Mutagenetix > Incidental Mutation

Incidental Mutation 'R5977:Marveld2'

481214

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

044159-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5977 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100732465-100753479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100748197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 294 (N294S)

Ref Sequence

ENSEMBL: ENSMUSP00000153294 (fasta)

Gene Model

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

AlphaFold

Q3UZP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022137
AA Change: N294S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
AA Change: N294S

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

possibly damaging
Transcript: ENSMUST00000168772
AA Change: N294S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
AA Change: N294S

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

possibly damaging
Transcript: ENSMUST00000225754
AA Change: N294S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.6636

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

97% (72/74)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,451,106 (GRCm39)	R446S	probably damaging	Het
2900092C05Rik	A	T	7: 12,288,664 (GRCm39)	H159L	probably benign	Het
4933405O20Rik	G	A	7: 50,249,838 (GRCm39)	V291I	probably damaging	Het
A2ml1	A	G	6: 128,558,085 (GRCm39)	Y24H	probably damaging	Het
Adgrv1	C	T	13: 81,583,678 (GRCm39)		probably null	Het
Ankrd52	C	T	10: 128,218,566 (GRCm39)	H351Y	probably damaging	Het
Anks6	C	A	4: 47,035,748 (GRCm39)	A588S	probably benign	Het
Arl15	T	G	13: 114,070,645 (GRCm39)	V80G	probably damaging	Het
Atp8a1	A	G	5: 67,904,628 (GRCm39)	I532T	possibly damaging	Het
Birc6	T	C	17: 74,910,031 (GRCm39)	C1475R	probably damaging	Het
Carmil1	C	T	13: 24,253,719 (GRCm39)	R394Q	probably damaging	Het
Cbfa2t2	T	C	2: 154,359,697 (GRCm39)	I254T	probably damaging	Het
Cemip2	A	G	19: 21,803,447 (GRCm39)	T827A	probably benign	Het
Col6a3	A	G	1: 90,749,571 (GRCm39)	V421A	possibly damaging	Het
Cped1	T	C	6: 22,254,607 (GRCm39)	V1000A	probably damaging	Het
Cr1l	A	T	1: 194,797,076 (GRCm39)	Y282*	probably null	Het
Cryl1	G	T	14: 57,620,236 (GRCm39)	T43K	probably benign	Het
Csmd2	C	T	4: 127,952,827 (GRCm39)	P92L	probably damaging	Het
Ddx60	G	A	8: 62,474,444 (GRCm39)		probably null	Het
Dhrs7b	C	T	11: 60,743,328 (GRCm39)	R187*	probably null	Het
Dmtf1	T	C	5: 9,190,451 (GRCm39)	T88A	probably damaging	Het
Dnah2	T	C	11: 69,411,707 (GRCm39)	E305G	possibly damaging	Het
Dscaml1	A	C	9: 45,632,596 (GRCm39)	N1154T	probably benign	Het
Efhc1	A	G	1: 21,030,442 (GRCm39)	Y125C	probably damaging	Het
Egflam	T	A	15: 7,347,726 (GRCm39)	Y68F	possibly damaging	Het
Gcm2	A	G	13: 41,256,603 (GRCm39)	V382A	probably damaging	Het
Gm18358	A	G	7: 84,739,756 (GRCm39)		noncoding transcript	Het
Gm3443	T	G	19: 21,534,960 (GRCm39)	I75S	probably benign	Het
Gpr182	C	A	10: 127,586,748 (GRCm39)	V68F	possibly damaging	Het
Herc1	T	A	9: 66,340,604 (GRCm39)	M1651K	possibly damaging	Het
Hey1	A	T	3: 8,731,418 (GRCm39)		probably null	Het
Ighv1-43	A	C	12: 114,909,829 (GRCm39)	V31G	probably benign	Het
Il17rc	T	C	6: 113,459,692 (GRCm39)	V450A	probably damaging	Het
Kbtbd4	T	G	2: 90,736,487 (GRCm39)	V166G	probably benign	Het
Mtdh	A	G	15: 34,099,720 (GRCm39)	K61E	probably damaging	Het
Muc5ac	T	C	7: 141,350,104 (GRCm39)	S616P	possibly damaging	Het
Myh15	T	C	16: 48,973,866 (GRCm39)	L1292P	probably damaging	Het
Nek8	C	T	11: 78,058,651 (GRCm39)	V550M	probably benign	Het
Nup155	T	A	15: 8,159,721 (GRCm39)		probably null	Het
Or2y17	G	A	11: 49,231,592 (GRCm39)	V78M	probably damaging	Het
Or7c70	A	T	10: 78,683,572 (GRCm39)	M59K	possibly damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Papln	G	A	12: 83,831,143 (GRCm39)	W1099*	probably null	Het
Pcdhb17	A	G	18: 37,618,720 (GRCm39)	Y170C	probably damaging	Het
Pramel12	T	C	4: 143,144,229 (GRCm39)	Y192H	probably benign	Het
Prss39	T	G	1: 34,541,783 (GRCm39)	C287G	probably damaging	Het
Pyroxd2	A	G	19: 42,723,911 (GRCm39)	V338A	probably damaging	Het
Rab19	T	A	6: 39,360,860 (GRCm39)	F3I	probably benign	Het
Relt	A	G	7: 100,512,355 (GRCm39)		probably benign	Het
Sbf2	T	A	7: 109,977,193 (GRCm39)	H647L	probably benign	Het
Scube1	C	T	15: 83,513,689 (GRCm39)	C327Y	probably damaging	Het
Sec14l4	A	C	11: 3,990,055 (GRCm39)	Q118P	possibly damaging	Het
Shisa9	C	G	16: 12,085,292 (GRCm39)	D300E	probably benign	Het
Smg1	A	G	7: 117,740,580 (GRCm39)		probably benign	Het
Sncaip	A	G	18: 53,002,393 (GRCm39)	T305A	probably benign	Het
Sorcs3	T	C	19: 48,784,889 (GRCm39)	V1104A	probably damaging	Het
Ugt1a6b	C	T	1: 88,143,982 (GRCm39)	R201C	probably damaging	Het
Unc119b	A	G	5: 115,268,612 (GRCm39)	V91A	probably benign	Het
Uvssa	A	G	5: 33,547,204 (GRCm39)	K257E	probably damaging	Het
Vmn1r199	A	C	13: 22,567,416 (GRCm39)	M237L	probably benign	Het
Vmn1r69	G	A	7: 10,314,417 (GRCm39)	R26W	probably damaging	Het
Vmn2r54	A	G	7: 12,366,143 (GRCm39)	F264L	probably damaging	Het
Vmn2r7	C	T	3: 64,623,464 (GRCm39)	W285*	probably null	Het
Vmn2r78	T	A	7: 86,569,541 (GRCm39)	S145T	possibly damaging	Het
Vmn2r78	T	A	7: 86,604,115 (GRCm39)	N764K	probably benign	Het
Wdr5b	T	G	16: 35,862,374 (GRCm39)	H164Q	probably damaging	Het
Zcchc7	G	A	4: 44,894,982 (GRCm39)	V236I	possibly damaging	Het
Zfp729b	G	A	13: 67,739,740 (GRCm39)	R842C	probably benign	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
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'- GCGCTGACGAGATAAACTATCATG -3'
(R):5'- ACGAGTGGTACAACTTGTTTGG -3'

Sequencing Primer
(F):5'- CTGACGAGATAAACTATCATGGTGAC -3'
(R):5'- GGCAGCCTCGGCAATACATATG -3'

Posted On

2017-06-26