Mutagenetix > Incidental Mutation

Incidental Mutation 'R1591:Cdh4'

175464

Institutional Source

Beutler Lab

Gene Symbol

Cdh4

Ensembl Gene

ENSMUSG00000000305

Gene Name

cadherin 4

Synonyms

R-Cadh, Rcad, R-cadherin

MMRRC Submission

039628-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1591 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

179442431-179899373 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 179886864 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000000314 (fasta)

Gene Model

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

AlphaFold

P39038

Predicted Effect

probably null
Transcript: ENSMUST00000000314

SMART Domains

Protein: ENSMUSP00000000314
Gene: ENSMUSG00000000305

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

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

100% (80/80)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abraxas1	G	T	5: 100,809,639	Q201K	probably benign	Het
Acacb	A	T	5: 114,203,423	I829F	possibly damaging	Het
Acvr1b	G	T	15: 101,194,024	V62L	probably benign	Het
Adam6b	A	T	12: 113,489,832	I90F	probably benign	Het
Adgrf1	T	C	17: 43,310,981	L703P	probably damaging	Het
Arf3	T	C	15: 98,742,788		probably benign	Het
Asns	T	C	6: 7,678,007	D357G	probably damaging	Het
Atr	T	C	9: 95,945,385	M2461T	probably damaging	Het
B3galt4	G	A	17: 33,950,839	R142C	probably damaging	Het
Bod1l	T	C	5: 41,819,220	I1584V	probably benign	Het
Bub3	T	C	7: 131,561,608		probably null	Het
Camkk2	A	G	5: 122,757,558		probably null	Het
Cand1	G	T	10: 119,211,869	T572K	possibly damaging	Het
Caprin2	A	T	6: 148,873,108	S235R	possibly damaging	Het
Cdh24	T	C	14: 54,636,342	T452A	probably benign	Het
Cfap61	A	G	2: 146,145,458	R1060G	probably benign	Het
Chd9	A	G	8: 90,983,538	D314G	probably damaging	Het
Csmd1	T	A	8: 15,900,710	I3500F	probably damaging	Het
Dnah1	G	T	14: 31,272,332	Q2858K	probably benign	Het
Dnah6	C	T	6: 73,076,600	E2884K	probably benign	Het
Ecm1	G	A	3: 95,735,963	R342C	probably damaging	Het
Exosc10	T	A	4: 148,568,383	I485N	probably benign	Het
Fap	T	C	2: 62,553,857	K2E	probably damaging	Het
Fgfr1	G	A	8: 25,572,720	G671D	probably damaging	Het
Fzr1	C	T	10: 81,370,367	R162Q	possibly damaging	Het
Gm17727	T	C	9: 35,776,656	D96G	probably damaging	Het
Grap2	A	T	15: 80,648,448	Y272F	probably damaging	Het
Il11ra1	T	A	4: 41,766,200	W246R	probably damaging	Het
Kcna3	A	T	3: 107,037,029	I203F	probably damaging	Het
Kcng1	T	C	2: 168,268,710	E178G	possibly damaging	Het
Kif19a	A	C	11: 114,789,231	H798P	probably benign	Het
Kif21b	T	C	1: 136,149,317	L359P	probably damaging	Het
Krt6a	A	T	15: 101,692,357		probably null	Het
Lman1l	C	T	9: 57,615,802	V125I	probably benign	Het
Lrp1	C	T	10: 127,605,606	S216N	probably benign	Het
Lrp3	A	G	7: 35,202,365	V676A	probably benign	Het
Lrrc63	T	A	14: 75,125,892	K266N	possibly damaging	Het
Mccc1	C	T	3: 35,989,857	V246M	probably damaging	Het
Mdn1	T	C	4: 32,700,092	V1395A	possibly damaging	Het
Mmrn1	A	T	6: 60,944,771	R71*	probably null	Het
Mrps2	C	T	2: 28,469,488	A119V	probably benign	Het
Ogdh	T	C	11: 6,349,384	F750S	probably damaging	Het
Olfr147	A	G	9: 38,402,936	T18A	probably damaging	Het
Olfr356	C	A	2: 36,937,978	N286K	probably damaging	Het
Olfr484	T	A	7: 108,124,364	I300F	possibly damaging	Het
Olfr612	T	G	7: 103,539,067	T56P	probably benign	Het
Olfr901	A	T	9: 38,430,411	N43I	probably damaging	Het
Osbpl11	A	C	16: 33,209,983	I194L	probably benign	Het
Pacsin2	T	C	15: 83,385,051	E14G	probably damaging	Het
Pcdh7	A	G	5: 57,720,422	T440A	probably damaging	Het
Pcdhb17	T	C	18: 37,485,825	S223P	probably damaging	Het
Pik3c2g	G	A	6: 139,748,178	R109K	probably benign	Het
Ppp2ca	T	C	11: 52,099,089	I14T	possibly damaging	Het
Rdh12	A	T	12: 79,211,504	T102S	probably damaging	Het
Rsf1	T	A	7: 97,639,313	C132*	probably null	Het
Rufy1	G	A	11: 50,394,928	L621F	probably damaging	Het
Ruvbl2	C	T	7: 45,424,711	R253H	possibly damaging	Het
Sdf2	A	G	11: 78,254,993	E172G	probably damaging	Het
Skint5	C	T	4: 113,999,454		probably null	Het
Slc25a27	A	G	17: 43,653,424	I185T	probably benign	Het
Slc41a3	A	C	6: 90,633,695	K180Q	probably benign	Het
Slc7a14	A	C	3: 31,237,449	F227V	probably damaging	Het
Smg1	T	C	7: 118,156,919		probably benign	Het
St6galnac1	A	T	11: 116,765,863	D483E	probably damaging	Het
Tes	A	G	6: 17,097,442	K183R	probably damaging	Het
Tgfbr1	G	T	4: 47,403,471	D290Y	probably damaging	Het
Tifab	T	A	13: 56,176,351	Y93F	probably benign	Het
Tmem131l	A	G	3: 83,940,889		probably null	Het
Tnfrsf21	T	A	17: 43,085,374	S516R	probably benign	Het
Ttn	T	C	2: 76,776,045	Y18140C	probably damaging	Het
Unc13b	T	A	4: 43,244,747	S3692T	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Zfp113	T	C	5: 138,151,197		probably benign	Het
Zfp26	T	C	9: 20,437,625	T548A	probably benign	Het
Zfp870	C	T	17: 32,884,016	G114D	probably damaging	Het

Other mutations in Cdh4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Cdh4	APN	2	179874144	missense	probably damaging	1.00
IGL01411:Cdh4	APN	2	179780403	missense	probably damaging	0.96
IGL01752:Cdh4	APN	2	179890884	missense	probably damaging	1.00
IGL02814:Cdh4	APN	2	179780474	missense	probably benign	0.01
R0082:Cdh4	UTSW	2	179894188	missense	possibly damaging	0.75
R0357:Cdh4	UTSW	2	179847340	missense	probably damaging	1.00
R1521:Cdh4	UTSW	2	179797558	missense	probably damaging	1.00
R1622:Cdh4	UTSW	2	179889092	missense	possibly damaging	0.56
R1762:Cdh4	UTSW	2	179797480	missense	probably benign	0.01
R1794:Cdh4	UTSW	2	179886842	missense	probably damaging	1.00
R2275:Cdh4	UTSW	2	179890847	missense	probably damaging	1.00
R2277:Cdh4	UTSW	2	179797524	missense	possibly damaging	0.88
R3686:Cdh4	UTSW	2	179780367	missense	probably benign	0.09
R3861:Cdh4	UTSW	2	179874097	missense	probably damaging	1.00
R4078:Cdh4	UTSW	2	179889173	missense	possibly damaging	0.93
R4495:Cdh4	UTSW	2	179780389	missense	probably damaging	0.98
R4715:Cdh4	UTSW	2	179780467	missense	probably benign	0.03
R4893:Cdh4	UTSW	2	179847419	intron	probably benign
R5029:Cdh4	UTSW	2	179881949	missense	possibly damaging	0.93
R5363:Cdh4	UTSW	2	179886763	missense	probably benign
R5542:Cdh4	UTSW	2	179860226	missense	probably damaging	0.98
R5773:Cdh4	UTSW	2	179885996	missense	probably damaging	1.00
R5791:Cdh4	UTSW	2	179895767	missense	probably damaging	1.00
R6262:Cdh4	UTSW	2	179797626	missense	probably damaging	1.00
R6338:Cdh4	UTSW	2	179890812	missense	probably damaging	1.00
R6589:Cdh4	UTSW	2	179881996	critical splice donor site	probably null
R6607:Cdh4	UTSW	2	179874096	missense	probably benign	0.00
R6653:Cdh4	UTSW	2	179780428	missense	probably benign	0.34
R6711:Cdh4	UTSW	2	179890931	missense	probably damaging	1.00
R6744:Cdh4	UTSW	2	179847387	missense	possibly damaging	0.68
R6824:Cdh4	UTSW	2	179797558	missense	probably damaging	1.00
R6901:Cdh4	UTSW	2	179860194	missense	probably benign	0.19
R6981:Cdh4	UTSW	2	179797504	missense	probably benign	0.28
R7285:Cdh4	UTSW	2	179797465	missense	probably benign	0.00
R7514:Cdh4	UTSW	2	179890843	missense	possibly damaging	0.91
R7541:Cdh4	UTSW	2	179444810	splice site	probably null
R7560:Cdh4	UTSW	2	179890902	missense	probably benign	0.25
R8146:Cdh4	UTSW	2	179874078	missense	possibly damaging	0.91
R8833:Cdh4	UTSW	2	179894035	missense	possibly damaging	0.61
R9075:Cdh4	UTSW	2	179860147	missense	probably damaging	0.97
R9203:Cdh4	UTSW	2	179780403	missense	probably damaging	0.96
Z1177:Cdh4	UTSW	2	179780326	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- AGGTACTCCAAACTGTCTGATCCCG -3'
(R):5'- GCTCAGAATCTCCTTTACACCCGAC -3'

Sequencing Primer
(F):5'- GCCAACTGGCTGCACATC -3'
(R):5'- CTAGGATAGACATGGGCCTTC -3'

Posted On

2014-04-24