Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03245:Cdh3'

414382

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh3

Ensembl Gene

ENSMUSG00000061048

Gene Name

cadherin 3

Synonyms

P-cadherin, Cadp, Pcad

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL03245

Quality Score

Status

Chromosome

Chromosomal Location

107237484-107283543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107279631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 749 (N749S)

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: N749S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048
AA Change: N749S

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

Validation Efficiency

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	C	T	7: 75,259,500 (GRCm39)	A708V	probably damaging	Het
Col3a1	G	A	1: 45,370,269 (GRCm39)		probably benign	Het
Csmd2	T	A	4: 128,402,915 (GRCm39)	S2334R	probably benign	Het
Cubn	T	C	2: 13,360,500 (GRCm39)	T1741A	probably benign	Het
Cuedc1	T	C	11: 88,068,088 (GRCm39)		probably benign	Het
Cutc	T	C	19: 43,756,621 (GRCm39)	S228P	possibly damaging	Het
Dnmt1	G	T	9: 20,827,056 (GRCm39)	N1013K	probably damaging	Het
Dst	G	T	1: 34,250,229 (GRCm39)		probably null	Het
Lamc2	A	T	1: 153,009,503 (GRCm39)		probably null	Het
Mettl25	T	C	10: 105,662,358 (GRCm39)	N204S	possibly damaging	Het
Micall2	G	A	5: 139,705,014 (GRCm39)	H107Y	probably damaging	Het
Or5d16	T	A	2: 87,773,086 (GRCm39)	R295S	possibly damaging	Het
Or8g28	T	A	9: 39,169,294 (GRCm39)	I225F	probably damaging	Het
Or9a7	A	G	6: 40,521,076 (GRCm39)	V279A	probably damaging	Het
Ptger4	A	T	15: 5,264,588 (GRCm39)	I331N	probably damaging	Het
Rad54l2	A	G	9: 106,580,827 (GRCm39)	F898S	probably damaging	Het
Smr2	A	G	5: 88,256,709 (GRCm39)	N129S	probably benign	Het
Tmeff2	T	C	1: 51,220,976 (GRCm39)	F317S	probably benign	Het
Trpm6	A	T	19: 18,855,065 (GRCm39)	E1908V	probably damaging	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Xpo7	T	A	14: 70,925,734 (GRCm39)	D436V	probably damaging	Het
Zfp804b	C	A	5: 6,822,253 (GRCm39)	S234I	possibly damaging	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
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
R7522:Cdh3	UTSW	8	107,268,005 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02