Mutagenetix > Incidental Mutation

Incidental Mutation 'R0731:Cdh11'

67562

Institutional Source

Beutler Lab

Gene Symbol

Cdh11

Ensembl Gene

ENSMUSG00000031673

Gene Name

cadherin 11

Synonyms

Cad11, osteoblast-cadherin, OB-cadherin

MMRRC Submission

038912-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0731 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

103358727-103512125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103394651 bp (GRCm39)

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]

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: 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
Acsm3	A	T	7: 119,367,247 (GRCm39)	R27*	probably null	Het
Actg1	A	G	11: 120,237,775 (GRCm39)	F255S	probably damaging	Het
Ahdc1	T	A	4: 132,790,262 (GRCm39)	V501E	possibly damaging	Het
Alpk2	A	T	18: 65,438,461 (GRCm39)	D1444E	probably damaging	Het
Btaf1	T	G	19: 36,974,895 (GRCm39)		probably null	Het
Cacnb2	A	G	2: 14,990,517 (GRCm39)	H489R	possibly damaging	Het
Ccdc162	C	A	10: 41,455,139 (GRCm39)	K398N	probably damaging	Het
Cd79b	G	T	11: 106,203,259 (GRCm39)	S145R	probably damaging	Het
Celsr1	T	C	15: 85,785,798 (GRCm39)	D2892G	probably benign	Het
Chuk	A	G	19: 44,092,205 (GRCm39)		probably benign	Het
Clk3	T	C	9: 57,658,409 (GRCm39)		probably benign	Het
Dcaf8	A	T	1: 172,000,076 (GRCm39)	D78V	possibly damaging	Het
Dctn1	A	G	6: 83,160,071 (GRCm39)	T87A	probably damaging	Het
Ddx50	T	C	10: 62,452,028 (GRCm39)	N732D	unknown	Het
Dnah5	A	T	15: 28,311,289 (GRCm39)	Y1756F	possibly damaging	Het
Dock3	A	T	9: 106,847,055 (GRCm39)	V858E	probably damaging	Het
Fer1l4	A	G	2: 155,865,990 (GRCm39)	F1566S	probably benign	Het
Fpr-rs7	T	C	17: 20,334,116 (GRCm39)	I125V	probably benign	Het
Fuca2	C	T	10: 13,381,771 (GRCm39)	P228L	probably benign	Het
Galntl6	A	G	8: 58,989,018 (GRCm39)	F57L	probably benign	Het
Gigyf2	T	A	1: 87,335,449 (GRCm39)		probably benign	Het
Gm16505	A	T	13: 3,411,329 (GRCm39)		noncoding transcript	Het
Gm4781	T	C	10: 100,232,639 (GRCm39)		noncoding transcript	Het
Gm9956	T	A	10: 56,621,639 (GRCm39)	Y100*	probably null	Het
Gpr137c	T	A	14: 45,483,806 (GRCm39)	C178S	probably damaging	Het
Gpr83	A	G	9: 14,779,940 (GRCm39)	R331G	probably benign	Het
Hlcs	T	A	16: 93,932,711 (GRCm39)	H851L	probably damaging	Het
Irag1	T	C	7: 110,476,107 (GRCm39)	S615G	probably benign	Het
Kbtbd6	C	A	14: 79,689,324 (GRCm39)	Y6*	probably null	Het
Kif23	T	C	9: 61,832,314 (GRCm39)	R610G	possibly damaging	Het
Kifc3	G	A	8: 95,832,361 (GRCm39)	T487I	probably damaging	Het
Klra5	A	C	6: 129,885,759 (GRCm39)	D133E	possibly damaging	Het
Klra6	T	C	6: 129,999,668 (GRCm39)	E100G	probably damaging	Het
Klre1	T	A	6: 129,562,531 (GRCm39)		probably benign	Het
Lancl1	C	T	1: 67,049,069 (GRCm39)		probably null	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Man1b1	A	G	2: 25,228,167 (GRCm39)	I146V	possibly damaging	Het
Map4k5	T	A	12: 69,921,038 (GRCm39)		probably benign	Het
Mast3	A	G	8: 71,233,965 (GRCm39)	S178P	probably damaging	Het
Mau2	A	G	8: 70,476,262 (GRCm39)		probably null	Het
Mgat4f	A	C	1: 134,317,713 (GRCm39)	M162L	probably benign	Het
Mkrn2	A	T	6: 115,591,612 (GRCm39)	N312Y	probably damaging	Het
Myh1	A	G	11: 67,093,359 (GRCm39)	E150G	probably damaging	Het
Myo7b	T	A	18: 32,094,878 (GRCm39)		probably null	Het
Nyap1	A	G	5: 137,733,560 (GRCm39)	V491A	probably damaging	Het
Or10a3	A	T	7: 108,480,740 (GRCm39)	N24K	probably damaging	Het
Or4g17	A	G	2: 111,209,638 (GRCm39)	M98V	probably damaging	Het
Or5p60	T	C	7: 107,723,941 (GRCm39)	I176M	probably benign	Het
Or8g34	T	C	9: 39,372,828 (GRCm39)	F34L	probably damaging	Het
Oxsm	A	T	14: 16,240,893 (GRCm38)	H385Q	probably damaging	Het
Pbld2	T	C	10: 62,892,590 (GRCm39)	S242P	probably damaging	Het
Pdzd7	T	C	19: 45,017,744 (GRCm39)	Y675C	probably damaging	Het
Pnkd	T	A	1: 74,390,700 (GRCm39)	H266Q	probably damaging	Het
Rbfox2	A	G	15: 76,983,479 (GRCm39)	S141P	probably benign	Het
Rdx	A	G	9: 51,979,518 (GRCm39)	T214A	probably benign	Het
Ripor2	A	T	13: 24,864,627 (GRCm39)	E219V	probably damaging	Het
Rlig1	T	C	10: 100,422,065 (GRCm39)	T66A	probably damaging	Het
Rufy2	G	A	10: 62,847,623 (GRCm39)		probably benign	Het
Slf2	T	A	19: 44,964,165 (GRCm39)		probably benign	Het
Snrnp200	G	T	2: 127,068,065 (GRCm39)		probably benign	Het
Snx7	T	A	3: 117,623,320 (GRCm39)		probably benign	Het
Stt3a	T	C	9: 36,646,808 (GRCm39)	I602V	probably damaging	Het
Tacr3	G	A	3: 134,560,761 (GRCm39)		probably null	Het
Tcerg1	C	T	18: 42,704,905 (GRCm39)	T978M	probably damaging	Het
Tcf7l1	G	T	6: 72,765,252 (GRCm39)	P126Q	possibly damaging	Het
Trank1	A	G	9: 111,194,556 (GRCm39)	D860G	probably damaging	Het
Try4	T	C	6: 41,281,301 (GRCm39)	L81P	probably benign	Het
Ucp1	T	C	8: 84,024,476 (GRCm39)		probably benign	Het
Ugt2b38	G	A	5: 87,568,311 (GRCm39)	A328V	probably damaging	Het
Wfikkn1	T	A	17: 26,096,991 (GRCm39)	R444S	probably damaging	Het
Zfc3h1	A	G	10: 115,246,537 (GRCm39)	T875A	probably benign	Het
Zfp11	A	G	5: 129,734,328 (GRCm39)	S378P	probably damaging	Het
Zfp984	T	A	4: 147,840,689 (GRCm39)	N54I	probably damaging	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
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'- ACCTCAAGACTCAGATATTCCGGTCTC -3'
(R):5'- TAGGTATCATCAGGACAGCCCTTCCC -3'

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

Posted On

2013-09-03