Incidental Mutation 'R8142:Marveld2'
ID 632600
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 067570-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8142 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 100732465-100753479 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100737448 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 424 (H424R)
Ref Sequence ENSEMBL: ENSMUSP00000022137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022137] [ENSMUST00000163163] [ENSMUST00000168772] [ENSMUST00000225754]
AlphaFold Q3UZP0
Predicted Effect possibly damaging
Transcript: ENSMUST00000022137
AA Change: H424R

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
AA Change: H424R

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 possibly damaging
Transcript: ENSMUST00000163163
AA Change: H147R

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000129990
Gene: ENSMUSG00000021636
AA Change: H147R

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 possibly damaging
Transcript: ENSMUST00000168772
AA Change: H424R

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
AA Change: H424R

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 possibly damaging
Transcript: ENSMUST00000225754
AA Change: H424R

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.5%
  • 10x: 98.0%
  • 20x: 91.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6v1e2 A T 17: 87,252,083 (GRCm39) I105N possibly damaging Het
Azi2 A G 9: 117,878,475 (GRCm39) D105G probably damaging Het
Bmpr2 T C 1: 59,909,465 (GRCm39) S980P probably damaging Het
Ccno T G 13: 113,125,489 (GRCm39) L151R probably damaging Het
Cdh2 A C 18: 16,734,791 (GRCm39) I801S probably benign Het
Cyp2f2 G A 7: 26,828,678 (GRCm39) V183I probably benign Het
Dab1 T A 4: 104,535,921 (GRCm39) V110D probably damaging Het
Dnah3 T C 7: 119,660,189 (GRCm39) T828A probably benign Het
Dnah5 G T 15: 28,384,519 (GRCm39) V3088L probably benign Het
Dtd2 T A 12: 52,046,593 (GRCm39) D82V probably damaging Het
Dusp5 T C 19: 53,525,912 (GRCm39) F185L probably damaging Het
Epha10 A G 4: 124,779,639 (GRCm39) T162A probably damaging Het
Fat4 A T 3: 38,945,352 (GRCm39) D1415V probably damaging Het
Fitm1 T C 14: 55,813,247 (GRCm39) Y37H possibly damaging Het
Flg2 G T 3: 93,122,782 (GRCm39) E1651* probably null Het
Ifit3 G T 19: 34,564,901 (GRCm39) C149F probably damaging Het
Lepr C A 4: 101,622,616 (GRCm39) H465Q possibly damaging Het
Ltn1 A C 16: 87,178,529 (GRCm39) S1567A probably benign Het
Marchf1 T C 8: 66,908,778 (GRCm39) V166A probably benign Het
Mypop A G 7: 18,735,051 (GRCm39) T383A unknown Het
Ngef G C 1: 87,468,463 (GRCm39) R99G probably benign Het
Nherf4 A G 9: 44,162,078 (GRCm39) probably null Het
Npepps G T 11: 97,109,398 (GRCm39) A726D probably damaging Het
Or6c63-ps1 T A 10: 128,900,519 (GRCm39) D9V probably benign Het
Pcdhgb4 A G 18: 37,854,166 (GRCm39) D187G probably damaging Het
Per2 T C 1: 91,349,269 (GRCm39) E1034G possibly damaging Het
Pira1 A G 7: 3,739,842 (GRCm39) S418P possibly damaging Het
Pkhd1l1 G A 15: 44,378,327 (GRCm39) R1027H probably benign Het
Pon2 A T 6: 5,266,239 (GRCm39) V260D probably benign Het
Rnase13 A G 14: 52,159,893 (GRCm39) I82T probably damaging Het
Sbno1 A G 5: 124,546,608 (GRCm39) S194P probably benign Het
Serpinb6c T A 13: 34,064,096 (GRCm39) I320L probably benign Het
Sh3rf3 C T 10: 58,885,205 (GRCm39) R363* probably null Het
Slc11a1 T C 1: 74,424,418 (GRCm39) F500L probably benign Het
Slc1a4 A G 11: 20,257,890 (GRCm39) probably null Het
Slc1a7 G A 4: 107,869,473 (GRCm39) V513M probably benign Het
Sorcs2 T C 5: 36,219,958 (GRCm39) N362S possibly damaging Het
Stau2 A G 1: 16,530,575 (GRCm39) S115P unknown Het
Stk38l A G 6: 146,660,070 (GRCm39) N34S probably benign Het
Tmem201 T C 4: 149,803,114 (GRCm39) T585A probably benign Het
Ttc6 A T 12: 57,744,258 (GRCm39) I1297F possibly damaging Het
Uncx A G 5: 139,532,655 (GRCm39) D240G possibly damaging Het
Vmn2r88 A G 14: 51,651,564 (GRCm39) I293V Het
Vps11 T C 9: 44,265,852 (GRCm39) T476A probably benign Het
Vrtn T C 12: 84,697,395 (GRCm39) L715P probably damaging Het
Wdr72 T G 9: 74,046,949 (GRCm39) V65G probably damaging Het
Zbtb21 T C 16: 97,752,675 (GRCm39) E536G probably damaging Het
Zbtb34 G T 2: 33,302,493 (GRCm39) S16* probably null Het
Zfhx2 G A 14: 55,310,895 (GRCm39) L600F possibly damaging Het
Other mutations in Marveld2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9063:Marveld2 UTSW 13 100,748,653 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- GAACTGGTAAAACTGGTCAGC -3'
(R):5'- AGGCTGCCTACGTTTCTATAGG -3'

Sequencing Primer
(F):5'- CTGGTAAAACTGGTCAGCTTACTGC -3'
(R):5'- TGATCGACAGAGGGATCAG -3'
Posted On 2020-06-30