Mutagenetix > Incidental Mutation

Incidental Mutation 'R9246:Cdh2'

701331

Institutional Source

Beutler Lab

Gene Symbol

Cdh2

Ensembl Gene

ENSMUSG00000024304

Gene Name

cadherin 2

Synonyms

N-CAD, N-cadherin, Ncad

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9246 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16721934-16942303 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 16781654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 146 (Q146*)

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 null
Transcript: ENSMUST00000025166
AA Change: Q146*

SMART Domains

Protein: ENSMUSP00000025166
Gene: ENSMUSG00000024304
AA Change: Q146*

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 null
Transcript: ENSMUST00000115850
AA Change: Q89*

SMART Domains

Protein: ENSMUSP00000111516
Gene: ENSMUSG00000024304
AA Change: Q89*

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: 99.7%
20x: 98.9%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,279,961 (GRCm39)	T314I	probably benign	Het
Abca7	G	A	10: 79,838,535 (GRCm39)	S603N	probably damaging	Het
Abcc2	T	C	19: 43,786,882 (GRCm39)	F168L	probably benign	Het
Abcc8	T	C	7: 45,774,289 (GRCm39)	T764A	probably benign	Het
Acot4	A	C	12: 84,090,097 (GRCm39)	I265L	probably benign	Het
Adrb2	C	A	18: 62,312,226 (GRCm39)	A200S	probably damaging	Het
Atp2c2	G	T	8: 120,456,989 (GRCm39)	R197L	probably damaging	Het
Bmpr1a	T	C	14: 34,156,664 (GRCm39)	T121A	probably benign	Het
Brwd1	A	T	16: 95,804,016 (GRCm39)	S2051R	probably benign	Het
Card10	T	C	15: 78,673,036 (GRCm39)	E547G	possibly damaging	Het
Cbln1	A	T	8: 88,197,048 (GRCm39)	I139N	probably damaging	Het
Ccdc86	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	CCTCTGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGACAGGGCGATCCGGGGCTCGTCTCCGGCTGAGGTCCGGGAGACGGAAGGCTCAGTGGTGGA	19: 10,926,162 (GRCm39)		probably benign	Het
Cdh16	C	T	8: 105,344,602 (GRCm39)	D510N	probably benign	Het
Cdhr1	T	G	14: 36,801,654 (GRCm39)	K763T	possibly damaging	Het
Cfl1	G	C	19: 5,543,634 (GRCm39)	G204R	probably damaging	Het
Clcn6	A	T	4: 148,113,866 (GRCm39)	V64E	probably benign	Het
Col4a4	G	A	1: 82,430,956 (GRCm39)	P1649S	unknown	Het
Ctnna1	T	A	18: 35,356,562 (GRCm39)	N410K	probably benign	Het
Dhx34	A	G	7: 15,937,162 (GRCm39)	F845S	probably damaging	Het
Dnah7c	T	G	1: 46,571,934 (GRCm39)	N802K	possibly damaging	Het
Dnmt3a	T	C	12: 3,949,204 (GRCm39)	S492P	probably damaging	Het
Fhit	C	A	14: 10,421,494 (GRCm38)		probably null	Het
Fzd2	A	T	11: 102,496,749 (GRCm39)	I398F	possibly damaging	Het
Gm9195	A	G	14: 72,710,314 (GRCm39)	S457P	probably benign	Het
Gnao1	A	G	8: 94,676,967 (GRCm39)	K211E		Het
Gzme	T	C	14: 56,356,198 (GRCm39)	D100G	probably benign	Het
Hook3	T	C	8: 26,562,319 (GRCm39)	T249A	probably benign	Het
Hoxd4	G	A	2: 74,558,747 (GRCm39)	C190Y	possibly damaging	Het
Hr	T	A	14: 70,808,915 (GRCm39)	V1097E	probably damaging	Het
Iqca1l	T	G	5: 24,753,969 (GRCm39)	E430A	probably benign	Het
Kdm3b	A	T	18: 34,941,480 (GRCm39)	K524*	probably null	Het
Kif18a	A	G	2: 109,163,819 (GRCm39)	T723A	probably benign	Het
Kif1a	A	G	1: 93,005,501 (GRCm39)	V91A	probably damaging	Het
Krtap19-2	AAAGCCTCCAAAGCCTCCATAGCCAGAGCCATATCCGAAGCCTCCA	AAAGCCTCCA	16: 88,670,859 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,710,959 (GRCm39)	V1559M	probably damaging	Het
Maco1	A	G	4: 134,565,242 (GRCm39)	V47A	possibly damaging	Het
Msto1	A	T	3: 88,819,411 (GRCm39)	I160N	probably damaging	Het
Muc5ac	C	A	7: 141,364,215 (GRCm39)	Q2509K	probably benign	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nos1	G	C	5: 118,017,402 (GRCm39)	R255P	probably benign	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Or1ad8	T	A	11: 50,897,891 (GRCm39)	F31I	probably damaging	Het
Or2ag2b	C	T	7: 106,417,938 (GRCm39)	T216I	probably benign	Het
Or52ad1	C	T	7: 102,995,908 (GRCm39)	V76I	probably damaging	Het
Or7e170	T	C	9: 19,795,686 (GRCm39)		probably benign	Het
Or8k21	A	T	2: 86,145,222 (GRCm39)	M136K	probably damaging	Het
Pik3c3	C	A	18: 30,466,364 (GRCm39)	A805D	probably damaging	Het
Pnn	A	G	12: 59,116,929 (GRCm39)	Q167R	probably damaging	Het
Pogk	G	T	1: 166,226,380 (GRCm39)	H590Q	probably damaging	Het
Prkcd	A	G	14: 30,327,432 (GRCm39)	L251P	probably damaging	Het
Prrc1	T	A	18: 57,496,208 (GRCm39)	V53E	probably benign	Het
Ripor1	T	C	8: 106,345,522 (GRCm39)	F856S	unknown	Het
Rnf31	G	A	14: 55,833,698 (GRCm39)	A569T	probably benign	Het
Robo1	T	A	16: 72,769,178 (GRCm39)	D532E	probably benign	Het
Sh2d6	T	A	6: 72,497,594 (GRCm39)	K3*	probably null	Het
Slc22a27	T	C	19: 7,874,209 (GRCm39)	T289A	probably benign	Het
Speg	T	C	1: 75,361,498 (GRCm39)	S171P	probably damaging	Het
Stag1	T	A	9: 100,770,329 (GRCm39)	F622I	probably benign	Het
Stxbp1	T	C	2: 32,679,586 (GRCm39)	D589G	possibly damaging	Het
Syne1	T	C	10: 5,255,706 (GRCm39)	I2391M	probably benign	Het
Sytl2	A	G	7: 90,007,384 (GRCm39)	M49V	probably benign	Het
Tmem185b	T	C	1: 119,454,368 (GRCm39)	V43A	probably damaging	Het
Trappc8	A	T	18: 20,993,590 (GRCm39)	M499K	possibly damaging	Het
Vmn1r172	T	A	7: 23,359,593 (GRCm39)	S159R	possibly damaging	Het
Vmn1r62	A	G	7: 5,678,628 (GRCm39)	Y103C	probably damaging	Het
Vmn1r65	C	T	7: 6,011,769 (GRCm39)	C155Y	possibly damaging	Het
Vmn2r112	G	A	17: 22,824,088 (GRCm39)	V448I	probably benign	Het
Zfp592	A	T	7: 80,691,529 (GRCm39)	D1236V	probably benign	Het
Zfp827	T	C	8: 79,803,132 (GRCm39)	V568A	possibly damaging	Het
Zscan4-ps3	A	T	7: 11,346,320 (GRCm39)	I147F	probably damaging	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
R8022:Cdh2	UTSW	18	16,723,358 (GRCm39)	missense	probably damaging	1.00
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
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'- ACGACACAGGAAAGGCTTCTTAC -3'
(R):5'- AAAGGGCCTCCTGAGTTATTC -3'

Sequencing Primer
(F):5'- CAGGAAAGGCTTCTTACTACATAGG -3'
(R):5'- AAGGGCCTCCTGAGTTATTCTTTTTG -3'

Posted On

2022-03-25