Mutagenetix > Incidental Mutation

Incidental Mutation 'R7993:Nectin4'

651842

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

046034-MU

Accession Numbers

Essential gene?

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

Stock #

R7993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

171197741-171215855 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 171211322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 282 (T282I)

Ref Sequence

ENSEMBL: ENSMUSP00000006578 (fasta)

Gene Model

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

AlphaFold

Q8R007

Predicted Effect

probably damaging
Transcript: ENSMUST00000006578
AA Change: T282I

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

SMART Domains

Protein: ENSMUSP00000006578
Gene: ENSMUSG00000006411
AA Change: T282I

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 damaging
Transcript: ENSMUST00000094325
AA Change: T282I

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

SMART Domains

Protein: ENSMUSP00000091883
Gene: ENSMUSG00000006411
AA Change: T282I

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 damaging
Transcript: ENSMUST00000111286
AA Change: T282I

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

SMART Domains

Protein: ENSMUSP00000106917
Gene: ENSMUSG00000006411
AA Change: T282I

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: 99.5%
20x: 98.3%

Validation Efficiency

100% (69/69)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,803,231 (GRCm39)	V689D	possibly damaging	Het
Adamts17	T	C	7: 66,499,612 (GRCm39)	V53A	possibly damaging	Het
Adcy9	T	C	16: 4,235,866 (GRCm39)	N515S	probably damaging	Het
Aoc1l3	T	A	6: 48,964,542 (GRCm39)	N183K	possibly damaging	Het
Atp1a2	A	G	1: 172,118,878 (GRCm39)	V88A	possibly damaging	Het
Atp1a3	T	C	7: 24,700,406 (GRCm39)		probably null	Het
Baz2a	T	C	10: 127,961,491 (GRCm39)	F1706L	probably benign	Het
Cacnb2	A	C	2: 14,968,731 (GRCm39)	N199T	probably benign	Het
Caskin1	T	A	17: 24,718,279 (GRCm39)	Y296*	probably null	Het
Cemip	C	A	7: 83,613,383 (GRCm39)	G605V	probably damaging	Het
Ciart	T	A	3: 95,786,206 (GRCm39)	K290*	probably null	Het
Cideb	G	T	14: 55,995,899 (GRCm39)		probably benign	Het
Copg2	A	T	6: 30,793,097 (GRCm39)	Y413N	probably damaging	Het
Csrp1	T	A	1: 135,674,453 (GRCm39)		probably null	Het
Cyp2j8	C	T	4: 96,335,456 (GRCm39)		probably null	Het
Dcbld1	T	A	10: 52,137,884 (GRCm39)	Y49*	probably null	Het
Dpep1	T	C	8: 123,927,460 (GRCm39)	V338A	possibly damaging	Het
Exoc2	A	G	13: 31,090,713 (GRCm39)		probably null	Het
Fcho2	A	T	13: 98,888,524 (GRCm39)		probably null	Het
Foxd3	C	T	4: 99,544,841 (GRCm39)		probably benign	Het
Gabbr2	C	T	4: 46,736,349 (GRCm39)		probably null	Het
Gipc3	T	C	10: 81,173,805 (GRCm39)	D269G	probably damaging	Het
Gm4861	G	A	3: 137,256,417 (GRCm39)	T63M	probably damaging	Het
Hmga1b	C	A	11: 120,653,833 (GRCm39)	A40E	probably damaging	Het
Hydin	T	A	8: 111,306,264 (GRCm39)	M3889K	probably benign	Het
Inhca	T	A	9: 103,140,332 (GRCm39)	K462N	probably benign	Het
Klk14	T	A	7: 43,344,367 (GRCm39)	M226K	probably benign	Het
Liph	T	G	16: 21,777,562 (GRCm39)	M413L	probably benign	Het
Lrrc37a	T	C	11: 103,348,787 (GRCm39)	D2636G	unknown	Het
Lrrk1	G	A	7: 65,912,202 (GRCm39)	T1786M	probably benign	Het
Map1a	A	G	2: 121,135,057 (GRCm39)	S1958G	possibly damaging	Het
Msto1	A	G	3: 88,817,481 (GRCm39)	F484S	probably benign	Het
Muc2	C	T	7: 141,308,173 (GRCm39)	H890Y		Het
Nectin3	T	C	16: 46,279,184 (GRCm39)	I265V	probably benign	Het
Nfat5	T	A	8: 108,082,134 (GRCm39)		probably null	Het
Nsmaf	T	C	4: 6,398,647 (GRCm39)	D819G	probably benign	Het
Or8b8	A	T	9: 37,808,633 (GRCm39)		probably benign	Het
Pcdhb1	A	T	18: 37,400,044 (GRCm39)	D665V	probably damaging	Het
Pkd1l1	T	C	11: 8,895,262 (GRCm39)	D616G		Het
Plppr2	A	T	9: 21,858,258 (GRCm39)	H286L	probably damaging	Het
Polrmt	T	C	10: 79,572,085 (GRCm39)	T1203A	probably damaging	Het
Ppm1d	T	A	11: 85,217,777 (GRCm39)	V180E	probably damaging	Het
Ppp1r18	T	A	17: 36,184,718 (GRCm39)	I551N	probably benign	Het
Psg28	C	T	7: 18,160,401 (GRCm39)	C265Y	possibly damaging	Het
Psmc1	A	G	12: 100,081,824 (GRCm39)	D142G	probably benign	Het
Rabgap1l	G	T	1: 160,528,424 (GRCm39)	A394E	probably damaging	Het
Rbm48	G	A	5: 3,640,470 (GRCm39)	P303L	probably benign	Het
Rnf167	T	C	11: 70,540,821 (GRCm39)	V185A	probably benign	Het
Ros1	T	A	10: 51,999,443 (GRCm39)	Q1169L	probably benign	Het
Rrp1b	A	G	17: 32,277,541 (GRCm39)	D607G	probably damaging	Het
Scamp1	A	G	13: 94,366,294 (GRCm39)	Y134H	probably damaging	Het
Scfd1	G	A	12: 51,492,490 (GRCm39)	E600K	probably damaging	Het
Scn3b	A	G	9: 40,193,840 (GRCm39)	E189G	possibly damaging	Het
Scn4b	G	T	9: 45,059,007 (GRCm39)	V93L	probably benign	Het
Serpina3i	A	T	12: 104,231,407 (GRCm39)	T15S	possibly damaging	Het
Slc2a13	A	T	15: 91,296,356 (GRCm39)	C319*	probably null	Het
Tdrd1	A	G	19: 56,854,437 (GRCm39)		probably null	Het
Tep1	T	A	14: 51,067,710 (GRCm39)	I2169F	probably benign	Het
Tm4sf19	A	G	16: 32,226,458 (GRCm39)	D124G	possibly damaging	Het
Trim2	T	C	3: 84,098,026 (GRCm39)	Y434C	probably damaging	Het
Usp34	T	A	11: 23,327,622 (GRCm39)	S1056T		Het
Vmn1r230	T	A	17: 21,067,312 (GRCm39)	M167K	probably benign	Het
Vmn2r14	T	A	5: 109,363,862 (GRCm39)	M685L	probably benign	Het
Zfhx4	T	A	3: 5,478,047 (GRCm39)	V3554D	probably damaging	Het
Zfp1010	C	T	2: 176,957,015 (GRCm39)	G161D	probably damaging	Het
Zfp458	A	G	13: 67,405,234 (GRCm39)	S402P	probably damaging	Het
Zfp462	C	A	4: 55,011,907 (GRCm39)	A1291E	probably damaging	Het
Zmat5	G	A	11: 4,672,379 (GRCm39)		probably benign	Het
Znfx1	C	A	2: 166,897,857 (GRCm39)	E356*	probably null	Het
Zswim5	A	G	4: 116,808,291 (GRCm39)	T292A	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
R7318:Nectin4	UTSW	1	171,208,031 (GRCm39)	missense	probably benign	0.16
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
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'- AAAATGGACTCTGAGCTTGGG -3'
(R):5'- ACAAGCCAGTAACATTTGCTG -3'

Sequencing Primer
(F):5'- ATCAGTGTGGCCAGGAGCTG -3'
(R):5'- GCCAGTAACATTTGCTGACTATGC -3'

Posted On

2020-09-15