Mutagenetix > Incidental Mutation

Incidental Mutation 'R7522:Cdh3'

582725

Institutional Source

Beutler Lab

Gene Symbol

Cdh3

Ensembl Gene

ENSMUSG00000061048

Gene Name

cadherin 3

Synonyms

P-cadherin, Cadp, Pcad

MMRRC Submission

045594-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R7522 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107237484-107283543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 107268005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 347 (D347N)

Ref Sequence

ENSEMBL: ENSMUSP00000079613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080797]

AlphaFold

P10287

PDB Structure

Crystal structure of mouse P-cadherin extracellular domains EC1-EC2 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000080797
AA Change: D347N

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

SMART Domains

Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048
AA Change: D347N

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
CA	122	205	7.57e-11	SMART
CA	229	318	1.68e-26	SMART
CA	341	431	4.21e-18	SMART
CA	454	538	1.28e-22	SMART
Pfam:Cadherin_C	673	818	3.9e-46	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: This gene encodes a calcium-dependent cell-cell adhesion protein containing five cadherin domains. The encoded protein plays a role in epithelial outgrowth, such as that which occurs during the development of hair follicles and limb buds. Loss of function of the related gene in humans results in ectodermal dysplasia, ectrodactyly, and macular dystrophy and congential hypotrichosis with juvenile macular dystrophy. This gene is located in the vicinity of similar cadherin genes on chromosome 8. The proprotein is further cleaved into a functional chain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]
PHENOTYPE: Homozygous mutation of this gene results in precocious development of mammary glands in virgin 10-week old females. Aged virgin females (24 weeks) exhibit alveolar hyperplasia, ductal dysplasia, and extensive lymphocyte infiltration of the mammary glands. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030014E15Rik	G	T	1: 82,902,949 (GRCm39)	C82F	unknown	Het
Adam21	G	C	12: 81,605,722 (GRCm39)	T680R	possibly damaging	Het
Adgrf4	A	C	17: 42,980,675 (GRCm39)	Y137D	probably benign	Het
Ago3	T	C	4: 126,257,600 (GRCm39)	K477R	probably benign	Het
Ahnak	T	A	19: 8,979,686 (GRCm39)	D323E	probably benign	Het
Amph	A	G	13: 19,270,715 (GRCm39)	D108G	probably damaging	Het
Ankrd10	A	T	8: 11,682,910 (GRCm39)	C106S	probably damaging	Het
Bmp5	A	T	9: 75,683,384 (GRCm39)	T4S	probably benign	Het
Brix1	G	A	15: 10,476,676 (GRCm39)	R267C	probably damaging	Het
Calcrl	G	A	2: 84,203,708 (GRCm39)	S24L	probably benign	Het
Ccdc40	T	G	11: 119,123,047 (GRCm39)	I213R	possibly damaging	Het
Cd300lg	A	G	11: 101,945,028 (GRCm39)	I413V	probably benign	Het
Clcn3	T	C	8: 61,394,446 (GRCm39)	T55A	probably benign	Het
Cnga4	A	G	7: 105,055,195 (GRCm39)	T260A	probably damaging	Het
Cpne8	G	T	15: 90,486,022 (GRCm39)	P147Q	probably benign	Het
Cpsf6	A	G	10: 117,203,734 (GRCm39)	Y74H	unknown	Het
Cryl1	A	T	14: 57,513,428 (GRCm39)	S264R	probably benign	Het
Cyp39a1	C	T	17: 43,978,370 (GRCm39)		probably benign	Het
Cyp4f39	T	C	17: 32,705,946 (GRCm39)	S346P	probably damaging	Het
Cyria	A	G	12: 12,408,057 (GRCm39)	T28A	possibly damaging	Het
Ddhd1	G	A	14: 45,895,104 (GRCm39)	A122V	possibly damaging	Het
Dnmt1	C	A	9: 20,831,498 (GRCm39)	C662F	probably damaging	Het
E2f6	G	A	12: 16,872,125 (GRCm39)	G190S	probably benign	Het
Esp34	A	T	17: 38,870,432 (GRCm39)	I109F	possibly damaging	Het
Espl1	A	T	15: 102,213,486 (GRCm39)	D604V	probably damaging	Het
Exo1	T	C	1: 175,728,870 (GRCm39)	C645R	probably benign	Het
Fah	A	G	7: 84,246,282 (GRCm39)	V189A	probably benign	Het
Fam184b	A	C	5: 45,688,093 (GRCm39)	Y939D	probably damaging	Het
Fchsd2	T	A	7: 100,908,829 (GRCm39)	L410*	probably null	Het
Gak	A	T	5: 108,739,065 (GRCm39)	I665N	possibly damaging	Het
Galnt9	A	G	5: 110,743,705 (GRCm39)		probably null	Het
Gcg	T	C	2: 62,306,103 (GRCm39)	R165G	probably benign	Het
Hexd	T	C	11: 121,108,923 (GRCm39)	V214A	possibly damaging	Het
Hoxb3	A	T	11: 96,235,507 (GRCm39)	S145C	probably damaging	Het
Il18	A	G	9: 50,486,640 (GRCm39)	Y23C	probably damaging	Het
Itgav	A	T	2: 83,632,373 (GRCm39)	I954F	probably benign	Het
Kcna4	A	G	2: 107,126,600 (GRCm39)	R445G	probably damaging	Het
Kyat3	T	A	3: 142,440,305 (GRCm39)	L343Q	probably damaging	Het
Lgals4	A	T	7: 28,537,117 (GRCm39)	D139V	possibly damaging	Het
Lrp3	C	T	7: 34,903,755 (GRCm39)	G197D	probably damaging	Het
Lyst	T	A	13: 13,821,668 (GRCm39)	C1347*	probably null	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Map3k4	T	C	17: 12,480,219 (GRCm39)	Q661R	probably benign	Het
Marcks	A	C	10: 37,012,577 (GRCm39)	F153V	unknown	Het
Mocs1	T	C	17: 49,742,292 (GRCm39)		probably null	Het
Naa60	A	G	16: 3,719,768 (GRCm39)	T232A	probably benign	Het
Oosp1	A	T	19: 11,666,065 (GRCm39)	I75N	probably benign	Het
Opn3	A	G	1: 175,493,189 (GRCm39)	V125A	probably benign	Het
Or2ag18	A	G	7: 106,404,994 (GRCm39)	V225A	probably damaging	Het
Or2f1	T	A	6: 42,721,568 (GRCm39)	I199N	probably damaging	Het
Or4c102	A	G	2: 88,423,005 (GRCm39)	T286A	possibly damaging	Het
Or7g27	T	A	9: 19,250,294 (GRCm39)	C179*	probably null	Het
Palb2	T	C	7: 121,712,501 (GRCm39)	T947A	probably damaging	Het
Pde5a	C	T	3: 122,634,648 (GRCm39)	R730*	probably null	Het
Plcl1	T	C	1: 55,735,523 (GRCm39)	I288T	probably benign	Het
Plxnb2	A	G	15: 89,045,977 (GRCm39)	I966T	probably benign	Het
Prkcz	T	C	4: 155,355,742 (GRCm39)	E400G	probably damaging	Het
Prpf8	A	G	11: 75,400,102 (GRCm39)	D2332G	possibly damaging	Het
Ptgds	T	G	2: 25,357,920 (GRCm39)	T154P	probably benign	Het
Rel	T	C	11: 23,720,676 (GRCm39)		probably null	Het
Rxylt1	A	G	10: 121,917,344 (GRCm39)	W390R	probably damaging	Het
Serpinb1c	T	A	13: 33,066,200 (GRCm39)	K248N	probably benign	Het
Shkbp1	A	C	7: 27,046,583 (GRCm39)	W394G	possibly damaging	Het
Slc47a2	A	G	11: 61,193,076 (GRCm39)	V559A	probably benign	Het
Sox6	A	T	7: 115,400,813 (GRCm39)	F10I	probably damaging	Het
Stkld1	T	C	2: 26,837,259 (GRCm39)	V303A	probably benign	Het
Styk1	T	A	6: 131,289,803 (GRCm39)		probably null	Het
Tet1	T	C	10: 62,654,762 (GRCm39)	T1574A	possibly damaging	Het
Tkt	A	T	14: 30,290,180 (GRCm39)	I270F	possibly damaging	Het
Trak1	A	G	9: 121,271,777 (GRCm39)	E166G	probably damaging	Het
Tsc2	A	T	17: 24,849,939 (GRCm39)	I58N	probably damaging	Het
Uhmk1	T	A	1: 170,042,809 (GRCm39)	M1L	probably benign	Het
Usp50	T	C	2: 126,625,146 (GRCm39)	Y21C	probably damaging	Het
Vmn1r180	C	G	7: 23,652,685 (GRCm39)	P283A	probably damaging	Het
Vmn1r83	A	G	7: 12,055,505 (GRCm39)	M184T	possibly damaging	Het
Vmn2r109	A	G	17: 20,774,665 (GRCm39)	I230T	probably benign	Het

Other mutations in Cdh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Cdh3	APN	8	107,281,937 (GRCm39)	missense	probably damaging	1.00
IGL01431:Cdh3	APN	8	107,274,301 (GRCm39)	missense	probably damaging	1.00
IGL01466:Cdh3	APN	8	107,263,227 (GRCm39)	missense	possibly damaging	0.62
IGL01794:Cdh3	APN	8	107,263,758 (GRCm39)	missense	possibly damaging	0.78
IGL02100:Cdh3	APN	8	107,270,322 (GRCm39)	missense	probably benign
IGL02272:Cdh3	APN	8	107,274,468 (GRCm39)	splice site	probably null
IGL02292:Cdh3	APN	8	107,271,833 (GRCm39)	missense	probably damaging	0.99
IGL02553:Cdh3	APN	8	107,270,880 (GRCm39)	nonsense	probably null
IGL03245:Cdh3	APN	8	107,279,631 (GRCm39)	missense	probably damaging	1.00
IGL03376:Cdh3	APN	8	107,268,036 (GRCm39)	missense	probably benign	0.01
Arctus	UTSW	8	107,266,488 (GRCm39)	missense	probably damaging	1.00
Bebe	UTSW	8	107,271,860 (GRCm39)	critical splice donor site	probably null
Byte	UTSW	8	107,237,973 (GRCm39)	missense	probably benign
puffin	UTSW	8	107,270,458 (GRCm39)	missense	probably damaging	0.98
R7512_Cdh3_158	UTSW	8	107,265,640 (GRCm39)	nonsense	probably null
PIT4486001:Cdh3	UTSW	8	107,268,122 (GRCm39)	missense	possibly damaging	0.89
R0143:Cdh3	UTSW	8	107,237,857 (GRCm39)	missense	probably benign	0.35
R0388:Cdh3	UTSW	8	107,265,761 (GRCm39)	missense	probably damaging	1.00
R0462:Cdh3	UTSW	8	107,282,012 (GRCm39)	missense	possibly damaging	0.65
R0526:Cdh3	UTSW	8	107,282,078 (GRCm39)	missense	possibly damaging	0.69
R0788:Cdh3	UTSW	8	107,268,047 (GRCm39)	missense	probably benign	0.05
R1495:Cdh3	UTSW	8	107,265,629 (GRCm39)	missense	probably damaging	1.00
R1653:Cdh3	UTSW	8	107,265,700 (GRCm39)	missense	probably damaging	1.00
R1806:Cdh3	UTSW	8	107,263,547 (GRCm39)	missense	probably benign	0.02
R2124:Cdh3	UTSW	8	107,279,520 (GRCm39)	missense	probably damaging	1.00
R2302:Cdh3	UTSW	8	107,271,701 (GRCm39)	missense	probably damaging	1.00
R2326:Cdh3	UTSW	8	107,237,940 (GRCm39)	missense	probably benign
R2508:Cdh3	UTSW	8	107,279,039 (GRCm39)	missense	probably damaging	1.00
R3625:Cdh3	UTSW	8	107,270,310 (GRCm39)	missense	probably damaging	0.98
R3767:Cdh3	UTSW	8	107,263,606 (GRCm39)	splice site	probably null
R4679:Cdh3	UTSW	8	107,266,488 (GRCm39)	missense	probably damaging	1.00
R4716:Cdh3	UTSW	8	107,270,520 (GRCm39)	missense	probably benign
R4778:Cdh3	UTSW	8	107,270,458 (GRCm39)	missense	probably damaging	0.98
R4928:Cdh3	UTSW	8	107,263,242 (GRCm39)	missense	probably benign	0.15
R5069:Cdh3	UTSW	8	107,263,458 (GRCm39)	missense	probably benign	0.19
R5101:Cdh3	UTSW	8	107,268,024 (GRCm39)	missense	possibly damaging	0.60
R5204:Cdh3	UTSW	8	107,270,871 (GRCm39)	missense	probably benign	0.29
R5309:Cdh3	UTSW	8	107,265,652 (GRCm39)	missense	probably damaging	0.98
R5343:Cdh3	UTSW	8	107,279,568 (GRCm39)	missense	probably benign
R5408:Cdh3	UTSW	8	107,263,269 (GRCm39)	missense	probably damaging	0.98
R6253:Cdh3	UTSW	8	107,263,695 (GRCm39)	splice site	probably null
R6637:Cdh3	UTSW	8	107,237,973 (GRCm39)	missense	probably benign
R6639:Cdh3	UTSW	8	107,237,973 (GRCm39)	missense	probably benign
R7142:Cdh3	UTSW	8	107,271,860 (GRCm39)	critical splice donor site	probably null
R7371:Cdh3	UTSW	8	107,279,109 (GRCm39)	missense	probably damaging	1.00
R7397:Cdh3	UTSW	8	107,263,241 (GRCm39)	nonsense	probably null
R7458:Cdh3	UTSW	8	107,263,779 (GRCm39)	missense	probably damaging	1.00
R7512:Cdh3	UTSW	8	107,265,640 (GRCm39)	nonsense	probably null
R7586:Cdh3	UTSW	8	107,237,975 (GRCm39)	critical splice donor site	probably null
R9467:Cdh3	UTSW	8	107,266,425 (GRCm39)	critical splice acceptor site	probably null
R9680:Cdh3	UTSW	8	107,274,396 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAAAAGTCCAGACATGTGAGC -3'
(R):5'- TACCAGGAGCCACTGTCTTG -3'

Sequencing Primer
(F):5'- ACATGTGAGCAGGCCAC -3'
(R):5'- AGCCACTGTCTTGGTGCAGTC -3'

Posted On

2019-10-17