Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:Cdh4'

360747

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh4

Ensembl Gene

ENSMUSG00000000305

Gene Name

cadherin 4

Synonyms

R-Cadh, Rcad, R-cadherin

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

179442431-179899373 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 179780474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 130 (E130D)

Ref Sequence

ENSEMBL: ENSMUSP00000104539 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000314] [ENSMUST00000108911]

AlphaFold

P39038

Predicted Effect

probably benign
Transcript: ENSMUST00000000314
AA Change: E130D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305
AA Change: E130D

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: ENSMUST00000108911
AA Change: E130D

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000104539
Gene: ENSMUSG00000000305
AA Change: E130D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124708

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136411

Coding Region Coverage

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	C	A	19: 7,420,422 (GRCm38)	N111K	possibly damaging	Het
Abca9	A	T	11: 110,154,467 (GRCm38)	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,303,649 (GRCm38)	T1233A	probably benign	Het
Blnk	C	T	19: 40,962,429 (GRCm38)	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,707 (GRCm38)	E1083G	probably damaging	Het
Capn8	C	A	1: 182,598,771 (GRCm38)	L224M	probably damaging	Het
Cgn	G	A	3: 94,774,240 (GRCm38)	T515M	probably benign	Het
Chrna10	C	T	7: 102,112,262 (GRCm38)	G374D	probably benign	Het
Chrnb1	T	A	11: 69,795,680 (GRCm38)	Y38F	probably damaging	Het
Cyld	A	G	8: 88,744,897 (GRCm38)	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,634,671 (GRCm38)	F443S	probably benign	Het
Dctn1	C	A	6: 83,189,914 (GRCm38)	A152E	probably damaging	Het
Eml4	T	A	17: 83,441,362 (GRCm38)	Y228*	probably null	Het
Fbln2	T	A	6: 91,265,857 (GRCm38)	C846*	probably null	Het
Fut2	C	T	7: 45,650,769 (GRCm38)	G193E	possibly damaging	Het
Gart	T	C	16: 91,623,457 (GRCm38)	S833G	possibly damaging	Het
Gda	T	C	19: 21,428,475 (GRCm38)		probably null	Het
Gjb5	C	T	4: 127,355,562 (GRCm38)	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,286,704 (GRCm38)	K193E	probably damaging	Het
Hist2h4	C	A	3: 96,263,287 (GRCm38)	K6N	probably benign	Het
Ints1	C	T	5: 139,772,391 (GRCm38)	E244K	possibly damaging	Het
Kat14	G	A	2: 144,402,463 (GRCm38)	S412N	probably benign	Het
Kcnn3	A	T	3: 89,521,175 (GRCm38)	H236L	possibly damaging	Het
Kif15	T	A	9: 123,003,640 (GRCm38)	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,678,892 (GRCm38)	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,071,033 (GRCm38)	S130P	probably damaging	Het
Ldha	T	A	7: 46,850,891 (GRCm38)	Y133*	probably null	Het
Lrp2	A	G	2: 69,506,736 (GRCm38)	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,567,352 (GRCm38)	V37D	probably damaging	Het
Mep1a	T	A	17: 43,477,221 (GRCm38)	H648L	probably benign	Het
Mmp25	C	T	17: 23,639,762 (GRCm38)	G272R	probably damaging	Het
Myh15	A	G	16: 49,145,438 (GRCm38)		probably benign	Het
Myl3	G	T	9: 110,767,991 (GRCm38)	E140*	probably null	Het
Nlrp4f	A	G	13: 65,185,042 (GRCm38)	S809P	probably damaging	Het
Nrde2	T	C	12: 100,144,135 (GRCm38)	I207M	probably null	Het
Olfr1373	C	T	11: 52,144,810 (GRCm38)	C240Y	probably damaging	Het
Olfr474	T	C	7: 107,954,770 (GRCm38)	I43T	probably benign	Het
Olfr541	T	C	7: 140,705,133 (GRCm38)	L294P	probably damaging	Het
Paics	T	G	5: 76,962,473 (GRCm38)	V245G	probably damaging	Het
Pank1	A	G	19: 34,840,855 (GRCm38)	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,767,100 (GRCm38)	C167G	probably damaging	Het
Picalm	C	A	7: 90,191,749 (GRCm38)	T542K	possibly damaging	Het
Piezo1	A	G	8: 122,498,215 (GRCm38)	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,250,194 (GRCm38)	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,902,582 (GRCm38)	T634S	probably benign	Het
Rab32	T	C	10: 10,546,427 (GRCm38)	T183A	probably benign	Het
Rad18	T	C	6: 112,644,622 (GRCm38)	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,885,776 (GRCm38)	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,726 (GRCm38)	E101G	probably benign	Het
Rsf1	T	C	7: 97,661,227 (GRCm38)	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,740,365 (GRCm38)	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387 (GRCm38)	C330Y	probably benign	Het
Spock1	A	T	13: 57,587,673 (GRCm38)	V101E	probably damaging	Het
Sympk	T	A	7: 19,053,273 (GRCm38)	W1029R	probably damaging	Het
Syne2	T	A	12: 75,945,376 (GRCm38)	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719 (GRCm38)	Y199N	probably damaging	Het
Trim10	T	A	17: 36,877,336 (GRCm38)	C481*	probably null	Het
Vmn2r102	A	G	17: 19,677,908 (GRCm38)	E395G	probably damaging	Het
Wfs1	A	C	5: 36,967,669 (GRCm38)	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,445,021 (GRCm38)	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,819,841 (GRCm38)	H721R	probably damaging	Het

Other mutations in Cdh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Cdh4	APN	2	179,874,144 (GRCm38)	missense	probably damaging	1.00
IGL01411:Cdh4	APN	2	179,780,403 (GRCm38)	missense	probably damaging	0.96
IGL01752:Cdh4	APN	2	179,890,884 (GRCm38)	missense	probably damaging	1.00
R0082:Cdh4	UTSW	2	179,894,188 (GRCm38)	missense	possibly damaging	0.75
R0357:Cdh4	UTSW	2	179,847,340 (GRCm38)	missense	probably damaging	1.00
R1521:Cdh4	UTSW	2	179,797,558 (GRCm38)	missense	probably damaging	1.00
R1591:Cdh4	UTSW	2	179,886,864 (GRCm38)	critical splice donor site	probably null
R1622:Cdh4	UTSW	2	179,889,092 (GRCm38)	missense	possibly damaging	0.56
R1762:Cdh4	UTSW	2	179,797,480 (GRCm38)	missense	probably benign	0.01
R1794:Cdh4	UTSW	2	179,886,842 (GRCm38)	missense	probably damaging	1.00
R2275:Cdh4	UTSW	2	179,890,847 (GRCm38)	missense	probably damaging	1.00
R2277:Cdh4	UTSW	2	179,797,524 (GRCm38)	missense	possibly damaging	0.88
R3686:Cdh4	UTSW	2	179,780,367 (GRCm38)	missense	probably benign	0.09
R3861:Cdh4	UTSW	2	179,874,097 (GRCm38)	missense	probably damaging	1.00
R4078:Cdh4	UTSW	2	179,889,173 (GRCm38)	missense	possibly damaging	0.93
R4495:Cdh4	UTSW	2	179,780,389 (GRCm38)	missense	probably damaging	0.98
R4715:Cdh4	UTSW	2	179,780,467 (GRCm38)	missense	probably benign	0.03
R4893:Cdh4	UTSW	2	179,847,419 (GRCm38)	intron	probably benign
R5029:Cdh4	UTSW	2	179,881,949 (GRCm38)	missense	possibly damaging	0.93
R5363:Cdh4	UTSW	2	179,886,763 (GRCm38)	missense	probably benign
R5542:Cdh4	UTSW	2	179,860,226 (GRCm38)	missense	probably damaging	0.98
R5773:Cdh4	UTSW	2	179,885,996 (GRCm38)	missense	probably damaging	1.00
R5791:Cdh4	UTSW	2	179,895,767 (GRCm38)	missense	probably damaging	1.00
R6262:Cdh4	UTSW	2	179,797,626 (GRCm38)	missense	probably damaging	1.00
R6338:Cdh4	UTSW	2	179,890,812 (GRCm38)	missense	probably damaging	1.00
R6589:Cdh4	UTSW	2	179,881,996 (GRCm38)	critical splice donor site	probably null
R6607:Cdh4	UTSW	2	179,874,096 (GRCm38)	missense	probably benign	0.00
R6653:Cdh4	UTSW	2	179,780,428 (GRCm38)	missense	probably benign	0.34
R6711:Cdh4	UTSW	2	179,890,931 (GRCm38)	missense	probably damaging	1.00
R6744:Cdh4	UTSW	2	179,847,387 (GRCm38)	missense	possibly damaging	0.68
R6824:Cdh4	UTSW	2	179,797,558 (GRCm38)	missense	probably damaging	1.00
R6901:Cdh4	UTSW	2	179,860,194 (GRCm38)	missense	probably benign	0.19
R6981:Cdh4	UTSW	2	179,797,504 (GRCm38)	missense	probably benign	0.28
R7285:Cdh4	UTSW	2	179,797,465 (GRCm38)	missense	probably benign	0.00
R7514:Cdh4	UTSW	2	179,890,843 (GRCm38)	missense	possibly damaging	0.91
R7541:Cdh4	UTSW	2	179,444,810 (GRCm38)	splice site	probably null
R7560:Cdh4	UTSW	2	179,890,902 (GRCm38)	missense	probably benign	0.25
R8146:Cdh4	UTSW	2	179,874,078 (GRCm38)	missense	possibly damaging	0.91
R8833:Cdh4	UTSW	2	179,894,035 (GRCm38)	missense	possibly damaging	0.61
R9075:Cdh4	UTSW	2	179,860,147 (GRCm38)	missense	probably damaging	0.97
R9203:Cdh4	UTSW	2	179,780,403 (GRCm38)	missense	probably damaging	0.96
Z1177:Cdh4	UTSW	2	179,780,326 (GRCm38)	missense	probably benign	0.45

Posted On

2015-12-18