Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Nectin3'

30650

Institutional Source

Beutler Lab

Gene Symbol

Nectin3

Ensembl Gene

ENSMUSG00000022656

Gene Name

nectin cell adhesion molecule 3

Synonyms

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

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.396) question?

Stock #

R0373 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46387706-46498525 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 46458187 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 282 (V282M)

Ref Sequence

ENSEMBL: ENSMUSP00000093757 (fasta)

Gene Model

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

AlphaFold

Q9JLB9

Predicted Effect

probably damaging
Transcript: ENSMUST00000023334
AA Change: V282M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023334
Gene: ENSMUSG00000022656
AA Change: V282M

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: V282M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023335
Gene: ENSMUSG00000022656
AA Change: V282M

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: V282M

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093757
Gene: ENSMUSG00000022656
AA Change: V282M

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

noncoding transcript
Transcript: ENSMUST00000133935

Predicted Effect

unknown
Transcript: ENSMUST00000149901
AA Change: V182M

SMART Domains

Protein: ENSMUSP00000117479
Gene: ENSMUSG00000022656
AA Change: V182M

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: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655	V364D	probably benign	Het
Akap13	T	C	7: 75,609,929	L767P	probably benign	Het
Akap13	T	A	7: 75,730,500	S2193T	probably damaging	Het
Anapc11	T	C	11: 120,605,377	V69A	probably benign	Het
Ankmy1	C	T	1: 92,896,190	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426		probably benign	Het
Def6	A	G	17: 28,220,180	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700		probably null	Het
Fam205a1	T	C	4: 42,851,161	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270	T206M	probably benign	Het
Gls	T	C	1: 52,188,699	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149		noncoding transcript	Het
Myh15	A	G	16: 49,182,959	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881	N57S	probably benign	Het
Nup188	G	T	2: 30,330,988	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805	C177*	probably null	Het
Opcml	A	G	9: 28,813,398	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024		probably benign	Het
Prpsap2	A	G	11: 61,741,000	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522	Y322H	probably benign	Het

Other mutations in Nectin3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01456:Nectin3	APN	16	46458853	missense	probably benign	0.23
R0550:Nectin3	UTSW	16	46458820	missense	possibly damaging	0.86
R1219:Nectin3	UTSW	16	46454679	nonsense	probably null
R1251:Nectin3	UTSW	16	46463842	missense	possibly damaging	0.82
R1398:Nectin3	UTSW	16	46448756	missense	possibly damaging	0.95
R1439:Nectin3	UTSW	16	46448394	nonsense	probably null
R2250:Nectin3	UTSW	16	46454736	missense	probably benign	0.00
R2448:Nectin3	UTSW	16	46448515	splice site	probably null
R2483:Nectin3	UTSW	16	46395179	missense	possibly damaging	0.83
R4523:Nectin3	UTSW	16	46448590	missense	probably benign	0.15
R4709:Nectin3	UTSW	16	46463943	missense	possibly damaging	0.58
R4809:Nectin3	UTSW	16	46448160	intron	probably benign
R4884:Nectin3	UTSW	16	46448886	missense	probably benign	0.01
R5051:Nectin3	UTSW	16	46448550	missense	possibly damaging	0.95
R5061:Nectin3	UTSW	16	46448449	missense	probably benign	0.03
R5272:Nectin3	UTSW	16	46448476	missense	possibly damaging	0.82
R5365:Nectin3	UTSW	16	46464106	nonsense	probably null
R5768:Nectin3	UTSW	16	46458817	missense	probably damaging	0.98
R5987:Nectin3	UTSW	16	46464145	missense	probably benign	0.00
R6029:Nectin3	UTSW	16	46436400	missense	probably benign	0.08
R6131:Nectin3	UTSW	16	46395152	missense	probably damaging	0.98
R6251:Nectin3	UTSW	16	46395150	missense	probably damaging	0.99
R6299:Nectin3	UTSW	16	46463982	missense	probably damaging	0.98
R6347:Nectin3	UTSW	16	46458124	missense	probably benign	0.01
R6360:Nectin3	UTSW	16	46411109	missense	probably benign	0.09
R6505:Nectin3	UTSW	16	46448821	missense	possibly damaging	0.68
R6703:Nectin3	UTSW	16	46463842	missense	probably damaging	0.99
R6869:Nectin3	UTSW	16	46395143	missense	probably damaging	0.96
R7184:Nectin3	UTSW	16	46395121	missense	possibly damaging	0.66
R7298:Nectin3	UTSW	16	46448396	missense	probably damaging	1.00
R7455:Nectin3	UTSW	16	46496742	nonsense	probably null
R7973:Nectin3	UTSW	16	46396121	missense	probably benign	0.13
R7993:Nectin3	UTSW	16	46458821	missense	probably benign	0.01
R8108:Nectin3	UTSW	16	46464121	missense	possibly damaging	0.84
R8259:Nectin3	UTSW	16	46436391	missense	probably benign	0.00
R8511:Nectin3	UTSW	16	46464000	missense	probably damaging	1.00
R8971:Nectin3	UTSW	16	46448902	missense	probably benign
R9195:Nectin3	UTSW	16	46458896	nonsense	probably null
R9264:Nectin3	UTSW	16	46454635	missense	probably damaging	1.00
R9492:Nectin3	UTSW	16	46395148	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGCTAAAATCTCTAACACTGCTGCCAG -3'
(R):5'- TTGCCTTCCCGAGTGATTATGCTG -3'

Sequencing Primer
(F):5'- AACACTGCTGCCAGTATCCTG -3'
(R):5'- CCCGAGTGATTATGCTGAAAGTAAAG -3'

Posted On

2013-04-24