Mutagenetix > Incidental Mutation

Incidental Mutation 'R1892:Cdh1'

211607

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

039912-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1892 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107329983-107396878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 107390882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Isoleucine at position 666 (K666I)

Ref Sequence

ENSEMBL: ENSMUSP00000132112 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000000312
AA Change: K666I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000000312
Gene: ENSMUSG00000000303
AA Change: K666I

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

possibly damaging
Transcript: ENSMUST00000167688
AA Change: K666I

PolyPhen 2 Score 0.722 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132112
Gene: ENSMUSG00000000303
AA Change: K666I

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	G	A	7: 119,815,561 (GRCm39)	A270T	probably benign	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Adat3	T	C	10: 80,442,249 (GRCm39)	L29P	probably damaging	Het
AI987944	A	T	7: 41,024,020 (GRCm39)	C320S	probably damaging	Het
Asic4	C	T	1: 75,446,126 (GRCm39)	R285W	probably damaging	Het
Asic5	A	T	3: 81,928,293 (GRCm39)	I419L	probably damaging	Het
Batf	A	G	12: 85,736,102 (GRCm39)	K42E	probably damaging	Het
Bcar3	A	G	3: 122,301,785 (GRCm39)	N160S	probably benign	Het
Bco2	C	A	9: 50,461,863 (GRCm39)	G47V	probably damaging	Het
Bicc1	T	G	10: 70,794,614 (GRCm39)	K181T	probably damaging	Het
Brinp2	A	G	1: 158,082,542 (GRCm39)		probably null	Het
Cacng8	A	G	7: 3,463,568 (GRCm39)	D240G	possibly damaging	Het
Calca	A	G	7: 114,232,962 (GRCm39)	Y96H	probably damaging	Het
Cdh16	A	T	8: 105,344,631 (GRCm39)	I500N	possibly damaging	Het
Chst14	A	G	2: 118,757,830 (GRCm39)	Y208C	probably damaging	Het
Chst9	T	C	18: 15,586,017 (GRCm39)	H182R	probably damaging	Het
Clk2	A	G	3: 89,082,502 (GRCm39)	I367M	possibly damaging	Het
Cobl	G	C	11: 12,203,258 (GRCm39)	S1066W	probably damaging	Het
Ctcfl	A	G	2: 172,960,478 (GRCm39)	V35A	probably benign	Het
Dchs1	G	T	7: 105,413,363 (GRCm39)	H1151N	probably benign	Het
Dennd1c	T	C	17: 57,374,083 (GRCm39)	T529A	probably benign	Het
Dnah11	A	T	12: 118,070,209 (GRCm39)	V1532D	possibly damaging	Het
Dync1h1	A	G	12: 110,612,738 (GRCm39)	Y2871C	probably damaging	Het
Dytn	T	C	1: 63,716,420 (GRCm39)	E51G	probably benign	Het
Esd	C	T	14: 74,987,113 (GRCm39)	A266V	probably damaging	Het
Gli1	T	C	10: 127,165,975 (GRCm39)	M1093V	possibly damaging	Het
Gm15446	A	G	5: 110,091,253 (GRCm39)	K502E	probably damaging	Het
Gm4076	T	A	13: 85,275,447 (GRCm39)		noncoding transcript	Het
Gm9830	A	G	9: 44,375,825 (GRCm39)		noncoding transcript	Het
Gm9938	G	A	19: 23,701,955 (GRCm39)		probably benign	Het
Grhl1	G	A	12: 24,634,909 (GRCm39)	R245H	probably damaging	Het
Hnrnpul1	A	T	7: 25,426,191 (GRCm39)	D553E	probably benign	Het
Hpn	G	A	7: 30,798,468 (GRCm39)	Q415*	probably null	Het
Hsd11b1	T	G	1: 192,906,068 (GRCm39)	M175L	probably benign	Het
Htra1	G	A	7: 130,586,799 (GRCm39)	V461I	possibly damaging	Het
Il1rl2	A	G	1: 40,366,694 (GRCm39)	H76R	probably damaging	Het
Insrr	G	A	3: 87,721,184 (GRCm39)	V1112M	probably damaging	Het
Ints9	T	C	14: 65,257,872 (GRCm39)	S351P	probably benign	Het
Itgav	T	A	2: 83,601,680 (GRCm39)	N350K	probably damaging	Het
Kdm4d	C	A	9: 14,375,613 (GRCm39)	V82L	probably benign	Het
Klc1	T	C	12: 111,748,261 (GRCm39)		probably null	Het
Kmt5c	T	A	7: 4,745,714 (GRCm39)	C69*	probably null	Het
Lgals3	T	G	14: 47,622,164 (GRCm39)	N193K	possibly damaging	Het
Morc2b	T	A	17: 33,354,748 (GRCm39)	D1008V	probably damaging	Het
Mpg	C	T	11: 32,181,720 (GRCm39)	Q243*	probably null	Het
Muc15	C	T	2: 110,567,697 (GRCm39)	R281*	probably null	Het
Ncstn	CAGCTCCACGAAG	CAG	1: 171,899,038 (GRCm39)		probably null	Het
Nek5	A	G	8: 22,597,745 (GRCm39)	M278T	probably benign	Het
Npas2	A	G	1: 39,384,503 (GRCm39)	T599A	probably benign	Het
Nrf1	A	G	6: 30,144,787 (GRCm39)	D519G	probably null	Het
Nup43	A	G	10: 7,549,373 (GRCm39)	H176R	probably damaging	Het
Nxpe2	T	C	9: 48,237,914 (GRCm39)	T114A	probably damaging	Het
Or10j3	T	C	1: 173,031,795 (GRCm39)	Y291H	probably damaging	Het
Or5p72	A	T	7: 108,022,147 (GRCm39)	Y123F	possibly damaging	Het
Or6c75	A	C	10: 129,336,902 (GRCm39)	I50L	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Pik3ip1	G	T	11: 3,283,304 (GRCm39)	A135S	probably damaging	Het
Pira13	A	C	7: 3,827,573 (GRCm39)	C195G	probably benign	Het
Ppp4c	A	G	7: 126,385,452 (GRCm39)	V119A	probably damaging	Het
Prepl	A	G	17: 85,395,878 (GRCm39)	Y35H	possibly damaging	Het
Ptpn13	A	G	5: 103,649,545 (GRCm39)	Y316C	possibly damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Ranbp2	T	C	10: 58,299,921 (GRCm39)	V491A	probably benign	Het
Ranbp9	C	A	13: 43,569,933 (GRCm39)	C495F	possibly damaging	Het
Rfx8	A	T	1: 39,709,746 (GRCm39)		probably null	Het
Rnf111	T	A	9: 70,383,656 (GRCm39)	K92N	probably damaging	Het
Rtn1	A	G	12: 72,259,337 (GRCm39)	I772T	probably damaging	Het
Ryr2	T	A	13: 11,673,844 (GRCm39)	K72*	probably null	Het
Sergef	A	T	7: 46,264,040 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,620,665 (GRCm39)	N305S	probably damaging	Het
Slc40a1	A	T	1: 45,950,302 (GRCm39)	C383*	probably null	Het
Stab2	C	T	10: 86,773,913 (GRCm39)	C806Y	probably damaging	Het
Stard9	A	G	2: 120,524,189 (GRCm39)	T795A	probably benign	Het
Stk31	T	C	6: 49,415,408 (GRCm39)	I536T	probably damaging	Het
Stox1	T	A	10: 62,501,178 (GRCm39)	T461S	possibly damaging	Het
Suv39h2	T	C	2: 3,460,805 (GRCm39)	Y219C	probably damaging	Het
Tap1	T	G	17: 34,413,915 (GRCm39)	D643E	probably damaging	Het
Tbc1d2b	T	A	9: 90,100,996 (GRCm39)	I665F	probably damaging	Het
Tdrd6	T	C	17: 43,935,696 (GRCm39)	N1784S	probably benign	Het
Tmem14c	T	C	13: 41,174,633 (GRCm39)	F81L	possibly damaging	Het
Tnrc6c	A	G	11: 117,605,188 (GRCm39)	N108D	probably benign	Het
Tox3	A	T	8: 90,996,869 (GRCm39)	N131K	probably benign	Het
Tspear	T	A	10: 77,706,308 (GRCm39)	D359E	probably benign	Het
Ttc9	A	G	12: 81,678,551 (GRCm39)	I125V	probably benign	Het
Ttn	A	T	2: 76,728,531 (GRCm39)		probably benign	Het
Ubn2	C	T	6: 38,468,226 (GRCm39)	S980F	probably damaging	Het
Vcf1	G	T	11: 113,554,212 (GRCm39)	P161H	probably damaging	Het
Zfp362	T	A	4: 128,684,057 (GRCm39)	T30S	probably benign	Het
Zfp385c	A	C	11: 100,528,630 (GRCm39)	H32Q	probably damaging	Het
Zfp870	A	T	17: 33,102,863 (GRCm39)	H156Q	possibly damaging	Het
Zfp873	T	C	10: 81,897,080 (GRCm39)	C641R	probably damaging	Het
Zfp950	A	T	19: 61,107,549 (GRCm39)	H511Q	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
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
R2165:Cdh1	UTSW	8	107,390,953 (GRCm39)	missense	probably damaging	1.00
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'- GTATTGCGCGGTATTCCTCC -3'
(R):5'- GGCCCTTCCTGGTTTTAGAG -3'

Sequencing Primer
(F):5'- CAGCACTCGATGTCTCTGG -3'
(R):5'- TGAACTTACTCAGCAGGGC -3'

Posted On

2014-06-30