Mutagenetix > Incidental Mutation

Incidental Mutation 'R8511:Nectin3'

655903

Institutional Source

Beutler Lab

Gene Symbol

Nectin3

Ensembl Gene

ENSMUSG00000022656

Gene Name

nectin cell adhesion molecule 3

Synonyms

2610301B19Rik, nectin-3, 3000002N23Rik, Pvrl3, 4921513D19Rik

MMRRC Submission

067888-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.272) question?

Stock #

R8511 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46208069-46318888 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46284363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 107 (P107L)

Ref Sequence

ENSEMBL: ENSMUSP00000023334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023334] [ENSMUST00000023335] [ENSMUST00000096052]

AlphaFold

Q9JLB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000023334
AA Change: P107L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023334
Gene: ENSMUSG00000022656
AA Change: P107L

Domain	Start	End	E-Value	Type
low complexity region	24	48	N/A	INTRINSIC
IG	63	167	5.04e-9	SMART
Pfam:C2-set_2	173	257	1.5e-19	PFAM
Pfam:Ig_3	284	342	3.1e-6	PFAM
low complexity region	358	367	N/A	INTRINSIC
transmembrane domain	404	426	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000023335
AA Change: P107L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000023335
Gene: ENSMUSG00000022656
AA Change: P107L

Domain	Start	End	E-Value	Type
low complexity region	24	48	N/A	INTRINSIC
IG	63	167	5.04e-9	SMART
Pfam:C2-set_2	173	257	2.5e-19	PFAM
Pfam:Ig_2	281	355	1.3e-6	PFAM
transmembrane domain	368	390	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000096052
AA Change: P107L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093757
Gene: ENSMUSG00000022656
AA Change: P107L

Domain	Start	End	E-Value	Type
low complexity region	24	48	N/A	INTRINSIC
IG	63	167	5.04e-9	SMART
Pfam:C2-set_2	173	257	2e-19	PFAM
Pfam:Ig_2	281	355	1e-6	PFAM
transmembrane domain	368	390	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000117479
Gene: ENSMUSG00000022656
AA Change: P106L

Domain	Start	End	E-Value	Type
low complexity region	24	48	N/A	INTRINSIC
IG	63	167	5.04e-9	SMART
Pfam:Ig_3	184	243	4.8e-5	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the nectin family of proteins, which function as adhesion molecules at adherens junctions. This family member interacts with other nectin-like proteins and with afadin, a filamentous actin-binding protein involved in the regulation of directional motility, cell proliferation and survival. This gene plays a role in ocular development involving the ciliary body. Mutations in this gene are believed to result in congenital ocular defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2011]
PHENOTYPE: Homozygous null mice exhibit male infertility and eye abnormalities including microphthalmia, absent vitreous body, abnormal ciliary body, retinal layers, and lenses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	T	C	11: 11,540,056 (GRCm39)	H186R	unknown	Het
6430548M08Rik	A	G	8: 120,879,301 (GRCm39)	N233S	probably benign	Het
Acan	A	G	7: 78,747,683 (GRCm39)	D818G	possibly damaging	Het
Adam22	G	A	5: 8,184,558 (GRCm39)	T478I	probably damaging	Het
Afg2a	A	G	3: 37,490,897 (GRCm39)	M481V	probably damaging	Het
Agmo	T	A	12: 37,294,396 (GRCm39)	*115R	probably null	Het
Ahnak	A	G	19: 8,989,719 (GRCm39)	K3668E	unknown	Het
Aldh6a1	G	A	12: 84,480,745 (GRCm39)	T430I	possibly damaging	Het
Ankrd11	T	C	8: 123,626,468 (GRCm39)	D17G		Het
Apol10b	T	C	15: 77,469,211 (GRCm39)	E322G	probably benign	Het
Apol10b	C	G	15: 77,469,210 (GRCm39)	E322D	probably benign	Het
Apol8	C	T	15: 77,634,273 (GRCm39)	G101E	probably benign	Het
Arhgef26	A	T	3: 62,336,350 (GRCm39)	M630L	probably damaging	Het
Aspm	T	C	1: 139,385,046 (GRCm39)	L230P	probably damaging	Het
Atg101	T	C	15: 101,188,503 (GRCm39)	S203P	probably damaging	Het
Baz2b	T	A	2: 59,732,158 (GRCm39)	T1996S	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cad	A	G	5: 31,233,165 (GRCm39)	K1869R	probably benign	Het
Caskin1	A	T	17: 24,724,910 (GRCm39)	I1233F	probably benign	Het
Ckap5	T	A	2: 91,445,492 (GRCm39)	L1770I	possibly damaging	Het
Clip1	T	C	5: 123,791,969 (GRCm39)	N67S	possibly damaging	Het
Csmd2	A	G	4: 128,262,692 (GRCm39)	N626S		Het
Cuedc2	C	A	19: 46,319,358 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,703,742 (GRCm39)	N1275Y	unknown	Het
Dnm3	A	G	1: 162,113,611 (GRCm39)	V483A	possibly damaging	Het
Dock9	A	T	14: 121,864,801 (GRCm39)	H718Q	probably benign	Het
Dock9	T	C	14: 121,918,847 (GRCm39)	D50G	probably damaging	Het
Egfr	T	G	11: 16,846,949 (GRCm39)	I782S	probably damaging	Het
Elmod1	A	T	9: 53,820,095 (GRCm39)	F298I	probably damaging	Het
Enthd1	T	C	15: 80,358,428 (GRCm39)	Q364R	probably damaging	Het
Fat2	T	A	11: 55,200,063 (GRCm39)	S1004C	probably damaging	Het
Fga	A	T	3: 82,939,064 (GRCm39)	K480*	probably null	Het
Fhod3	A	G	18: 25,265,994 (GRCm39)	T1561A	probably damaging	Het
Foxg1	T	A	12: 49,431,868 (GRCm39)	Y200*	probably null	Het
Foxj2	C	T	6: 122,808,404 (GRCm39)	R115*	probably null	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gpsm2	A	G	3: 108,589,399 (GRCm39)	S580P	probably benign	Het
Hectd1	A	G	12: 51,834,654 (GRCm39)	S870P	probably benign	Het
Hic2	T	A	16: 17,075,874 (GRCm39)	N234K	possibly damaging	Het
Ica1	A	G	6: 8,754,726 (GRCm39)	F15L	probably benign	Het
Immp1l	G	A	2: 105,761,100 (GRCm39)	R3H	probably benign	Het
Iqca1l	T	A	5: 24,750,906 (GRCm39)	H559L	possibly damaging	Het
Jak3	T	A	8: 72,138,194 (GRCm39)	Y882N	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Luzp1	A	G	4: 136,268,650 (GRCm39)	D291G	probably damaging	Het
Map3k19	C	T	1: 127,775,155 (GRCm39)	E61K	possibly damaging	Het
Mical3	A	G	6: 121,015,513 (GRCm39)	I175T	possibly damaging	Het
Or10d5	A	G	9: 39,861,455 (GRCm39)	V204A	probably benign	Het
Pira1	A	G	7: 3,742,347 (GRCm39)	L60P	probably damaging	Het
Polr1a	C	A	6: 71,897,504 (GRCm39)	H207N	probably benign	Het
Prokr2	A	G	2: 132,223,422 (GRCm39)	V40A	probably benign	Het
Prtg	T	C	9: 72,798,156 (GRCm39)		probably null	Het
Ptprs	G	A	17: 56,754,440 (GRCm39)	T200I	probably damaging	Het
Ramp3	C	T	11: 6,626,709 (GRCm39)	R139C	probably benign	Het
Scfd2	A	G	5: 74,372,949 (GRCm39)	V642A	possibly damaging	Het
Scn11a	T	C	9: 119,618,981 (GRCm39)	K787R	probably damaging	Het
Slco3a1	A	G	7: 73,952,990 (GRCm39)	V523A	probably benign	Het
Smo	A	G	6: 29,755,531 (GRCm39)	Y401C	probably damaging	Het
Stmn2	A	G	3: 8,574,615 (GRCm39)		probably benign	Het
Stra6l	G	T	4: 45,885,347 (GRCm39)	G605V	probably benign	Het
Syne2	A	G	12: 76,055,647 (GRCm39)	I4170V	probably benign	Het
Tgm7	T	A	2: 120,924,141 (GRCm39)	I594F	probably damaging	Het
Tle2	T	C	10: 81,423,830 (GRCm39)	L648P	probably damaging	Het
Tmprss2	G	T	16: 97,369,662 (GRCm39)	L371I	possibly damaging	Het
Ttn	T	C	2: 76,579,866 (GRCm39)	R23676G	probably damaging	Het
Tvp23b	T	C	11: 62,774,563 (GRCm39)	I69T	possibly damaging	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	A	T	17: 19,614,443 (GRCm39)	D721V	probably damaging	Het
Zan	A	T	5: 137,445,108 (GRCm39)	V1717E	unknown	Het
Zmiz2	C	T	11: 6,353,190 (GRCm39)	H658Y	probably damaging	Het

Other mutations in Nectin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01456:Nectin3	APN	16	46,279,216 (GRCm39)	missense	probably benign	0.23
R0373:Nectin3	UTSW	16	46,278,550 (GRCm39)	missense	probably damaging	0.99
R0550:Nectin3	UTSW	16	46,279,183 (GRCm39)	missense	possibly damaging	0.86
R1219:Nectin3	UTSW	16	46,275,042 (GRCm39)	nonsense	probably null
R1251:Nectin3	UTSW	16	46,284,205 (GRCm39)	missense	possibly damaging	0.82
R1398:Nectin3	UTSW	16	46,269,119 (GRCm39)	missense	possibly damaging	0.95
R1439:Nectin3	UTSW	16	46,268,757 (GRCm39)	nonsense	probably null
R2250:Nectin3	UTSW	16	46,275,099 (GRCm39)	missense	probably benign	0.00
R2448:Nectin3	UTSW	16	46,268,878 (GRCm39)	splice site	probably null
R2483:Nectin3	UTSW	16	46,215,542 (GRCm39)	missense	possibly damaging	0.83
R4523:Nectin3	UTSW	16	46,268,953 (GRCm39)	missense	probably benign	0.15
R4709:Nectin3	UTSW	16	46,284,306 (GRCm39)	missense	possibly damaging	0.58
R4809:Nectin3	UTSW	16	46,268,523 (GRCm39)	intron	probably benign
R4884:Nectin3	UTSW	16	46,269,249 (GRCm39)	missense	probably benign	0.01
R5051:Nectin3	UTSW	16	46,268,913 (GRCm39)	missense	possibly damaging	0.95
R5061:Nectin3	UTSW	16	46,268,812 (GRCm39)	missense	probably benign	0.03
R5272:Nectin3	UTSW	16	46,268,839 (GRCm39)	missense	possibly damaging	0.82
R5365:Nectin3	UTSW	16	46,284,469 (GRCm39)	nonsense	probably null
R5768:Nectin3	UTSW	16	46,279,180 (GRCm39)	missense	probably damaging	0.98
R5987:Nectin3	UTSW	16	46,284,508 (GRCm39)	missense	probably benign	0.00
R6029:Nectin3	UTSW	16	46,256,763 (GRCm39)	missense	probably benign	0.08
R6131:Nectin3	UTSW	16	46,215,515 (GRCm39)	missense	probably damaging	0.98
R6251:Nectin3	UTSW	16	46,215,513 (GRCm39)	missense	probably damaging	0.99
R6299:Nectin3	UTSW	16	46,284,345 (GRCm39)	missense	probably damaging	0.98
R6347:Nectin3	UTSW	16	46,278,487 (GRCm39)	missense	probably benign	0.01
R6360:Nectin3	UTSW	16	46,231,472 (GRCm39)	missense	probably benign	0.09
R6505:Nectin3	UTSW	16	46,269,184 (GRCm39)	missense	possibly damaging	0.68
R6703:Nectin3	UTSW	16	46,284,205 (GRCm39)	missense	probably damaging	0.99
R6869:Nectin3	UTSW	16	46,215,506 (GRCm39)	missense	probably damaging	0.96
R7184:Nectin3	UTSW	16	46,215,484 (GRCm39)	missense	possibly damaging	0.66
R7298:Nectin3	UTSW	16	46,268,759 (GRCm39)	missense	probably damaging	1.00
R7455:Nectin3	UTSW	16	46,317,105 (GRCm39)	nonsense	probably null
R7973:Nectin3	UTSW	16	46,216,484 (GRCm39)	missense	probably benign	0.13
R7993:Nectin3	UTSW	16	46,279,184 (GRCm39)	missense	probably benign	0.01
R8108:Nectin3	UTSW	16	46,284,484 (GRCm39)	missense	possibly damaging	0.84
R8259:Nectin3	UTSW	16	46,256,754 (GRCm39)	missense	probably benign	0.00
R8971:Nectin3	UTSW	16	46,269,265 (GRCm39)	missense	probably benign
R9195:Nectin3	UTSW	16	46,279,259 (GRCm39)	nonsense	probably null
R9264:Nectin3	UTSW	16	46,274,998 (GRCm39)	missense	probably damaging	1.00
R9492:Nectin3	UTSW	16	46,215,511 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCTAGACATACACAGCTTTAAG -3'
(R):5'- TCCCTATAGGTGCCTTAGCTG -3'

Sequencing Primer
(F):5'- CCTAACACAGTCACTGTTGTAGAGG -3'
(R):5'- CTGGATCAATTATTGTGGAGCCAC -3'

Posted On

2020-10-20