Mutagenetix > Incidental Mutation

Incidental Mutation 'R8406:Nectin2'

652416

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

067765-MU

Accession Numbers

Essential gene?

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

Stock #

R8406 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

19450569-19483498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19472275 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 38 (V38E)

Ref Sequence

ENSEMBL: ENSMUSP00000074898 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075447] [ENSMUST00000108450]

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 damaging
Transcript: ENSMUST00000075447
AA Change: V38E

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074898
Gene: ENSMUSG00000062300
AA Change: V38E

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 damaging
Transcript: ENSMUST00000108450
AA Change: V38E

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104089
Gene: ENSMUSG00000062300
AA Change: V38E

Domain	Start	End	E-Value	Type
low complexity region	7	26	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	416	438	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,977,343 (GRCm39)	F139L	probably damaging	Het
Adgrg6	A	T	10: 14,343,082 (GRCm39)	D288E	probably benign	Het
Agbl1	A	G	7: 76,068,415 (GRCm39)	E327G		Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Alkal2	G	T	12: 30,934,850 (GRCm39)	G23V	probably damaging	Het
Arl3	A	T	19: 46,530,823 (GRCm39)	S157T	probably benign	Het
Armc3	A	T	2: 19,240,365 (GRCm39)	I41F	probably damaging	Het
Atg9a	A	C	1: 75,167,028 (GRCm39)	Y8D	probably damaging	Het
Atp10b	T	G	11: 43,093,984 (GRCm39)	H509Q	probably benign	Het
Cabyr	C	A	18: 12,883,804 (GRCm39)	T97K	probably benign	Het
Ccdc91	T	C	6: 147,438,920 (GRCm39)	F174S	possibly damaging	Het
Cep350	A	T	1: 155,798,164 (GRCm39)	H1207Q	probably benign	Het
Clstn3	A	T	6: 124,439,136 (GRCm39)	N40K	probably damaging	Het
Col4a4	G	A	1: 82,501,611 (GRCm39)	P381S	unknown	Het
Cpne5	A	T	17: 29,428,455 (GRCm39)	F116Y	probably benign	Het
Csf2rb2	T	C	15: 78,171,216 (GRCm39)	T457A	probably benign	Het
Cyb5d2	T	C	11: 72,679,959 (GRCm39)	E112G	probably benign	Het
Cyp2b13	T	C	7: 25,781,223 (GRCm39)	F212L	probably benign	Het
Dlx6	T	G	6: 6,863,779 (GRCm39)	S134A	probably benign	Het
Egln1	A	G	8: 125,638,489 (GRCm39)	Y380H	probably benign	Het
Fbxl13	A	T	5: 21,728,652 (GRCm39)	I479N	probably damaging	Het
Fhip1a	G	T	3: 85,580,027 (GRCm39)	P726Q	probably benign	Het
Fis1	A	G	5: 136,991,865 (GRCm39)	K20E	probably benign	Het
Foxk1	G	T	5: 142,387,528 (GRCm39)	V84L	unknown	Het
Gdf5	C	A	2: 155,784,272 (GRCm39)	G227W	probably damaging	Het
Ghrh	T	A	2: 157,175,656 (GRCm39)	T13S	probably benign	Het
Gnb2	A	G	5: 137,526,865 (GRCm39)	L308P	probably damaging	Het
Grik2	A	T	10: 49,148,863 (GRCm39)	V574D	probably damaging	Het
Hydin	A	T	8: 111,336,543 (GRCm39)	I5107F	possibly damaging	Het
Kl	A	T	5: 150,906,229 (GRCm39)	Y533F	probably benign	Het
Man2b1	G	T	8: 85,822,907 (GRCm39)	R816L	probably damaging	Het
Myo5c	T	C	9: 75,182,823 (GRCm39)	Y821H	probably damaging	Het
Myo7b	A	T	18: 32,092,866 (GRCm39)	C2076S	probably damaging	Het
Naip6	C	T	13: 100,436,784 (GRCm39)	A580T	possibly damaging	Het
Or13a24	A	T	7: 140,154,044 (GRCm39)		probably benign	Het
Osbpl9	T	C	4: 108,921,770 (GRCm39)	Y536C	possibly damaging	Het
Pcdh18	T	G	3: 49,710,998 (GRCm39)	I106L	probably damaging	Het
Pde4dip	T	C	3: 97,606,428 (GRCm39)	K2149E	probably benign	Het
Pds5a	A	T	5: 65,803,681 (GRCm39)	C588S	probably benign	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Pop1	T	C	15: 34,529,316 (GRCm39)	M812T	probably benign	Het
Pou2f3	T	C	9: 43,051,153 (GRCm39)	T178A	probably damaging	Het
Rab44	C	T	17: 29,359,294 (GRCm39)	A494V	unknown	Het
Ros1	G	C	10: 51,977,941 (GRCm39)	T1456S	possibly damaging	Het
Rubcnl	T	G	14: 75,289,425 (GRCm39)	F644L	probably damaging	Het
Saraf	C	T	8: 34,632,602 (GRCm39)	P227L	probably benign	Het
Sh3glb1	T	G	3: 144,397,198 (GRCm39)	E383D	probably damaging	Het
Sh3rf3	T	C	10: 58,919,407 (GRCm39)	V508A	probably damaging	Het
Sirt6	A	T	10: 81,458,328 (GRCm39)	H308Q	probably benign	Het
Slc29a1	T	A	17: 45,900,706 (GRCm39)	I119F	probably damaging	Het
Smtnl1	C	T	2: 84,648,742 (GRCm39)	E171K	probably benign	Het
Spg11	T	A	2: 121,923,923 (GRCm39)	E799D	probably damaging	Het
Tecpr1	A	T	5: 144,137,658 (GRCm39)	W894R	probably damaging	Het
Tiam2	A	C	17: 3,558,065 (GRCm39)	I1230L	possibly damaging	Het
Tnfrsf8	A	G	4: 145,019,265 (GRCm39)	L190P	probably damaging	Het
Trim35	C	T	14: 66,534,724 (GRCm39)	T69M	possibly damaging	Het
Ttll7	T	C	3: 146,645,779 (GRCm39)	Y546H	probably benign	Het
Ubash3b	C	T	9: 40,940,971 (GRCm39)	G389R	probably damaging	Het
Vma21-ps	C	T	4: 52,497,034 (GRCm39)	V71I	probably damaging	Het
Vmn1r43	T	A	6: 89,847,414 (GRCm39)	H24L	possibly damaging	Het
Vps37c	T	A	19: 10,687,719 (GRCm39)	L60Q	probably damaging	Het
Ythdf2	A	G	4: 131,931,946 (GRCm39)	W405R	probably damaging	Het
Zfp775	T	C	6: 48,597,637 (GRCm39)	C504R	probably damaging	Het
Zfp82	A	G	7: 29,761,652 (GRCm39)		probably null	Het
Zpr1	T	A	9: 46,185,400 (GRCm39)	I127N	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
R4877:Nectin2	UTSW	7	19,451,645 (GRCm39)	missense	possibly damaging	0.55
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
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'- GGTCCTTGCTGAACTGAGAGT -3'
(R):5'- GGTCAGGTGTGGTGACTCA -3'

Sequencing Primer
(F):5'- CTGAGAGTTGGGGAAATCCACTCC -3'
(R):5'- TTGTGAGTACAAGGCCACTC -3'

Posted On

2020-10-20