Incidental Mutation 'R4271:Cdh11'
| ID |
322172 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh11
|
| Ensembl Gene |
ENSMUSG00000031673 |
| Gene Name |
cadherin 11 |
| Synonyms |
Cad11, osteoblast-cadherin, OB-cadherin |
| MMRRC Submission |
041076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4271 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
103358727-103512125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 103391258 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 326
(D326V)
|
| 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: D326V
PolyPhen 2
Score 0.688 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074681
Gene: ENSMUSG00000031673
AA Change: D326V
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
A |
G |
2: 103,856,549 (GRCm39) |
|
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,073,934 (GRCm39) |
|
probably null |
Het |
| Actr6 |
T |
A |
10: 89,553,101 (GRCm39) |
R252S |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
| B430203G13Rik |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
12: 17,974,358 (GRCm39) |
|
noncoding transcript |
Het |
| C1galt1 |
T |
C |
6: 7,866,607 (GRCm39) |
F151S |
probably damaging |
Het |
| C1qtnf6 |
G |
A |
15: 78,409,466 (GRCm39) |
T127I |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
| Cecr2 |
C |
T |
6: 120,739,436 (GRCm39) |
H1360Y |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,470,793 (GRCm39) |
E484G |
probably benign |
Het |
| Chml |
G |
A |
1: 175,515,360 (GRCm39) |
T187M |
probably benign |
Het |
| Chpt1 |
C |
T |
10: 88,317,214 (GRCm39) |
|
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,478,904 (GRCm39) |
V1483L |
possibly damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,528,849 (GRCm39) |
M244L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,335,783 (GRCm39) |
I59T |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,154,856 (GRCm39) |
F414L |
probably damaging |
Het |
| Gm1110 |
A |
T |
9: 26,806,944 (GRCm39) |
|
probably null |
Het |
| Gsap |
T |
C |
5: 21,431,348 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,510 (GRCm39) |
Y111C |
probably damaging |
Het |
| Hectd4 |
AGCGGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGGCGG |
5: 121,358,567 (GRCm39) |
|
probably benign |
Het |
| Kif12 |
T |
C |
4: 63,088,983 (GRCm39) |
Q146R |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
| Klhl15 |
AG |
A |
X: 93,296,718 (GRCm39) |
|
probably null |
Het |
| Lims1 |
T |
C |
10: 58,246,026 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,433,614 (GRCm39) |
D242G |
probably damaging |
Het |
| Oacyl |
T |
A |
18: 65,871,038 (GRCm39) |
L340Q |
probably damaging |
Het |
| Or4n4b |
A |
T |
14: 50,535,908 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5p80 |
T |
A |
7: 108,229,560 (GRCm39) |
Y120* |
probably null |
Het |
| Osbpl5 |
G |
T |
7: 143,249,339 (GRCm39) |
Y543* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,930,006 (GRCm39) |
E898K |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,570,825 (GRCm39) |
A1165V |
probably benign |
Het |
| Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,942,408 (GRCm39) |
D306G |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,116,003 (GRCm39) |
D713G |
possibly damaging |
Het |
| Smarca2 |
T |
A |
19: 26,698,349 (GRCm39) |
|
probably null |
Het |
| Spem2 |
T |
C |
11: 69,708,251 (GRCm39) |
Y238C |
probably damaging |
Het |
| Srpk2 |
T |
A |
5: 23,753,513 (GRCm39) |
H80L |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,162 (GRCm39) |
L365P |
probably damaging |
Het |
| Tsnax |
T |
C |
8: 125,759,468 (GRCm39) |
L243P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,731,979 (GRCm39) |
|
probably benign |
Het |
| V1rd19 |
A |
G |
7: 23,702,839 (GRCm39) |
T102A |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,463,940 (GRCm39) |
I783M |
probably damaging |
Het |
| Zeb1 |
C |
A |
18: 5,758,985 (GRCm39) |
Q148K |
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 |
|
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 |
|
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'- CTCAGAGTTCAAGCCTTAGCCAC -3'
(R):5'- GAAATCTGAAGTCTTACAGCTGCC -3'
Sequencing Primer
(F):5'- GAGTTCAAGCCTTAGCCACAAATTG -3'
(R):5'- GTCTTACAGCTGCCAAATAAAAAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation