Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Cdh1'

235431

Institutional Source

Beutler Lab

Gene Symbol

Cdh1

Ensembl Gene

ENSMUSG00000000303

Gene Name

cadherin 1

Synonyms

Ecad, UM, uvomorulin, E-cad, L-CAM, E-cadherin

MMRRC Submission

040168-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106603351-106670246 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106664321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 690 (C690R)

Ref Sequence

ENSEMBL: ENSMUSP00000132112 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000312] [ENSMUST00000167688]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000000312
AA Change: C690R

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

SMART Domains

Protein: ENSMUSP00000000312
Gene: ENSMUSG00000000303
AA Change: C690R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Cadherin_pro	29	118	3.42e-36	SMART
low complexity region	123	131	N/A	INTRINSIC
CA	179	262	2.27e-14	SMART
CA	286	375	3.18e-27	SMART
CA	398	487	2e-10	SMART
CA	510	595	1.49e-18	SMART
Pfam:Cadherin	600	688	5.3e-11	PFAM
transmembrane domain	711	733	N/A	INTRINSIC
Pfam:Cadherin_C	734	881	1.3e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000167688
AA Change: C690R

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

SMART Domains

Protein: ENSMUSP00000132112
Gene: ENSMUSG00000000303
AA Change: C690R

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Cadherin_pro	29	118	3.42e-36	SMART
low complexity region	123	131	N/A	INTRINSIC
CA	179	262	2.27e-14	SMART
CA	286	375	3.18e-27	SMART
CA	398	487	2e-10	SMART
CA	510	595	1.49e-18	SMART
Pfam:Cadherin	600	688	7.1e-10	PFAM
transmembrane domain	711	733	N/A	INTRINSIC
Pfam:Cadherin_C	738	880	3.9e-50	PFAM

Meta Mutation Damage Score

0.9677

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

MGI Phenotype

FUNCTION: This gene encodes E-cadherin, a calcium-dependent cell adhesion molecule that functions in the establishment and maintenance of epithelial cell morphology during embryongenesis and adulthood. The encoded preproprotein undergoes proteolytic processing to generate a mature protein. Targeted mutations disrupting binding of calcium to the encoded protein in mice cause death in utero due to failed blastocyst and trophectoderm formation. This gene is located adjacent to a related cadherin gene on chromosome 8. [provided by RefSeq, Oct 2015]
PHENOTYPE: In mutant homozygotes, adhesive cells of the morula dissociate shortly after initial compaction, probably due to depletion of maternal protein. Mutant embryos fail to form a trophectodermal epithelium or blastocyst cavity, and die near implantation time. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,112,399	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,419,338	L403R	probably damaging	Het
AF067061	A	T	13: 120,264,097	Q99L	probably damaging	Het
Alox12	A	T	11: 70,242,572		probably null	Het
Ankib1	A	T	5: 3,713,210	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,721,839	Y1268D	probably damaging	Het
Bik	A	G	15: 83,541,423	M42V	probably benign	Het
Bola1	A	T	3: 96,197,201	S26T	probably benign	Het
Bub1	T	C	2: 127,801,281	I1048V	probably benign	Het
Cad	A	G	5: 31,062,220	N621S	probably damaging	Het
Camkv	C	A	9: 107,945,600	N69K	possibly damaging	Het
Ccdc110	T	C	8: 45,942,839	M589T	probably benign	Het
Ccdc154	T	A	17: 25,170,890	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,977,654	L252P	probably damaging	Het
Cfap157	T	G	2: 32,778,163		probably null	Het
Cux2	A	G	5: 121,887,477	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 107,068,683	P21S	probably damaging	Het
Cyp51	T	G	5: 4,086,594	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,097,992		probably benign	Het
Ephb4	A	G	5: 137,354,426	I90M	probably benign	Het
Fam13c	A	G	10: 70,542,693	N269S	probably damaging	Het
Fam83c	T	A	2: 155,831,524	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,303,716	F1166L	probably benign	Het
Fem1a	A	G	17: 56,257,686	N260D	probably benign	Het
Fnbp4	T	A	2: 90,767,399		probably null	Het
Fut9	T	A	4: 25,619,733	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734	*360L	probably null	Het
Gm11639	G	A	11: 104,751,862	V1104I	possibly damaging	Het
Gm3727	T	A	14: 7,264,625	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,428,291	V75M	probably damaging	Het
Haspin	A	C	11: 73,136,630	N544K	probably damaging	Het
Havcr1	A	G	11: 46,778,552	N286S	probably benign	Het
Lrp6	A	C	6: 134,459,283	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,979,577	H294P	possibly damaging	Het
Mon2	A	C	10: 123,042,364		probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mrgprb1	T	C	7: 48,447,322	I281V	probably benign	Het
Muc4	A	G	16: 32,750,476	E118G	probably damaging	Het
Nefh	T	C	11: 4,943,872	D394G	probably damaging	Het
Neurl4	A	G	11: 69,903,221	T168A	probably benign	Het
Olfr347	T	A	2: 36,734,701	C127S	probably damaging	Het
Olfr642	T	C	7: 104,049,638	T239A	probably benign	Het
Olfr982	A	G	9: 40,074,915	N207D	possibly damaging	Het
Olfr987	A	T	2: 85,331,102	N265K	probably benign	Het
Oxsr1	A	C	9: 119,294,432	M92R	probably damaging	Het
Pde8a	T	C	7: 81,295,768		probably null	Het
Pex5l	T	A	3: 32,953,132		probably null	Het
Pik3r4	T	A	9: 105,672,785	M1025K	probably benign	Het
Plch1	C	T	3: 63,698,482	E1325K	probably benign	Het
Plin2	A	T	4: 86,668,432	V54E	probably damaging	Het
Pqlc3	G	A	12: 16,989,839	L192F	probably damaging	Het
Prss47	A	T	13: 65,045,073	I298N	probably damaging	Het
Prune2	A	G	19: 17,120,182	R1017G	probably benign	Het
Psg19	T	A	7: 18,796,986	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rrnad1	A	T	3: 87,927,053		probably null	Het
Serpinb1a	T	C	13: 32,850,414		probably benign	Het
Sh3pxd2a	A	T	19: 47,278,355	V265E	probably damaging	Het
Slc22a17	A	T	14: 54,908,825	Y337*	probably null	Het
Slc25a27	A	G	17: 43,657,772	V138A	probably benign	Het
Slc4a2	A	G	5: 24,431,316	Y220C	probably damaging	Het
Stab1	A	T	14: 31,168,435	S20T	probably benign	Het
Thsd1	G	T	8: 22,238,522		probably benign	Het
Tmem204	G	A	17: 25,080,592		probably benign	Het
Tom1l1	A	G	11: 90,649,895		probably benign	Het
Toporsl	T	A	4: 52,612,072	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,081,291	K852E	unknown	Het
Wdpcp	T	G	11: 21,691,884	L174R	probably damaging	Het
Zbbx	G	A	3: 75,112,107	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp600	A	T	4: 146,196,918	R719*	probably null	Het
Zfp697	C	A	3: 98,428,014	A365E	unknown	Het
Zfp957	A	C	14: 79,213,613	S249A	probably benign	Het

Other mutations in Cdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Cdh1	APN	8	106660884	missense	probably damaging	1.00
IGL01405:Cdh1	APN	8	106649001	missense	probably damaging	0.97
IGL01410:Cdh1	APN	8	106657853	missense	probably benign	0.19
IGL01901:Cdh1	APN	8	106657760	missense	probably damaging	0.99
IGL02197:Cdh1	APN	8	106653786	missense	probably benign	0.29
IGL02580:Cdh1	APN	8	106649018	missense	probably benign	0.01
IGL02690:Cdh1	APN	8	106657884	missense	probably damaging	1.00
IGL02732:Cdh1	APN	8	106666323	missense	probably damaging	1.00
IGL02927:Cdh1	APN	8	106668511	missense	probably damaging	1.00
R1777:Cdh1	UTSW	8	106656835	missense	probably damaging	1.00
R1826:Cdh1	UTSW	8	106666266	missense	probably benign	0.03
R1892:Cdh1	UTSW	8	106664250	missense	possibly damaging	0.72
R2045:Cdh1	UTSW	8	106666182	splice site	probably benign
R2100:Cdh1	UTSW	8	106659668	missense	possibly damaging	0.57
R2104:Cdh1	UTSW	8	106653759	splice site	probably benign
R2118:Cdh1	UTSW	8	106664210	missense	probably benign
R2121:Cdh1	UTSW	8	106664210	missense	probably benign
R2124:Cdh1	UTSW	8	106664210	missense	probably benign
R2125:Cdh1	UTSW	8	106656840	missense	probably damaging	0.99
R2163:Cdh1	UTSW	8	106649081	missense	probably benign	0.01
R2266:Cdh1	UTSW	8	106662003	missense	probably benign
R2761:Cdh1	UTSW	8	106653849	missense	possibly damaging	0.90
R4547:Cdh1	UTSW	8	106663903	missense	probably damaging	1.00
R5131:Cdh1	UTSW	8	106663798	missense	possibly damaging	0.95
R5767:Cdh1	UTSW	8	106668555	missense	probably damaging	0.97
R5931:Cdh1	UTSW	8	106666332	critical splice donor site	probably null
R6254:Cdh1	UTSW	8	106663798	missense	probably damaging	1.00
R6397:Cdh1	UTSW	8	106604290	missense	possibly damaging	0.81
R6888:Cdh1	UTSW	8	106658314	missense	probably benign	0.09
R6928:Cdh1	UTSW	8	106661010	missense	possibly damaging	0.93
R6995:Cdh1	UTSW	8	106660913	missense	probably benign	0.02
R7110:Cdh1	UTSW	8	106668544	missense	possibly damaging	0.87
R8069:Cdh1	UTSW	8	106657773	missense	probably benign	0.26
R8260:Cdh1	UTSW	8	106604347	missense	probably benign	0.01
R8387:Cdh1	UTSW	8	106663869	missense	probably benign	0.02
R8762:Cdh1	UTSW	8	106659704	missense	probably damaging	1.00
R8881:Cdh1	UTSW	8	106666272	missense	probably benign	0.00
R8888:Cdh1	UTSW	8	106604339	missense	probably damaging	1.00
R8928:Cdh1	UTSW	8	106666238	small deletion	probably benign
R8929:Cdh1	UTSW	8	106666238	small deletion	probably benign
R8930:Cdh1	UTSW	8	106666238	small deletion	probably benign
R8932:Cdh1	UTSW	8	106666238	small deletion	probably benign
R9211:Cdh1	UTSW	8	106664330	missense	probably benign	0.01
R9472:Cdh1	UTSW	8	106653616	missense	probably damaging	1.00
R9649:Cdh1	UTSW	8	106661972	missense	possibly damaging	0.87
Z1177:Cdh1	UTSW	8	106656839	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTAAACCCTTTGATTCACTGAGC -3'
(R):5'- AGAACAGAAGGATCCTGCGC -3'

Sequencing Primer
(F):5'- AACCCTTTGATTCACTGAGCTTTTTG -3'
(R):5'- GATCCTGCGCCCCCTGTAC -3'

Posted On

2014-10-01