Mutagenetix > Incidental Mutation

Incidental Mutation 'R4078:Cdh4'

316666

Institutional Source

Beutler Lab

Gene Symbol

Cdh4

Ensembl Gene

ENSMUSG00000000305

Gene Name

cadherin 4

Synonyms

R-Cadh, R-cadherin, Rcad

MMRRC Submission

041623-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4078 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179084228-179541166 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 179530966 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 616 (E616G)

Ref Sequence

ENSEMBL: ENSMUSP00000000314 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000314] [ENSMUST00000098996]

AlphaFold

P39038

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000314
AA Change: E616G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: E616G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000098996

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129659

Meta Mutation Damage Score

0.2195

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

96% (70/73)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,215,359 (GRCm39)	L367*	probably null	Het
Agfg1	T	A	1: 82,860,008 (GRCm39)	S312T	possibly damaging	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Ambp	T	A	4: 63,068,680 (GRCm39)	K112N	probably damaging	Het
Arl5c	A	T	11: 97,884,327 (GRCm39)	I88N	probably damaging	Het
Asah1	A	G	8: 41,807,119 (GRCm39)	S102P	probably damaging	Het
Atp10b	T	C	11: 43,044,110 (GRCm39)	V112A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cabs1	G	A	5: 88,128,161 (GRCm39)	E271K	probably damaging	Het
Car8	T	C	4: 8,169,731 (GRCm39)	K259R	possibly damaging	Het
Ccdc18	C	T	5: 108,306,394 (GRCm39)	Q270*	probably null	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cfap74	A	G	4: 155,540,128 (GRCm39)	D975G	probably damaging	Het
Col27a1	G	T	4: 63,142,669 (GRCm39)	R119L	probably damaging	Het
Col7a1	A	G	9: 108,790,059 (GRCm39)	N918S	unknown	Het
Colec11	T	C	12: 28,645,246 (GRCm39)	N142D	possibly damaging	Het
Cox7a2	G	A	9: 79,665,852 (GRCm39)	Q10*	probably null	Het
Cyp2b23	C	A	7: 26,372,517 (GRCm39)	G366V	probably damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Emsy	G	A	7: 98,239,932 (GRCm39)	P1108S	probably damaging	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
Fam151a	G	A	4: 106,604,954 (GRCm39)	G439S	probably benign	Het
Fat1	C	T	8: 45,442,159 (GRCm39)	P1154S	probably damaging	Het
Fat4	G	A	3: 39,034,169 (GRCm39)	S2607N	probably damaging	Het
Fzd7	T	A	1: 59,522,948 (GRCm39)	M277K	possibly damaging	Het
Fzd9	A	G	5: 135,278,490 (GRCm39)	V465A	probably benign	Het
Gm38706	G	T	6: 130,460,700 (GRCm39)		noncoding transcript	Het
Gm9758	T	A	5: 14,961,536 (GRCm39)		probably null	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Heatr9	C	A	11: 83,403,254 (GRCm39)	K428N	probably benign	Het
Hgs	T	A	11: 120,373,874 (GRCm39)	S723T	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Kcnn3	A	G	3: 89,568,495 (GRCm39)	K591R	possibly damaging	Het
Khdrbs2	T	C	1: 32,558,895 (GRCm39)		probably benign	Het
Lpp	G	A	16: 24,500,611 (GRCm39)	R141H	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mipep	T	A	14: 61,083,926 (GRCm39)	Y606N	probably damaging	Het
Mroh5	C	A	15: 73,657,889 (GRCm39)	C547F	possibly damaging	Het
Nek3	A	T	8: 22,622,153 (GRCm39)	W363R	probably damaging	Het
Nphs1	T	A	7: 30,166,945 (GRCm39)	Y717*	probably null	Het
Obscn	A	G	11: 58,929,189 (GRCm39)	V6145A	probably benign	Het
Optc	T	C	1: 133,826,087 (GRCm39)	H270R	probably damaging	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or2l5	T	A	16: 19,333,982 (GRCm39)	M135L	possibly damaging	Het
Or5p80	T	A	7: 108,230,114 (GRCm39)	M305K	probably benign	Het
Or9r7	G	A	10: 129,962,587 (GRCm39)	T113I	probably damaging	Het
Pik3c2g	A	G	6: 139,612,608 (GRCm39)		probably benign	Het
Pms1	A	T	1: 53,306,948 (GRCm39)		probably null	Het
Pramel51	T	A	12: 88,142,683 (GRCm39)	I312F	probably benign	Het
Prkg1	T	C	19: 31,562,978 (GRCm39)	Y156C	probably damaging	Het
Prol1	A	G	5: 88,476,075 (GRCm39)	N155S	unknown	Het
Rapgefl1	A	G	11: 98,740,803 (GRCm39)	T552A	probably benign	Het
Slc22a28	T	A	19: 8,078,777 (GRCm39)	H304L	probably benign	Het
Stox1	C	T	10: 62,501,810 (GRCm39)	C250Y	probably benign	Het
Sult2a3	A	G	7: 13,855,662 (GRCm39)	W65R	possibly damaging	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Syne2	C	A	12: 76,082,398 (GRCm39)	T4857K	probably damaging	Het
Tcp1	T	C	17: 13,136,970 (GRCm39)	L64S	probably benign	Het
Thap11	G	T	8: 106,582,548 (GRCm39)	E186*	probably null	Het
Tmem67	A	G	4: 12,040,633 (GRCm39)		probably null	Het
Trappc10	T	C	10: 78,046,216 (GRCm39)	Y458C	probably damaging	Het
Ufd1	A	G	16: 18,644,528 (GRCm39)	Y197C	possibly damaging	Het
Ung	G	T	5: 114,268,684 (GRCm39)		probably null	Het
Usp49	A	G	17: 47,985,674 (GRCm39)	T245A	probably damaging	Het
Washc1	A	T	17: 66,424,156 (GRCm39)	E289D	probably benign	Het
Zc3h7a	A	T	16: 10,969,011 (GRCm39)	V450E	probably benign	Het
Zcchc17	T	G	4: 130,223,418 (GRCm39)	I123L	possibly damaging	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	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
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
R5773:Cdh4	UTSW	2	179,527,789 (GRCm39)	missense	probably damaging	1.00
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'- TCAACATGTGGCTGTGTGTC -3'
(R):5'- CATTGGTGACAGATCCTGGG -3'

Sequencing Primer
(F):5'- GTGTGTCTCGCTTAGGACTTCAC -3'
(R):5'- GGACCCTAAATACTTAGCTCCTGG -3'

Posted On

2015-05-15