Incidental Mutation 'R4516:Cdh11'
| ID |
332919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh11
|
| Ensembl Gene |
ENSMUSG00000031673 |
| Gene Name |
cadherin 11 |
| Synonyms |
Cad11, osteoblast-cadherin, OB-cadherin |
| MMRRC Submission |
041760-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4516 (G1)
|
| Quality Score |
216 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
103358727-103512125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103400594 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 125
(T125A)
|
| 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: T125A
PolyPhen 2
Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000074681
Gene: ENSMUSG00000031673
AA Change: T125A
| 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 |
0.1509 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.9%
|
| Validation Efficiency |
86% (51/59) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bean1 |
T |
C |
8: 104,941,786 (GRCm39) |
S211P |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,949,460 (GRCm39) |
S369P |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,177 (GRCm39) |
S552P |
possibly damaging |
Het |
| Cdk5rap2 |
A |
T |
4: 70,194,952 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
G |
5: 86,195,446 (GRCm39) |
S108P |
possibly damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,536,609 (GRCm38) |
D199E |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,294,227 (GRCm39) |
Y224* |
probably null |
Het |
| Cfap46 |
G |
A |
7: 139,239,998 (GRCm39) |
|
probably benign |
Het |
| Cntrl |
G |
A |
2: 35,017,993 (GRCm39) |
V468I |
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,576,148 (GRCm39) |
V2071I |
possibly damaging |
Het |
| Coq7 |
A |
T |
7: 118,109,130 (GRCm39) |
L306Q |
unknown |
Het |
| D7Ertd443e |
C |
G |
7: 133,895,057 (GRCm39) |
Q591H |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,404,059 (GRCm39) |
V2828M |
probably damaging |
Het |
| Dzank1 |
T |
A |
2: 144,352,042 (GRCm39) |
|
probably benign |
Het |
| Elmo1 |
C |
T |
13: 20,467,084 (GRCm39) |
T235I |
probably benign |
Het |
| Elp3 |
A |
T |
14: 65,785,326 (GRCm39) |
F492I |
possibly damaging |
Het |
| Espl1 |
A |
G |
15: 102,231,671 (GRCm39) |
S90G |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 97,986,061 (GRCm39) |
|
probably benign |
Het |
| Gm10722 |
T |
C |
9: 3,000,937 (GRCm39) |
C6R |
probably benign |
Het |
| Got1 |
T |
C |
19: 43,493,280 (GRCm39) |
Y243C |
probably damaging |
Het |
| Hipk1 |
G |
T |
3: 103,657,688 (GRCm39) |
H799N |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,855,345 (GRCm39) |
M673K |
probably benign |
Het |
| Lama3 |
T |
A |
18: 12,628,415 (GRCm39) |
D1502E |
probably damaging |
Het |
| Limk1 |
A |
G |
5: 134,705,640 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
A |
G |
18: 74,758,745 (GRCm39) |
Y242C |
probably damaging |
Het |
| Naa12 |
G |
A |
18: 80,254,791 (GRCm39) |
M28I |
probably benign |
Het |
| Ncbp1 |
T |
C |
4: 46,157,824 (GRCm39) |
V354A |
probably damaging |
Het |
| Ncoa2 |
T |
C |
1: 13,217,130 (GRCm39) |
D1380G |
probably damaging |
Het |
| Ntng1 |
A |
G |
3: 109,842,329 (GRCm39) |
I148T |
probably damaging |
Het |
| Oas1d |
A |
T |
5: 121,057,233 (GRCm39) |
T280S |
probably damaging |
Het |
| Or1e29 |
C |
T |
11: 73,667,866 (GRCm39) |
G96S |
probably benign |
Het |
| Or4c15b |
T |
A |
2: 89,113,187 (GRCm39) |
M118L |
probably benign |
Het |
| Pax7 |
T |
G |
4: 139,508,104 (GRCm39) |
D307A |
probably benign |
Het |
| Pdxdc1 |
G |
A |
16: 13,656,210 (GRCm39) |
Q621* |
probably null |
Het |
| Rab29 |
A |
T |
1: 131,795,469 (GRCm39) |
Y27F |
possibly damaging |
Het |
| Rab3gap2 |
G |
A |
1: 184,999,265 (GRCm39) |
V991I |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,548,165 (GRCm39) |
T278A |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc47a1 |
T |
C |
11: 61,235,339 (GRCm39) |
H498R |
probably benign |
Het |
| Spmip6 |
T |
C |
4: 41,517,200 (GRCm39) |
|
probably benign |
Het |
| Tas2r116 |
T |
C |
6: 132,833,113 (GRCm39) |
L238P |
probably damaging |
Het |
| Tigd5 |
A |
T |
15: 75,782,364 (GRCm39) |
R252* |
probably null |
Het |
| Tlr6 |
A |
G |
5: 65,112,247 (GRCm39) |
F220S |
possibly damaging |
Het |
| Tmem106b |
C |
T |
6: 13,075,098 (GRCm39) |
T95I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vmn1r174 |
A |
G |
7: 23,453,768 (GRCm39) |
I145V |
probably benign |
Het |
| Vps26a |
T |
C |
10: 62,304,124 (GRCm39) |
M116V |
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 |
|
R4271:Cdh11
|
UTSW |
8 |
103,391,258 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4455:Cdh11
|
UTSW |
8 |
103,374,455 (GRCm39) |
missense |
probably benign |
|
|
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'- GGTGACCATTACTTACGTACCC -3'
(R):5'- GTGACTGTATGTATGTGCACAC -3'
Sequencing Primer
(F):5'- GTACCCACATTGGACCTCTCAGG -3'
(R):5'- GTTCCTCATGAAATTACAAATCCTGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation