Mutagenetix > Incidental Mutation

Incidental Mutation 'R2163:Cdh1'

235287

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

040166-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2163 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107329983-107396878 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107375713 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 84 (T84A)

Ref Sequence

ENSEMBL: ENSMUSP00000132112 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000312
AA Change: T84A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000000312
Gene: ENSMUSG00000000303
AA Change: T84A

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 benign
Transcript: ENSMUST00000167688
AA Change: T84A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000132112
Gene: ENSMUSG00000000303
AA Change: T84A

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

97% (76/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I07Rik	C	A	14: 67,175,997 (GRCm39)	T64K	unknown	Het
Ablim2	T	C	5: 35,959,697 (GRCm39)		probably benign	Het
Acp4	T	C	7: 43,905,400 (GRCm39)	D107G	probably damaging	Het
Adamts2	T	A	11: 50,679,632 (GRCm39)	C871S	probably benign	Het
Adamts3	A	G	5: 89,856,577 (GRCm39)	V332A	probably damaging	Het
Alkal1	C	T	1: 6,459,736 (GRCm39)	T104M	probably benign	Het
Astn1	A	G	1: 158,329,720 (GRCm39)	S192G	probably damaging	Het
Axdnd1	A	C	1: 156,219,573 (GRCm39)	V337G	probably damaging	Het
Baiap2l2	T	C	15: 79,143,395 (GRCm39)	D481G	possibly damaging	Het
Cacna2d1	C	T	5: 16,567,317 (GRCm39)	T964I	probably damaging	Het
Carf	T	C	1: 60,186,645 (GRCm39)		probably benign	Het
Catsper2	T	C	2: 121,230,656 (GRCm39)	D295G	probably damaging	Het
Chd8	T	A	14: 52,436,275 (GRCm39)	H2508L	possibly damaging	Het
Chl1	A	T	6: 103,688,192 (GRCm39)	T284S	probably damaging	Het
Chtop	A	T	3: 90,409,518 (GRCm39)	M125K	probably benign	Het
Col14a1	T	A	15: 55,308,041 (GRCm39)		probably benign	Het
Cplane1	T	A	15: 8,232,735 (GRCm39)		probably null	Het
Cyp2b10	A	T	7: 25,624,810 (GRCm39)		probably benign	Het
Cyp2c70	G	A	19: 40,149,163 (GRCm39)	H328Y	possibly damaging	Het
Dcbld1	A	G	10: 52,162,452 (GRCm39)	T77A	probably damaging	Het
Dnah6	A	T	6: 73,066,729 (GRCm39)		probably null	Het
Efhd1	A	T	1: 87,217,195 (GRCm39)	D104V	probably damaging	Het
Eif5b	A	T	1: 38,087,875 (GRCm39)	D957V	probably benign	Het
Eps15	T	A	4: 109,227,866 (GRCm39)	S549R	probably damaging	Het
Fbxo3	C	A	2: 103,885,330 (GRCm39)	H400N	probably benign	Het
Fcer1a	A	G	1: 173,050,264 (GRCm39)	V86A	probably damaging	Het
Fh1	A	G	1: 175,442,406 (GRCm39)	M148T	possibly damaging	Het
Foxc1	C	A	13: 31,992,586 (GRCm39)	H466N	unknown	Het
Gadl1	T	A	9: 115,778,626 (GRCm39)	I180N	possibly damaging	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Gm21718	T	C	14: 51,555,223 (GRCm39)		noncoding transcript	Het
Hivep2	T	A	10: 14,003,970 (GRCm39)	Y189*	probably null	Het
Hoxd13	T	A	2: 74,499,413 (GRCm39)	S254T	possibly damaging	Het
Hspd1	A	G	1: 55,117,697 (GRCm39)		probably benign	Het
Il1r1	A	G	1: 40,334,023 (GRCm39)	M198V	probably benign	Het
Katnal1	T	A	5: 148,825,746 (GRCm39)	I362F	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Mybpc1	T	C	10: 88,376,804 (GRCm39)		probably benign	Het
Mycbp2	A	G	14: 103,407,291 (GRCm39)		probably null	Het
Nell2	G	T	15: 95,327,859 (GRCm39)	N301K	probably damaging	Het
Nenf	T	A	1: 191,042,132 (GRCm39)	D108V	probably damaging	Het
Nfkbiz	T	C	16: 55,638,581 (GRCm39)	N293S	probably benign	Het
Nipbl	T	C	15: 8,366,403 (GRCm39)	K1229E	probably damaging	Het
Nlrp4a	T	C	7: 26,152,822 (GRCm39)	F631L	probably benign	Het
Nrp1	T	A	8: 129,224,352 (GRCm39)	V705E	probably damaging	Het
Nsf	G	C	11: 103,754,159 (GRCm39)	A459G	possibly damaging	Het
Or1af1	A	G	2: 37,110,089 (GRCm39)	E196G	probably damaging	Het
Or5w10	A	G	2: 87,375,238 (GRCm39)	S217P	probably damaging	Het
Pdia4	C	T	6: 47,775,341 (GRCm39)	D490N	possibly damaging	Het
Pinlyp	T	A	7: 24,241,226 (GRCm39)	Y192F	probably benign	Het
Pkd2	T	C	5: 104,603,543 (GRCm39)		probably benign	Het
Ppara	A	G	15: 85,685,247 (GRCm39)	K399E	probably benign	Het
Ppp4r2	C	A	6: 100,842,047 (GRCm39)	N169K	probably damaging	Het
Prom1	T	A	5: 44,171,505 (GRCm39)	E632V	possibly damaging	Het
Rpap3	T	A	15: 97,578,229 (GRCm39)	Y562F	possibly damaging	Het
Rsph14	T	A	10: 74,793,611 (GRCm39)	K263N	probably damaging	Het
Sanbr	T	C	11: 23,526,826 (GRCm39)		probably benign	Het
Scn11a	T	G	9: 119,584,091 (GRCm39)	D1508A	probably damaging	Het
Scn7a	T	C	2: 66,506,300 (GRCm39)	T1530A	probably damaging	Het
Sec14l1	T	A	11: 117,034,108 (GRCm39)		probably null	Het
Slc4a4	A	G	5: 89,362,435 (GRCm39)	I840V	probably damaging	Het
Slco1a8	G	A	6: 141,926,664 (GRCm39)	T554I	possibly damaging	Het
Slco1c1	T	A	6: 141,505,478 (GRCm39)	V419D	probably benign	Het
Sltm	T	A	9: 70,498,964 (GRCm39)	F1013I	probably damaging	Het
Spam1	A	G	6: 24,796,846 (GRCm39)	K266E	probably benign	Het
Syt15	A	G	14: 33,948,073 (GRCm39)	E306G	probably benign	Het
Tap1	A	T	17: 34,408,447 (GRCm39)		probably null	Het
Tbc1d16	G	C	11: 119,045,904 (GRCm39)		probably benign	Het
Tex47	T	C	5: 7,355,022 (GRCm39)	Y68H	probably damaging	Het
Ttn	T	C	2: 76,642,845 (GRCm39)	T13264A	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubxn2a	A	T	12: 4,935,757 (GRCm39)	F131Y	probably damaging	Het
Usp40	T	C	1: 87,923,580 (GRCm39)		probably benign	Het
Vmn1r170	T	C	7: 23,306,462 (GRCm39)	L288P	probably damaging	Het
Vmn1r175	A	G	7: 23,508,352 (GRCm39)	Y92H	probably benign	Het
Wdpcp	G	T	11: 21,835,015 (GRCm39)	E673*	probably null	Het
Zfr	T	A	15: 12,162,309 (GRCm39)	L820I	probably damaging	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
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'- GATGTGCTAGATGAATCAGGTTCC -3'
(R):5'- AGTGCTAAGACTAGAGGCCC -3'

Sequencing Primer
(F):5'- AATCAGGTTCCCTTTCTGGAGAAG -3'
(R):5'- CCAGATTAGACAGCTCCCTG -3'

Posted On

2014-10-01