Incidental Mutation 'IGL00565:Marveld2'
ID11910
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Marveld2
Ensembl Gene ENSMUSG00000021636
Gene NameMARVEL (membrane-associating) domain containing 2
SynonymsTric-b, Tricellulin, Tric, Mrvldc2, Tric-c, Tric-a
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00565
Quality Score
Status
Chromosome13
Chromosomal Location100595957-100616971 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 100600893 bp
ZygosityHeterozygous
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]
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

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 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

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
AA Change: V440M

PolyPhen 2 Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
AA Change: V440M

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
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,625,572 T233K possibly damaging Het
Adamts9 A T 6: 92,859,902 M623K possibly damaging Het
Arid1a T G 4: 133,685,482 D1467A unknown Het
Cdhr2 A G 13: 54,718,299 D304G probably damaging Het
Cenpj C T 14: 56,553,030 V521I probably benign Het
Csf2rb G T 15: 78,348,514 E674* probably null Het
Edaradd C T 13: 12,483,599 probably null Het
Emilin2 A G 17: 71,252,859 V1041A possibly damaging Het
Fam135b A G 15: 71,471,512 V418A probably benign Het
Fam96a A T 9: 66,132,616 I72L probably benign Het
Gnas T A 2: 174,341,711 probably benign Het
Grxcr1 A T 5: 68,032,197 N104Y possibly damaging Het
Gtf2a1l T A 17: 88,694,295 L146Q probably damaging Het
Hectd1 T A 12: 51,790,398 E791D probably damaging Het
Ifi203 A G 1: 173,937,740 probably null Het
Klk1b11 A G 7: 43,999,819 N260S probably damaging Het
Map4 A T 9: 110,072,604 probably benign Het
Med14 T C X: 12,746,764 probably benign Het
Mex3b A T 7: 82,868,908 I144F probably damaging Het
Oraov1 G T 7: 144,916,483 V50F probably damaging Het
Pde2a T A 7: 101,484,589 C92* probably null Het
Phf6 T A X: 52,931,639 Y103N probably damaging Het
Ptprt A G 2: 161,560,191 I1039T probably damaging Het
Rftn2 C A 1: 55,204,285 V275F probably damaging Het
Skap1 C A 11: 96,731,145 Q296K probably damaging Het
Skap1 T A 11: 96,731,190 F311I probably damaging Het
Tas2r115 A G 6: 132,737,778 I70T probably benign Het
Vav2 T C 2: 27,277,238 D613G probably benign Het
Wdr63 T C 3: 146,044,919 probably benign Het
Zranb3 T C 1: 128,016,140 E290G probably benign Het
Other mutations in Marveld2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Marveld2 APN 13 100597859 splice site probably benign
R1569:Marveld2 UTSW 13 100600998 missense probably benign 0.32
R1884:Marveld2 UTSW 13 100600621 missense probably benign 0.15
R1958:Marveld2 UTSW 13 100597350 missense probably damaging 1.00
R2249:Marveld2 UTSW 13 100612091 missense probably benign
R2258:Marveld2 UTSW 13 100612470 missense probably benign 0.00
R2259:Marveld2 UTSW 13 100612470 missense probably benign 0.00
R2260:Marveld2 UTSW 13 100612470 missense probably benign 0.00
R2473:Marveld2 UTSW 13 100597321 missense probably damaging 0.98
R3918:Marveld2 UTSW 13 100611893 missense probably benign 0.01
R4010:Marveld2 UTSW 13 100611428 splice site probably null
R4089:Marveld2 UTSW 13 100600480 missense probably benign 0.04
R4634:Marveld2 UTSW 13 100611939 missense probably damaging 1.00
R4775:Marveld2 UTSW 13 100616795 unclassified probably benign
R4961:Marveld2 UTSW 13 100611923 missense probably benign 0.12
R5424:Marveld2 UTSW 13 100612187 missense probably benign
R5546:Marveld2 UTSW 13 100600938 missense probably benign 0.14
R5900:Marveld2 UTSW 13 100611668 missense probably damaging 1.00
R5977:Marveld2 UTSW 13 100611689 missense possibly damaging 0.87
R6177:Marveld2 UTSW 13 100597378 missense probably damaging 0.99
R7409:Marveld2 UTSW 13 100611476 missense probably damaging 0.99
R7484:Marveld2 UTSW 13 100611560 missense probably damaging 1.00
Posted On2012-12-06