Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Cdh1'

235431

Institutional Source

Beutler Lab

Gene Symbol

Cdh1

Ensembl Gene

ENSMUSG00000000303

Gene Name

cadherin 1

Synonyms

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

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

107329983-107396878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107390953 bp (GRCm39)

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: 121,906,048 (GRCm39)	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,726,338 (GRCm39)	L403R	probably damaging	Het
Alox12	A	T	11: 70,133,398 (GRCm39)		probably null	Het
Ankib1	A	T	5: 3,763,210 (GRCm39)	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,597,935 (GRCm39)	Y1268D	probably damaging	Het
Bik	A	G	15: 83,425,624 (GRCm39)	M42V	probably benign	Het
Bola1	A	T	3: 96,104,517 (GRCm39)	S26T	probably benign	Het
Bub1	T	C	2: 127,643,201 (GRCm39)	I1048V	probably benign	Het
Cad	A	G	5: 31,219,564 (GRCm39)	N621S	probably damaging	Het
Camkv	C	A	9: 107,822,799 (GRCm39)	N69K	possibly damaging	Het
Ccdc110	T	C	8: 46,395,876 (GRCm39)	M589T	probably benign	Het
Ccdc154	T	A	17: 25,389,864 (GRCm39)	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,777,691 (GRCm39)	L252P	probably damaging	Het
Cfap157	T	G	2: 32,668,175 (GRCm39)		probably null	Het
Cux2	A	G	5: 122,025,540 (GRCm39)	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 106,925,880 (GRCm39)	P21S	probably damaging	Het
Cyp51	T	G	5: 4,136,594 (GRCm39)	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,137,152 (GRCm39)		probably benign	Het
Efcab3	G	A	11: 104,642,688 (GRCm39)	V1104I	possibly damaging	Het
Ephb4	A	G	5: 137,352,688 (GRCm39)	I90M	probably benign	Het
Fam13c	A	G	10: 70,378,523 (GRCm39)	N269S	probably damaging	Het
Fam83c	T	A	2: 155,673,444 (GRCm39)	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,194,542 (GRCm39)	F1166L	probably benign	Het
Fem1a	A	G	17: 56,564,686 (GRCm39)	N260D	probably benign	Het
Fnbp4	T	A	2: 90,597,743 (GRCm39)		probably null	Het
Fut9	T	A	4: 25,619,733 (GRCm39)	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734 (GRCm39)	*360L	probably null	Het
Gm3727	T	A	14: 7,264,625 (GRCm38)	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,270,211 (GRCm39)	V75M	probably damaging	Het
Haspin	A	C	11: 73,027,456 (GRCm39)	N544K	probably damaging	Het
Havcr1	A	G	11: 46,669,379 (GRCm39)	N286S	probably benign	Het
Lrp6	A	C	6: 134,436,246 (GRCm39)	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,808,645 (GRCm39)	H294P	possibly damaging	Het
Mettl25b	A	T	3: 87,834,360 (GRCm39)		probably null	Het
Mon2	A	C	10: 122,878,269 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgprb1	T	C	7: 48,097,070 (GRCm39)	I281V	probably benign	Het
Muc4	A	G	16: 32,569,294 (GRCm39)	E118G	probably damaging	Het
Nefh	T	C	11: 4,893,872 (GRCm39)	D394G	probably damaging	Het
Neurl4	A	G	11: 69,794,047 (GRCm39)	T168A	probably benign	Het
Or10s1	A	G	9: 39,986,211 (GRCm39)	N207D	possibly damaging	Het
Or1j18	T	A	2: 36,624,713 (GRCm39)	C127S	probably damaging	Het
Or51a10	T	C	7: 103,698,845 (GRCm39)	T239A	probably benign	Het
Or5ak4	A	T	2: 85,161,446 (GRCm39)	N265K	probably benign	Het
Oxsr1	A	C	9: 119,123,498 (GRCm39)	M92R	probably damaging	Het
Pde8a	T	C	7: 80,945,516 (GRCm39)		probably null	Het
Pex5l	T	A	3: 33,007,281 (GRCm39)		probably null	Het
Pik3r4	T	A	9: 105,549,984 (GRCm39)	M1025K	probably benign	Het
Plch1	C	T	3: 63,605,903 (GRCm39)	E1325K	probably benign	Het
Plin2	A	T	4: 86,586,669 (GRCm39)	V54E	probably damaging	Het
Prss47	A	T	13: 65,192,887 (GRCm39)	I298N	probably damaging	Het
Prune2	A	G	19: 17,097,546 (GRCm39)	R1017G	probably benign	Het
Psg19	T	A	7: 18,530,911 (GRCm39)	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Serpinb1a	T	C	13: 33,034,397 (GRCm39)		probably benign	Het
Sh3pxd2a	A	T	19: 47,266,794 (GRCm39)	V265E	probably damaging	Het
Slc22a17	A	T	14: 55,146,282 (GRCm39)	Y337*	probably null	Het
Slc25a27	A	G	17: 43,968,663 (GRCm39)	V138A	probably benign	Het
Slc4a2	A	G	5: 24,636,314 (GRCm39)	Y220C	probably damaging	Het
Slc66a3	G	A	12: 17,039,840 (GRCm39)	L192F	probably damaging	Het
Stab1	A	T	14: 30,890,392 (GRCm39)	S20T	probably benign	Het
Tcstv2a	A	T	13: 120,725,633 (GRCm39)	Q99L	probably damaging	Het
Thsd1	G	T	8: 22,728,538 (GRCm39)		probably benign	Het
Tmem204	G	A	17: 25,299,566 (GRCm39)		probably benign	Het
Tom1l1	A	G	11: 90,540,721 (GRCm39)		probably benign	Het
Toporsl	T	A	4: 52,612,072 (GRCm39)	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,301,553 (GRCm39)	K852E	unknown	Het
Wdpcp	T	G	11: 21,641,884 (GRCm39)	L174R	probably damaging	Het
Zbbx	G	A	3: 75,019,414 (GRCm39)	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp600	A	T	4: 146,133,488 (GRCm39)	R719*	probably null	Het
Zfp697	C	A	3: 98,335,330 (GRCm39)	A365E	unknown	Het
Zfp957	A	C	14: 79,451,053 (GRCm39)	S249A	probably benign	Het

Other mutations in Cdh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Cdh1	APN	8	107,387,516 (GRCm39)	missense	probably damaging	1.00
IGL01405:Cdh1	APN	8	107,375,633 (GRCm39)	missense	probably damaging	0.97
IGL01410:Cdh1	APN	8	107,384,485 (GRCm39)	missense	probably benign	0.19
IGL01901:Cdh1	APN	8	107,384,392 (GRCm39)	missense	probably damaging	0.99
IGL02197:Cdh1	APN	8	107,380,418 (GRCm39)	missense	probably benign	0.29
IGL02580:Cdh1	APN	8	107,375,650 (GRCm39)	missense	probably benign	0.01
IGL02690:Cdh1	APN	8	107,384,516 (GRCm39)	missense	probably damaging	1.00
IGL02732:Cdh1	APN	8	107,392,955 (GRCm39)	missense	probably damaging	1.00
IGL02927:Cdh1	APN	8	107,395,143 (GRCm39)	missense	probably damaging	1.00
R1777:Cdh1	UTSW	8	107,383,467 (GRCm39)	missense	probably damaging	1.00
R1826:Cdh1	UTSW	8	107,392,898 (GRCm39)	missense	probably benign	0.03
R1892:Cdh1	UTSW	8	107,390,882 (GRCm39)	missense	possibly damaging	0.72
R2045:Cdh1	UTSW	8	107,392,814 (GRCm39)	splice site	probably benign
R2100:Cdh1	UTSW	8	107,386,300 (GRCm39)	missense	possibly damaging	0.57
R2104:Cdh1	UTSW	8	107,380,391 (GRCm39)	splice site	probably benign
R2118:Cdh1	UTSW	8	107,390,842 (GRCm39)	missense	probably benign
R2121:Cdh1	UTSW	8	107,390,842 (GRCm39)	missense	probably benign
R2124:Cdh1	UTSW	8	107,390,842 (GRCm39)	missense	probably benign
R2125:Cdh1	UTSW	8	107,383,472 (GRCm39)	missense	probably damaging	0.99
R2163:Cdh1	UTSW	8	107,375,713 (GRCm39)	missense	probably benign	0.01
R2266:Cdh1	UTSW	8	107,388,635 (GRCm39)	missense	probably benign
R2761:Cdh1	UTSW	8	107,380,481 (GRCm39)	missense	possibly damaging	0.90
R4547:Cdh1	UTSW	8	107,390,535 (GRCm39)	missense	probably damaging	1.00
R5131:Cdh1	UTSW	8	107,390,430 (GRCm39)	missense	possibly damaging	0.95
R5767:Cdh1	UTSW	8	107,395,187 (GRCm39)	missense	probably damaging	0.97
R5931:Cdh1	UTSW	8	107,392,964 (GRCm39)	critical splice donor site	probably null
R6254:Cdh1	UTSW	8	107,390,430 (GRCm39)	missense	probably damaging	1.00
R6397:Cdh1	UTSW	8	107,330,922 (GRCm39)	missense	possibly damaging	0.81
R6888:Cdh1	UTSW	8	107,384,946 (GRCm39)	missense	probably benign	0.09
R6928:Cdh1	UTSW	8	107,387,642 (GRCm39)	missense	possibly damaging	0.93
R6995:Cdh1	UTSW	8	107,387,545 (GRCm39)	missense	probably benign	0.02
R7110:Cdh1	UTSW	8	107,395,176 (GRCm39)	missense	possibly damaging	0.87
R8069:Cdh1	UTSW	8	107,384,405 (GRCm39)	missense	probably benign	0.26
R8260:Cdh1	UTSW	8	107,330,979 (GRCm39)	missense	probably benign	0.01
R8387:Cdh1	UTSW	8	107,390,501 (GRCm39)	missense	probably benign	0.02
R8762:Cdh1	UTSW	8	107,386,336 (GRCm39)	missense	probably damaging	1.00
R8881:Cdh1	UTSW	8	107,392,904 (GRCm39)	missense	probably benign	0.00
R8888:Cdh1	UTSW	8	107,330,971 (GRCm39)	missense	probably damaging	1.00
R8928:Cdh1	UTSW	8	107,392,870 (GRCm39)	small deletion	probably benign
R8929:Cdh1	UTSW	8	107,392,870 (GRCm39)	small deletion	probably benign
R8930:Cdh1	UTSW	8	107,392,870 (GRCm39)	small deletion	probably benign
R8932:Cdh1	UTSW	8	107,392,870 (GRCm39)	small deletion	probably benign
R9211:Cdh1	UTSW	8	107,390,962 (GRCm39)	missense	probably benign	0.01
R9472:Cdh1	UTSW	8	107,380,248 (GRCm39)	missense	probably damaging	1.00
R9649:Cdh1	UTSW	8	107,388,604 (GRCm39)	missense	possibly damaging	0.87
Z1177:Cdh1	UTSW	8	107,383,471 (GRCm39)	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