Mutagenetix > Incidental Mutation

Incidental Mutation 'R1806:Cdh3'

203471

Institutional Source

Beutler Lab

Gene Symbol

Cdh3

Ensembl Gene

ENSMUSG00000061048

Gene Name

cadherin 3

Synonyms

P-cadherin, Cadp, Pcad

MMRRC Submission

039835-MU

Accession Numbers

Essential gene?

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

Stock #

R1806 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

107237484-107283543 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107263547 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 156 (S156P)

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: S156P

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048
AA Change: S156P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.9%
20x: 91.2%

Validation Efficiency

96% (77/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,784,571 (GRCm39)	L348P	probably damaging	Het
Adamts15	C	A	9: 30,816,111 (GRCm39)	C616F	probably damaging	Het
Adarb1	T	C	10: 77,158,099 (GRCm39)	N116S	probably damaging	Het
Add2	C	T	6: 86,095,639 (GRCm39)	S437L	probably damaging	Het
Adra1d	T	A	2: 131,388,069 (GRCm39)	R495S	probably benign	Het
Agk	C	T	6: 40,364,429 (GRCm39)	T309I	probably damaging	Het
Aqr	T	C	2: 113,992,133 (GRCm39)	Y81C	probably damaging	Het
Bak1	G	A	17: 27,240,242 (GRCm39)	Q142*	probably null	Het
Bckdha	A	G	7: 25,330,845 (GRCm39)	V307A	probably damaging	Het
Camk2n2	C	A	16: 20,438,948 (GRCm39)	G72V	probably benign	Het
Cd276	A	T	9: 58,434,845 (GRCm39)		probably benign	Het
Cd2ap	G	A	17: 43,149,649 (GRCm39)	Q122*	probably null	Het
Cdan1	T	A	2: 120,561,907 (GRCm39)		probably benign	Het
Chil4	T	A	3: 106,117,959 (GRCm39)		probably benign	Het
Col11a1	C	T	3: 113,951,791 (GRCm39)	R1074C	probably damaging	Het
Depp1	G	A	6: 116,628,683 (GRCm39)	V9M	possibly damaging	Het
Fcrlb	T	C	1: 170,735,096 (GRCm39)	T344A	probably benign	Het
Fras1	T	A	5: 96,861,829 (GRCm39)		probably benign	Het
Fras1	G	T	5: 96,912,835 (GRCm39)	V3380F	possibly damaging	Het
Galnt9	A	G	5: 110,767,119 (GRCm39)	D530G	possibly damaging	Het
Gja10	A	T	4: 32,601,135 (GRCm39)	S416R	probably benign	Het
Gm10549	T	A	18: 33,603,841 (GRCm39)	V108E	unknown	Het
Hook3	A	T	8: 26,558,687 (GRCm39)	L59Q	probably damaging	Het
Hpf1	T	A	8: 61,353,154 (GRCm39)	D178E	probably benign	Het
Hsd17b7	T	C	1: 169,788,698 (GRCm39)	N173S	possibly damaging	Het
Hsph1	A	G	5: 149,553,454 (GRCm39)	F236L	probably damaging	Het
Kcnk12	G	T	17: 88,053,537 (GRCm39)	T375K	probably benign	Het
Klra3	A	T	6: 130,304,033 (GRCm39)	S220T	probably damaging	Het
Lhx1	A	T	11: 84,414,967 (GRCm39)	L12Q	probably damaging	Het
Lnx1	A	G	5: 74,766,710 (GRCm39)	L468P	probably damaging	Het
Ltbp3	T	A	19: 5,803,970 (GRCm39)	C827*	probably null	Het
Mical1	C	T	10: 41,354,210 (GRCm39)	A53V	probably damaging	Het
Mmp10	A	T	9: 7,506,502 (GRCm39)	H326L	probably benign	Het
Mpl	A	T	4: 118,300,729 (GRCm39)	M600K	possibly damaging	Het
Muc5b	T	A	7: 141,419,230 (GRCm39)	D4004E	possibly damaging	Het
Myo5b	A	T	18: 74,710,680 (GRCm39)	H98L	possibly damaging	Het
Nbeal1	A	G	1: 60,323,251 (GRCm39)	T2110A	probably damaging	Het
Nedd4l	C	A	18: 65,345,862 (GRCm39)	R825S	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Or4k35	A	T	2: 111,100,622 (GRCm39)	I30N	possibly damaging	Het
Or52e19	T	A	7: 102,959,432 (GRCm39)	L168Q	probably damaging	Het
Or8k41	A	T	2: 86,313,483 (GRCm39)	I201N	probably damaging	Het
Otog	A	T	7: 45,940,361 (GRCm39)		probably null	Het
Parp2	T	A	14: 51,056,836 (GRCm39)	L320H	probably damaging	Het
Poglut3	T	C	9: 53,307,150 (GRCm39)	Y365H	probably damaging	Het
Pola2	C	T	19: 5,993,250 (GRCm39)		probably null	Het
Poln	A	T	5: 34,264,494 (GRCm39)		probably benign	Het
Pomt1	T	A	2: 32,131,680 (GRCm39)	V123E	probably damaging	Het
Prom2	T	C	2: 127,374,802 (GRCm39)	Y578C	probably damaging	Het
Prss23	T	C	7: 89,159,599 (GRCm39)	T157A	probably damaging	Het
Sdk1	T	A	5: 141,598,950 (GRCm39)	V205E	probably damaging	Het
Sdk1	A	G	5: 142,147,681 (GRCm39)	K1771R	probably benign	Het
Sidt1	A	T	16: 44,102,234 (GRCm39)	S309T	possibly damaging	Het
Sirpa	T	A	2: 129,457,432 (GRCm39)	F169I	probably damaging	Het
Slc8a1	T	C	17: 81,955,916 (GRCm39)	N374S	probably damaging	Het
Sp110	C	T	1: 85,523,831 (GRCm39)		probably null	Het
Stard9	A	G	2: 120,509,934 (GRCm39)		probably null	Het
Synpr	A	G	14: 13,563,082 (GRCm38)	N105S	probably damaging	Het
Tbc1d16	T	C	11: 119,046,927 (GRCm39)	Y440C	probably damaging	Het
Trabd	A	G	15: 88,969,824 (GRCm39)	I313V	possibly damaging	Het
Trappc10	T	C	10: 78,046,610 (GRCm39)	R430G	probably damaging	Het
Trim50	A	G	5: 135,387,743 (GRCm39)	E145G	probably benign	Het
Uba2	A	T	7: 33,862,624 (GRCm39)	F105I	probably damaging	Het
Uba3	A	G	6: 97,176,230 (GRCm39)	V92A	possibly damaging	Het
Uhmk1	T	C	1: 170,038,628 (GRCm39)	K153R	probably damaging	Het
Vmn2r3	T	C	3: 64,194,810 (GRCm39)	K8R	possibly damaging	Het
Vmn2r3	T	A	3: 64,182,893 (GRCm39)	M269L	probably benign	Het
Xpot	G	T	10: 121,443,543 (GRCm39)		probably benign	Het
Zfp128	A	G	7: 12,624,949 (GRCm39)	Y439C	probably benign	Het
Zfy1	T	A	Y: 725,620 (GRCm39)	H715L	possibly damaging	Het
Zmym1	A	C	4: 126,941,872 (GRCm39)	L839V	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- GGTCTGCAGGATTTATCGTCCG -3'
(R):5'- GGCACCATTCTCAGATACAGC -3'

Sequencing Primer
(F):5'- CCTAAGAGGAAGGCTTCTTGC -3'
(R):5'- ATTCTCAGATACAGCGTGGC -3'

Posted On

2014-06-23