Mutagenetix > Incidental Mutation

Incidental Mutation 'R9063:Marveld2'

689118

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9063 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100732465-100753479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100748653 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 142 (N142S)

Ref Sequence

ENSEMBL: ENSMUSP00000022137 (fasta)

Gene Model

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

AlphaFold

Q3UZP0

Predicted Effect

probably benign
Transcript: ENSMUST00000022137
AA Change: N142S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
AA Change: N142S

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: N142S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
AA Change: N142S

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: N142S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	T	G	7: 115,703,660 (GRCm39)	S178A	probably benign	Het
Add3	T	C	19: 53,222,302 (GRCm39)	L303P	probably damaging	Het
Agr2	T	A	12: 36,053,898 (GRCm39)	*176K	probably null	Het
Apobr	C	T	7: 126,185,920 (GRCm39)	T477I	probably benign	Het
Cdca7l	G	A	12: 117,838,536 (GRCm39)	V336M	probably damaging	Het
Cep63	T	G	9: 102,496,227 (GRCm39)	H18P	unknown	Het
Copa	A	G	1: 171,944,529 (GRCm39)	D838G	probably benign	Het
Cspg4	G	T	9: 56,795,687 (GRCm39)	V1141L	probably benign	Het
D930020B18Rik	A	G	10: 121,497,002 (GRCm39)	T146A	probably benign	Het
Dapk1	A	T	13: 60,866,264 (GRCm39)	I206L	probably benign	Het
Emsy	C	T	7: 98,295,684 (GRCm39)	D73N	probably damaging	Het
Esr2	A	T	12: 76,168,590 (GRCm39)	Y540N	probably benign	Het
Exoc7	C	A	11: 116,180,101 (GRCm39)	V668L	probably benign	Het
Fcgbp	C	T	7: 27,791,277 (GRCm39)	T846I	probably damaging	Het
Fhod3	A	G	18: 25,153,772 (GRCm39)	E418G	probably damaging	Het
Fryl	G	A	5: 73,238,346 (GRCm39)	R1467C	possibly damaging	Het
Gas2l3	A	G	10: 89,249,558 (GRCm39)	I520T	probably benign	Het
Gfod1	A	G	13: 43,354,280 (GRCm39)	C232R	probably benign	Het
Gpr61	T	C	3: 108,057,555 (GRCm39)	R369G	probably benign	Het
Hk1	T	C	10: 62,122,429 (GRCm39)	Y423C	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,635,580 (GRCm39)	R79G	probably benign	Het
Kcnn4	T	A	7: 24,076,934 (GRCm39)	V161E	probably damaging	Het
Kif15	T	A	9: 122,833,706 (GRCm39)	I1040N	probably damaging	Het
Kif2b	A	G	11: 91,466,654 (GRCm39)	L543S	probably damaging	Het
Kpna2	A	G	11: 106,883,489 (GRCm39)	I81T	probably benign	Het
Krt12	A	G	11: 99,307,757 (GRCm39)	S444P	probably benign	Het
Lmnb2	C	T	10: 80,742,005 (GRCm39)	V29M	probably benign	Het
Lmod2	T	C	6: 24,603,364 (GRCm39)	V113A	probably benign	Het
Lrp1b	T	C	2: 41,231,838 (GRCm39)	T1211A		Het
Lrrc8d	T	C	5: 105,961,959 (GRCm39)	S790P	probably damaging	Het
Map3k4	A	G	17: 12,482,878 (GRCm39)	V613A	probably damaging	Het
Mgll	G	A	6: 88,802,690 (GRCm39)	V282I	possibly damaging	Het
Mief2	G	A	11: 60,622,314 (GRCm39)	E295K	probably damaging	Het
Mmrn2	A	T	14: 34,120,567 (GRCm39)	H479L	probably benign	Het
Myh15	T	A	16: 48,913,118 (GRCm39)	N358K	probably benign	Het
Mzf1	T	G	7: 12,787,005 (GRCm39)	K101Q	probably damaging	Het
Ncbp3	T	A	11: 72,964,253 (GRCm39)	L401Q	probably damaging	Het
Nck2	T	C	1: 43,593,503 (GRCm39)	C237R	possibly damaging	Het
Nlrp9a	T	G	7: 26,273,291 (GRCm39)	N976K	possibly damaging	Het
Nol11	A	G	11: 107,064,240 (GRCm39)	V524A	probably benign	Het
Nol11	T	C	11: 107,069,857 (GRCm39)	Y331C	possibly damaging	Het
Nsmf	A	T	2: 24,952,622 (GRCm39)	H149L	probably benign	Het
Olfm3	T	C	3: 114,914,582 (GRCm39)	V231A	probably benign	Het
Or1l4b	A	T	2: 37,036,646 (GRCm39)	M141L	probably benign	Het
Or51a6	A	G	7: 102,604,446 (GRCm39)	S121P	probably benign	Het
Or55b4	T	C	7: 102,133,931 (GRCm39)	Y132C	probably damaging	Het
Pcdhgb5	T	A	18: 37,864,739 (GRCm39)	F178Y	probably damaging	Het
Plk2	T	A	13: 110,532,920 (GRCm39)	S160R	possibly damaging	Het
Plk5	C	G	10: 80,193,830 (GRCm39)	R40G	probably damaging	Het
Ppp1cc	A	G	5: 122,306,279 (GRCm39)	N33D	probably benign	Het
Ptpn23	T	C	9: 110,218,693 (GRCm39)	E499G	possibly damaging	Het
Pwp1	A	G	10: 85,720,431 (GRCm39)	H356R	probably benign	Het
Rbsn	G	T	6: 92,171,000 (GRCm39)	T307K	probably benign	Het
Rnf19a	G	A	15: 36,265,615 (GRCm39)	Q161*	probably null	Het
Scin	T	C	12: 40,134,336 (GRCm39)	D236G	possibly damaging	Het
Setd1a	G	A	7: 127,385,558 (GRCm39)	R755H	possibly damaging	Het
Sik3	C	T	9: 46,123,735 (GRCm39)	T1178I	probably benign	Het
Slc49a3	A	G	5: 108,590,103 (GRCm39)	L433P	probably damaging	Het
Tex26	C	T	5: 149,393,826 (GRCm39)	R272C	probably damaging	Het
Trim60	T	A	8: 65,453,465 (GRCm39)	K261N	possibly damaging	Het
Tspan9	A	G	6: 127,944,072 (GRCm39)	I76T	probably damaging	Het
Ttn	T	A	2: 76,588,833 (GRCm39)	Y21412F	probably damaging	Het
Ttn	A	T	2: 76,710,907 (GRCm39)	I8409N	unknown	Het
Unc80	T	C	1: 66,645,816 (GRCm39)		probably null	Het
Ush2a	A	T	1: 187,995,457 (GRCm39)	Q76L	probably benign	Het
Usp1	G	A	4: 98,819,389 (GRCm39)	V284I	probably benign	Het
Usp31	A	G	7: 121,306,466 (GRCm39)	V4A	probably benign	Het
Vmn2r88	G	A	14: 51,648,329 (GRCm39)		probably benign	Het
Zfp959	G	A	17: 56,204,221 (GRCm39)	R86K	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
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

Predicted Primers

PCR Primer
(F):5'- GTGGATGTAAGCCGTGACAC -3'
(R):5'- AGACGCTTTGTTCCCGACTC -3'

Sequencing Primer
(F):5'- TGACACACGCGAAGACG -3'
(R):5'- CTCCTGGAAAAATTTCTTCAGAGGG -3'

Posted On

2021-11-19