Mutagenetix > Incidental Mutations

Incidental Mutation 'R0731:Cdh11'

67562

Institutional Source

Beutler Lab

Gene Symbol

Cdh11

Ensembl Gene

ENSMUSG00000031673

Gene Name

cadherin 11

Synonyms

osteoblast-cadherin, Cad11, OB-cadherin

MMRRC Submission

038912-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0731 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

102632095-102785642 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102668019 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 264 (N264Y)

Ref Sequence

ENSEMBL: ENSMUSP00000074681 (fasta)

Gene Model

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

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

probably damaging
Transcript: ENSMUST00000075190
AA Change: N264Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000074681
Gene: ENSMUSG00000031673
AA Change: N264Y

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210425

Meta Mutation Damage Score

0.3779

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

97% (73/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430F08Rik	T	C	10: 100,586,203	T66A	probably damaging	Het
4933406M09Rik	A	C	1: 134,389,975	M162L	probably benign	Het
Acsm3	A	T	7: 119,768,024	R27*	probably null	Het
Actg1	A	G	11: 120,346,949	F255S	probably damaging	Het
Ahdc1	T	A	4: 133,062,951	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,305,390	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,997,495		probably null	Het
Cacnb2	A	G	2: 14,985,706	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,579,143	K398N	probably damaging	Het
Cd79b	G	T	11: 106,312,433	S145R	probably damaging	Het
Celsr1	T	C	15: 85,901,597	D2892G	probably benign	Het
Chuk	A	G	19: 44,103,766		probably benign	Het
Clk3	T	C	9: 57,751,126		probably benign	Het
Dcaf8	A	T	1: 172,172,509	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,183,089	T87A	probably damaging	Het
Ddx50	T	C	10: 62,616,249	N732D	unknown	Het
Dnah5	A	T	15: 28,311,143	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,969,856	V858E	probably damaging	Het
Fer1l4	A	G	2: 156,024,070	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,113,854	I125V	probably benign	Het
Fuca2	C	T	10: 13,506,027	P228L	probably benign	Het
Galntl6	A	G	8: 58,535,984	F57L	probably benign	Het
Gigyf2	T	A	1: 87,407,727		probably benign	Het
Gm16505	A	T	13: 3,361,329		noncoding transcript	Het
Gm4781	T	C	10: 100,396,777		noncoding transcript	Het
Gm9956	T	A	10: 56,745,543	Y100*	probably null	Het
Gpr137c	T	A	14: 45,246,349	C178S	probably damaging	Het
Gpr83	A	G	9: 14,868,644	R331G	probably benign	Het
Hlcs	T	A	16: 94,131,852	H851L	probably damaging	Het
Kbtbd6	C	A	14: 79,451,884	Y6*	probably null	Het
Kif23	T	C	9: 61,925,032	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,105,733	T487I	probably damaging	Het
Klra5	A	C	6: 129,908,796	D133E	possibly damaging	Het
Klra6	T	C	6: 130,022,705	E100G	probably damaging	Het
Klre1	T	A	6: 129,585,568		probably benign	Het
Lancl1	C	T	1: 67,009,910		probably null	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Man1b1	A	G	2: 25,338,155	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,874,264		probably benign	Het
Mast3	A	G	8: 70,781,321	S178P	probably damaging	Het
Mau2	A	G	8: 70,023,612		probably null	Het
Mkrn2	A	T	6: 115,614,651	N312Y	probably damaging	Het
Mrvi1	T	C	7: 110,876,900	S615G	probably benign	Het
Myh1	A	G	11: 67,202,533	E150G	probably damaging	Het
Myo7b	T	A	18: 31,961,825		probably null	Het
Nyap1	A	G	5: 137,735,298	V491A	probably damaging	Het
Olfr1284	A	G	2: 111,379,293	M98V	probably damaging	Het
Olfr484	T	C	7: 108,124,734	I176M	probably benign	Het
Olfr518	A	T	7: 108,881,533	N24K	probably damaging	Het
Olfr954	T	C	9: 39,461,532	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893	H385Q	probably damaging	Het
Pbld2	T	C	10: 63,056,811	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,029,305	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,351,541	H266Q	probably damaging	Het
Rbfox2	A	G	15: 77,099,279	S141P	probably benign	Het
Rdx	A	G	9: 52,068,218	T214A	probably benign	Het
Ripor2	A	T	13: 24,680,644	E219V	probably damaging	Het
Rufy2	G	A	10: 63,011,844		probably benign	Het
Slf2	T	A	19: 44,975,726		probably benign	Het
Snrnp200	G	T	2: 127,226,145		probably benign	Het
Snx7	T	A	3: 117,829,671		probably benign	Het
Stt3a	T	C	9: 36,735,512	I602V	probably damaging	Het
Tacr3	G	A	3: 134,855,000		probably null	Het
Tcerg1	C	T	18: 42,571,840	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,788,269	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,365,488	D860G	probably damaging	Het
Try4	T	C	6: 41,304,367	L81P	probably benign	Het
Ucp1	T	C	8: 83,297,847		probably benign	Het
Ugt2b38	G	A	5: 87,420,452	A328V	probably damaging	Het
Wfikkn1	T	A	17: 25,878,017	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,410,632	T875A	probably benign	Het
Zfp11	A	G	5: 129,657,264	S378P	probably damaging	Het
Zfp984	T	A	4: 147,756,232	N54I	probably damaging	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
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
R7018:Cdh11	UTSW	8	102634321	missense	possibly damaging	0.82
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

Predicted Primers

PCR Primer
(F):5'- ACCTCAAGACTCAGATATTCCGGTCTC -3'
(R):5'- TAGGTATCATCAGGACAGCCCTTCCC -3'

Sequencing Primer
(F):5'- GAGTTACACAGTTTTTAATGTCTTCC -3'
(R):5'- GGACAGCCCTTCCCAATATGG -3'

Posted On

2013-09-03