Mutagenetix > Incidental Mutation

Incidental Mutation 'R5424:Marveld2'

426774

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

042990-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100732465-100753479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100748695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 128 (H128R)

Ref Sequence

ENSEMBL: ENSMUSP00000153294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022136] [ENSMUST00000022137] [ENSMUST00000163163] [ENSMUST00000168772] [ENSMUST00000225754]

AlphaFold

Q3UZP0

Predicted Effect

probably benign
Transcript: ENSMUST00000022136

SMART Domains

Protein: ENSMUSP00000022136
Gene: ENSMUSG00000021635

Domain	Start	End	E-Value	Type
low complexity region	30	39	N/A	INTRINSIC
AAA	128	280	1.1e-4	SMART
low complexity region	342	355	N/A	INTRINSIC
low complexity region	552	567	N/A	INTRINSIC
low complexity region	619	635	N/A	INTRINSIC
low complexity region	669	687	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000022137
AA Change: H128R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
AA Change: H128R

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: H128R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
AA Change: H128R

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: H128R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (59/59)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	A	1: 130,670,678 (GRCm39)	A300D	probably damaging	Het
Abca14	T	C	7: 119,810,777 (GRCm39)	Y119H	probably benign	Het
Actb	A	G	5: 142,891,306 (GRCm39)		probably benign	Het
Ada	T	A	2: 163,570,045 (GRCm39)	K323*	probably null	Het
Adam22	C	A	5: 8,140,182 (GRCm39)	G202W	probably damaging	Het
Aire	A	T	10: 77,872,553 (GRCm39)	V355E	probably damaging	Het
Atp8a1	T	C	5: 67,969,443 (GRCm39)	I117M	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Clca3a2	A	G	3: 144,789,942 (GRCm39)	F465L	probably damaging	Het
Cpne8	T	A	15: 90,400,260 (GRCm39)	M345L	probably benign	Het
Ddx54	T	C	5: 120,757,926 (GRCm39)		probably null	Het
Dnah14	T	G	1: 181,590,875 (GRCm39)	M3256R	possibly damaging	Het
Epha2	T	A	4: 141,046,251 (GRCm39)	Y483*	probably null	Het
Ermard	T	A	17: 15,280,032 (GRCm39)	S509T	possibly damaging	Het
Fam186a	G	T	15: 99,843,644 (GRCm39)	H867N	unknown	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gas8	C	A	8: 124,253,251 (GRCm39)	L200I	possibly damaging	Het
Gfra2	A	T	14: 71,133,287 (GRCm39)	D39V	probably damaging	Het
Gm10770	T	C	2: 150,020,948 (GRCm39)	T190A	probably benign	Het
Gm2617	T	C	19: 9,301,320 (GRCm39)		noncoding transcript	Het
Gm5592	C	T	7: 40,805,017 (GRCm39)		probably benign	Het
Gmppb	T	A	9: 107,929,204 (GRCm39)		probably null	Het
Ifit2	T	A	19: 34,551,458 (GRCm39)	C333S	probably benign	Het
Ighg2b	T	C	12: 113,271,550 (GRCm39)	K1R	unknown	Het
Impdh2-ps	G	T	8: 100,758,141 (GRCm39)		noncoding transcript	Het
Kdelr2	A	C	5: 143,403,899 (GRCm39)	E96A	probably benign	Het
Lama2	G	A	10: 26,860,392 (GRCm39)	R3032C	probably damaging	Het
Lipg	T	A	18: 75,087,324 (GRCm39)	I166F	probably damaging	Het
Lrrc8b	T	C	5: 105,628,569 (GRCm39)	V305A	probably damaging	Het
Mgat4a	A	G	1: 37,505,636 (GRCm39)	V189A	probably benign	Het
Mroh2b	A	T	15: 4,971,094 (GRCm39)	E1033V	probably damaging	Het
Mtmr7	A	G	8: 41,059,873 (GRCm39)	V80A	probably benign	Het
Ndrg2	A	G	14: 52,146,342 (GRCm39)	S153P	probably damaging	Het
Nelfa	C	T	5: 34,079,189 (GRCm39)		probably null	Het
Nes	G	T	3: 87,886,131 (GRCm39)	E1419D	possibly damaging	Het
Nipa1	C	A	7: 55,629,223 (GRCm39)	V297L	possibly damaging	Het
Obox5	T	A	7: 15,492,807 (GRCm39)	I254K	probably benign	Het
Or56b35	T	C	7: 104,963,778 (GRCm39)	V189A	possibly damaging	Het
Or8k24	G	A	2: 86,216,184 (GRCm39)	Q193*	probably null	Het
Pcdhga7	G	A	18: 37,848,388 (GRCm39)	A132T	probably benign	Het
Pla1a	T	A	16: 38,235,137 (GRCm39)	I186F	probably damaging	Het
Plscr4	T	A	9: 92,372,075 (GRCm39)	M282K	possibly damaging	Het
Rpl22l1	T	C	3: 28,861,047 (GRCm39)		probably benign	Het
Scn5a	T	C	9: 119,330,800 (GRCm39)	D1246G	probably damaging	Het
Senp7	A	G	16: 56,006,471 (GRCm39)	S932G	possibly damaging	Het
Slc51a	C	A	16: 32,297,565 (GRCm39)	A111S	probably benign	Het
Srcin1	T	A	11: 97,427,885 (GRCm39)	K236*	probably null	Het
Tbxas1	A	G	6: 39,004,839 (GRCm39)	D362G	possibly damaging	Het
Tcl1b5	T	C	12: 105,146,275 (GRCm39)	I116T	possibly damaging	Het
Tgm7	T	A	2: 120,929,522 (GRCm39)	M251L	probably damaging	Het
Tnn	T	A	1: 159,950,272 (GRCm39)	Q778L	possibly damaging	Het
Wdr17	C	T	8: 55,134,434 (GRCm39)	G349R	probably damaging	Het
Zfp622	T	C	15: 25,984,855 (GRCm39)	C74R	probably damaging	Het
Zfp646	C	A	7: 127,481,875 (GRCm39)	H1351N	possibly damaging	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
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
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'- ACACCCAGGATTCTCAGCAG -3'
(R):5'- TTCTACTCAAGTGACACAGAGGAG -3'

Sequencing Primer
(F):5'- AGGATTCTCAGCAGGCCTG -3'
(R):5'- TGACACAGAGGAGCCAGC -3'

Posted On

2016-09-01