Mutagenetix > Incidental Mutation

Incidental Mutation 'R3825:Nectin2'

473983

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

040774-MU

Accession Numbers

Essential gene?

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

Stock #

R3825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

19450569-19483498 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19458510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 434 (K434E)

Ref Sequence

ENSEMBL: ENSMUSP00000104089 (fasta)

Gene Model

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

AlphaFold

P32507

Predicted Effect

probably benign
Transcript: ENSMUST00000075447

SMART Domains

Protein: ENSMUSP00000074898
Gene: ENSMUSG00000062300

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

possibly damaging
Transcript: ENSMUST00000108450
AA Change: K434E

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104089
Gene: ENSMUSG00000062300
AA Change: K434E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172483

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

98% (63/64)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030468B19Rik	A	G	11: 117,693,739 (GRCm39)	K69E	probably damaging	Het
Abcb5	C	T	12: 118,865,087 (GRCm39)		probably null	Het
Acot1	G	T	12: 84,061,194 (GRCm39)	G167*	probably null	Het
Agbl1	C	T	7: 76,069,715 (GRCm39)	H164Y	probably damaging	Het
Atp4b	T	C	8: 13,443,549 (GRCm39)	Y43C	probably damaging	Het
Bsn	T	C	9: 107,984,055 (GRCm39)	D3333G	unknown	Het
Ccdc27	A	C	4: 154,120,742 (GRCm39)	D351E	unknown	Het
Cd200r4	T	C	16: 44,641,313 (GRCm39)	F19L	probably benign	Het
Dbndd1	T	A	8: 124,236,731 (GRCm39)	I75F	probably damaging	Het
Dennd5b	T	C	6: 148,946,334 (GRCm39)	K426E	probably benign	Het
Drg2	A	G	11: 60,350,334 (GRCm39)	T98A	possibly damaging	Het
Fabp3	C	T	4: 130,206,245 (GRCm39)		probably null	Het
Fmo1	T	C	1: 162,678,916 (GRCm39)		probably benign	Het
Foxn2	A	T	17: 88,791,837 (GRCm39)	I236F	probably damaging	Het
Glmp	G	A	3: 88,233,718 (GRCm39)	V107I	probably damaging	Het
Gpr15	A	G	16: 58,538,723 (GRCm39)	F122S	probably damaging	Het
Gvin-ps3	T	C	7: 105,682,780 (GRCm39)	I158M	possibly damaging	Het
Hmcn1	A	T	1: 150,462,716 (GRCm39)	D5140E	probably benign	Het
Hspa1a	C	T	17: 35,190,703 (GRCm39)	V67M	probably damaging	Het
Igfbp4	A	G	11: 98,939,061 (GRCm39)	E27G	probably damaging	Het
Il7	A	G	3: 7,642,226 (GRCm39)		probably benign	Het
Kat6a	G	T	8: 23,352,380 (GRCm39)	V55F	probably damaging	Het
Kynu	A	G	2: 43,571,451 (GRCm39)	T456A	probably benign	Het
Lcorl	A	G	5: 45,932,729 (GRCm39)		probably benign	Het
Lrp5	G	A	19: 3,655,290 (GRCm39)	R1077*	probably null	Het
Mab21l2	T	C	3: 86,454,211 (GRCm39)	E263G	possibly damaging	Het
Macf1	T	A	4: 123,338,744 (GRCm39)	D1436V	probably benign	Het
Map4k2	C	A	19: 6,394,081 (GRCm39)	T252N	probably benign	Het
Mterf2	A	T	10: 84,956,147 (GRCm39)	L159Q	probably damaging	Het
Muc5ac	C	A	7: 141,368,460 (GRCm39)	T3063K	possibly damaging	Het
Myo18a	T	A	11: 77,668,292 (GRCm39)	S51T	possibly damaging	Het
Ncoa3	G	T	2: 165,896,718 (GRCm39)	G503V	possibly damaging	Het
Ncor1	A	T	11: 62,264,183 (GRCm39)	H406Q	probably benign	Het
Nipal2	A	T	15: 34,578,852 (GRCm39)		probably null	Het
Nub1	G	C	5: 24,912,851 (GRCm39)	S517T	probably benign	Het
Or10a4	T	C	7: 106,696,816 (GRCm39)	L48P	possibly damaging	Het
Or4d10c	A	G	19: 12,065,391 (GRCm39)	V255A	probably damaging	Het
Or8b101	A	T	9: 38,020,134 (GRCm39)	I51F	possibly damaging	Het
Or8c17	T	G	9: 38,179,814 (GRCm39)	S2A	probably benign	Het
Plscr3	G	A	11: 69,740,964 (GRCm39)	V267M	probably benign	Het
Plxnb2	G	T	15: 89,050,602 (GRCm39)	N451K	probably benign	Het
Ppp2r2a	A	G	14: 67,259,892 (GRCm39)	L268P	probably damaging	Het
Ptprb	A	T	10: 116,186,694 (GRCm39)	I1743F	probably benign	Het
Rack1	A	G	11: 48,693,131 (GRCm39)	T105A	probably benign	Het
Rhot1	G	A	11: 80,116,907 (GRCm39)	V94I	probably damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Smc6	T	A	12: 11,351,517 (GRCm39)		probably benign	Het
Spink8	T	A	9: 109,645,861 (GRCm39)	V11D	probably damaging	Het
Ss18l1	A	T	2: 179,705,103 (GRCm39)	Q365L	unknown	Het
Tbc1d31	T	A	15: 57,779,474 (GRCm39)	H62Q	probably benign	Het
Tbc1d9b	T	C	11: 50,061,954 (GRCm39)	V1171A	possibly damaging	Het
Tln1	G	A	4: 43,536,413 (GRCm39)		probably benign	Het
Tmem220	G	A	11: 66,916,077 (GRCm39)	A25T	possibly damaging	Het
Tmem259	T	C	10: 79,814,282 (GRCm39)	N334S	possibly damaging	Het
Tmod3	A	T	9: 75,414,809 (GRCm39)		probably benign	Het
Tmprss2	A	T	16: 97,398,021 (GRCm39)	Y52N	probably damaging	Het
Tsga10	A	T	1: 37,873,278 (GRCm39)	N200K	possibly damaging	Het
Ube2frt	T	C	12: 36,141,036 (GRCm39)		probably benign	Het
Vmn1r189	T	A	13: 22,286,382 (GRCm39)	T152S	probably benign	Het
Vmn2r76	C	T	7: 85,880,415 (GRCm39)	M90I	probably benign	Het
Zfr	C	T	15: 12,166,277 (GRCm39)	A849V	probably damaging	Het
Znhit6	T	C	3: 145,284,099 (GRCm39)	M95T	probably benign	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
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

Predicted Primers

Posted On

2017-04-14