Mutagenetix > Incidental Mutation

Incidental Mutation 'R5773:Cdh4'

445487

Institutional Source

Beutler Lab

Gene Symbol

Cdh4

Ensembl Gene

ENSMUSG00000000305

Gene Name

cadherin 4

Synonyms

R-Cadh, R-cadherin, Rcad

MMRRC Submission

043372-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

179084228-179541166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 179527789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 503 (Y503C)

Ref Sequence

ENSEMBL: ENSMUSP00000000314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000314]

AlphaFold

P39038

Predicted Effect

probably damaging
Transcript: ENSMUST00000000314
AA Change: Y503C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: Y503C

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Cadherin_pro	30	121	1.18e-30	SMART
CA	187	272	2.31e-15	SMART
CA	296	387	4.33e-29	SMART
CA	410	503	2.21e-12	SMART
CA	526	610	7.16e-21	SMART
CA	630	715	3.78e-2	SMART
transmembrane domain	730	752	N/A	INTRINSIC
Pfam:Cadherin_C	760	909	2.5e-52	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. The encoded protein is involved in retinal angiogenesis during development where it plays a crucial role in the endothelial-astrocyte interactions. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in dilation of the proximal renal tubules and extensive vacuolization of tubule epithelium. Uretic bud epithelium appear disorganized and exhibit increased apoptosis at E15.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,416,614 (GRCm39)		probably null	Het
Akna	C	T	4: 63,313,307 (GRCm39)	S272N	probably benign	Het
Ap2m1	T	C	16: 20,362,140 (GRCm39)	V416A	probably damaging	Het
Atp7b	A	G	8: 22,517,879 (GRCm39)	F320L	probably benign	Het
Brd1	T	C	15: 88,573,752 (GRCm39)	K1116E	probably benign	Het
Ccdc186	T	C	19: 56,801,919 (GRCm39)	D66G	probably benign	Het
Cfb	C	A	17: 35,076,248 (GRCm39)	E166*	probably null	Het
Cmtm1	A	T	8: 105,031,808 (GRCm39)	F90I	probably damaging	Het
Col1a1	A	T	11: 94,830,255 (GRCm39)	K160N	probably benign	Het
Cradd	T	C	10: 95,011,823 (GRCm39)	I106V	probably benign	Het
Defa17	A	G	8: 22,146,574 (GRCm39)	R67G	probably damaging	Het
Dgkh	T	C	14: 78,832,895 (GRCm39)	N765S	probably damaging	Het
Dock5	A	G	14: 68,033,507 (GRCm39)	V954A	possibly damaging	Het
Eif2d	A	G	1: 131,086,040 (GRCm39)		probably null	Het
Epg5	T	A	18: 78,004,040 (GRCm39)	F683I	probably damaging	Het
Fhad1	T	G	4: 141,656,881 (GRCm39)	K91T	probably damaging	Het
Fut11	A	T	14: 20,748,383 (GRCm39)	D476V	probably damaging	Het
Gldn	T	C	9: 54,241,775 (GRCm39)		probably null	Het
Gm7247	C	T	14: 51,601,805 (GRCm39)	S26F	probably benign	Het
Gm8674	T	A	13: 50,055,912 (GRCm39)		noncoding transcript	Het
Gtpbp6	C	A	5: 110,254,757 (GRCm39)	E168D	possibly damaging	Het
Hinfp	T	A	9: 44,210,533 (GRCm39)	H163L	probably benign	Het
Igkv6-29	C	A	6: 70,115,584 (GRCm39)	G70V	possibly damaging	Het
Ing3	T	A	6: 21,971,834 (GRCm39)	C368S	probably damaging	Het
Itih1	A	G	14: 30,657,356 (GRCm39)	V489A	possibly damaging	Het
Itsn2	T	C	12: 4,757,089 (GRCm39)	L1393P	probably damaging	Het
Kcnj13	T	C	1: 87,314,389 (GRCm39)	T278A	probably damaging	Het
Kntc1	G	A	5: 123,932,220 (GRCm39)	R1338Q	probably damaging	Het
Lipi	T	A	16: 75,370,813 (GRCm39)	T135S	probably damaging	Het
Map7	A	G	10: 20,122,390 (GRCm39)	K152R	probably benign	Het
Mmp24	A	G	2: 155,641,829 (GRCm39)	Y219C	probably damaging	Het
Nup188	T	C	2: 30,212,208 (GRCm39)	V565A	possibly damaging	Het
Nup210	T	C	6: 91,062,865 (GRCm39)	K265E	probably damaging	Het
Or10ak9	A	G	4: 118,726,718 (GRCm39)	T247A	probably damaging	Het
Pcdha6	A	T	18: 37,102,643 (GRCm39)	H612L	probably benign	Het
Pgpep1	G	A	8: 71,105,101 (GRCm39)	T53M	probably damaging	Het
Pld2	G	T	11: 70,446,758 (GRCm39)	S778I	probably damaging	Het
Ppef2	A	C	5: 92,398,420 (GRCm39)	Y33D	probably damaging	Het
Ppfibp2	A	T	7: 107,285,079 (GRCm39)	T129S	possibly damaging	Het
Prickle1	G	T	15: 93,406,478 (GRCm39)	H182N	probably damaging	Het
R3hdm2	T	A	10: 127,280,172 (GRCm39)		probably benign	Het
Rbm12b1	A	T	4: 12,145,765 (GRCm39)	E579V	probably damaging	Het
Rsf1	GGC	GGCGGCGGCTGC	7: 97,229,140 (GRCm39)		probably benign	Het
Slc1a6	T	G	10: 78,629,111 (GRCm39)		probably null	Het
Slc27a6	G	T	18: 58,715,245 (GRCm39)	A283S	probably damaging	Het
Spats2l	T	A	1: 57,918,708 (GRCm39)	N27K	possibly damaging	Het
Srgap1	T	C	10: 121,732,614 (GRCm39)	M155V	probably benign	Het
Stxbp5l	C	A	16: 37,028,459 (GRCm39)	A535S	probably damaging	Het
Svep1	C	A	4: 58,099,985 (GRCm39)	C1353F	possibly damaging	Het
Taar4	T	A	10: 23,837,056 (GRCm39)	I222N	probably damaging	Het
Tlr6	A	G	5: 65,111,846 (GRCm39)	F354L	probably benign	Het
Trp53bp1	A	G	2: 121,074,395 (GRCm39)	S452P	probably damaging	Het
Ttll5	GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC	G	12: 85,980,329 (GRCm39)		probably null	Het
Usp42	A	T	5: 143,699,467 (GRCm39)	M1264K	probably benign	Het
Zfp865	A	T	7: 5,037,693 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,334,511 (GRCm39)	L169Q	probably damaging	Het
Zmym4	A	T	4: 126,799,163 (GRCm39)	N383K	possibly damaging	Het

Other mutations in Cdh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Cdh4	APN	2	179,515,937 (GRCm39)	missense	probably damaging	1.00
IGL01411:Cdh4	APN	2	179,422,196 (GRCm39)	missense	probably damaging	0.96
IGL01752:Cdh4	APN	2	179,532,677 (GRCm39)	missense	probably damaging	1.00
IGL02814:Cdh4	APN	2	179,422,267 (GRCm39)	missense	probably benign	0.01
R0082:Cdh4	UTSW	2	179,535,981 (GRCm39)	missense	possibly damaging	0.75
R0357:Cdh4	UTSW	2	179,489,133 (GRCm39)	missense	probably damaging	1.00
R1521:Cdh4	UTSW	2	179,439,351 (GRCm39)	missense	probably damaging	1.00
R1591:Cdh4	UTSW	2	179,528,657 (GRCm39)	critical splice donor site	probably null
R1622:Cdh4	UTSW	2	179,530,885 (GRCm39)	missense	possibly damaging	0.56
R1762:Cdh4	UTSW	2	179,439,273 (GRCm39)	missense	probably benign	0.01
R1794:Cdh4	UTSW	2	179,528,635 (GRCm39)	missense	probably damaging	1.00
R2275:Cdh4	UTSW	2	179,532,640 (GRCm39)	missense	probably damaging	1.00
R2277:Cdh4	UTSW	2	179,439,317 (GRCm39)	missense	possibly damaging	0.88
R3686:Cdh4	UTSW	2	179,422,160 (GRCm39)	missense	probably benign	0.09
R3861:Cdh4	UTSW	2	179,515,890 (GRCm39)	missense	probably damaging	1.00
R4078:Cdh4	UTSW	2	179,530,966 (GRCm39)	missense	possibly damaging	0.93
R4495:Cdh4	UTSW	2	179,422,182 (GRCm39)	missense	probably damaging	0.98
R4715:Cdh4	UTSW	2	179,422,260 (GRCm39)	missense	probably benign	0.03
R4893:Cdh4	UTSW	2	179,489,212 (GRCm39)	intron	probably benign
R5029:Cdh4	UTSW	2	179,523,742 (GRCm39)	missense	possibly damaging	0.93
R5363:Cdh4	UTSW	2	179,528,556 (GRCm39)	missense	probably benign
R5542:Cdh4	UTSW	2	179,502,019 (GRCm39)	missense	probably damaging	0.98
R5791:Cdh4	UTSW	2	179,537,560 (GRCm39)	missense	probably damaging	1.00
R6262:Cdh4	UTSW	2	179,439,419 (GRCm39)	missense	probably damaging	1.00
R6338:Cdh4	UTSW	2	179,532,605 (GRCm39)	missense	probably damaging	1.00
R6589:Cdh4	UTSW	2	179,523,789 (GRCm39)	critical splice donor site	probably null
R6607:Cdh4	UTSW	2	179,515,889 (GRCm39)	missense	probably benign	0.00
R6653:Cdh4	UTSW	2	179,422,221 (GRCm39)	missense	probably benign	0.34
R6711:Cdh4	UTSW	2	179,532,724 (GRCm39)	missense	probably damaging	1.00
R6744:Cdh4	UTSW	2	179,489,180 (GRCm39)	missense	possibly damaging	0.68
R6824:Cdh4	UTSW	2	179,439,351 (GRCm39)	missense	probably damaging	1.00
R6901:Cdh4	UTSW	2	179,501,987 (GRCm39)	missense	probably benign	0.19
R6981:Cdh4	UTSW	2	179,439,297 (GRCm39)	missense	probably benign	0.28
R7285:Cdh4	UTSW	2	179,439,258 (GRCm39)	missense	probably benign	0.00
R7514:Cdh4	UTSW	2	179,532,636 (GRCm39)	missense	possibly damaging	0.91
R7541:Cdh4	UTSW	2	179,086,603 (GRCm39)	splice site	probably null
R7560:Cdh4	UTSW	2	179,532,695 (GRCm39)	missense	probably benign	0.25
R8146:Cdh4	UTSW	2	179,515,871 (GRCm39)	missense	possibly damaging	0.91
R8833:Cdh4	UTSW	2	179,535,828 (GRCm39)	missense	possibly damaging	0.61
R9075:Cdh4	UTSW	2	179,501,940 (GRCm39)	missense	probably damaging	0.97
R9203:Cdh4	UTSW	2	179,422,196 (GRCm39)	missense	probably damaging	0.96
Z1177:Cdh4	UTSW	2	179,422,119 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- AGGAAGCCCCAGTTAACCTG -3'
(R):5'- TGGACATAGTACCCCTGTCC -3'

Sequencing Primer
(F):5'- GTCCCTTCTTCCAGGCAGTG -3'
(R):5'- CTCTACTGGGCTTCCTGGTG -3'

Posted On

2016-11-21