Mutagenetix > Incidental Mutation

Incidental Mutation 'R1875:Cdh2'

211190

Institutional Source

Beutler Lab

Gene Symbol

Cdh2

Ensembl Gene

ENSMUSG00000024304

Gene Name

cadherin 2

Synonyms

N-CAD, N-cadherin, Ncad

MMRRC Submission

039897-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1875 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16721934-16942303 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 16757934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 549 (L549F)

Ref Sequence

ENSEMBL: ENSMUSP00000111516 (fasta)

Gene Model

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

AlphaFold

P15116

Predicted Effect

probably benign
Transcript: ENSMUST00000025166
AA Change: L606F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000025166
Gene: ENSMUSG00000024304
AA Change: L606F

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 benign
Transcript: ENSMUST00000115850
AA Change: L549F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111516
Gene: ENSMUSG00000024304
AA Change: L549F

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

Meta Mutation Damage Score

0.0578

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 92.1%

Validation Efficiency

98% (85/87)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	T	7: 119,847,190 (GRCm39)	M685L	possibly damaging	Het
Abi3bp	A	G	16: 56,394,862 (GRCm39)	Y190C	probably damaging	Het
Adam26a	C	A	8: 44,022,888 (GRCm39)	V201L	probably benign	Het
Adamts20	G	T	15: 94,229,277 (GRCm39)	D947E	probably benign	Het
Ankrd26	A	G	6: 118,517,410 (GRCm39)		probably null	Het
Apol11a	C	A	15: 77,397,766 (GRCm39)	T39N	possibly damaging	Het
Arhgef38	T	A	3: 132,839,501 (GRCm39)		probably null	Het
Armh4	T	C	14: 49,919,815 (GRCm39)	D772G	probably damaging	Het
Atp11b	T	C	3: 35,893,296 (GRCm39)	L883P	probably damaging	Het
Btnl10	T	A	11: 58,814,586 (GRCm39)	I422N	probably damaging	Het
C2cd3	A	G	7: 100,056,232 (GRCm39)	K547E	possibly damaging	Het
Celsr3	T	C	9: 108,713,037 (GRCm39)	V1825A	probably benign	Het
Cfap221	T	C	1: 119,881,389 (GRCm39)	I358V	probably benign	Het
Cimap2	G	A	4: 106,470,453 (GRCm39)		probably benign	Het
Csmd1	T	C	8: 15,979,101 (GRCm39)	K2828E	probably damaging	Het
Ddah2	T	C	17: 35,279,821 (GRCm39)	F137S	probably damaging	Het
Ddx21	A	G	10: 62,429,847 (GRCm39)	I299T	probably damaging	Het
Dnah7a	A	T	1: 53,495,691 (GRCm39)		probably benign	Het
Elmod1	A	G	9: 53,843,151 (GRCm39)	I9T	probably benign	Het
Epha2	A	G	4: 141,036,290 (GRCm39)	E242G	probably benign	Het
Erbb3	T	C	10: 128,410,335 (GRCm39)	H641R	possibly damaging	Het
Fbxl18	G	A	5: 142,871,978 (GRCm39)	A419V	probably damaging	Het
Fli1	T	C	9: 32,335,209 (GRCm39)	M408V	probably benign	Het
Fmo4	T	C	1: 162,631,187 (GRCm39)	N260S	possibly damaging	Het
Fry	A	G	5: 150,249,597 (GRCm39)	E136G	probably damaging	Het
Gm10477	T	A	X: 55,570,127 (GRCm39)	F9Y	probably damaging	Het
Gm8258	A	G	5: 104,924,320 (GRCm39)		noncoding transcript	Het
Gpr68	T	A	12: 100,845,049 (GRCm39)	D165V	probably damaging	Het
Htt	T	A	5: 34,951,456 (GRCm39)	M139K	probably benign	Het
Jup	A	G	11: 100,263,120 (GRCm39)		probably null	Het
Kifc5b	G	A	17: 27,136,264 (GRCm39)		probably null	Het
Krba1	T	A	6: 48,390,983 (GRCm39)		probably null	Het
Lamp1	G	A	8: 13,217,257 (GRCm39)	G89R	probably damaging	Het
Lrrc17	C	T	5: 21,765,650 (GRCm39)	S44F	possibly damaging	Het
Mdga1	T	C	17: 30,071,581 (GRCm39)	T347A	probably damaging	Het
Mical3	A	T	6: 121,019,025 (GRCm39)	W66R	probably damaging	Het
Mpl	A	G	4: 118,314,026 (GRCm39)	Y73H	probably benign	Het
Mterf1b	T	A	5: 4,247,364 (GRCm39)	I335N	possibly damaging	Het
Mylk3	A	G	8: 86,079,494 (GRCm39)	I388T	probably damaging	Het
Myo15a	C	T	11: 60,398,354 (GRCm39)	R2775W	probably damaging	Het
Myoz2	A	T	3: 122,819,765 (GRCm39)	S65T	probably damaging	Het
Ndrg1	T	C	15: 66,802,940 (GRCm39)	T137A	possibly damaging	Het
Neil3	G	T	8: 54,052,454 (GRCm39)	N381K	probably damaging	Het
Obsl1	T	C	1: 75,474,877 (GRCm39)	Y841C	probably damaging	Het
Or2b4	A	G	17: 38,115,996 (GRCm39)		probably benign	Het
Or6b6	G	A	7: 106,571,389 (GRCm39)	S54F	possibly damaging	Het
Otogl	T	C	10: 107,735,451 (GRCm39)	D111G	probably damaging	Het
Parp10	T	C	15: 76,127,051 (GRCm39)	E103G	probably damaging	Het
Pars2	T	C	4: 106,510,913 (GRCm39)	F232L	possibly damaging	Het
Pcdh18	A	T	3: 49,709,154 (GRCm39)	F720L	probably damaging	Het
Phf3	T	C	1: 30,869,704 (GRCm39)	E448G	possibly damaging	Het
Pigc	A	G	1: 161,798,516 (GRCm39)	Y166C	probably damaging	Het
Pik3c2a	A	T	7: 116,017,206 (GRCm39)	S184T	probably benign	Het
Pkd1l1	A	G	11: 8,794,670 (GRCm39)		probably benign	Het
Plch2	G	A	4: 155,082,965 (GRCm39)	S485F	probably damaging	Het
Plxnd1	G	T	6: 115,955,045 (GRCm39)		probably null	Het
Pnliprp2	G	T	19: 58,751,821 (GRCm39)	V189L	probably benign	Het
Prl8a2	T	C	13: 27,535,037 (GRCm39)	V103A	probably benign	Het
Psg23	G	A	7: 18,344,375 (GRCm39)	T360I	probably benign	Het
Rad51c	A	T	11: 87,279,469 (GRCm39)	I323N	probably damaging	Het
Rsbn1l	C	T	5: 21,156,696 (GRCm39)	E30K	probably benign	Het
Serpina3c	C	A	12: 104,118,145 (GRCm39)	L64F	probably damaging	Het
Shroom1	A	G	11: 53,356,502 (GRCm39)	D392G	probably damaging	Het
Slc26a5	T	A	5: 22,020,725 (GRCm39)	I540L	probably benign	Het
Slc37a4	A	G	9: 44,312,808 (GRCm39)	T321A	probably damaging	Het
Slc41a2	A	G	10: 83,091,949 (GRCm39)	L438S	probably damaging	Het
Spef2	C	T	15: 9,584,194 (GRCm39)	E1624K	probably damaging	Het
Spef2	C	T	15: 9,597,487 (GRCm39)	G1390R	possibly damaging	Het
Spmap2l	A	T	5: 77,202,431 (GRCm39)	K284M	probably benign	Het
Synj2	G	T	17: 6,078,825 (GRCm39)	A740S	possibly damaging	Het
Tigd4	A	C	3: 84,502,394 (GRCm39)	D437A	probably benign	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem106a	CAGCTCAACACGACGGTA	CAGCTCAACACGACGGTAAGCTCAACACGACGGTA	11: 101,477,204 (GRCm39)		probably benign	Het
Tmem131l	A	T	3: 83,812,383 (GRCm39)	C1313*	probably null	Het
Tmem86b	A	T	7: 4,632,698 (GRCm39)	I47N	possibly damaging	Het
Tspan13	T	C	12: 36,070,550 (GRCm39)		probably null	Het
Vps54	A	G	11: 21,250,251 (GRCm39)	T396A	probably benign	Het
Zfp106	A	T	2: 120,344,096 (GRCm39)		probably null	Het
Zfp668	T	C	7: 127,465,654 (GRCm39)		probably null	Het
Zfp809	A	T	9: 22,150,027 (GRCm39)	R175*	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
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
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'- ACCTGCTCTTACCATTAAGCCG -3'
(R):5'- TTGCTCTGAAAACCATCCACTC -3'

Sequencing Primer
(F):5'- CCATTAAGCCGGTTGATGGTCC -3'
(R):5'- TAGGAATCCCGCCTATGA -3'

Posted On

2014-06-30