Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01939:Nectin1'

180824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nectin1

Ensembl Gene

ENSMUSG00000032012

Gene Name

nectin cell adhesion molecule 1

Synonyms

HveC, Pvrl1, HIgR, nectin-1, PRR, Cd111, PRR1

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.814) question?

Stock #

IGL01939

Quality Score

Status

Chromosome

Chromosomal Location

43743984-43807461 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 43792574 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000149131 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034510] [ENSMUST00000216893]

Predicted Effect

probably benign
Transcript: ENSMUST00000034510

SMART Domains

Protein: ENSMUSP00000034510
Gene: ENSMUSG00000032012

Domain	Start	End	E-Value	Type
low complexity region	1	20	N/A	INTRINSIC
IG	36	143	8.51e-7	SMART
Pfam:C2-set_2	148	237	8.5e-21	PFAM
IG	254	334	1.28e-1	SMART
transmembrane domain	355	377	N/A	INTRINSIC
low complexity region	436	448	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000216893

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an adhesion protein that plays a role in the organization of adherens junctions and tight junctions in epithelial and endothelial cells. The protein is a calcium(2+)-independent cell-cell adhesion molecule that belongs to the immunoglobulin superfamily and has 3 extracellular immunoglobulin-like loops, a single transmembrane domain (in some isoforms), and a cytoplasmic region. This protein acts as a receptor for glycoprotein D (gD) of herpes simplex viruses 1 and 2 (HSV-1, HSV-2), and pseudorabies virus (PRV) and mediates viral entry into epithelial and neuronal cells. Mutations in this gene cause cleft lip and palate/ectodermal dysplasia 1 syndrome (CLPED1) as well as non-syndromic cleft lip with or without cleft palate (CL/P). Alternative splicing results in multiple transcript variants encoding proteins with distinct C-termini. [provided by RefSeq, Oct 2009]
PHENOTYPE: Homozygous null mice exhibit eye abnormalities including microphthalmia, absent vitreous body, abnormal ciliary body, retinal layers, and lenses, and open eyelids at birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	G	T	4: 129,992,132	D22Y	probably damaging	Het
Ak7	T	C	12: 105,734,924	V242A	probably benign	Het
Cacna1b	T	C	2: 24,661,757	N1127S	probably damaging	Het
Cacnb2	A	T	2: 14,971,569	H267L	probably benign	Het
Ces1b	C	T	8: 93,079,431	G61R	probably damaging	Het
Cgnl1	T	A	9: 71,725,004	D355V	probably damaging	Het
Col24a1	T	C	3: 145,315,244	S459P	probably damaging	Het
Crygd	T	C	1: 65,062,026	T137A	probably benign	Het
Dctn4	T	A	18: 60,544,130	M174K	probably benign	Het
Evi5	A	G	5: 107,816,924		probably benign	Het
Fat2	T	G	11: 55,283,980	D1969A	probably benign	Het
Fcrl5	A	T	3: 87,446,299	E317V	probably damaging	Het
Foxf2	G	T	13: 31,626,714	S212I	probably damaging	Het
Gm21759	T	A	5: 8,180,685		probably benign	Het
Gm5414	A	G	15: 101,625,670		probably benign	Het
Gm7275	T	C	16: 48,073,583		noncoding transcript	Het
Hspa9	T	C	18: 34,938,708	E613G	possibly damaging	Het
Il1rl1	A	G	1: 40,462,008	I515V	possibly damaging	Het
Ins1	G	T	19: 52,264,735	A38S	probably damaging	Het
Klhl31	A	G	9: 77,655,206	N418D	probably benign	Het
Magi3	T	C	3: 104,054,462	K417E	probably damaging	Het
Msh4	A	G	3: 153,857,589	Y823H	probably damaging	Het
Myo6	T	A	9: 80,260,818	D421E	probably damaging	Het
Myom3	T	C	4: 135,765,589	S150P	possibly damaging	Het
Nkx1-2	A	T	7: 132,599,474	I18N	probably damaging	Het
Olfr1006	T	C	2: 85,674,941	D70G	probably damaging	Het
Olfr1193	A	G	2: 88,678,733	T286A	probably damaging	Het
Olfr1467	A	T	19: 13,365,443	I272F	probably benign	Het
Olfr952	A	C	9: 39,426,338	H244Q	probably damaging	Het
Pde8b	T	C	13: 95,095,724	R237G	probably damaging	Het
Pp2d1	G	A	17: 53,515,139	L300F	probably damaging	Het
Ptpn21	A	T	12: 98,689,161	Y516N	probably damaging	Het
Ptprm	T	A	17: 67,063,163		probably benign	Het
Rabggtb	A	G	3: 153,912,013	V16A	probably damaging	Het
Rangap1	A	T	15: 81,720,663	C82S	probably damaging	Het
Rasal2	T	C	1: 157,175,910	E393G	probably damaging	Het
Rasgrf1	A	T	9: 89,974,836	E449V	probably damaging	Het
Rrp12	A	T	19: 41,870,895	H1143Q	probably damaging	Het
Scap	T	C	9: 110,379,481	I530T	probably benign	Het
Sel1l	T	A	12: 91,816,247	Q482L	probably damaging	Het
Serpinb9b	T	C	13: 33,039,665	M280T	probably damaging	Het
Slc39a10	T	A	1: 46,832,735	H348L	probably benign	Het
Slc7a2	T	C	8: 40,914,083	L542P	possibly damaging	Het
Tas1r2	A	T	4: 139,669,177	Q609L	probably damaging	Het
Tbc1d14	A	T	5: 36,508,437		probably benign	Het
Tfb2m	A	G	1: 179,537,697		probably null	Het
Tpo	T	C	12: 30,084,647	T771A	possibly damaging	Het
Tpr	G	A	1: 150,413,745	R609H	possibly damaging	Het
Usp34	T	A	11: 23,345,141		probably benign	Het
Vmn1r193	G	T	13: 22,219,723	S33*	probably null	Het
Vmn2r104	A	C	17: 20,029,925	S695A	probably damaging	Het
Vmn2r24	A	G	6: 123,787,445	D427G	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfp362	A	G	4: 128,787,053	S160P	probably benign	Het

Other mutations in Nectin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01618:Nectin1	APN	9	43791258	nonsense	probably null
IGL01978:Nectin1	APN	9	43792147	missense	probably damaging	0.99
IGL02795:Nectin1	APN	9	43803552	missense	probably benign
K3955:Nectin1	UTSW	9	43792078	missense	probably damaging	1.00
R0563:Nectin1	UTSW	9	43791045	missense	probably benign
R1439:Nectin1	UTSW	9	43792099	missense	possibly damaging	0.78
R1822:Nectin1	UTSW	9	43791077	nonsense	probably null
R4356:Nectin1	UTSW	9	43792505	missense	probably benign	0.22
R5153:Nectin1	UTSW	9	43803498	missense	probably damaging	0.99
R5516:Nectin1	UTSW	9	43803793	missense	probably benign	0.03
R5864:Nectin1	UTSW	9	43791310	missense	probably damaging	1.00
R6903:Nectin1	UTSW	9	43791882	missense	possibly damaging	0.95
R7791:Nectin1	UTSW	9	43792039	missense	probably benign	0.08
R7878:Nectin1	UTSW	9	43803901	missense	probably benign	0.10
R8046:Nectin1	UTSW	9	43792501	missense	probably benign	0.00

Posted On

2014-05-07