Mutagenetix > Incidental Mutation

Incidental Mutation 'R7484:Marveld2'

580014

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

045558-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100732465-100753479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 100748068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 337 (G337D)

Ref Sequence

ENSEMBL: ENSMUSP00000022137 (fasta)

Gene Model

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

AlphaFold

Q3UZP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022137
AA Change: G337D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
AA Change: G337D

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 damaging
Transcript: ENSMUST00000168772
AA Change: G337D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
AA Change: G337D

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 damaging
Transcript: ENSMUST00000225754
AA Change: G337D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	G	4: 144,504,521 (GRCm39)	L210P	probably damaging	Het
Acacb	G	A	5: 114,356,923 (GRCm39)	V1285I	probably damaging	Het
Acly	A	T	11: 100,386,789 (GRCm39)	I591N	probably damaging	Het
Acr	T	A	15: 89,457,427 (GRCm39)	V225E	probably damaging	Het
Actr8	A	G	14: 29,714,925 (GRCm39)	D580G	probably damaging	Het
Adamts12	C	A	15: 11,345,734 (GRCm39)	Q1592K	probably benign	Het
Aire	T	C	10: 77,878,404 (GRCm39)	E138G	probably damaging	Het
Apob	C	T	12: 8,056,884 (GRCm39)	Q1789*	probably null	Het
Cbx5	A	C	15: 103,114,256 (GRCm39)		probably null	Het
Cd300lb	A	T	11: 114,819,345 (GRCm39)	W95R	probably damaging	Het
Cdc16	A	G	8: 13,827,605 (GRCm39)	T504A	probably benign	Het
Cenpf	A	G	1: 189,389,018 (GRCm39)	S1605P	probably damaging	Het
Ckap2l	A	G	2: 129,114,455 (GRCm39)	V596A	possibly damaging	Het
Cntn1	T	C	15: 92,151,922 (GRCm39)	W454R	probably benign	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Csf2rb	A	G	15: 78,223,099 (GRCm39)	T104A	possibly damaging	Het
Cyp4a12b	A	G	4: 115,289,760 (GRCm39)	D209G	possibly damaging	Het
Ddx23	T	C	15: 98,546,570 (GRCm39)	E533G	probably damaging	Het
Dscaml1	A	G	9: 45,660,744 (GRCm39)		probably null	Het
Eif3l	T	G	15: 78,968,336 (GRCm39)	C202G	probably benign	Het
Ephx4	T	G	5: 107,577,612 (GRCm39)	M312R	probably damaging	Het
Erich6	A	T	3: 58,534,112 (GRCm39)		probably null	Het
Far2	G	A	6: 148,075,411 (GRCm39)	D424N	probably damaging	Het
Fat1	C	A	8: 45,489,221 (GRCm39)	N3497K	probably damaging	Het
Fstl3	G	A	10: 79,615,865 (GRCm39)	C117Y	probably damaging	Het
Fyb2	A	T	4: 104,870,499 (GRCm39)	H700L	probably benign	Het
Gm8356	T	A	14: 17,691,282 (GRCm39)	M128L	probably benign	Het
Golim4	G	T	3: 75,805,442 (GRCm39)		probably null	Het
Grm1	T	G	10: 10,622,403 (GRCm39)	D440A	probably benign	Het
Gtf2a1	A	G	12: 91,529,747 (GRCm39)	V322A	probably benign	Het
Hid1	T	C	11: 115,243,407 (GRCm39)		probably null	Het
Igfals	G	A	17: 25,098,962 (GRCm39)	V18M	possibly damaging	Het
Klk1b24	G	T	7: 43,839,688 (GRCm39)		probably null	Het
Lmbr1	T	C	5: 29,551,850 (GRCm39)		probably benign	Het
Lrrc40	T	C	3: 157,746,194 (GRCm39)	S90P	probably benign	Het
Mapk9	T	C	11: 49,763,663 (GRCm39)	Y185H	probably damaging	Het
Mga	G	T	2: 119,776,710 (GRCm39)	R1539L	probably damaging	Het
Mllt6	T	A	11: 97,563,442 (GRCm39)	S342T	probably benign	Het
Ms4a6c	T	C	19: 11,449,893 (GRCm39)		probably null	Het
Muc16	T	A	9: 18,558,064 (GRCm39)	H2743L	unknown	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or10ag60	T	C	2: 87,438,281 (GRCm39)	F183S	probably damaging	Het
Or2l13	A	G	16: 19,305,753 (GRCm39)	H55R	possibly damaging	Het
Plcd3	T	G	11: 102,962,545 (GRCm39)	K635N	probably damaging	Het
Prkch	T	A	12: 73,632,301 (GRCm39)		probably null	Het
Rb1cc1	T	C	1: 6,344,441 (GRCm39)	V1570A	probably damaging	Het
Rp1	T	C	1: 4,415,704 (GRCm39)	N1803D	probably benign	Het
Rufy3	T	A	5: 88,746,331 (GRCm39)	V72E	probably benign	Het
Secisbp2l	G	A	2: 125,613,452 (GRCm39)	Q181*	probably null	Het
Sgcb	A	G	5: 73,797,188 (GRCm39)	F191L	possibly damaging	Het
Sgsh	T	A	11: 119,237,183 (GRCm39)	D477V	probably damaging	Het
Shoc1	A	T	4: 59,062,286 (GRCm39)	V924E	probably damaging	Het
Slc22a28	C	A	19: 8,048,492 (GRCm39)	S385I	probably benign	Het
Slc26a3	T	C	12: 31,497,787 (GRCm39)	V47A	probably benign	Het
Slco2a1	A	T	9: 102,945,185 (GRCm39)	I187F	probably damaging	Het
Sltm	T	C	9: 70,481,179 (GRCm39)	S344P	unknown	Het
Sort1	A	G	3: 108,246,141 (GRCm39)	T373A	probably damaging	Het
Stab1	A	G	14: 30,882,274 (GRCm39)	F474L	probably benign	Het
Tbc1d5	G	T	17: 51,224,573 (GRCm39)	A326E	possibly damaging	Het
Tcstv4	A	T	13: 120,770,017 (GRCm39)	K112N	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr70	G	A	15: 7,951,562 (GRCm39)	T425I	probably benign	Het
Zfp30	T	C	7: 29,492,231 (GRCm39)	Y243H	probably benign	Het
Zfp974	A	T	7: 27,611,559 (GRCm39)	N55K	possibly damaging	Het
Zftraf1	A	G	15: 76,530,435 (GRCm39)	L295P	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
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
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'- AAAGGCATTCTGAAAGTCTGC -3'
(R):5'- TTGGACTCTAACTGGTGGCC -3'

Sequencing Primer
(F):5'- GACTCTGACAAAGTTTTGAGGATG -3'
(R):5'- CCCTGACTGAGTTCGGAGTTAAC -3'

Posted On

2019-10-07