Mutagenetix > Incidental Mutation

Incidental Mutation 'R9721:Cdh11'

730798

Institutional Source

Beutler Lab

Gene Symbol

Cdh11

Ensembl Gene

ENSMUSG00000031673

Gene Name

cadherin 11

Synonyms

Cad11, osteoblast-cadherin, OB-cadherin

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9721 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103358727-103512125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103406257 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 72 (V72E)

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

probably damaging
Transcript: ENSMUST00000075190
AA Change: V72E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074681
Gene: ENSMUSG00000031673
AA Change: V72E

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: 99.7%
20x: 99.1%

Validation Efficiency

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
1700006A11Rik	A	T	3: 124,212,932 (GRCm39)	Y120N	probably benign	Het
AAdacl4fm3	A	T	4: 144,429,942 (GRCm39)	V349D	possibly damaging	Het
Alox8	T	A	11: 69,087,911 (GRCm39)	H131L	probably benign	Het
Atp13a1	A	G	8: 70,252,087 (GRCm39)	E588G	probably damaging	Het
AU040320	G	A	4: 126,733,441 (GRCm39)	V654M	probably damaging	Het
Bicra	A	G	7: 15,713,101 (GRCm39)	L982P	probably damaging	Het
Cfap65	T	C	1: 74,958,501 (GRCm39)	T869A	probably benign	Het
Cplane1	A	G	15: 8,254,893 (GRCm39)	T27A	unknown	Het
Ddx19a	A	G	8: 111,705,107 (GRCm39)	F338S	probably damaging	Het
Dhrs7c	T	A	11: 67,705,904 (GRCm39)	V219E	probably damaging	Het
Dhx33	A	G	11: 70,892,424 (GRCm39)	V115A	probably damaging	Het
Dst	A	G	1: 34,231,866 (GRCm39)	D3153G	probably benign	Het
Ecpas	A	T	4: 58,850,938 (GRCm39)	S412T	probably benign	Het
Eif5b	T	C	1: 38,076,740 (GRCm39)		probably null	Het
Ep300	A	G	15: 81,492,516 (GRCm39)	N284S	unknown	Het
Fam83a	A	G	15: 57,849,513 (GRCm39)	N19S	probably benign	Het
Fgd5	A	T	6: 91,965,278 (GRCm39)	T504S	probably benign	Het
Flt4	G	A	11: 49,535,260 (GRCm39)		probably null	Het
Ggta1	G	T	2: 35,303,418 (GRCm39)	D91E	probably benign	Het
Gls	A	G	1: 52,251,427 (GRCm39)	V310A	probably damaging	Het
Gm5414	A	T	15: 101,536,582 (GRCm39)	C14*	probably null	Het
Gm9887	C	G	12: 69,418,629 (GRCm39)	A202P	unknown	Het
Ifi214	T	C	1: 173,355,479 (GRCm39)	T110A	possibly damaging	Het
Il4i1	A	G	7: 44,489,113 (GRCm39)	R293G	probably benign	Het
Itpr1	A	T	6: 108,383,063 (GRCm39)	T1464S	probably damaging	Het
Kif18a	T	C	2: 109,123,400 (GRCm39)	S225P	probably damaging	Het
Kif21a	A	T	15: 90,855,330 (GRCm39)	I678N	probably damaging	Het
Klf11	T	A	12: 24,710,240 (GRCm39)	D429E	probably damaging	Het
Kntc1	A	G	5: 123,939,948 (GRCm39)	T1581A	probably benign	Het
Lama2	T	C	10: 27,343,338 (GRCm39)	N45D	possibly damaging	Het
Lrrk1	T	C	7: 65,924,623 (GRCm39)	I1319V	probably damaging	Het
Ltbr	G	A	6: 125,284,348 (GRCm39)	R365W	probably damaging	Het
Malrd1	C	T	2: 15,701,638 (GRCm39)	T751I	unknown	Het
Matcap1	A	T	8: 106,009,820 (GRCm39)	D376E	probably benign	Het
Mgat5b	T	C	11: 116,857,595 (GRCm39)	L363P	probably damaging	Het
Mphosph9	A	T	5: 124,436,738 (GRCm39)	S535R	possibly damaging	Het
Nckap5	C	T	1: 125,955,017 (GRCm39)	D512N	probably damaging	Het
Ngef	T	A	1: 87,406,857 (GRCm39)	D637V	probably damaging	Het
Nup93	T	C	8: 95,030,313 (GRCm39)	Y391H	probably damaging	Het
Or10j7	C	A	1: 173,011,915 (GRCm39)	V29F	probably benign	Het
Or4c110	T	C	2: 88,832,060 (GRCm39)	T191A		Het
Or5b3	A	T	19: 13,388,334 (GRCm39)	T134S	probably benign	Het
Pcdhb4	C	A	18: 37,442,905 (GRCm39)	D738E	possibly damaging	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Phactr3	G	A	2: 177,898,043 (GRCm39)	E86K	probably damaging	Het
Psd	C	T	19: 46,311,628 (GRCm39)	D351N	probably benign	Het
Pzp	A	G	6: 128,472,154 (GRCm39)		probably null	Het
Rerg	T	A	6: 137,033,415 (GRCm39)	K106*	probably null	Het
Samd9l	T	C	6: 3,375,854 (GRCm39)	E469G	possibly damaging	Het
Smok2b	C	A	17: 13,453,865 (GRCm39)	Y8*	probably null	Het
Spata31e3	T	C	13: 50,400,688 (GRCm39)	Y546C	possibly damaging	Het
Spn	A	G	7: 126,735,437 (GRCm39)	S357P	probably benign	Het
Tek	T	G	4: 94,692,539 (GRCm39)	W216G	possibly damaging	Het
Trpm3	A	T	19: 22,866,762 (GRCm39)	H531L	probably benign	Het
Trpm6	A	G	19: 18,807,336 (GRCm39)	M1027V	probably benign	Het
Tsc2	G	A	17: 24,818,616 (GRCm39)	R1408*	probably null	Het
Tut4	T	A	4: 108,412,778 (GRCm39)	M1493K	probably benign	Het
Unc13b	A	G	4: 43,101,869 (GRCm39)	N155D	probably benign	Het
Vmn1r52	G	A	6: 90,156,008 (GRCm39)	C104Y	probably damaging	Het
Xylt1	A	T	7: 117,148,255 (GRCm39)	E273V	probably damaging	Het
Zc3h4	C	A	7: 16,168,770 (GRCm39)	Q1035K	unknown	Het
Zfp14	A	T	7: 29,738,609 (GRCm39)	S125R	probably benign	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
R0466:Cdh11	UTSW	8	103,396,690 (GRCm39)	missense	possibly damaging	0.89
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
R9802:Cdh11	UTSW	8	103,391,276 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ACATTAGAAGCATTCTCAGTGTGG -3'
(R):5'- ATGCTATACCACAGCCAGGC -3'

Sequencing Primer
(F):5'- TTTGGTCCATGAATGAGGAGGAG -3'
(R):5'- TATACCACAGCCAGGCGTTTG -3'

Posted On

2022-10-06