Mutagenetix > Incidental Mutation

Incidental Mutation 'R5408:Cdh3'

426397

Institutional Source

Beutler Lab

Gene Symbol

Cdh3

Ensembl Gene

ENSMUSG00000061048

Gene Name

cadherin 3

Synonyms

P-cadherin, Cadp, Pcad

MMRRC Submission

042977-MU

Accession Numbers

Essential gene?

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

Stock #

R5408 (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 107263269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 106 (I106T)

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: I106T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000079613
Gene: ENSMUSG00000061048
AA Change: I106T

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

0.3825

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430110L20Rik	A	G	1: 181,054,979 (GRCm39)		noncoding transcript	Het
Actn2	T	C	13: 12,285,681 (GRCm39)	I837V	probably benign	Het
Adora1	T	A	1: 134,130,901 (GRCm39)	T257S	probably benign	Het
Akap9	T	A	5: 4,108,458 (GRCm39)	M2954K	possibly damaging	Het
Akr1c13	G	T	13: 4,244,715 (GRCm39)	A98S	probably benign	Het
Aldh2	C	T	5: 121,708,620 (GRCm39)		probably benign	Het
Ank1	A	G	8: 23,572,209 (GRCm39)	N48D	probably damaging	Het
Ash1l	A	G	3: 88,889,701 (GRCm39)	T527A	probably damaging	Het
Atp13a1	T	C	8: 70,249,490 (GRCm39)	V251A	probably benign	Het
Baz1a	A	T	12: 54,969,835 (GRCm39)	D608E	probably damaging	Het
Bend5	A	T	4: 111,311,280 (GRCm39)		probably null	Het
Blm	T	G	7: 80,152,370 (GRCm39)	T526P	probably benign	Het
Cacna1a	T	C	8: 85,276,336 (GRCm39)	V559A	probably damaging	Het
Cacna2d4	A	G	6: 119,325,752 (GRCm39)	D1042G	probably damaging	Het
Cadps	T	C	14: 12,705,759 (GRCm38)	H212R	possibly damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Cfap68	T	C	9: 50,676,057 (GRCm39)	N87S	probably damaging	Het
Col16a1	A	T	4: 129,986,898 (GRCm39)		probably benign	Het
Dctn6	C	T	8: 34,562,056 (GRCm39)	V89I	possibly damaging	Het
Dgkz	C	A	2: 91,766,168 (GRCm39)	G798W	possibly damaging	Het
Epb41l2	A	T	10: 25,343,992 (GRCm39)		probably null	Het
Fam171a2	T	C	11: 102,328,344 (GRCm39)	K805R	possibly damaging	Het
Fam89b	G	T	19: 5,779,421 (GRCm39)	Y45*	probably null	Het
Fchsd2	A	G	7: 100,920,781 (GRCm39)	N462S	possibly damaging	Het
Fyco1	T	G	9: 123,658,568 (GRCm39)	H536P	probably damaging	Het
Galnt12	A	T	4: 47,104,169 (GRCm39)	E142D	probably damaging	Het
Gspt1	C	T	16: 11,071,719 (GRCm39)	G48D	probably benign	Het
H6pd	A	G	4: 150,067,322 (GRCm39)	S355P	probably damaging	Het
Hectd2	T	C	19: 36,532,296 (GRCm39)	V38A	possibly damaging	Het
Jup	C	T	11: 100,267,607 (GRCm39)	R572Q	probably damaging	Het
Kcng3	T	C	17: 83,938,434 (GRCm39)	D205G	probably benign	Het
Kif13b	A	T	14: 65,017,138 (GRCm39)		probably null	Het
Mapk3	A	G	7: 126,363,007 (GRCm39)	D253G	probably damaging	Het
Methig1	A	T	15: 100,281,635 (GRCm39)	Y253F	possibly damaging	Het
Mmp3	T	C	9: 7,449,904 (GRCm39)	S263P	probably damaging	Het
Mpo	T	A	11: 87,691,851 (GRCm39)		probably null	Het
Nbeal2	C	A	9: 110,466,588 (GRCm39)	G772W	possibly damaging	Het
Nr1d1	T	A	11: 98,661,087 (GRCm39)	H393L	probably benign	Het
Obscn	A	G	11: 58,942,437 (GRCm39)	V4915A	probably damaging	Het
Olfml2b	T	A	1: 170,472,545 (GRCm39)	W19R	probably damaging	Het
Or13p4	T	C	4: 118,547,641 (GRCm39)	T3A	probably benign	Het
Or56b1b	C	T	7: 108,164,376 (GRCm39)	A209T	probably damaging	Het
Padi6	G	A	4: 140,454,996 (GRCm39)	T647I	probably damaging	Het
Pcyox1	A	G	6: 86,369,280 (GRCm39)	L113S	probably damaging	Het
Pde4dip	T	A	3: 97,704,052 (GRCm39)	T192S	probably benign	Het
Pip4k2a	T	C	2: 18,911,119 (GRCm39)	H87R	probably benign	Het
Pkd1l3	C	A	8: 110,393,684 (GRCm39)	T2004N	probably damaging	Het
Prex1	CGTTGTTGTTGT	CGTTGTTGTTGTTGT	2: 166,417,573 (GRCm39)		probably benign	Het
Ptprz1	C	T	6: 23,002,599 (GRCm39)	T1563I	probably damaging	Het
Reg3b	T	C	6: 78,350,215 (GRCm39)	V165A	probably benign	Het
Rreb1	A	G	13: 38,115,320 (GRCm39)	D893G	probably benign	Het
Sap18	A	T	14: 58,039,431 (GRCm39)	M78L	probably benign	Het
Scaper	A	T	9: 55,493,508 (GRCm39)	F1226I	probably damaging	Het
Scyl3	A	T	1: 163,782,245 (GRCm39)		probably null	Het
Shoc2	A	G	19: 53,976,556 (GRCm39)	M149V	probably benign	Het
Slc7a2	G	A	8: 41,368,042 (GRCm39)	R602K	probably damaging	Het
Sox30	A	G	11: 45,882,694 (GRCm39)	I575V	possibly damaging	Het
Trim14	A	T	4: 46,507,134 (GRCm39)	C361S	possibly damaging	Het
Ttn	T	C	2: 76,731,272 (GRCm39)		probably benign	Het
Uncx	A	T	5: 139,530,245 (GRCm39)	K108*	probably null	Het
Usp54	A	T	14: 20,600,501 (GRCm39)	L1412Q	probably damaging	Het
Uty	A	G	Y: 1,245,614 (GRCm39)	V6A	possibly damaging	Het
Vmn1r30	C	T	6: 58,412,029 (GRCm39)	V268I	probably benign	Het
Wdsub1	T	C	2: 59,691,887 (GRCm39)		probably benign	Het
Wipf3	A	G	6: 54,458,896 (GRCm39)	I84V	probably benign	Het
Xcr1	T	A	9: 123,685,631 (GRCm39)	I44F	probably benign	Het
Zfp687	T	C	3: 94,916,586 (GRCm39)		probably benign	Het
Zfp729b	A	T	13: 67,739,563 (GRCm39)	S901T	probably benign	Het
Zhx1	A	T	15: 57,915,819 (GRCm39)	M809K	probably damaging	Het
Zswim9	T	C	7: 12,994,753 (GRCm39)	K468E	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
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
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'- CCCATTCCTCCTGAGAAGAC -3'
(R):5'- GAAAATCTTGGTGCCTCTGTCC -3'

Sequencing Primer
(F):5'- GGCTGGCCTCAAATTGCTACATAG -3'
(R):5'- GTCCTTATTAGATTTGAGCTGGAAAC -3'

Posted On

2016-09-01