Incidental Mutation 'R3918:Marveld2'
| ID |
307518 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Marveld2
|
| Ensembl Gene |
ENSMUSG00000021636 |
| Gene Name |
MARVEL (membrane-associating) domain containing 2 |
| Synonyms |
Tric, Tric-a, Tric-b, Tric-c, Tricellulin, Mrvldc2 |
| MMRRC Submission |
040816-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3918 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
100732465-100753479 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 100748401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 226
(Q226R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022137]
[ENSMUST00000163163]
[ENSMUST00000168772]
[ENSMUST00000225754]
|
| AlphaFold |
Q3UZP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022137
AA Change: Q226R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
AA Change: Q226R
| 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 |
probably benign
Transcript: ENSMUST00000163163
|
| SMART Domains |
Protein: ENSMUSP00000129990
Gene: ENSMUSG00000021636
| 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: Q226R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
AA Change: Q226R
| 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: Q226R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.7%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
C |
8: 111,766,774 (GRCm39) |
I52T |
probably damaging |
Het |
| Adhfe1 |
G |
A |
1: 9,646,441 (GRCm39) |
R447H |
probably damaging |
Het |
| Ak7 |
A |
G |
12: 105,676,515 (GRCm39) |
K72E |
probably benign |
Het |
| Best2 |
T |
G |
8: 85,736,353 (GRCm39) |
D270A |
probably damaging |
Het |
| Brinp3 |
C |
A |
1: 146,627,599 (GRCm39) |
D277E |
probably damaging |
Het |
| Col18a1 |
T |
C |
10: 76,889,192 (GRCm39) |
M1721V |
probably benign |
Het |
| Ctnnal1 |
T |
C |
4: 56,865,000 (GRCm39) |
T39A |
possibly damaging |
Het |
| Dnah9 |
T |
A |
11: 65,761,800 (GRCm39) |
M3897L |
possibly damaging |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Egf |
T |
C |
3: 129,490,509 (GRCm39) |
I395V |
probably null |
Het |
| Fbln5 |
C |
T |
12: 101,717,050 (GRCm39) |
G446D |
probably damaging |
Het |
| Gprc6a |
CAAA |
CA |
10: 51,491,776 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
G |
C |
1: 150,566,361 (GRCm39) |
T2214S |
probably benign |
Het |
| Lef1 |
A |
G |
3: 130,905,290 (GRCm39) |
N57S |
probably damaging |
Het |
| Lpin1 |
A |
G |
12: 16,621,190 (GRCm39) |
S266P |
probably benign |
Het |
| Mest |
G |
A |
6: 30,742,749 (GRCm39) |
S132N |
probably benign |
Het |
| Mras |
T |
A |
9: 99,293,473 (GRCm39) |
I56F |
probably damaging |
Het |
| Myh13 |
G |
A |
11: 67,220,064 (GRCm39) |
E138K |
probably benign |
Het |
| Nsun2 |
A |
G |
13: 69,778,799 (GRCm39) |
T516A |
probably damaging |
Het |
| Ola1 |
A |
G |
2: 72,972,683 (GRCm39) |
V200A |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,261,074 (GRCm39) |
V33D |
possibly damaging |
Het |
| Patj |
C |
A |
4: 98,344,455 (GRCm39) |
P20H |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,570,101 (GRCm39) |
W416R |
probably benign |
Het |
| Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
| Pola1 |
C |
A |
X: 92,505,078 (GRCm39) |
R1313L |
probably benign |
Het |
| Ppp1r36 |
G |
A |
12: 76,464,431 (GRCm39) |
V10I |
probably benign |
Het |
| Rnf150 |
C |
T |
8: 83,591,090 (GRCm39) |
T151I |
probably benign |
Het |
| Tank |
G |
T |
2: 61,474,130 (GRCm39) |
|
probably null |
Het |
| Tmprss4 |
C |
T |
9: 45,091,964 (GRCm39) |
V174M |
probably benign |
Het |
| Trappc13 |
T |
C |
13: 104,297,590 (GRCm39) |
T105A |
probably damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,838 (GRCm39) |
S1066P |
probably damaging |
Het |
| Txndc9 |
G |
A |
1: 38,033,131 (GRCm39) |
Q84* |
probably null |
Het |
| Ubr3 |
A |
T |
2: 69,846,474 (GRCm39) |
|
probably null |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zfp51 |
A |
G |
17: 21,683,702 (GRCm39) |
K106E |
probably benign |
Het |
|
| Other mutations in Marveld2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00565:Marveld2
|
APN |
13 |
100,737,401 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACCAGTTAGAGTCCAAAAGG -3'
(R):5'- CGACCCCTATGCATCCTTAGAC -3'
Sequencing Primer
(F):5'- TCCAAAAGGATGGTGCGGTAATAC -3'
(R):5'- TATGCATCCTTAGACCGGCG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation