Mutagenetix > Incidental Mutation

Incidental Mutation 'R2125:Cdh1'

229767

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

040128-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2125 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107329983-107396878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107383472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 237 (V237A)

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: V237A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000000312
Gene: ENSMUSG00000000303
AA Change: V237A

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

noncoding transcript
Transcript: ENSMUST00000136580

Predicted Effect

probably damaging
Transcript: ENSMUST00000167688
AA Change: V237A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132112
Gene: ENSMUSG00000000303
AA Change: V237A

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,947,066 (GRCm39)	T255A	possibly damaging	Het
Abcb10	A	C	8: 124,691,831 (GRCm39)	V378G	probably benign	Het
Ackr2	C	T	9: 121,737,852 (GRCm39)	R76*	probably null	Het
Acly	T	C	11: 100,414,322 (GRCm39)	T35A	probably benign	Het
Acp7	A	C	7: 28,328,974 (GRCm39)	F69V	probably damaging	Het
Acsl3	T	A	1: 78,659,678 (GRCm39)	I110N	probably damaging	Het
Adam5	C	T	8: 25,305,134 (GRCm39)	V107M	probably damaging	Het
Adck2	T	C	6: 39,552,076 (GRCm39)	V281A	probably benign	Het
Adgrv1	A	G	13: 81,567,654 (GRCm39)	V5173A	probably benign	Het
Adgrv1	A	T	13: 81,568,069 (GRCm39)	S5035T	probably benign	Het
Arl10	T	A	13: 54,726,937 (GRCm39)		probably null	Het
B3gnt3	A	G	8: 72,146,002 (GRCm39)	W176R	probably damaging	Het
B4galt4	T	C	16: 38,586,300 (GRCm39)	I3T	probably damaging	Het
Casr	T	C	16: 36,315,614 (GRCm39)	I819V	possibly damaging	Het
Col22a1	G	A	15: 71,720,426 (GRCm39)	R605C	unknown	Het
Crlf3	A	G	11: 79,950,081 (GRCm39)	V183A	probably benign	Het
Crtac1	C	A	19: 42,312,171 (GRCm39)	V181L	probably damaging	Het
Dclk2	C	T	3: 86,712,946 (GRCm39)	R503Q	possibly damaging	Het
Dnah12	A	T	14: 26,445,613 (GRCm39)	R725*	probably null	Het
Dnhd1	A	T	7: 105,327,178 (GRCm39)	H709L	probably benign	Het
Dop1a	A	G	9: 86,403,099 (GRCm39)	Y1431C	probably damaging	Het
Ecpas	T	C	4: 58,833,978 (GRCm39)	H834R	probably benign	Het
Eif2ak4	A	T	2: 118,252,604 (GRCm39)	H392L	probably benign	Het
Entpd3	T	C	9: 120,384,720 (GRCm39)	I99T	probably damaging	Het
Epha6	T	C	16: 59,503,051 (GRCm39)	D952G	probably damaging	Het
Exoc6	T	C	19: 37,579,389 (GRCm39)	L429P	probably damaging	Het
F13a1	A	G	13: 37,076,815 (GRCm39)	S625P	probably benign	Het
Fcgbpl1	A	T	7: 27,857,447 (GRCm39)	Y2265F	probably benign	Het
Fcho2	T	C	13: 98,912,406 (GRCm39)	N240S	possibly damaging	Het
Fcrl6	C	T	1: 172,426,815 (GRCm39)	V44M	probably benign	Het
Fmo6	A	T	1: 162,757,527 (GRCm39)	M82K	possibly damaging	Het
Gabrr2	T	G	4: 33,095,548 (GRCm39)	I479R	probably damaging	Het
Gnl2	T	A	4: 124,947,278 (GRCm39)	F633L	probably benign	Het
Greb1l	C	T	18: 10,511,422 (GRCm39)	S648F	probably damaging	Het
Gsap	T	A	5: 21,447,811 (GRCm39)	C290S	probably damaging	Het
Gusb	A	G	5: 130,028,288 (GRCm39)	V268A	probably benign	Het
H2-D1	G	A	17: 35,483,091 (GRCm39)		probably null	Het
Hebp2	T	A	10: 18,417,008 (GRCm39)	E164D	probably benign	Het
Higd1a	A	T	9: 121,679,313 (GRCm39)	I58N	probably damaging	Het
Hoxc13	G	T	15: 102,835,658 (GRCm39)	R262L	probably damaging	Het
Ifih1	A	G	2: 62,453,811 (GRCm39)	V218A	probably benign	Het
Impg2	T	A	16: 56,085,427 (GRCm39)	Y1045N	probably damaging	Het
Kcnk1	A	G	8: 126,722,395 (GRCm39)	E66G	probably damaging	Het
Klkb1	A	G	8: 45,728,541 (GRCm39)	V406A	possibly damaging	Het
Klra10	G	A	6: 130,256,241 (GRCm39)	R138W	probably damaging	Het
Lama2	A	C	10: 26,920,449 (GRCm39)	Y193*	probably null	Het
Larp7	T	C	3: 127,336,779 (GRCm39)	T428A	probably benign	Het
Lipg	T	C	18: 75,078,956 (GRCm39)	N432S	probably benign	Het
Loxl1	T	C	9: 58,200,995 (GRCm39)	D489G	probably damaging	Het
Lrguk	A	G	6: 34,069,837 (GRCm39)	K571E	probably benign	Het
Map3k13	C	T	16: 21,710,894 (GRCm39)	T59I	probably benign	Het
Mertk	T	A	2: 128,604,058 (GRCm39)	D397E	probably benign	Het
Mgat3	G	A	15: 80,096,087 (GRCm39)	V305I	probably benign	Het
Mrtfb	T	C	16: 13,218,668 (GRCm39)	V449A	possibly damaging	Het
Mybpc1	G	A	10: 88,409,299 (GRCm39)	Q66*	probably null	Het
Myo3a	A	G	2: 22,468,186 (GRCm39)	D480G	probably benign	Het
Ndufaf3	C	T	9: 108,443,936 (GRCm39)	R31Q	probably benign	Het
Neb	T	C	2: 52,200,650 (GRCm39)	Y343C	probably damaging	Het
Nrxn3	A	G	12: 89,227,290 (GRCm39)		probably null	Het
Or4c10b	A	G	2: 89,711,982 (GRCm39)	M271V	probably benign	Het
Or8k40	A	T	2: 86,584,796 (GRCm39)	N95K	probably benign	Het
Pcsk4	T	C	10: 80,159,713 (GRCm39)	M379V	probably benign	Het
Pdzd2	A	T	15: 12,373,676 (GRCm39)	V2153E	probably benign	Het
Pkd2l1	T	C	19: 44,142,939 (GRCm39)	D427G	possibly damaging	Het
Plcd4	A	G	1: 74,604,311 (GRCm39)	Y763C	probably damaging	Het
Plekhh1	T	C	12: 79,125,774 (GRCm39)	F1270S	probably damaging	Het
Pmfbp1	T	C	8: 110,246,905 (GRCm39)	V259A	probably damaging	Het
Ptprg	T	C	14: 12,179,283 (GRCm38)	S767P	possibly damaging	Het
Rabl3	T	G	16: 37,377,175 (GRCm39)		probably null	Het
Rffl	T	A	11: 82,709,264 (GRCm39)	H53L	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,560,355 (GRCm39)	V495I	possibly damaging	Het
Scaf11	A	T	15: 96,317,196 (GRCm39)	D789E	possibly damaging	Het
Scn2a	T	A	2: 65,582,423 (GRCm39)	Y1590*	probably null	Het
Siglech	T	A	7: 55,421,434 (GRCm39)	F190I	probably benign	Het
Slc22a22	C	A	15: 57,117,636 (GRCm39)	A302S	probably damaging	Het
Slc46a3	T	A	5: 147,815,954 (GRCm39)	T458S	probably benign	Het
Spta1	G	T	1: 174,035,910 (GRCm39)	R1072L	possibly damaging	Het
Tbx5	A	G	5: 119,974,988 (GRCm39)	T4A	probably benign	Het
Tdrd5	T	C	1: 156,104,143 (GRCm39)	R528G	probably damaging	Het
Tfip11	T	C	5: 112,483,529 (GRCm39)	V648A	possibly damaging	Het
Thumpd3	T	C	6: 113,043,749 (GRCm39)	V388A	probably benign	Het
Tmem131l	C	T	3: 83,850,058 (GRCm39)		probably null	Het
Ttf2	C	A	3: 100,855,509 (GRCm39)	Q895H	possibly damaging	Het
Ttn	A	T	2: 76,720,436 (GRCm39)		probably null	Het
Vmn2r13	A	G	5: 109,306,058 (GRCm39)	S507P	probably benign	Het
Vtn	A	G	11: 78,391,049 (GRCm39)	T210A	probably damaging	Het
Zfp1010	C	A	2: 176,957,195 (GRCm39)	C101F	probably damaging	Het
Znhit2	A	G	19: 6,112,091 (GRCm39)	T279A	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
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'- AGCTTTGAGACTTCATCATGAGTTC -3'
(R):5'- GTCGGAACTTCAGTGACACG -3'

Sequencing Primer
(F):5'- TGAGTTCATTAAGCAGCAACAC -3'
(R):5'- TCGGAACTTCAGTGACACGATCTC -3'

Posted On

2014-09-17