Mutagenetix > Incidental Mutation

Incidental Mutation 'R7318:Nectin4'

565623

Institutional Source

Beutler Lab

Gene Symbol

Nectin4

Ensembl Gene

ENSMUSG00000006411

Gene Name

nectin cell adhesion molecule 4

Synonyms

Pvrl4, 1200017F15Rik, nectin 4, Prr4

MMRRC Submission

045414-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7318 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171197741-171215855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 171208031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 141 (R141L)

Ref Sequence

ENSEMBL: ENSMUSP00000006578 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006578] [ENSMUST00000094325] [ENSMUST00000111286]

AlphaFold

Q8R007

Predicted Effect

probably benign
Transcript: ENSMUST00000006578
AA Change: R141L

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000006578
Gene: ENSMUSG00000006411
AA Change: R141L

Domain	Start	End	E-Value	Type
IG	36	145	9.26e-8	SMART
Pfam:Ig_2	147	241	4e-4	PFAM
Pfam:C2-set_2	150	233	9e-17	PFAM
IGc2	259	321	9.78e-7	SMART
transmembrane domain	348	370	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094325
AA Change: R141L

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000091883
Gene: ENSMUSG00000006411
AA Change: R141L

Domain	Start	End	E-Value	Type
IG	36	145	9.26e-8	SMART
Pfam:Ig_2	147	241	2.1e-4	PFAM
Pfam:C2-set_2	150	233	8.7e-17	PFAM
IGc2	259	321	9.78e-7	SMART
transmembrane domain	348	370	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111286
AA Change: R141L

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106917
Gene: ENSMUSG00000006411
AA Change: R141L

Domain	Start	End	E-Value	Type
IG	100	209	9.26e-8	SMART
Pfam:C2-set_2	214	297	1.2e-16	PFAM
IGc2	323	385	9.78e-7	SMART
transmembrane domain	412	434	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (67/67)

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. The encoded protein contains two immunoglobulin-like (Ig-like) C2-type domains and one Ig-like V-type domain. It is involved in cell adhesion through trans-homophilic and -heterophilic interactions. It is a single-pass type I membrane protein. The soluble form is produced by proteolytic cleavage at the cell surface by the metalloproteinase ADAM17/TACE. The secreted form is found in both breast tumor cell lines and breast tumor patients. Mutations in this gene are the cause of ectodermal dysplasia-syndactyly syndrome type 1, an autosomal recessive disorder. Alternatively spliced transcript variants have been found but the full-length nature of the variant has not been determined.[provided by RefSeq, Jan 2011]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	T	C	7: 40,643,111 (GRCm39)	L260S	probably benign	Het
9130230L23Rik	A	T	5: 66,145,771 (GRCm39)	S113R	unknown	Het
Abcc5	G	A	16: 20,211,293 (GRCm39)	P557S	probably benign	Het
Acad11	A	G	9: 103,958,466 (GRCm39)	T245A	probably damaging	Het
Acap2	A	G	16: 30,946,155 (GRCm39)	F263L	probably damaging	Het
Ankle2	A	T	5: 110,385,632 (GRCm39)	N327I	probably benign	Het
Appl1	T	C	14: 26,685,617 (GRCm39)	E67G	probably benign	Het
Arfgef3	A	T	10: 18,506,211 (GRCm39)	C864S	possibly damaging	Het
Arhgap20	A	G	9: 51,751,802 (GRCm39)	I418V	probably benign	Het
Arhgef2	A	T	3: 88,539,610 (GRCm39)	N102Y	probably damaging	Het
Car9	G	T	4: 43,513,089 (GRCm39)	E431D	probably damaging	Het
Cbfa2t2	T	C	2: 154,342,374 (GRCm39)	I30T	probably benign	Het
Cd40	A	T	2: 164,904,255 (GRCm39)	D34V	possibly damaging	Het
Chrnb2	T	A	3: 89,670,674 (GRCm39)		probably null	Het
Chsy1	T	G	7: 65,759,977 (GRCm39)		probably null	Het
Cpne6	A	G	14: 55,751,751 (GRCm39)	T245A	possibly damaging	Het
Cpsf1	T	A	15: 76,481,475 (GRCm39)	K1159*	probably null	Het
Crisp1	T	A	17: 40,618,668 (GRCm39)	E64D	possibly damaging	Het
D3Ertd751e	A	G	3: 41,756,986 (GRCm39)		probably null	Het
Dennd11	A	G	6: 40,386,098 (GRCm39)	V333A	possibly damaging	Het
Dnah7b	T	A	1: 46,234,532 (GRCm39)	L1488Q	probably damaging	Het
Dnm2	G	A	9: 21,416,863 (GRCm39)	G799R	possibly damaging	Het
Elp2	G	A	18: 24,739,956 (GRCm39)	V61I	probably damaging	Het
Epb41l3	T	C	17: 69,573,135 (GRCm39)	L388P		Het
Fry	A	T	5: 150,360,458 (GRCm39)	S2035C	probably damaging	Het
Gas8	T	C	8: 124,257,707 (GRCm39)	F385L	probably benign	Het
Ghsr	T	C	3: 27,426,616 (GRCm39)	V224A	possibly damaging	Het
Gstp2	T	A	19: 4,091,065 (GRCm39)	R85W	probably benign	Het
Ighv1-20	T	A	12: 114,687,810 (GRCm39)	I6F	possibly damaging	Het
Inpp4b	T	A	8: 82,798,374 (GRCm39)	M854K	probably damaging	Het
Kif15	A	G	9: 122,817,014 (GRCm39)	E538G	probably damaging	Het
Large2	T	C	2: 92,196,373 (GRCm39)	T485A	probably benign	Het
Lmo3	T	A	6: 138,398,363 (GRCm39)		probably benign	Het
Lyg1	G	A	1: 37,988,936 (GRCm39)	P95S	probably benign	Het
Lyst	A	G	13: 13,932,028 (GRCm39)	H3552R	probably benign	Het
Mtif2	C	T	11: 29,490,115 (GRCm39)	S385L	probably benign	Het
Muc4	A	T	16: 32,575,710 (GRCm39)	I1737F	unknown	Het
Mug1	T	C	6: 121,847,611 (GRCm39)		probably null	Het
Mx1	G	T	16: 97,253,286 (GRCm39)	Q350K	probably benign	Het
Mylk3	G	T	8: 86,085,726 (GRCm39)	D269E	probably benign	Het
Myo3a	A	T	2: 22,448,332 (GRCm39)	K974*	probably null	Het
Nlgn2	T	C	11: 69,716,795 (GRCm39)	H582R	probably damaging	Het
Or51ab3	T	A	7: 103,201,298 (GRCm39)	M102K	probably damaging	Het
Or51e1	T	A	7: 102,359,226 (GRCm39)	Y253*	probably null	Het
Pi16	C	A	17: 29,538,208 (GRCm39)	P7Q	possibly damaging	Het
Psmd11	C	A	11: 80,347,128 (GRCm39)	L171I	probably benign	Het
Rad54l	A	G	4: 115,967,906 (GRCm39)	V152A	possibly damaging	Het
Ranbp2	T	A	10: 58,318,909 (GRCm39)	Y2473*	probably null	Het
Sertad1	T	C	7: 27,188,910 (GRCm39)	I77T	possibly damaging	Het
Sesn3	A	T	9: 14,219,873 (GRCm39)	E87D	probably damaging	Het
Slc30a5	A	T	13: 100,950,477 (GRCm39)	S260R	probably benign	Het
Slc6a12	G	A	6: 121,328,972 (GRCm39)	G111S	probably damaging	Het
Slc6a12	T	C	6: 121,328,978 (GRCm39)	Y113H	probably benign	Het
Spag17	T	G	3: 99,847,299 (GRCm39)	M76R	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Stard13	G	A	5: 150,986,038 (GRCm39)	Q491*	probably null	Het
Synpo2	T	C	3: 122,910,968 (GRCm39)	S226G	probably benign	Het
Tada2b	G	A	5: 36,641,331 (GRCm39)	T24I	probably benign	Het
Tafa1	T	C	6: 96,092,737 (GRCm39)		probably null	Het
Tmem51	TCCCC	TCCC	4: 141,764,996 (GRCm39)		probably null	Het
Tnnt1	T	A	7: 4,513,547 (GRCm39)		probably null	Het
Usp17lb	T	C	7: 104,490,340 (GRCm39)	I196V	probably benign	Het
Utp20	T	A	10: 88,649,811 (GRCm39)	K466N	possibly damaging	Het
Wdr46	T	C	17: 34,160,859 (GRCm39)		probably null	Het
Zfp287	T	A	11: 62,605,104 (GRCm39)	Q601L	probably damaging	Het
Zfp410	T	C	12: 84,372,464 (GRCm39)	S97P	probably benign	Het

Other mutations in Nectin4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00819:Nectin4	APN	1	171,212,254 (GRCm39)	missense	probably damaging	1.00
IGL01558:Nectin4	APN	1	171,212,257 (GRCm39)	missense	probably benign	0.00
IGL02608:Nectin4	APN	1	171,212,341 (GRCm39)	missense	probably benign	0.05
R2047:Nectin4	UTSW	1	171,212,720 (GRCm39)	missense	possibly damaging	0.61
R2203:Nectin4	UTSW	1	171,213,797 (GRCm39)	missense	possibly damaging	0.78
R2518:Nectin4	UTSW	1	171,207,776 (GRCm39)	missense	probably benign	0.00
R4125:Nectin4	UTSW	1	171,213,301 (GRCm39)	missense	probably benign	0.02
R4708:Nectin4	UTSW	1	171,212,714 (GRCm39)	missense	probably benign	0.02
R4856:Nectin4	UTSW	1	171,212,383 (GRCm39)	missense	possibly damaging	0.46
R4886:Nectin4	UTSW	1	171,212,383 (GRCm39)	missense	possibly damaging	0.46
R5222:Nectin4	UTSW	1	171,212,825 (GRCm39)	splice site	probably null
R5264:Nectin4	UTSW	1	171,211,273 (GRCm39)	missense	probably benign	0.00
R5661:Nectin4	UTSW	1	171,212,738 (GRCm39)	missense	probably damaging	1.00
R6466:Nectin4	UTSW	1	171,214,321 (GRCm39)	missense	probably damaging	1.00
R6714:Nectin4	UTSW	1	171,198,218 (GRCm39)	start gained	probably benign
R7272:Nectin4	UTSW	1	171,214,212 (GRCm39)	missense	probably damaging	1.00
R7302:Nectin4	UTSW	1	171,214,203 (GRCm39)	nonsense	probably null
R7669:Nectin4	UTSW	1	171,207,827 (GRCm39)	missense	probably benign	0.00
R7732:Nectin4	UTSW	1	171,214,246 (GRCm39)	missense	probably benign	0.00
R7751:Nectin4	UTSW	1	171,211,326 (GRCm39)	critical splice donor site	probably null
R7912:Nectin4	UTSW	1	171,207,941 (GRCm39)	missense	possibly damaging	0.86
R7993:Nectin4	UTSW	1	171,211,322 (GRCm39)	missense	probably damaging	1.00
R8029:Nectin4	UTSW	1	171,214,255 (GRCm39)	missense	probably benign	0.04
R8306:Nectin4	UTSW	1	171,211,325 (GRCm39)	missense	probably null	1.00
R8314:Nectin4	UTSW	1	171,212,295 (GRCm39)	missense	probably benign	0.44
R8475:Nectin4	UTSW	1	171,212,280 (GRCm39)	nonsense	probably null
R8807:Nectin4	UTSW	1	171,211,282 (GRCm39)	missense	probably damaging	1.00
R9054:Nectin4	UTSW	1	171,214,351 (GRCm39)	missense	probably damaging	1.00
R9383:Nectin4	UTSW	1	171,213,251 (GRCm39)	missense	probably damaging	1.00
R9526:Nectin4	UTSW	1	171,210,209 (GRCm39)	nonsense	probably null
R9580:Nectin4	UTSW	1	171,211,324 (GRCm39)	missense	probably damaging	1.00
R9667:Nectin4	UTSW	1	171,210,165 (GRCm39)	missense	probably damaging	1.00
R9782:Nectin4	UTSW	1	171,214,192 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTGCACTCCAAATACGGG -3'
(R):5'- GGATTATTCCACAGCTTCGGC -3'

Sequencing Primer
(F):5'- ATACGGGCTTCATGTGAACC -3'
(R):5'- CGGCGGCTTTTGGAGAGAATTTC -3'

Posted On

2019-06-26