Mutagenetix > Incidental Mutation

Incidental Mutation 'R0466:Cdh11'

41637

Institutional Source

Beutler Lab

Gene Symbol

Cdh11

Ensembl Gene

ENSMUSG00000031673

Gene Name

cadherin 11

Synonyms

Cad11, osteoblast-cadherin, OB-cadherin

MMRRC Submission

038666-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0466 (G1)

Quality Score

212

Status

Validated

Chromosome

Chromosomal Location

103358727-103512125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103396690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 213 (Q213L)

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: Q213L

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074681
Gene: ENSMUSG00000031673
AA Change: Q213L

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

0.1463

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

97% (63/65)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	C	15: 59,887,321 (GRCm39)	Y373C	probably benign	Het
Abca12	T	G	1: 71,341,822 (GRCm39)	Q1046H	probably damaging	Het
Adgrv1	A	G	13: 81,714,415 (GRCm39)	F956S	probably benign	Het
Alk	A	G	17: 72,212,152 (GRCm39)	V797A	possibly damaging	Het
Ascl2	A	G	7: 142,522,217 (GRCm39)	L77P	probably benign	Het
Aspm	A	T	1: 139,405,639 (GRCm39)	I1509F	probably damaging	Het
AY358078	A	T	14: 52,043,089 (GRCm39)	Y259F	unknown	Het
Cbs	G	A	17: 31,835,126 (GRCm39)	A450V	probably benign	Het
Cdh26	C	T	2: 178,123,425 (GRCm39)	R675C	possibly damaging	Het
Cfap126	T	C	1: 170,953,769 (GRCm39)	I113T	probably damaging	Het
Clk4	A	G	11: 51,158,155 (GRCm39)	D53G	possibly damaging	Het
Dab1	T	C	4: 104,577,747 (GRCm39)	L272P	probably benign	Het
Dmtf1	A	T	5: 9,182,454 (GRCm39)		probably null	Het
Dph5	A	C	3: 115,722,359 (GRCm39)	D279A	probably benign	Het
Fbxw19	T	A	9: 109,307,717 (GRCm39)	T461S	probably benign	Het
G3bp1	T	C	11: 55,389,452 (GRCm39)	F383L	probably damaging	Het
Gcg	T	C	2: 62,307,282 (GRCm39)	D93G	probably damaging	Het
Gmps	A	G	3: 63,901,365 (GRCm39)	T395A	probably damaging	Het
H2-Ob	A	G	17: 34,461,633 (GRCm39)	D124G	probably damaging	Het
Itga8	G	T	2: 12,237,697 (GRCm39)	A341E	probably damaging	Het
Itih3	A	G	14: 30,634,831 (GRCm39)		probably null	Het
Kcnh4	C	T	11: 100,637,758 (GRCm39)	G633E	probably benign	Het
Kif2c	C	T	4: 117,029,489 (GRCm39)	R215Q	possibly damaging	Het
Letm1	A	C	5: 33,919,074 (GRCm39)		probably benign	Het
Lypd8l	T	C	11: 58,503,331 (GRCm39)		probably benign	Het
Mmp3	A	G	9: 7,450,165 (GRCm39)	D299G	probably damaging	Het
Myh8	G	T	11: 67,189,405 (GRCm39)	A1194S	probably benign	Het
Naip2	A	C	13: 100,298,290 (GRCm39)	I582S	probably benign	Het
Nfib	A	C	4: 82,416,775 (GRCm39)	Y87D	probably damaging	Het
Nlrp4a	T	C	7: 26,162,045 (GRCm39)		probably benign	Het
Nsmce1	A	T	7: 125,071,408 (GRCm39)		probably benign	Het
Odad2	T	A	18: 7,286,758 (GRCm39)	I158F	probably benign	Het
Or7g12	T	G	9: 18,899,551 (GRCm39)	V89G	probably benign	Het
Or7g27	A	T	9: 19,250,475 (GRCm39)	T240S	probably damaging	Het
Patj	C	A	4: 98,576,393 (GRCm39)	Q1193K	probably damaging	Het
Pcdhb5	G	A	18: 37,455,596 (GRCm39)	V659M	probably damaging	Het
Pkd1l3	C	G	8: 110,350,281 (GRCm39)	D375E	possibly damaging	Het
Pmis2	T	C	7: 30,370,817 (GRCm39)	I46V	probably benign	Het
Ppp2r5e	A	G	12: 75,509,216 (GRCm39)		probably benign	Het
Prom2	A	G	2: 127,370,709 (GRCm39)	F825S	probably damaging	Het
Rab11fip2	G	A	19: 59,894,675 (GRCm39)	A524V	possibly damaging	Het
Rb1cc1	A	C	1: 6,333,491 (GRCm39)		probably null	Het
Rwdd3	G	C	3: 120,952,668 (GRCm39)	Q180E	possibly damaging	Het
Sema6a	G	A	18: 47,423,112 (GRCm39)		probably null	Het
Sgcg	A	T	14: 61,459,135 (GRCm39)	C265S	probably damaging	Het
Slc16a3	T	C	11: 120,848,878 (GRCm39)	S445P	possibly damaging	Het
Slc22a3	G	A	17: 12,677,380 (GRCm39)	Q263*	probably null	Het
Sorcs3	A	G	19: 48,736,758 (GRCm39)	T694A	probably benign	Het
Tbc1d15	T	C	10: 115,055,077 (GRCm39)	K322E	probably damaging	Het
Tecta	G	T	9: 42,284,369 (GRCm39)	F905L	probably benign	Het
Tmeff1	A	G	4: 48,636,853 (GRCm39)	I184V	possibly damaging	Het
Ttf1	A	G	2: 28,955,419 (GRCm39)	H261R	possibly damaging	Het
Ttll6	T	A	11: 96,036,417 (GRCm39)	L349M	probably damaging	Het
Ubac2	G	A	14: 122,211,031 (GRCm39)	V134M	probably damaging	Het
Ubxn4	G	A	1: 128,190,641 (GRCm39)	E256K	probably benign	Het
Vmn2r25	T	G	6: 123,829,008 (GRCm39)	I89L	probably benign	Het
Vmn2r6	A	C	3: 64,463,723 (GRCm39)	F370L	probably damaging	Het
Vps13b	T	A	15: 35,445,748 (GRCm39)	Y412*	probably null	Het
Zfp142	A	G	1: 74,624,570 (GRCm39)	S85P	possibly damaging	Het
Zfp516	G	A	18: 82,975,579 (GRCm39)		probably null	Het

Other mutations in Cdh11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00598:Cdh11	APN	8	103,377,281 (GRCm39)	missense	probably damaging	1.00
IGL01019:Cdh11	APN	8	103,406,377 (GRCm39)	missense	probably benign
IGL01286:Cdh11	APN	8	103,391,261 (GRCm39)	missense	probably damaging	0.98
IGL01556:Cdh11	APN	8	103,406,276 (GRCm39)	missense	probably damaging	1.00
IGL01964:Cdh11	APN	8	103,391,375 (GRCm39)	missense	probably benign	0.03
IGL02322:Cdh11	APN	8	103,374,151 (GRCm39)	missense	probably benign	0.01
IGL03094:Cdh11	APN	8	103,385,035 (GRCm39)	missense	probably benign
IGL03110:Cdh11	APN	8	103,400,502 (GRCm39)	missense	probably damaging	1.00
IGL03391:Cdh11	APN	8	103,400,655 (GRCm39)	missense	possibly damaging	0.89
R0401:Cdh11	UTSW	8	103,400,638 (GRCm39)	missense	probably damaging	1.00
R0731:Cdh11	UTSW	8	103,394,651 (GRCm39)	missense	probably damaging	1.00
R0925:Cdh11	UTSW	8	103,361,356 (GRCm39)	missense	probably damaging	1.00
R1597:Cdh11	UTSW	8	103,377,343 (GRCm39)	missense	probably benign	0.06
R1624:Cdh11	UTSW	8	103,391,233 (GRCm39)	splice site	probably benign
R1829:Cdh11	UTSW	8	103,361,273 (GRCm39)	missense	possibly damaging	0.92
R2029:Cdh11	UTSW	8	103,406,404 (GRCm39)	missense	probably benign	0.00
R4191:Cdh11	UTSW	8	103,377,380 (GRCm39)	missense	probably damaging	0.98
R4270:Cdh11	UTSW	8	103,391,258 (GRCm39)	missense	possibly damaging	0.69
R4271:Cdh11	UTSW	8	103,391,258 (GRCm39)	missense	possibly damaging	0.69
R4455:Cdh11	UTSW	8	103,374,455 (GRCm39)	missense	probably benign
R4516:Cdh11	UTSW	8	103,400,594 (GRCm39)	missense	possibly damaging	0.59
R4900:Cdh11	UTSW	8	103,374,090 (GRCm39)	splice site	probably null
R5441:Cdh11	UTSW	8	103,374,178 (GRCm39)	missense	probably benign	0.11
R5699:Cdh11	UTSW	8	103,361,175 (GRCm39)	missense	probably damaging	0.96
R6170:Cdh11	UTSW	8	103,361,442 (GRCm39)	missense	probably benign	0.00
R6846:Cdh11	UTSW	8	103,391,276 (GRCm39)	missense	probably damaging	0.97
R7018:Cdh11	UTSW	8	103,360,953 (GRCm39)	missense	possibly damaging	0.82
R7095:Cdh11	UTSW	8	103,384,899 (GRCm39)	missense	probably damaging	1.00
R7497:Cdh11	UTSW	8	103,400,456 (GRCm39)	missense	probably benign	0.00
R7632:Cdh11	UTSW	8	103,400,515 (GRCm39)	missense	probably damaging	0.99
R7715:Cdh11	UTSW	8	103,391,346 (GRCm39)	missense	possibly damaging	0.66
R8321:Cdh11	UTSW	8	103,361,416 (GRCm39)	missense	probably damaging	0.99
R8529:Cdh11	UTSW	8	103,391,387 (GRCm39)	missense	probably benign	0.01
R8530:Cdh11	UTSW	8	103,391,387 (GRCm39)	missense	probably benign	0.01
R8682:Cdh11	UTSW	8	103,377,348 (GRCm39)	missense	probably benign	0.24
R9105:Cdh11	UTSW	8	103,360,968 (GRCm39)	missense	probably damaging	0.99
R9404:Cdh11	UTSW	8	103,406,254 (GRCm39)	missense	probably damaging	1.00
R9660:Cdh11	UTSW	8	103,384,879 (GRCm39)	missense	possibly damaging	0.70
R9684:Cdh11	UTSW	8	103,391,327 (GRCm39)	missense	probably benign	0.04
R9721:Cdh11	UTSW	8	103,406,257 (GRCm39)	missense	probably damaging	1.00
R9802:Cdh11	UTSW	8	103,391,276 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCTTTGGGAACCTGTGTTCACAGC -3'
(R):5'- GAGGAGTGGTCTGCACTTGAACTG -3'

Sequencing Primer
(F):5'- CCAGTGGTCTTCCAAGGATG -3'
(R):5'- TCTGCACTTGAACTGTAGGAC -3'

Posted On

2013-05-23