Mutagenetix > Incidental Mutation

Incidental Mutation 'R8022:Cdh2'

617497

Institutional Source

Beutler Lab

Gene Symbol

Cdh2

Ensembl Gene

ENSMUSG00000024304

Gene Name

cadherin 2

Synonyms

N-CAD, N-cadherin, Ncad

MMRRC Submission

067461-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16721934-16942303 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16723358 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 856 (L856S)

Ref Sequence

ENSEMBL: ENSMUSP00000025166 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025166] [ENSMUST00000115850]

AlphaFold

P15116

PDB Structure

STRUCTURAL BASIS OF CELL-CELL ADHESION BY CADHERINS [X-RAY DIFFRACTION]
STRUCTURAL BASIS OF CELL-CELL ADHESION BY CADHERINS [X-RAY DIFFRACTION]
STRUCTURAL BASIS OF CELL-CELL ADHESION BY CADHERINS [X-RAY DIFFRACTION]
N-CADHERIN, TWO-DOMAIN FRAGMENT [X-RAY DIFFRACTION]
Solution Structure of Neural Cadherin Prodomain [SOLUTION NMR]
Crystal structure of N-cadherin domains EC12 [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin ectodomain [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin EC1-2 A78SI92M [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin EC1-2 with AA insertion between residues 2 and 3 [X-RAY DIFFRACTION]
Crystal structure of mouse N-cadherin EC1-2 W2F [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000025166
AA Change: L856S

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

SMART Domains

Protein: ENSMUSP00000025166
Gene: ENSMUSG00000024304
AA Change: L856S

Domain	Start	End	E-Value	Type
low complexity region	5	21	N/A	INTRINSIC
Cadherin_pro	31	123	5.77e-34	SMART
low complexity region	129	141	N/A	INTRINSIC
CA	182	265	3.37e-17	SMART
CA	289	380	2.15e-33	SMART
CA	403	496	4.38e-16	SMART
CA	519	603	2.27e-23	SMART
CA	623	708	5.54e-2	SMART
transmembrane domain	724	746	N/A	INTRINSIC
Pfam:Cadherin_C	753	903	6.3e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115850
AA Change: L799S

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

SMART Domains

Protein: ENSMUSP00000111516
Gene: ENSMUSG00000024304
AA Change: L799S

Domain	Start	End	E-Value	Type
Cadherin_pro	1	66	3.44e-9	SMART
low complexity region	72	84	N/A	INTRINSIC
CA	125	208	3.37e-17	SMART
CA	232	323	2.15e-33	SMART
CA	346	439	4.38e-16	SMART
CA	462	546	2.27e-23	SMART
CA	566	651	5.54e-2	SMART
transmembrane domain	667	689	N/A	INTRINSIC
Pfam:Cadherin_C	690	847	2.5e-57	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion. The encoded preproprotein undergoes proteolytic processing to generate a mature protein. Mice lacking the encoded protein exhibit severe developmental defects resulting in embryonic death. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutation of this gene results in death by E10. Mutant embryos exhibit several developmental abnormalities such as growth retardation, an enlarged heart, distended pericardial sacs, abnormal heart tube, wavy neural tube, irregular somite shape,and abnormal embryo turning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,361,915 (GRCm39)	T1386S	probably benign	Het
AI661453	T	G	17: 47,777,161 (GRCm39)	S296A	unknown	Het
Ambp	G	T	4: 63,062,434 (GRCm39)	N268K	probably damaging	Het
Ankrd11	T	C	8: 123,614,332 (GRCm39)	K2503E	probably damaging	Het
Ap1g1	C	A	8: 110,559,367 (GRCm39)	R221S	possibly damaging	Het
Ap5z1	T	C	5: 142,455,904 (GRCm39)		probably null	Het
Aspa	A	C	11: 73,213,032 (GRCm39)	N103K	probably benign	Het
Bend7	G	A	2: 4,757,590 (GRCm39)	V211I	probably benign	Het
Bsn	A	G	9: 107,991,603 (GRCm39)	M1383T	probably benign	Het
Cad	G	T	5: 31,226,150 (GRCm39)	V1117F	probably damaging	Het
Cdh20	T	A	1: 109,988,838 (GRCm39)	S247T	probably benign	Het
Ces1b	A	G	8: 93,795,943 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,751,605 (GRCm39)	V34E	unknown	Het
Clca3a2	A	T	3: 144,511,527 (GRCm39)	F623I	probably damaging	Het
Cope	T	G	8: 70,765,453 (GRCm39)	M217R	probably benign	Het
Crim1	T	A	17: 78,622,984 (GRCm39)	I394N	possibly damaging	Het
Crnkl1	A	T	2: 145,760,486 (GRCm39)	I644N	probably damaging	Het
Cry1	G	A	10: 84,982,266 (GRCm39)	A360V	probably damaging	Het
Ctcfl	A	T	2: 172,960,559 (GRCm39)	V8D	probably benign	Het
Cyp2d34	G	A	15: 82,500,315 (GRCm39)	Q475*	probably null	Het
Cyp39a1	T	C	17: 44,057,468 (GRCm39)	Y436H	probably damaging	Het
Cyp3a25	T	A	5: 145,914,478 (GRCm39)	Q484L	probably benign	Het
Dnah1	A	G	14: 30,986,971 (GRCm39)	F3607S	probably damaging	Het
Dnali1	T	A	4: 124,959,323 (GRCm39)	K23N	possibly damaging	Het
Ecel1	T	C	1: 87,081,052 (GRCm39)	I313V	probably benign	Het
Ehhadh	C	A	16: 21,596,570 (GRCm39)	A53S	probably benign	Het
Epcam	T	C	17: 87,953,736 (GRCm39)	S277P	probably benign	Het
Fbxo10	T	C	4: 45,062,062 (GRCm39)	I155V	possibly damaging	Het
Fgd6	A	T	10: 93,880,206 (GRCm39)	K353N	possibly damaging	Het
Glce	A	T	9: 61,967,873 (GRCm39)	M426K	probably benign	Het
Glmp	A	T	3: 88,233,827 (GRCm39)	N228I	probably damaging	Het
Gm4787	C	A	12: 81,424,494 (GRCm39)	V555F	possibly damaging	Het
Gm5114	T	A	7: 39,058,800 (GRCm39)	H273L	probably benign	Het
Gzmg	T	A	14: 56,394,903 (GRCm39)	T122S	probably benign	Het
Hace1	T	C	10: 45,577,066 (GRCm39)	V820A	probably damaging	Het
Igf2r	T	A	17: 12,937,682 (GRCm39)	D535V	probably damaging	Het
Kcnd3	A	G	3: 105,366,189 (GRCm39)	M20V	probably benign	Het
Kcnn3	T	G	3: 89,517,010 (GRCm39)	I473S	possibly damaging	Het
Klhl35	T	A	7: 99,122,446 (GRCm39)	F94Y	unknown	Het
Kmt2c	C	T	5: 25,486,678 (GRCm39)	V4712I	possibly damaging	Het
Lepr	A	G	4: 101,639,754 (GRCm39)	E740G	probably benign	Het
Lmod3	T	C	6: 97,225,260 (GRCm39)	D187G	probably benign	Het
Lsm3	C	T	6: 91,496,543 (GRCm39)	H49Y	probably benign	Het
Lypd10	T	A	7: 24,413,599 (GRCm39)	I205N	possibly damaging	Het
Magi1	T	C	6: 93,674,346 (GRCm39)	S962G	probably damaging	Het
Man2b1	G	A	8: 85,822,242 (GRCm39)	R782Q	probably damaging	Het
Mical2	A	T	7: 111,902,974 (GRCm39)	K148N	probably damaging	Het
Nbeal1	C	T	1: 60,299,431 (GRCm39)	Q1256*	probably null	Het
Ncam1	G	T	9: 49,476,192 (GRCm39)	A299D	possibly damaging	Het
Ncapg	A	G	5: 45,839,136 (GRCm39)	D512G	probably damaging	Het
Nkiras2	A	G	11: 100,515,113 (GRCm39)	N28D	probably benign	Het
Nprl2	A	C	9: 107,420,260 (GRCm39)	K53T	probably damaging	Het
Nr4a3	T	A	4: 48,051,510 (GRCm39)	I88N	probably damaging	Het
Oas3	A	G	5: 120,895,031 (GRCm39)	I986T	possibly damaging	Het
Or6c76	A	T	10: 129,612,654 (GRCm39)	L305F	possibly damaging	Het
Pcsk1	A	T	13: 75,247,412 (GRCm39)	Y187F	possibly damaging	Het
Pgc	A	G	17: 48,039,701 (GRCm39)	T32A	probably benign	Het
Ranbp2	A	C	10: 58,321,683 (GRCm39)	D2660A	possibly damaging	Het
Retreg1	A	G	15: 25,843,565 (GRCm39)	R46G		Het
Rrbp1	C	A	2: 143,798,712 (GRCm39)	K1100N	probably benign	Het
Rsph10b	A	T	5: 143,904,050 (GRCm39)	T676S	probably benign	Het
Setdb1	A	T	3: 95,245,910 (GRCm39)	F672I	probably damaging	Het
Setdb1	T	A	3: 95,254,396 (GRCm39)	D195V	probably damaging	Het
Slc12a8	A	G	16: 33,445,456 (GRCm39)	E450G	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc25a12	A	T	2: 71,105,533 (GRCm39)	V667E	unknown	Het
Slc39a3	T	C	10: 80,867,111 (GRCm39)	T212A	probably benign	Het
Slc45a1	C	T	4: 150,722,766 (GRCm39)	G373S	possibly damaging	Het
Snx11	G	A	11: 96,663,680 (GRCm39)	T53M	probably damaging	Het
Snx33	A	G	9: 56,832,624 (GRCm39)	F482L	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Stk32a	C	T	18: 43,448,166 (GRCm39)	Q382*	probably null	Het
Sun3	C	A	11: 8,973,376 (GRCm39)	S167I	probably damaging	Het
Sycp2	A	G	2: 177,996,855 (GRCm39)	L1116P	probably damaging	Het
Thbs4	T	G	13: 92,888,955 (GRCm39)	T913P	probably damaging	Het
Trav8d-1	C	T	14: 53,016,284 (GRCm39)	Q57*	probably null	Het
Trio	C	G	15: 27,749,952 (GRCm39)	V2250L	probably benign	Het
Unc119b	A	T	5: 115,265,102 (GRCm39)	I204N	probably damaging	Het
Usp4	A	G	9: 108,255,670 (GRCm39)	E576G	probably damaging	Het
Uvssa	T	A	5: 33,566,848 (GRCm39)	L515Q	probably damaging	Het
Xkr8	T	C	4: 132,459,649 (GRCm39)	Y43C	probably damaging	Het
Xpo6	G	A	7: 125,768,426 (GRCm39)	L94F	probably benign	Het
Zbtb11	A	G	16: 55,826,383 (GRCm39)	K804R	probably damaging	Het
Zfp616	A	G	11: 73,974,894 (GRCm39)	R479G	probably benign	Het
Zfp661	T	C	2: 127,419,844 (GRCm39)	T99A	probably benign	Het
Zfp839	A	T	12: 110,821,532 (GRCm39)	Q115H	probably damaging	Het
Zyg11a	C	T	4: 108,046,765 (GRCm39)		probably null	Het

Other mutations in Cdh2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:Cdh2	APN	18	16,760,693 (GRCm39)	missense	possibly damaging	0.69
IGL01560:Cdh2	APN	18	16,783,495 (GRCm39)	missense	probably benign	0.01
IGL02028:Cdh2	APN	18	16,783,477 (GRCm39)	missense	probably benign	0.07
IGL02227:Cdh2	APN	18	16,762,643 (GRCm39)	missense	probably benign	0.01
IGL02229:Cdh2	APN	18	16,757,810 (GRCm39)	missense	probably benign
IGL02617:Cdh2	APN	18	16,760,661 (GRCm39)	missense	probably damaging	1.00
IGL02685:Cdh2	APN	18	16,779,557 (GRCm39)	missense	probably damaging	1.00
IGL02724:Cdh2	APN	18	16,762,537 (GRCm39)	missense	probably benign	0.29
R0111:Cdh2	UTSW	18	16,907,566 (GRCm39)	missense	probably benign
R0173:Cdh2	UTSW	18	16,783,314 (GRCm39)	splice site	probably benign
R0197:Cdh2	UTSW	18	16,762,633 (GRCm39)	missense	probably benign
R0563:Cdh2	UTSW	18	16,762,738 (GRCm39)	missense	possibly damaging	0.90
R0883:Cdh2	UTSW	18	16,762,633 (GRCm39)	missense	probably benign
R1083:Cdh2	UTSW	18	16,777,016 (GRCm39)	missense	possibly damaging	0.61
R1270:Cdh2	UTSW	18	16,760,614 (GRCm39)	splice site	probably benign
R1469:Cdh2	UTSW	18	16,757,324 (GRCm39)	missense	possibly damaging	0.92
R1469:Cdh2	UTSW	18	16,757,324 (GRCm39)	missense	possibly damaging	0.92
R1510:Cdh2	UTSW	18	16,781,651 (GRCm39)	missense	probably benign
R1875:Cdh2	UTSW	18	16,757,934 (GRCm39)	missense	probably benign
R2122:Cdh2	UTSW	18	16,907,600 (GRCm39)	missense	probably benign	0.01
R2194:Cdh2	UTSW	18	16,773,505 (GRCm39)	missense	probably damaging	1.00
R2254:Cdh2	UTSW	18	16,776,985 (GRCm39)	critical splice donor site	probably null
R4471:Cdh2	UTSW	18	16,907,533 (GRCm39)	splice site	probably null
R4501:Cdh2	UTSW	18	16,762,642 (GRCm39)	missense	possibly damaging	0.53
R4620:Cdh2	UTSW	18	16,781,665 (GRCm39)	missense	probably benign
R4832:Cdh2	UTSW	18	16,760,754 (GRCm39)	missense	probably benign	0.01
R4944:Cdh2	UTSW	18	16,783,466 (GRCm39)	missense	probably damaging	0.99
R4958:Cdh2	UTSW	18	16,760,622 (GRCm39)	splice site	probably null
R5160:Cdh2	UTSW	18	16,762,644 (GRCm39)	missense	probably damaging	0.99
R5190:Cdh2	UTSW	18	16,783,372 (GRCm39)	missense	possibly damaging	0.54
R5446:Cdh2	UTSW	18	16,779,684 (GRCm39)	missense	probably damaging	1.00
R5552:Cdh2	UTSW	18	16,773,520 (GRCm39)	missense	possibly damaging	0.88
R5699:Cdh2	UTSW	18	16,779,579 (GRCm39)	nonsense	probably null
R5912:Cdh2	UTSW	18	16,773,507 (GRCm39)	missense	possibly damaging	0.79
R5949:Cdh2	UTSW	18	16,734,687 (GRCm39)	missense	probably damaging	1.00
R6313:Cdh2	UTSW	18	16,907,579 (GRCm39)	missense	probably benign	0.00
R6633:Cdh2	UTSW	18	16,773,605 (GRCm39)	missense	probably benign	0.00
R7822:Cdh2	UTSW	18	16,757,341 (GRCm39)	missense	probably benign	0.24
R8142:Cdh2	UTSW	18	16,734,791 (GRCm39)	missense	probably benign	0.00
R8152:Cdh2	UTSW	18	16,762,576 (GRCm39)	missense	probably benign	0.02
R8188:Cdh2	UTSW	18	16,781,593 (GRCm39)	missense	probably damaging	1.00
R8461:Cdh2	UTSW	18	16,783,522 (GRCm39)	missense	probably benign	0.44
R8491:Cdh2	UTSW	18	16,757,775 (GRCm39)	critical splice donor site	probably null
R9246:Cdh2	UTSW	18	16,781,654 (GRCm39)	nonsense	probably null
R9477:Cdh2	UTSW	18	16,755,212 (GRCm39)	missense	probably damaging	1.00
R9530:Cdh2	UTSW	18	16,783,466 (GRCm39)	missense	probably damaging	0.99
R9581:Cdh2	UTSW	18	16,803,112 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- AAAAGCCAAGTCCGTCCTGC -3'
(R):5'- TGGCCATCCTTAGGATTGTTTC -3'

Sequencing Primer
(F):5'- AAGTCCGTCCTGCCGTTCAG -3'
(R):5'- TTGTATGACTTCAAAGCCCCAC -3'

Posted On

2020-01-23