Mutagenetix > Incidental Mutation

Incidental Mutation 'R4877:Nectin2'

374988

Institutional Source

Beutler Lab

Gene Symbol

Nectin2

Ensembl Gene

ENSMUSG00000062300

Gene Name

nectin cell adhesion molecule 2

Synonyms

Pvrl2, Cd112, nectin-2, MPH, Pvs

MMRRC Submission

042486-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R4877 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19450569-19483498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19451645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 463 (T463I)

Ref Sequence

ENSEMBL: ENSMUSP00000074898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032555] [ENSMUST00000075447] [ENSMUST00000093552]

AlphaFold

P32507

PDB Structure

Crystal structure of mouse nectin-2 extracellular fragment D1-D2 [X-RAY DIFFRACTION]
Crystal structure of mouse nectin-2 extracellular fragment D1-D2, 2nd crystal form [X-RAY DIFFRACTION]
Crystal structure of mutant F136D of mouse nectin-2 extracellular fragment D1-D2 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000032555

SMART Domains

Protein: ENSMUSP00000032555
Gene: ENSMUSG00000002984

Domain	Start	End	E-Value	Type
low complexity region	8	69	N/A	INTRINSIC
Pfam:Porin_3	79	355	7.7e-85	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075447
AA Change: T463I

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074898
Gene: ENSMUSG00000062300
AA Change: T463I

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
IGv	49	133	3.59e-14	SMART
IG_like	159	249	5.31e1	SMART
IG_like	261	338	8.12e1	SMART
transmembrane domain	351	373	N/A	INTRINSIC
low complexity region	455	478	N/A	INTRINSIC
low complexity region	486	496	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093552

SMART Domains

Protein: ENSMUSP00000104090
Gene: ENSMUSG00000002984

Domain	Start	End	E-Value	Type
low complexity region	8	69	N/A	INTRINSIC
Pfam:Porin_3	79	355	1.5e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172483

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173966

Meta Mutation Damage Score

0.0756

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

100% (76/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a single-pass type I membrane glycoprotein with two Ig-like C2-type domains and an Ig-like V-type domain. This protein is one of the plasma membrane components of adherens junctions. It also serves as an entry for certain mutant strains of herpes simplex virus and pseudorabies virus, and it is involved in cell to cell spreading of these viruses. Variations in this gene have been associated with differences in the severity of multiple sclerosis. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted null mutations exhibit male sterility associated with sperm head and midpiece malformation, impaired zona binding, and lack of oocyte penetration. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,258,421 (GRCm39)	Y475H	probably damaging	Het
Adamts12	G	T	15: 11,327,787 (GRCm39)	G1388V	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Arhgap26	T	C	18: 39,429,982 (GRCm39)		probably null	Het
Atp7b	T	A	8: 22,518,617 (GRCm39)	I74F	probably damaging	Het
Bod1l	A	G	5: 41,977,337 (GRCm39)	Y1326H	probably benign	Het
Card11	T	C	5: 140,871,632 (GRCm39)	S690G	probably damaging	Het
Cbx3	A	G	6: 51,459,540 (GRCm39)	E169G	possibly damaging	Het
Cd28	A	T	1: 60,808,861 (GRCm39)	M192L	possibly damaging	Het
Chd6	T	C	2: 160,871,219 (GRCm39)		probably benign	Het
Cyp2c69	C	T	19: 39,866,056 (GRCm39)	C179Y	probably damaging	Het
Cyp7b1	A	T	3: 18,151,457 (GRCm39)	V252E	probably damaging	Het
Dcp2	G	T	18: 44,550,659 (GRCm39)	G378C	probably benign	Het
Dip2b	A	T	15: 100,058,410 (GRCm39)	I196L	possibly damaging	Het
Erbin	G	A	13: 103,987,346 (GRCm39)	P405S	probably damaging	Het
Etv1	A	G	12: 38,881,292 (GRCm39)		probably null	Het
F830104G03Rik	T	G	3: 56,797,917 (GRCm39)	K33T	unknown	Het
Fbln2	C	A	6: 91,210,477 (GRCm39)	H140Q	probably damaging	Het
Fxr1	A	G	3: 34,101,847 (GRCm39)	T109A	probably damaging	Het
Gm10110	T	C	14: 90,134,785 (GRCm39)		noncoding transcript	Het
Gm9949	C	T	18: 62,317,140 (GRCm39)		probably benign	Het
Grin2d	A	G	7: 45,504,039 (GRCm39)	L604P	probably damaging	Het
Gstcd	A	T	3: 132,711,314 (GRCm39)		probably benign	Het
Ifna16	A	G	4: 88,594,681 (GRCm39)	V138A	probably benign	Het
Itpr2	T	A	6: 146,226,703 (GRCm39)	N1314I	probably damaging	Het
Kitl	T	C	10: 99,916,728 (GRCm39)	V177A	probably damaging	Het
L3mbtl1	A	T	2: 162,790,488 (GRCm39)	Q185L	probably damaging	Het
Lhx9	T	A	1: 138,766,092 (GRCm39)	N232I	probably benign	Het
Lnx1	T	C	5: 74,788,784 (GRCm39)	R111G	probably benign	Het
Lrrc41	A	G	4: 115,936,602 (GRCm39)	I72M	probably damaging	Het
Lrriq1	T	A	10: 103,069,899 (GRCm39)	D39V	possibly damaging	Het
Lyrm7	A	G	11: 54,731,936 (GRCm39)		probably benign	Het
Lyst	T	A	13: 13,857,734 (GRCm39)	Y2508N	probably damaging	Het
Masp2	A	T	4: 148,687,328 (GRCm39)	Y70F	probably benign	Het
Mc4r	T	C	18: 66,992,409 (GRCm39)	I235V	probably benign	Het
Med12l	G	A	3: 59,152,214 (GRCm39)	V1000M	probably damaging	Het
Morc2b	T	C	17: 33,357,712 (GRCm39)	H20R	probably benign	Het
Ms4a1	A	T	19: 11,231,857 (GRCm39)	S173T	probably damaging	Het
Myh13	A	C	11: 67,228,477 (GRCm39)	D339A	probably damaging	Het
Nars1	A	T	18: 64,633,643 (GRCm39)	Y542*	probably null	Het
Nrg4	A	G	9: 55,166,679 (GRCm39)	F64L	probably benign	Het
Nrxn1	T	A	17: 91,395,605 (GRCm39)	I184F	probably benign	Het
Nxph2	C	T	2: 23,289,846 (GRCm39)	P66L	probably benign	Het
Or10ag2	C	T	2: 87,248,907 (GRCm39)	Q170*	probably null	Het
Or2v1	C	A	11: 49,025,608 (GRCm39)	F196L	probably damaging	Het
Pard3	A	T	8: 128,115,018 (GRCm39)	T579S	probably damaging	Het
Patj	A	G	4: 98,457,295 (GRCm39)	I48V	possibly damaging	Het
Paxbp1	T	C	16: 90,841,199 (GRCm39)		probably benign	Het
Pou2f3	A	T	9: 43,050,618 (GRCm39)	N235K	possibly damaging	Het
Ppp2r2c	A	G	5: 37,026,214 (GRCm39)	D17G	probably damaging	Het
Rgs8	A	G	1: 153,568,633 (GRCm39)		probably benign	Het
Rnd3	A	G	2: 51,038,762 (GRCm39)	V42A	probably damaging	Het
Rp1l1	A	G	14: 64,263,620 (GRCm39)	R247G	probably benign	Het
Sec31b	A	T	19: 44,524,172 (GRCm39)	V156D	probably damaging	Het
Slc22a2	T	A	17: 12,833,702 (GRCm39)	Y461N	possibly damaging	Het
Spag6l	T	C	16: 16,599,622 (GRCm39)	K280R	possibly damaging	Het
Spata31d1a	A	G	13: 59,850,337 (GRCm39)	L597P	probably damaging	Het
Srr	G	T	11: 74,798,606 (GRCm39)		probably benign	Het
Sry	C	G	Y: 2,662,864 (GRCm39)	Q265H	unknown	Het
Tgif1	A	C	17: 71,156,700 (GRCm39)		probably null	Het
Tle3	A	T	9: 61,280,781 (GRCm39)		probably benign	Het
Tubgcp4	A	G	2: 121,020,343 (GRCm39)	T439A	probably benign	Het
Twist1	C	T	12: 34,008,350 (GRCm39)	T125M	probably damaging	Het
Unc13a	T	A	8: 72,111,260 (GRCm39)	D317V	possibly damaging	Het
Vmn1r227	T	A	17: 20,955,407 (GRCm39)		noncoding transcript	Het
Vps72	G	T	3: 95,025,498 (GRCm39)		probably benign	Het
Zfp184	T	C	13: 22,144,498 (GRCm39)	S735P	possibly damaging	Het
Zfp42	A	T	8: 43,748,725 (GRCm39)	C259S	possibly damaging	Het
Zmiz2	A	G	11: 6,353,251 (GRCm39)	H678R	probably damaging	Het

Other mutations in Nectin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01982:Nectin2	APN	7	19,451,487 (GRCm39)	missense	probably damaging	1.00
IGL03184:Nectin2	APN	7	19,472,231 (GRCm39)	missense	possibly damaging	0.86
PIT4458001:Nectin2	UTSW	7	19,472,252 (GRCm39)	missense	probably benign	0.19
R0012:Nectin2	UTSW	7	19,464,669 (GRCm39)	splice site	probably benign
R0012:Nectin2	UTSW	7	19,464,669 (GRCm39)	splice site	probably benign
R0555:Nectin2	UTSW	7	19,467,148 (GRCm39)	splice site	probably benign
R0764:Nectin2	UTSW	7	19,483,096 (GRCm39)	splice site	probably null
R1252:Nectin2	UTSW	7	19,451,523 (GRCm39)	missense	probably benign	0.18
R1465:Nectin2	UTSW	7	19,464,041 (GRCm39)	missense	probably benign
R1465:Nectin2	UTSW	7	19,464,041 (GRCm39)	missense	probably benign
R1833:Nectin2	UTSW	7	19,451,633 (GRCm39)	missense	probably damaging	0.96
R2115:Nectin2	UTSW	7	19,451,489 (GRCm39)	missense	probably damaging	0.98
R2168:Nectin2	UTSW	7	19,464,539 (GRCm39)	missense	probably damaging	0.98
R3801:Nectin2	UTSW	7	19,451,561 (GRCm39)	missense	probably benign
R3825:Nectin2	UTSW	7	19,458,510 (GRCm39)	missense	possibly damaging	0.94
R5062:Nectin2	UTSW	7	19,472,198 (GRCm39)	missense	probably benign	0.09
R5082:Nectin2	UTSW	7	19,472,049 (GRCm39)	missense	probably damaging	0.99
R5693:Nectin2	UTSW	7	19,458,794 (GRCm39)	missense	probably benign	0.00
R6042:Nectin2	UTSW	7	19,472,063 (GRCm39)	missense	probably benign	0.01
R6060:Nectin2	UTSW	7	19,451,700 (GRCm39)	missense	probably damaging	1.00
R6657:Nectin2	UTSW	7	19,472,065 (GRCm39)	missense	probably benign	0.41
R7437:Nectin2	UTSW	7	19,483,193 (GRCm39)	nonsense	probably null
R7476:Nectin2	UTSW	7	19,451,546 (GRCm39)	missense	possibly damaging	0.82
R7523:Nectin2	UTSW	7	19,464,037 (GRCm39)	missense	probably benign	0.00
R7538:Nectin2	UTSW	7	19,464,544 (GRCm39)	missense	probably damaging	1.00
R7910:Nectin2	UTSW	7	19,466,912 (GRCm39)	nonsense	probably null
R8181:Nectin2	UTSW	7	19,458,733 (GRCm39)	missense	probably damaging	1.00
R8394:Nectin2	UTSW	7	19,467,137 (GRCm39)	critical splice acceptor site	probably null
R8406:Nectin2	UTSW	7	19,472,275 (GRCm39)	missense	probably damaging	0.99
R8419:Nectin2	UTSW	7	19,472,003 (GRCm39)	missense	probably damaging	1.00
R8419:Nectin2	UTSW	7	19,451,646 (GRCm39)	missense	probably benign	0.00
R9188:Nectin2	UTSW	7	19,453,119 (GRCm39)	critical splice donor site	probably null
Z1176:Nectin2	UTSW	7	19,472,288 (GRCm39)	missense	probably benign	0.15

Predicted Primers

PCR Primer
(F):5'- ACATACATGGCCCGTGACAC -3'
(R):5'- ACTGTACAGAGAAGTTTGGTCG -3'

Sequencing Primer
(F):5'- GGAAGTCTTCCTCCTCAT -3'
(R):5'- TACAGAGAAGTTTGGTCGAGGGAG -3'

Posted On

2016-03-17