Mutagenetix > Incidental Mutation

Incidental Mutation 'R1569:Marveld2'

177144

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

039608-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1569 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100732465-100753479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100737506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 128 (V128I)

Ref Sequence

ENSEMBL: ENSMUSP00000129990 (fasta)

Gene Model

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

AlphaFold

Q3UZP0

Predicted Effect

probably benign
Transcript: ENSMUST00000022137
AA Change: V405I

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
AA Change: V405I

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

noncoding transcript
Transcript: ENSMUST00000083744

Predicted Effect

probably benign
Transcript: ENSMUST00000163163
AA Change: V128I

PolyPhen 2 Score 0.323 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129990
Gene: ENSMUSG00000021636
AA Change: V128I

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: V405I

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
AA Change: V405I

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: V405I

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0648

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.3%

Validation Efficiency

96% (72/75)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	A	9: 124,056,427 (GRCm39)	K166*	probably null	Het
Abca2	T	A	2: 25,329,197 (GRCm39)	N1012K	probably benign	Het
Ahnak	T	C	19: 8,981,458 (GRCm39)	V914A	possibly damaging	Het
Akap1	T	A	11: 88,724,006 (GRCm39)	M833L	probably benign	Het
Atp2b1	T	A	10: 98,823,188 (GRCm39)	H249Q	probably benign	Het
Atp6v0a4	A	G	6: 38,027,560 (GRCm39)	V750A	probably damaging	Het
Car6	T	C	4: 150,285,499 (GRCm39)	Y23C	probably damaging	Het
Celsr3	A	G	9: 108,706,267 (GRCm39)	T917A	probably damaging	Het
Clmn	C	A	12: 104,747,340 (GRCm39)	D736Y	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dennd4c	G	A	4: 86,704,331 (GRCm39)	R282H	possibly damaging	Het
Dsg1b	T	A	18: 20,529,537 (GRCm39)	N327K	probably damaging	Het
Eftud2	A	T	11: 102,745,597 (GRCm39)		probably benign	Het
Esyt1	G	T	10: 128,354,863 (GRCm39)	S512R	possibly damaging	Het
Fam124b	T	C	1: 80,190,852 (GRCm39)	Y177C	possibly damaging	Het
Fbxl5	A	T	5: 43,922,803 (GRCm39)	I205K	probably damaging	Het
Fcrl1	A	G	3: 87,292,012 (GRCm39)	Y57C	probably damaging	Het
Gabpb1	A	T	2: 126,494,171 (GRCm39)	D151E	probably benign	Het
Gcc2	C	T	10: 58,105,993 (GRCm39)	L310F	probably benign	Het
Hsd11b1	C	G	1: 192,922,635 (GRCm39)	E141Q	probably damaging	Het
Htr1b	A	G	9: 81,514,340 (GRCm39)	V89A	probably benign	Het
Ibsp	A	T	5: 104,458,017 (GRCm39)	T185S	probably damaging	Het
Igfn1	T	C	1: 135,896,771 (GRCm39)	D1265G	probably benign	Het
Ints9	T	C	14: 65,217,571 (GRCm39)	Y33H	possibly damaging	Het
Kif1a	A	T	1: 92,986,532 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,087,613 (GRCm39)		probably null	Het
Lbp	A	T	2: 158,161,607 (GRCm39)	D223V	probably damaging	Het
Lck	C	A	4: 129,449,449 (GRCm39)	D283Y	probably damaging	Het
Lcmt2	A	G	2: 120,970,309 (GRCm39)	F258S	probably damaging	Het
Lsg1	G	T	16: 30,399,823 (GRCm39)		probably null	Het
Maip1	T	C	1: 57,452,554 (GRCm39)		probably benign	Het
Mark3	T	G	12: 111,600,180 (GRCm39)	I465S	probably benign	Het
Mcm3ap	A	G	10: 76,319,022 (GRCm39)	H750R	possibly damaging	Het
Mdn1	A	T	4: 32,723,501 (GRCm39)	Q2479L	probably null	Het
Met	A	T	6: 17,531,503 (GRCm39)	K594*	probably null	Het
Pak2	G	T	16: 31,856,113 (GRCm39)	S241R	probably damaging	Het
Plxna4	T	C	6: 32,162,410 (GRCm39)	I1368V	possibly damaging	Het
Pparg	T	C	6: 115,416,960 (GRCm39)	I51T	probably benign	Het
Ppp1r18	A	G	17: 36,179,595 (GRCm39)	E62G	probably damaging	Het
Prkag2	T	C	5: 25,152,475 (GRCm39)	S86G	possibly damaging	Het
Rabgap1l	A	T	1: 160,529,960 (GRCm39)	I347K	probably benign	Het
Rdh1	A	T	10: 127,598,941 (GRCm39)	M141L	probably benign	Het
Rfx2	A	T	17: 57,111,326 (GRCm39)	I82N	possibly damaging	Het
Sh2b2	G	A	5: 136,260,589 (GRCm39)	A209V	possibly damaging	Het
Sh3d19	G	A	3: 86,033,951 (GRCm39)	R768H	possibly damaging	Het
Sh3rf1	C	T	8: 61,837,896 (GRCm39)	P814S	probably damaging	Het
Shbg	T	A	11: 69,508,415 (GRCm39)		probably benign	Het
Slc15a2	T	C	16: 36,576,745 (GRCm39)	T430A	probably benign	Het
Slc17a3	A	T	13: 24,039,591 (GRCm39)	I250F	probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spg11	A	G	2: 121,932,187 (GRCm39)	S552P	probably damaging	Het
Srpk2	A	G	5: 23,719,024 (GRCm39)	I597T	probably damaging	Het
St6galnac1	T	G	11: 116,660,097 (GRCm39)	N72T	possibly damaging	Het
Tecpr2	T	A	12: 110,911,321 (GRCm39)		probably null	Het
Tmem208	T	A	8: 106,061,462 (GRCm39)	C163S	possibly damaging	Het
Tpte	T	C	8: 22,835,047 (GRCm39)	V401A	probably damaging	Het
Trhde	A	G	10: 114,282,093 (GRCm39)	W795R	possibly damaging	Het
Trpm3	G	A	19: 22,866,809 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,626,063 (GRCm39)	T14999S	possibly damaging	Het
Txndc2	A	T	17: 65,945,921 (GRCm39)	N85K	probably benign	Het
Yes1	A	G	5: 32,810,507 (GRCm39)	Y192C	probably damaging	Het
Zan	A	G	5: 137,427,392 (GRCm39)	V2415A	unknown	Het
Zfp410	T	A	12: 84,379,726 (GRCm39)	C311S	probably damaging	Het
Zfp51	A	T	17: 21,676,642 (GRCm39)	M38L	probably benign	Het
Zfp560	A	T	9: 20,260,011 (GRCm39)	C284S	possibly damaging	Het
Zfp808	C	T	13: 62,320,714 (GRCm39)	R648*	probably null	Het
Zfp976	G	T	7: 42,262,806 (GRCm39)	H344N	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTACTGCTCTCTGACCAGACC -3'
(R):5'- TTCTGACTGACTCAGGCTGCCTAC -3'

Sequencing Primer
(F):5'- GGGTCCCATTCTTATTTTCCAGTATG -3'
(R):5'- CAGGTTCACACCAGTCCTT -3'

Posted On

2014-04-24