Mutagenetix > Incidental Mutation

Incidental Mutation 'R2259:Marveld2'

243675

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

040259-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2259 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100732465-100753479 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100748978 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 34 (S34P)

Ref Sequence

ENSEMBL: ENSMUSP00000153294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022136] [ENSMUST00000022137] [ENSMUST00000163163] [ENSMUST00000168772] [ENSMUST00000225754] [ENSMUST00000226050]

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: S34P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000022137
Gene: ENSMUSG00000021636
AA Change: S34P

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: S34P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000126438
Gene: ENSMUSG00000021636
AA Change: S34P

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: S34P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000226050

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrd1	T	G	5: 129,189,375 (GRCm39)	S91A	possibly damaging	Het
Ankrd13b	T	G	11: 77,367,168 (GRCm39)	N247T	probably damaging	Het
Atp10b	A	G	11: 43,063,572 (GRCm39)	D169G	probably damaging	Het
Atp10b	G	A	11: 43,080,440 (GRCm39)	V239M	probably damaging	Het
Cflar	C	T	1: 58,768,280 (GRCm39)	T121I	probably benign	Het
Clca3b	T	C	3: 144,552,142 (GRCm39)	N180D	possibly damaging	Het
Cnbd2	T	A	2: 156,177,192 (GRCm39)	I62N	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Cyp2a4	C	T	7: 26,008,460 (GRCm39)	L201F	probably damaging	Het
D630003M21Rik	A	T	2: 158,046,631 (GRCm39)	L782Q	probably damaging	Het
Dctn1	C	A	6: 83,174,568 (GRCm39)	H1065N	possibly damaging	Het
Dgcr2	A	T	16: 17,662,841 (GRCm39)		probably null	Het
Dlg4	T	C	11: 69,922,196 (GRCm39)	I143T	probably damaging	Het
E2f7	T	G	10: 110,582,204 (GRCm39)	N4K	probably damaging	Het
Eef2kmt	C	T	16: 5,063,172 (GRCm39)	V323I	probably benign	Het
Eif2ak4	A	C	2: 118,286,264 (GRCm39)	I1017L	probably damaging	Het
Eln	C	A	5: 134,758,508 (GRCm39)	A126S	unknown	Het
Exoc7	T	C	11: 116,197,237 (GRCm39)	S35G	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fkbp6	C	T	5: 135,366,468 (GRCm39)		probably null	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fmn2	T	A	1: 174,330,498 (GRCm39)	L296H	unknown	Het
Galnt14	C	A	17: 73,801,261 (GRCm39)	M520I	probably benign	Het
Gba2	A	G	4: 43,570,107 (GRCm39)	C396R	probably benign	Het
Gigyf1	C	A	5: 137,518,594 (GRCm39)	A215E	possibly damaging	Het
Glb1	C	T	9: 114,272,100 (GRCm39)	Q246*	probably null	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpr160	A	G	3: 30,950,444 (GRCm39)	Y172C	probably damaging	Het
Ift52	A	G	2: 162,870,013 (GRCm39)	N159S	probably benign	Het
Insrr	A	G	3: 87,707,759 (GRCm39)	D67G	probably damaging	Het
Insyn2a	T	A	7: 134,519,396 (GRCm39)	E378V	probably damaging	Het
Irf2	A	G	8: 47,290,868 (GRCm39)	Y230C	probably benign	Het
Jmjd6	T	C	11: 116,732,140 (GRCm39)	H187R	probably damaging	Het
Kdm2b	C	T	5: 123,020,479 (GRCm39)	G90S	probably damaging	Het
Kif7	C	T	7: 79,361,337 (GRCm39)	G118D	probably damaging	Het
Klhl38	G	C	15: 58,178,374 (GRCm39)	T532S	possibly damaging	Het
Kmt2a	G	T	9: 44,792,440 (GRCm39)		probably benign	Het
Lama2	A	G	10: 26,907,123 (GRCm39)	L2346S	probably benign	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo7a	T	G	7: 97,718,706 (GRCm39)	D1388A	probably damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Ncoa1	A	C	12: 4,365,819 (GRCm39)	H82Q	probably damaging	Het
Npbwr1	C	A	1: 5,986,877 (GRCm39)	L212F	probably damaging	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Npy2r	G	T	3: 82,448,661 (GRCm39)	P38Q	possibly damaging	Het
Ocln	A	T	13: 100,671,537 (GRCm39)	D24E	probably damaging	Het
Or14c41	T	A	7: 86,235,092 (GRCm39)	V203D	possibly damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Phf3	A	G	1: 30,843,424 (GRCm39)	V1845A	probably benign	Het
Plch1	T	A	3: 63,605,398 (GRCm39)	Q1493L	possibly damaging	Het
Pold1	T	C	7: 44,190,908 (GRCm39)		probably benign	Het
Polq	T	C	16: 36,882,459 (GRCm39)	V1541A	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Pura	T	C	18: 36,420,803 (GRCm39)	F197L	possibly damaging	Het
Rab3gap2	T	A	1: 184,954,056 (GRCm39)	W43R	probably damaging	Het
Repin1	A	G	6: 48,573,464 (GRCm39)	Q128R	probably benign	Het
Rnf208	G	A	2: 25,133,656 (GRCm39)	V117I	probably damaging	Het
Rpe65	A	G	3: 159,321,208 (GRCm39)	Y340C	probably damaging	Het
Ryr1	C	A	7: 28,719,166 (GRCm39)	V4414L	unknown	Het
Sephs2	T	C	7: 126,872,649 (GRCm39)	E148G	possibly damaging	Het
Spns2	T	A	11: 72,348,094 (GRCm39)	Q291L	probably benign	Het
Ssc5d	C	T	7: 4,946,915 (GRCm39)	P1090S	probably benign	Het
Tasp1	A	T	2: 139,793,426 (GRCm39)	V250D	probably damaging	Het
Tcaf3	A	G	6: 42,568,364 (GRCm39)	I664T	possibly damaging	Het
Tg	T	C	15: 66,555,747 (GRCm39)	V813A	probably benign	Het
Tmem132c	T	C	5: 127,581,988 (GRCm39)	L401P	probably benign	Het
Tmem138	T	C	19: 10,548,967 (GRCm39)	N101S	probably benign	Het
Tmem242	G	T	17: 5,483,745 (GRCm39)	A99E	probably damaging	Het
Tmem30a	C	T	9: 79,681,446 (GRCm39)	R277H	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Tnni3	T	A	7: 4,522,405 (GRCm39)	I182F	probably benign	Het
Trim30a	T	A	7: 104,060,711 (GRCm39)	D355V	probably damaging	Het
Trim35	C	T	14: 66,546,711 (GRCm39)	R493*	probably null	Het
Trip10	G	C	17: 57,562,135 (GRCm39)	V254L	probably benign	Het
Tshz2	A	T	2: 169,728,326 (GRCm39)	Q505L	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc13b	A	T	4: 43,182,780 (GRCm39)	E3163V	possibly damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Usp8	A	G	2: 126,600,488 (GRCm39)	T1080A	probably benign	Het
Vmn2r65	T	A	7: 84,590,119 (GRCm39)	H599L	possibly damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zfp407	G	T	18: 84,227,918 (GRCm39)	T1897K	probably damaging	Het
Zzef1	C	T	11: 72,791,459 (GRCm39)	R2188*	probably null	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
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'- CTGATATCAGACACCGGGTTATC -3'
(R):5'- TTGCCGCCTGAATACGTTTTG -3'

Sequencing Primer
(F):5'- TTCCCTCTGAAGAAATTTTTCCAGG -3'
(R):5'- CCGCCTGAATACGTTTTGTAATTAAG -3'

Posted On

2014-10-16