Mutagenetix > Incidental Mutation

Incidental Mutation 'R9404:Cdh11'

711412

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 #

R9404 (G1)

Quality Score

210.009

Status

Not validated

Chromosome

Chromosomal Location

103358727-103512125 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103406254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 73 (L73Q)

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: L73Q

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

SMART Domains

Protein: ENSMUSP00000074681
Gene: ENSMUSG00000031673
AA Change: L73Q

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: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	T	C	4: 106,615,509 (GRCm39)	K314R	possibly damaging	Het
Armt1	AC	A	10: 4,400,848 (GRCm39)		probably null	Het
Atad5	T	C	11: 80,005,064 (GRCm39)	V1167A	probably damaging	Het
Bbs12	T	C	3: 37,373,557 (GRCm39)	S2P	probably damaging	Het
Cdk15	A	G	1: 59,328,914 (GRCm39)	E274G	possibly damaging	Het
Col27a1	T	C	4: 63,194,178 (GRCm39)	V845A	possibly damaging	Het
Cyp3a11	T	C	5: 145,799,258 (GRCm39)	T310A	probably benign	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Ewsr1	A	G	11: 5,022,940 (GRCm39)	M388T	unknown	Het
Fat2	A	G	11: 55,144,348 (GRCm39)		probably null	Het
Gm8225	T	A	17: 26,762,034 (GRCm39)	I75N	probably damaging	Het
Gsap	A	G	5: 21,474,919 (GRCm39)	Y526C	probably damaging	Het
Hk1	T	A	10: 62,131,859 (GRCm39)	I203F	possibly damaging	Het
Insl5	T	C	4: 102,875,535 (GRCm39)	R72G	probably benign	Het
Iqcb1	T	C	16: 36,671,632 (GRCm39)	V321A	probably damaging	Het
Iqcd	A	C	5: 120,738,601 (GRCm39)	T140P		Het
Kcnt2	T	A	1: 140,353,107 (GRCm39)	I272K	probably damaging	Het
Klhl25	A	C	7: 75,515,153 (GRCm39)	I20L	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Lrba	T	C	3: 86,205,224 (GRCm39)	V356A	probably damaging	Het
Mast4	A	G	13: 102,887,933 (GRCm39)	Y1159H	probably damaging	Het
Mavs	T	A	2: 131,083,818 (GRCm39)	L105Q	probably damaging	Het
Megf6	T	A	4: 154,348,225 (GRCm39)	C902S		Het
Mmp17	A	G	5: 129,682,741 (GRCm39)	D460G	possibly damaging	Het
Myh2	G	T	11: 67,070,454 (GRCm39)	A466S	probably damaging	Het
Neb	T	C	2: 52,147,788 (GRCm39)	N2744D	probably damaging	Het
Oga	CTCGGGTC	CTC	19: 45,743,096 (GRCm39)		probably null	Het
Or13a26	T	A	7: 140,284,722 (GRCm39)	L186H	probably damaging	Het
Or2a12	T	C	6: 42,904,750 (GRCm39)	V195A	probably benign	Het
Or2aj4	C	T	16: 19,384,731 (GRCm39)	V301M	probably benign	Het
Or4a27	T	A	2: 88,559,551 (GRCm39)	M131L	probably benign	Het
Or6d13	T	G	6: 116,517,708 (GRCm39)	I98S	probably damaging	Het
Or8g55	A	T	9: 39,784,708 (GRCm39)	I46F	possibly damaging	Het
Parpbp	A	G	10: 87,950,411 (GRCm39)	V323A	possibly damaging	Het
Pax5	G	A	4: 44,645,565 (GRCm39)	P255S	possibly damaging	Het
Pcdhga2	A	G	18: 37,803,067 (GRCm39)	T304A	probably benign	Het
Pcsk1	T	G	13: 75,280,342 (GRCm39)	S722R	probably benign	Het
Pcsk9	C	A	4: 106,311,723 (GRCm39)	R218L	probably damaging	Het
Pds5a	T	A	5: 65,776,307 (GRCm39)	I96F	probably damaging	Het
Pkdrej	C	A	15: 85,703,270 (GRCm39)	V889L	probably benign	Het
Plekhh2	A	T	17: 84,878,468 (GRCm39)		probably null	Het
Pnn	A	G	12: 59,118,758 (GRCm39)	E447G	probably damaging	Het
Ppp2r3d	A	G	9: 101,025,840 (GRCm39)	L289P	probably damaging	Het
Ppp6r2	A	G	15: 89,152,753 (GRCm39)	H298R	probably benign	Het
Ptpn23	T	C	9: 110,216,025 (GRCm39)	N1277S		Het
Pus10	T	A	11: 23,661,202 (GRCm39)	F263L	possibly damaging	Het
Rexo5	A	G	7: 119,400,542 (GRCm39)	Y109C	probably damaging	Het
Rnf185	A	T	11: 3,382,615 (GRCm39)	C23*	probably null	Het
Runx1	T	C	16: 92,485,915 (GRCm39)	N140D	probably benign	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn9a	G	A	2: 66,357,040 (GRCm39)	T1087I	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Sh2b1	TC	TCAGCCACGGGGACCAGCCC	7: 126,066,771 (GRCm39)		probably benign	Het
Slc7a11	T	C	3: 50,335,488 (GRCm39)	H350R	possibly damaging	Het
Spaca6	T	C	17: 18,057,800 (GRCm39)	C155R	probably damaging	Het
Spire2	C	T	8: 124,090,077 (GRCm39)	R580*	probably null	Het
Srgap3	A	T	6: 112,706,616 (GRCm39)	M851K	probably benign	Het
Themis	A	G	10: 28,665,743 (GRCm39)	D602G	probably benign	Het
Tlcd4	T	C	3: 121,028,731 (GRCm39)	N52S	probably benign	Het
Trak2	T	C	1: 58,960,296 (GRCm39)	T236A	possibly damaging	Het
Trrap	T	C	5: 144,752,225 (GRCm39)	C1709R	possibly damaging	Het
Ttn	A	T	2: 76,584,500 (GRCm39)	S22203T	probably damaging	Het
Tut7	A	T	13: 59,947,701 (GRCm39)	N873K	probably benign	Het
Ube3a	A	G	7: 58,936,763 (GRCm39)	T701A	probably damaging	Het
Ufl1	T	C	4: 25,275,912 (GRCm39)	I164V	probably benign	Het
Vcpip1	T	C	1: 9,817,856 (GRCm39)	T176A	probably damaging	Het
Virma	T	A	4: 11,513,626 (GRCm39)	D493E	probably benign	Het
Vmn2r77	T	A	7: 86,451,247 (GRCm39)	W378R	probably benign	Het
Vps13b	A	T	15: 35,876,565 (GRCm39)	T2799S	probably damaging	Het
Vps8	T	C	16: 21,426,927 (GRCm39)	S1337P	probably benign	Het
Zfp235	A	T	7: 23,839,862 (GRCm39)	I94F	possibly damaging	Het
Zfp3	A	G	11: 70,663,366 (GRCm39)	K442E	probably damaging	Het
Zfp418	A	T	7: 7,185,104 (GRCm39)	I356F	possibly damaging	Het
Zfp790	G	A	7: 29,525,185 (GRCm39)	G68S	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
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'- ACATTAGAAGCATTCTCAGTGTGG -3'
(R):5'- ATGCTATACCACAGCCAGGC -3'

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

Posted On

2022-05-16