Mutagenetix > Incidental Mutation

Incidental Mutation 'R7018:Cdh11'

545452

Institutional Source

Beutler Lab

Gene Symbol

Cdh11

Ensembl Gene

ENSMUSG00000031673

Gene Name

cadherin 11

Synonyms

osteoblast-cadherin, Cad11, OB-cadherin

MMRRC Submission

045119-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7018 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

102632095-102785642 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102634321 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 795 (D795G)

Ref Sequence

ENSEMBL: ENSMUSP00000074681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075190]

AlphaFold

P55288

PDB Structure

Crystal structure of mouse cadherin-11 EC1 [X-RAY DIFFRACTION]
Crystal structure of mouse cadherin-11 EC1-2 [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075190
AA Change: D795G

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000074681
Gene: ENSMUSG00000031673
AA Change: D795G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	76	157	1.99e-19	SMART
CA	181	266	3.33e-30	SMART
CA	290	382	3.37e-17	SMART
CA	405	486	1.14e-23	SMART
CA	513	600	4.77e-8	SMART
transmembrane domain	618	640	N/A	INTRINSIC
Pfam:Cadherin_C	643	788	1.1e-56	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (64/64)

MGI Phenotype

FUNCTION: This gene encodes a type II classical cadherin and preproprotein that is proteolytically processed to generate a mature protein product. This protein product is an integral membrane protein that mediates calcium-dependent cell-cell adhesion, specifically in the context of bone development. Homozygous knockout mice for this gene exhibit impaired synovium development and reduced bone density. Multiple pseudogenes of this gene have been identified in the genome. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous mutant animals appear healthy and fertile. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apcdd1	G	T	18: 62,937,049	R129L	probably damaging	Het
Arhgef28	C	T	13: 97,965,435	V844I	probably damaging	Het
Arhgef5	T	C	6: 43,288,731	V1569A	probably damaging	Het
Atr	T	A	9: 95,866,694	S431T	probably benign	Het
Crygf	T	C	1: 65,927,971	S85P	probably benign	Het
Diexf	A	G	1: 193,114,855	I563T	probably benign	Het
Dip2c	T	A	13: 9,659,278	Y1385N	probably damaging	Het
Dnah14	G	A	1: 181,626,944	V840I	possibly damaging	Het
Dsg1a	T	C	18: 20,328,738	F299L	possibly damaging	Het
Fgfr4	A	T	13: 55,166,200	S576C	probably damaging	Het
Frmd8	T	C	19: 5,869,518	D167G	probably damaging	Het
Gm5105	G	A	3: 138,049,558	T89I	unknown	Het
Grhl1	C	T	12: 24,575,997	S35L	possibly damaging	Het
Gsn	A	G	2: 35,293,506	E242G	probably benign	Het
Hcrtr1	A	G	4: 130,135,868	I140T	probably damaging	Het
Ifnlr1	T	C	4: 135,703,824	Y208H	possibly damaging	Het
Ighv1-58	T	C	12: 115,312,365	Y51C	probably damaging	Het
Iqcj	T	A	3: 68,041,247	Y21*	probably null	Het
Kcnc4	T	C	3: 107,458,862	Y10C	probably benign	Het
Kcnk7	G	T	19: 5,706,132	G129W	probably damaging	Het
Kcnq2	T	A	2: 181,081,724	R620*	probably null	Het
Klk13	C	A	7: 43,726,702	P267Q	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378		probably benign	Het
L3mbtl4	G	A	17: 68,486,943	R314H	probably damaging	Het
Lamc2	T	A	1: 153,136,742	M729L	probably benign	Het
Lyst	T	G	13: 13,743,459		probably null	Het
Med13l	G	A	5: 118,751,986	R1909H	probably damaging	Het
Mstn	T	A	1: 53,064,084	L193Q	possibly damaging	Het
Mylk	T	C	16: 35,000,426	V125A	possibly damaging	Het
Nalcn	T	A	14: 123,409,821	M547L	probably damaging	Het
Nckap5	A	G	1: 126,025,048	S1256P	probably damaging	Het
Nkain1	T	C	4: 130,532,118	Y189C	probably damaging	Het
Olfr1164	T	A	2: 88,093,256	I227F	probably benign	Het
Olfr193	A	G	16: 59,110,607	M1T	probably null	Het
Olfr490	T	G	7: 108,286,344	I261L	probably benign	Het
Olfr761	A	T	17: 37,952,502	I174N	probably damaging	Het
Oosp3	T	A	19: 11,699,419	D47E	probably benign	Het
Pcdh15	G	T	10: 74,466,354	G942W	probably damaging	Het
Pcyox1l	C	A	18: 61,707,554		probably benign	Het
Peg3	T	C	7: 6,708,839	E1128G	possibly damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Plscr1	T	A	9: 92,264,662	V119D	probably damaging	Het
Prss56	A	T	1: 87,185,948	D258V	possibly damaging	Het
Ptpn23	T	G	9: 110,385,816	K85Q	possibly damaging	Het
Ranbp3l	C	A	15: 9,007,285	S7Y	probably benign	Het
Rnf31	T	C	14: 55,592,233	L85P	probably damaging	Het
Rptn	T	C	3: 93,397,900	C847R	possibly damaging	Het
Six4	T	A	12: 73,108,953	E413D	probably benign	Het
Slc30a2	G	A	4: 134,347,415	R161Q	probably damaging	Het
Sned1	T	C	1: 93,284,421	V1115A	probably damaging	Het
Spen	T	C	4: 141,493,444	K401E	unknown	Het
Srbd1	T	A	17: 86,136,415	R128W	possibly damaging	Het
Strc	A	T	2: 121,369,058	I1300N	probably damaging	Het
Susd1	T	G	4: 59,390,627	T230P	probably benign	Het
Thumpd2	G	T	17: 81,055,897	S47*	probably null	Het
Tmprss11a	C	T	5: 86,428,570	V141I	probably damaging	Het
Tmprss15	T	C	16: 79,024,853	Y438C	possibly damaging	Het
Tnfrsf1a	T	C	6: 125,356,951	S56P	probably damaging	Het
Ttc39d	T	C	17: 80,216,181	W90R	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Wdr20rt	A	T	12: 65,225,762		probably null	Het
Zfp646	C	A	7: 127,882,322	Q1224K	probably benign	Het

Other mutations in Cdh11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Cdh11	APN	8	102650649	missense	probably damaging	1.00
IGL01019:Cdh11	APN	8	102679745	missense	probably benign
IGL01286:Cdh11	APN	8	102664629	missense	probably damaging	0.98
IGL01556:Cdh11	APN	8	102679644	missense	probably damaging	1.00
IGL01964:Cdh11	APN	8	102664743	missense	probably benign	0.03
IGL02322:Cdh11	APN	8	102647519	missense	probably benign	0.01
IGL03094:Cdh11	APN	8	102658403	missense	probably benign
IGL03110:Cdh11	APN	8	102673870	missense	probably damaging	1.00
IGL03391:Cdh11	APN	8	102674023	missense	possibly damaging	0.89
R0401:Cdh11	UTSW	8	102674006	missense	probably damaging	1.00
R0466:Cdh11	UTSW	8	102670058	missense	possibly damaging	0.89
R0731:Cdh11	UTSW	8	102668019	missense	probably damaging	1.00
R0925:Cdh11	UTSW	8	102634724	missense	probably damaging	1.00
R1597:Cdh11	UTSW	8	102650711	missense	probably benign	0.06
R1624:Cdh11	UTSW	8	102664601	splice site	probably benign
R1829:Cdh11	UTSW	8	102634641	missense	possibly damaging	0.92
R2029:Cdh11	UTSW	8	102679772	missense	probably benign	0.00
R4191:Cdh11	UTSW	8	102650748	missense	probably damaging	0.98
R4270:Cdh11	UTSW	8	102664626	missense	possibly damaging	0.69
R4271:Cdh11	UTSW	8	102664626	missense	possibly damaging	0.69
R4455:Cdh11	UTSW	8	102647823	missense	probably benign
R4516:Cdh11	UTSW	8	102673962	missense	possibly damaging	0.59
R4900:Cdh11	UTSW	8	102647458	splice site	probably null
R5441:Cdh11	UTSW	8	102647546	missense	probably benign	0.11
R5699:Cdh11	UTSW	8	102634543	missense	probably damaging	0.96
R6170:Cdh11	UTSW	8	102634810	missense	probably benign	0.00
R6846:Cdh11	UTSW	8	102664644	missense	probably damaging	0.97
R7095:Cdh11	UTSW	8	102658267	missense	probably damaging	1.00
R7497:Cdh11	UTSW	8	102673824	missense	probably benign	0.00
R7632:Cdh11	UTSW	8	102673883	missense	probably damaging	0.99
R7715:Cdh11	UTSW	8	102664714	missense	possibly damaging	0.66
R8321:Cdh11	UTSW	8	102634784	missense	probably damaging	0.99
R8529:Cdh11	UTSW	8	102664755	missense	probably benign	0.01
R8530:Cdh11	UTSW	8	102664755	missense	probably benign	0.01
R8682:Cdh11	UTSW	8	102650716	missense	probably benign	0.24
R9105:Cdh11	UTSW	8	102634336	missense	probably damaging	0.99
R9404:Cdh11	UTSW	8	102679622	missense	probably damaging	1.00
R9660:Cdh11	UTSW	8	102658247	missense	possibly damaging	0.70
R9684:Cdh11	UTSW	8	102664695	missense	probably benign	0.04
R9721:Cdh11	UTSW	8	102679625	missense	probably damaging	1.00
R9802:Cdh11	UTSW	8	102664644	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAGTTCACCGTGGACTTCTCC -3'
(R):5'- GGCAGATAATGATCCCACAGCC -3'

Sequencing Primer
(F):5'- TGCTTTTTAAGTGGGAAAAGGTAC -3'
(R):5'- GATAATGATCCCACAGCCCCTCC -3'

Posted On

2019-05-13