Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01982:Nectin2'

182777

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nectin2

Ensembl Gene

ENSMUSG00000062300

Gene Name

nectin cell adhesion molecule 2

Synonyms

Pvrl2, Cd112, nectin-2, MPH, Pvs

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

IGL01982

Quality Score

Status

Chromosome

Chromosomal Location

19450569-19483498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 19451487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 516 (S516P)

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

probably damaging
Transcript: ENSMUST00000075447
AA Change: S516P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074898
Gene: ENSMUSG00000062300
AA Change: S516P

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

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 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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	C	1: 71,385,857 (GRCm39)	S254A	probably benign	Het
Abca7	T	G	10: 79,838,475 (GRCm39)	L583R	probably damaging	Het
Acp1	A	T	12: 30,961,491 (GRCm39)	L14H	possibly damaging	Het
Adar	A	G	3: 89,645,397 (GRCm39)	I3V	probably benign	Het
Adh4	C	T	3: 138,134,788 (GRCm39)		probably benign	Het
Aldh1l1	A	G	6: 90,536,845 (GRCm39)	I103V	probably benign	Het
Asic3	C	A	5: 24,622,719 (GRCm39)	T523N	probably benign	Het
Aspm	T	C	1: 139,419,326 (GRCm39)	V1732A	probably benign	Het
Atad3a	C	T	4: 155,838,384 (GRCm39)	R211Q	possibly damaging	Het
Bahcc1	A	G	11: 120,178,299 (GRCm39)	Y2286C	probably damaging	Het
BC034090	T	C	1: 155,099,078 (GRCm39)	E569G	probably damaging	Het
Bpifb3	A	G	2: 153,767,521 (GRCm39)	N237S	probably benign	Het
Bysl	C	A	17: 47,921,996 (GRCm39)		probably null	Het
C2cd6	T	C	1: 59,106,932 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,861,003 (GRCm39)	F925L	probably damaging	Het
Cdca2	A	T	14: 67,915,168 (GRCm39)	V697E	probably damaging	Het
Cers1	A	G	8: 70,776,081 (GRCm39)	D324G	probably damaging	Het
Ctsq	T	A	13: 61,186,732 (GRCm39)	I91F	probably benign	Het
Ctsq	C	T	13: 61,187,335 (GRCm39)	C11Y	probably benign	Het
Cyp11b1	T	C	15: 74,711,252 (GRCm39)	N142S	possibly damaging	Het
Cyp3a59	G	T	5: 146,041,545 (GRCm39)	S363I	probably benign	Het
Eps15l1	A	T	8: 73,132,919 (GRCm39)	D567E	probably benign	Het
Esf1	G	A	2: 140,006,448 (GRCm39)	A233V	probably benign	Het
Fras1	A	T	5: 96,887,107 (GRCm39)	I2630F	possibly damaging	Het
Fyb1	A	T	15: 6,609,658 (GRCm39)	E77V	probably null	Het
Gjb6	C	A	14: 57,362,030 (GRCm39)	W77L	probably damaging	Het
Gm21983	A	G	7: 26,879,703 (GRCm39)	V88A	possibly damaging	Het
Gm8247	A	G	14: 44,823,088 (GRCm39)	T52A	probably damaging	Het
Gpr108	T	C	17: 57,544,877 (GRCm39)	K329E	probably damaging	Het
Gpr141	T	A	13: 19,935,908 (GRCm39)	H289L	probably benign	Het
Ilvbl	T	C	10: 78,414,856 (GRCm39)	Y240H	probably damaging	Het
Kntc1	G	A	5: 123,947,159 (GRCm39)	A1868T	probably benign	Het
Lrmda	A	C	14: 22,634,550 (GRCm39)	N112T	probably damaging	Het
Ly75	T	C	2: 60,142,108 (GRCm39)	Y1334C	probably damaging	Het
Macc1	C	A	12: 119,409,369 (GRCm39)	P46T	probably benign	Het
Madd	A	T	2: 91,006,052 (GRCm39)	F381Y	probably damaging	Het
Map3k20	C	T	2: 72,128,677 (GRCm39)	Q38*	probably null	Het
Mcm4	A	T	16: 15,448,284 (GRCm39)	D424E	possibly damaging	Het
Micu1	T	A	10: 59,699,100 (GRCm39)	M463K	possibly damaging	Het
Mkrn2os	A	G	6: 115,562,492 (GRCm39)	L157P	probably damaging	Het
Nme5	T	A	18: 34,702,928 (GRCm39)	D120V	probably damaging	Het
Npy4r	T	C	14: 33,869,282 (GRCm39)	N2S	possibly damaging	Het
Nup107	A	T	10: 117,595,245 (GRCm39)		probably benign	Het
Omd	T	C	13: 49,742,973 (GRCm39)	Y8H	possibly damaging	Het
Phf8-ps	T	G	17: 33,285,289 (GRCm39)	E504D	probably benign	Het
Ppp1r15a	T	C	7: 45,173,803 (GRCm39)		probably benign	Het
Ppp2ca	T	C	11: 51,989,891 (GRCm39)	F6L	probably benign	Het
Rab1a	T	C	11: 20,174,717 (GRCm39)	S97P	probably benign	Het
Ranbp3l	G	A	15: 9,058,827 (GRCm39)	G359R	probably damaging	Het
Rnf213	A	T	11: 119,334,094 (GRCm39)	H3101L	probably damaging	Het
Slc27a4	T	C	2: 29,702,627 (GRCm39)	F509S	probably damaging	Het
Slco4a1	T	C	2: 180,114,946 (GRCm39)	V623A	probably benign	Het
Spart	T	A	3: 55,035,911 (GRCm39)		probably null	Het
Sptan1	A	G	2: 29,909,980 (GRCm39)	D1780G	probably damaging	Het
Tgm7	G	T	2: 120,924,106 (GRCm39)	Y605*	probably null	Het
Tmem106b	T	C	6: 13,071,968 (GRCm39)		probably benign	Het
Trak2	G	A	1: 58,965,814 (GRCm39)	A120V	possibly damaging	Het
Trappc8	G	A	18: 21,007,769 (GRCm39)		probably benign	Het
Trim66	T	C	7: 109,057,970 (GRCm39)	T973A	probably benign	Het
Ttyh3	C	A	5: 140,621,829 (GRCm39)		probably benign	Het
Ugt2b37	A	C	5: 87,390,291 (GRCm39)	I385S	probably damaging	Het
Usf3	A	G	16: 44,039,180 (GRCm39)	N1220S	possibly damaging	Het
Utrn	A	T	10: 12,623,773 (GRCm39)	I155N	probably damaging	Het
Vps13b	C	T	15: 35,439,050 (GRCm39)	Q377*	probably null	Het
Washc2	A	T	6: 116,213,150 (GRCm39)	E570D	probably benign	Het
Wscd1	T	C	11: 71,657,699 (GRCm39)	V168A	possibly damaging	Het
Zfp386	T	A	12: 116,022,788 (GRCm39)	C169S	probably benign	Het

Other mutations in Nectin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-05-07