Mutagenetix > Incidental Mutation

Incidental Mutation 'R5069:Cdh3'

388552

Institutional Source

Beutler Lab

Gene Symbol

Cdh3

Ensembl Gene

ENSMUSG00000061048

Gene Name

cadherin 3

Synonyms

P-cadherin, Cadp, Pcad

MMRRC Submission

042659-MU

Accession Numbers

Essential gene?

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

Stock #

R5069 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107237484-107283543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107263458 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 126 (N126S)

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 benign
Transcript: ENSMUST00000080797
AA Change: N126S

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048
AA Change: N126S

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: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.5%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,383,749 (GRCm39)	S739P	possibly damaging	Het
AAdacl4fm3	T	A	4: 144,430,437 (GRCm39)	D184V	probably damaging	Het
Actn2	A	G	13: 12,303,408 (GRCm39)	I464T	possibly damaging	Het
Adcy7	T	C	8: 89,054,325 (GRCm39)	L1060P	probably damaging	Het
Aff3	A	G	1: 38,220,694 (GRCm39)		probably null	Het
Ankar	T	C	1: 72,719,369 (GRCm39)		probably null	Het
Ankrd27	A	T	7: 35,327,860 (GRCm39)	K793N	probably damaging	Het
Arhgef28	T	C	13: 98,211,714 (GRCm39)	T90A	probably damaging	Het
Armc9	A	T	1: 86,184,959 (GRCm39)	H670L	probably benign	Het
Arvcf	A	G	16: 18,217,736 (GRCm39)	Y412C	probably damaging	Het
Ass1	C	T	2: 31,400,185 (GRCm39)	T301M	probably damaging	Het
Baiap3	A	T	17: 25,468,082 (GRCm39)	C283S	probably damaging	Het
Birc6	C	T	17: 74,872,967 (GRCm39)	R409C	probably damaging	Het
Calcoco1	A	G	15: 102,619,527 (GRCm39)	L354P	probably damaging	Het
Cfap54	A	C	10: 92,773,636 (GRCm39)	F135L	probably benign	Het
Dlg1	G	T	16: 31,503,113 (GRCm39)		probably null	Het
Dnah3	T	C	7: 119,632,013 (GRCm39)	H1314R	probably benign	Het
Dsp	A	C	13: 38,381,099 (GRCm39)	T2615P	possibly damaging	Het
Elapor2	T	A	5: 9,490,897 (GRCm39)	C636S	probably damaging	Het
Enpp2	T	C	15: 54,727,450 (GRCm39)	Y513C	probably damaging	Het
Ercc6	T	C	14: 32,292,020 (GRCm39)	V1128A	probably benign	Het
Firrm	T	C	1: 163,815,243 (GRCm39)	T93A	possibly damaging	Het
Gipc2	A	G	3: 151,799,885 (GRCm39)	F282L	probably benign	Het
Gm1043	T	G	5: 37,344,580 (GRCm39)	L231R	probably damaging	Het
Gpr153	T	A	4: 152,364,340 (GRCm39)	M132K	probably damaging	Het
Hbs1l	T	A	10: 21,230,546 (GRCm39)	S496T	probably damaging	Het
Inpp5f	A	G	7: 128,278,451 (GRCm39)		probably null	Het
Kat6a	G	A	8: 23,393,149 (GRCm39)	C209Y	probably damaging	Het
Kcna2	T	A	3: 107,011,953 (GRCm39)	V178D	probably damaging	Het
Krt75	A	G	15: 101,474,673 (GRCm39)		probably null	Het
Letm2	G	A	8: 26,083,980 (GRCm39)	Q84*	probably null	Het
Mib1	A	G	18: 10,793,002 (GRCm39)	E646G	probably damaging	Het
Mmp14	T	A	14: 54,676,570 (GRCm39)	Y372N	probably damaging	Het
Muc6	A	G	7: 141,237,564 (GRCm39)	C218R	probably damaging	Het
Myof	A	T	19: 37,893,773 (GRCm39)	I1130N	possibly damaging	Het
Neil3	A	G	8: 54,054,076 (GRCm39)	S318P	possibly damaging	Het
Nhlh1	A	G	1: 171,881,467 (GRCm39)	V133A	probably benign	Het
Nup153	A	C	13: 46,863,268 (GRCm39)	S331A	probably benign	Het
Nup98	T	C	7: 101,794,862 (GRCm39)	T882A	probably benign	Het
Or11g2	T	A	14: 50,856,197 (GRCm39)	C173S	probably damaging	Het
Or11h4	C	A	14: 50,974,531 (GRCm39)	L29F	probably benign	Het
Or52ab4	A	T	7: 102,987,229 (GRCm39)		probably null	Het
Or9s23	T	A	1: 92,501,135 (GRCm39)	S81T	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pald1	A	T	10: 61,177,025 (GRCm39)	M675K	possibly damaging	Het
Pex5	A	G	6: 124,390,555 (GRCm39)	S97P	probably benign	Het
Pitpnm1	C	T	19: 4,161,140 (GRCm39)	A897V	probably benign	Het
Plxnd1	A	T	6: 115,942,862 (GRCm39)	V1274E	probably damaging	Het
Polr2a	T	C	11: 69,627,561 (GRCm39)		probably null	Het
Ppfia1	G	A	7: 144,068,210 (GRCm39)	Q446*	probably null	Het
Psma2	G	A	13: 14,790,613 (GRCm39)	V20I	probably benign	Het
Pwwp4a	T	C	X: 72,171,577 (GRCm39)	I323T	probably damaging	Het
Rhbdl2	T	A	4: 123,711,710 (GRCm39)	L149*	probably null	Het
Rnf17	T	C	14: 56,743,385 (GRCm39)	V1317A	probably damaging	Het
Rtel1	G	A	2: 180,997,285 (GRCm39)	V1042M	probably benign	Het
Sidt2	A	T	9: 45,850,759 (GRCm39)		probably null	Het
Slc11a1	G	A	1: 74,424,343 (GRCm39)	A434T	probably damaging	Het
Slc28a2b	A	T	2: 122,324,854 (GRCm39)	N142I	possibly damaging	Het
Slc4a10	G	A	2: 62,097,915 (GRCm39)	R508H	probably benign	Het
Slc5a8	A	T	10: 88,722,460 (GRCm39)	I98F	possibly damaging	Het
Slf2	T	A	19: 44,923,692 (GRCm39)	S169T	possibly damaging	Het
Snx33	A	T	9: 56,833,475 (GRCm39)	I198N	probably damaging	Het
Spock3	A	G	8: 63,808,299 (GRCm39)	T396A	probably benign	Het
Sva	A	T	6: 42,015,351 (GRCm39)		probably benign	Het
Syt7	A	G	19: 10,416,601 (GRCm39)	N261S	probably benign	Het
Taar7b	T	G	10: 23,876,359 (GRCm39)	S175A	probably benign	Het
Thoc2	C	T	X: 40,895,570 (GRCm39)	E1491K	probably damaging	Het
Tlr1	T	C	5: 65,083,743 (GRCm39)	Y278C	probably benign	Het
Tph2	T	A	10: 114,987,079 (GRCm39)	Y237F	probably benign	Het
Trim35	C	T	14: 66,546,421 (GRCm39)		probably benign	Het
Trpm4	T	G	7: 44,959,893 (GRCm39)	Y667S	probably damaging	Het
Ttc27	T	A	17: 75,106,337 (GRCm39)	H541Q	probably damaging	Het
Ube4a	T	C	9: 44,851,387 (GRCm39)	H709R	probably damaging	Het
Vwa7	G	A	17: 35,243,166 (GRCm39)	V615I	probably benign	Het
Wars2	A	G	3: 99,094,849 (GRCm39)	H48R	probably damaging	Het
Xlr4c	T	A	X: 72,282,290 (GRCm39)	K121M	probably damaging	Het
Zfc3h1	T	A	10: 115,254,688 (GRCm39)	C1427*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCGCATCTTAAGGAGACGAAAG -3'
(R):5'- GTCTACACTGGGAGCTAAAGG -3'

Sequencing Primer
(F):5'- TATTCGTCCCCGAGAATGGCAAG -3'
(R):5'- GCTAAAGGCTATTTACCTCGTACTTG -3'

Posted On

2016-06-06