163M
PolyPhen 2
Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129990
Gene: ENSMUSG00000021636
AA Change: V163M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
146 |
157 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
166 |
268 |
4.2e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168772
AA Change: V440M
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
AA Change: V440M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
Pfam:MARVEL
|
182 |
358 |
3.6e-20 |
PFAM |
|
low complexity region
|
423 |
434 |
N/A |
INTRINSIC |
|
Pfam:Occludin_ELL
|
443 |
545 |
6.6e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225754
AA Change: V440M
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
|
| 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 membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-in mutation fisplay syndromic deafness with rapid progressive degeneration of the hair cells, increased body and organ weights and abnormal tricellular tight junctions. However, vestibular function is intact. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
C |
A |
7: 41,274,996 (GRCm39) |
T233K |
possibly damaging |
Het |
| Adamts9 |
A |
T |
6: 92,836,883 (GRCm39) |
M623K |
possibly damaging |
Het |
| Arid1a |
T |
G |
4: 133,412,793 (GRCm39) |
D1467A |
unknown |
Het |
| Cdhr2 |
A |
G |
13: 54,866,112 (GRCm39) |
D304G |
probably damaging |
Het |
| Cenpj |
C |
T |
14: 56,790,487 (GRCm39) |
V521I |
probably benign |
Het |
| Ciao2a |
A |
T |
9: 66,039,898 (GRCm39) |
I72L |
probably benign |
Het |
| Csf2rb |
G |
T |
15: 78,232,714 (GRCm39) |
E674* |
probably null |
Het |
| Dnai3 |
T |
C |
3: 145,750,674 (GRCm39) |
|
probably benign |
Het |
| Edaradd |
C |
T |
13: 12,498,480 (GRCm39) |
|
probably null |
Het |
| Emilin2 |
A |
G |
17: 71,559,854 (GRCm39) |
V1041A |
possibly damaging |
Het |
| Fam135b |
A |
G |
15: 71,343,361 (GRCm39) |
V418A |
probably benign |
Het |
| Gnas |
T |
A |
2: 174,183,504 (GRCm39) |
|
probably benign |
Het |
| Grxcr1 |
A |
T |
5: 68,189,540 (GRCm39) |
N104Y |
possibly damaging |
Het |
| Gtf2a1l |
T |
A |
17: 89,001,723 (GRCm39) |
L146Q |
probably damaging |
Het |
| Hectd1 |
T |
A |
12: 51,837,181 (GRCm39) |
E791D |
probably damaging |
Het |
| Ifi203 |
A |
G |
1: 173,765,306 (GRCm39) |
|
probably null |
Het |
| Klk1b11 |
A |
G |
7: 43,649,243 (GRCm39) |
N260S |
probably damaging |
Het |
| LTO1 |
G |
T |
7: 144,470,220 (GRCm39) |
V50F |
probably damaging |
Het |
| Map4 |
A |
T |
9: 109,901,672 (GRCm39) |
|
probably benign |
Het |
| Med14 |
T |
C |
X: 12,613,003 (GRCm39) |
|
probably benign |
Het |
| Mex3b |
A |
T |
7: 82,518,116 (GRCm39) |
I144F |
probably damaging |
Het |
| Pde2a |
T |
A |
7: 101,133,796 (GRCm39) |
C92* |
probably null |
Het |
| Phf6 |
T |
A |
X: 52,020,516 (GRCm39) |
Y103N |
probably damaging |
Het |
| Ptprt |
A |
G |
2: 161,402,111 (GRCm39) |
I1039T |
probably damaging |
Het |
| Rftn2 |
C |
A |
1: 55,243,444 (GRCm39) |
V275F |
probably damaging |
Het |
| Skap1 |
C |
A |
11: 96,621,971 (GRCm39) |
Q296K |
probably damaging |
Het |
| Skap1 |
T |
A |
11: 96,622,016 (GRCm39) |
F311I |
probably damaging |
Het |
| Tas2r115 |
A |
G |
6: 132,714,741 (GRCm39) |
I70T |
probably benign |
Het |
| Vav2 |
T |
C |
2: 27,167,250 (GRCm39) |
D613G |
probably benign |
Het |
| Zranb3 |
T |
C |
1: 127,943,877 (GRCm39) |
E290G |
probably benign |
Het |
|
| Other mutations in Marveld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00573:Marveld2
|
APN |
13 |
100,734,367 (GRCm39) |
splice site |
probably benign |
|
|
R1569:Marveld2
|
UTSW |
13 |
100,737,506 (GRCm39) |
missense |
probably benign |
0.32 |
|
R1884:Marveld2
|
UTSW |
13 |
100,737,129 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1958:Marveld2
|
UTSW |
13 |
100,733,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2249:Marveld2
|
UTSW |
13 |
100,748,599 (GRCm39) |
missense |
probably benign |
|
|
R2258:Marveld2
|
UTSW |
13 |
100,748,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2259:Marveld2
|
UTSW |
13 |
100,748,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2260:Marveld2
|
UTSW |
13 |
100,748,978 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2473:Marveld2
|
UTSW |
13 |
100,733,829 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3918:Marveld2
|
UTSW |
13 |
100,748,401 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4010:Marveld2
|
UTSW |
13 |
100,747,936 (GRCm39) |
splice site |
probably null |
|
|
R4089:Marveld2
|
UTSW |
13 |
100,736,988 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4634:Marveld2
|
UTSW |
13 |
100,748,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4775:Marveld2
|
UTSW |
13 |
100,753,303 (GRCm39) |
unclassified |
probably benign |
|
|
R4961:Marveld2
|
UTSW |
13 |
100,748,431 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5424:Marveld2
|
UTSW |
13 |
100,748,695 (GRCm39) |
missense |
probably benign |
|
|
R5546:Marveld2
|
UTSW |
13 |
100,737,446 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5900:Marveld2
|
UTSW |
13 |
100,748,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5977:Marveld2
|
UTSW |
13 |
100,748,197 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6177:Marveld2
|
UTSW |
13 |
100,733,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7409:Marveld2
|
UTSW |
13 |
100,747,984 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7484:Marveld2
|
UTSW |
13 |
100,748,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8142:Marveld2
|
UTSW |
13 |
100,737,448 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9063:Marveld2
|
UTSW |
13 |
100,748,653 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation