Incidental Mutation 'IGL00573:Marveld2'
ID 4251
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) question?
Stock # IGL00573
Quality Score
Status
Chromosome 13
Chromosomal Location 100732465-100753479 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 100734367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636

DomainStartEndE-ValueType
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
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,877,704 (GRCm39) D687G probably benign Het
Cd69 C A 6: 129,245,283 (GRCm39) V140F probably damaging Het
Cep290 C T 10: 100,376,223 (GRCm39) P1437L probably damaging Het
Chd4 T C 6: 125,086,860 (GRCm39) Y1023H probably damaging Het
Col6a4 T A 9: 105,900,095 (GRCm39) Y1676F probably benign Het
Ctnna2 A C 6: 76,879,264 (GRCm39) probably benign Het
Cwf19l2 T C 9: 3,450,161 (GRCm39) probably benign Het
Fbln1 A T 15: 85,111,238 (GRCm39) M131L probably benign Het
Flcn A G 11: 59,686,649 (GRCm39) V368A probably damaging Het
Mcm8 A G 2: 132,674,732 (GRCm39) Y400C possibly damaging Het
Mdn1 T C 4: 32,666,619 (GRCm39) probably null Het
Nedd4 T A 9: 72,593,338 (GRCm39) probably null Het
Nlrp3 C T 11: 59,455,942 (GRCm39) H913Y possibly damaging Het
Pkd1 G T 17: 24,813,504 (GRCm39) E4015* probably null Het
Plscr1 C T 9: 92,146,732 (GRCm39) L125F probably benign Het
Trim30c T A 7: 104,031,838 (GRCm39) I326L possibly damaging Het
Tsga10 T C 1: 37,846,151 (GRCm39) D325G probably damaging Het
Tubgcp4 A G 2: 121,009,182 (GRCm39) Y158C probably damaging Het
Zbtb40 G A 4: 136,745,389 (GRCm39) P215S probably benign Het
Zfp568 A T 7: 29,721,865 (GRCm39) H269L possibly damaging Het
Zmynd11 T G 13: 9,739,262 (GRCm39) E510A probably damaging Het
Other mutations in Marveld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00565:Marveld2 APN 13 100,737,401 (GRCm39) missense possibly damaging 0.83
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 2012-04-20