Incidental Mutation 'R5441:Cdh11'
| ID |
427181 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdh11
|
| Ensembl Gene |
ENSMUSG00000031673 |
| Gene Name |
cadherin 11 |
| Synonyms |
Cad11, osteoblast-cadherin, OB-cadherin |
| MMRRC Submission |
043006-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
103358727-103512125 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 103374178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 520
(D520G)
|
| 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 benign
Transcript: ENSMUST00000075190
AA Change: D520G
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000074681
Gene: ENSMUSG00000031673
AA Change: D520G
| 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 |
|
| Meta Mutation Damage Score |
0.1637 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.1%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,334,215 (GRCm39) |
Y1096H |
probably damaging |
Het |
| Aspa |
A |
T |
11: 73,196,420 (GRCm39) |
F261I |
probably damaging |
Het |
| Atm |
C |
A |
9: 53,427,767 (GRCm39) |
G448* |
probably null |
Het |
| Atmin |
T |
A |
8: 117,684,696 (GRCm39) |
D785E |
probably damaging |
Het |
| Car1 |
G |
C |
3: 14,841,364 (GRCm39) |
R90G |
probably damaging |
Het |
| Cers5 |
T |
A |
15: 99,649,119 (GRCm39) |
K50* |
probably null |
Het |
| Chad |
A |
T |
11: 94,459,118 (GRCm39) |
D340V |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,075,711 (GRCm39) |
I68T |
probably benign |
Het |
| Fcgbpl1 |
C |
T |
7: 27,856,339 (GRCm39) |
T2042M |
probably damaging |
Het |
| Fcrla |
T |
A |
1: 170,752,991 (GRCm39) |
|
probably benign |
Het |
| Fer1l4 |
T |
A |
2: 155,865,177 (GRCm39) |
D1608V |
probably benign |
Het |
| Fzd5 |
T |
A |
1: 64,774,576 (GRCm39) |
Q395L |
probably benign |
Het |
| Gm7664 |
T |
A |
13: 62,676,464 (GRCm39) |
|
probably benign |
Het |
| Hk3 |
T |
C |
13: 55,162,869 (GRCm39) |
E2G |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,296,428 (GRCm39) |
E2677K |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,291,741 (GRCm39) |
L3411P |
possibly damaging |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Lysmd2 |
C |
T |
9: 75,533,254 (GRCm39) |
H70Y |
possibly damaging |
Het |
| Msi2 |
A |
G |
11: 88,370,818 (GRCm39) |
|
probably benign |
Het |
| Msi2 |
G |
A |
11: 88,608,921 (GRCm39) |
|
probably benign |
Het |
| Napsa |
T |
A |
7: 44,230,817 (GRCm39) |
|
probably benign |
Het |
| Nlrp4a |
T |
A |
7: 26,153,578 (GRCm39) |
L710M |
probably damaging |
Het |
| Or10g1 |
T |
A |
14: 52,647,414 (GRCm39) |
K305M |
probably benign |
Het |
| Or12d13 |
T |
C |
17: 37,647,159 (GRCm39) |
|
probably null |
Het |
| Or5m13 |
T |
A |
2: 85,748,934 (GRCm39) |
F222I |
probably benign |
Het |
| Or6ae1 |
T |
C |
7: 139,742,564 (GRCm39) |
T100A |
probably benign |
Het |
| Or9a2 |
C |
T |
6: 41,748,782 (GRCm39) |
M150I |
probably benign |
Het |
| Plbd2 |
T |
A |
5: 120,637,147 (GRCm39) |
Y105F |
probably benign |
Het |
| Plppr5 |
A |
T |
3: 117,456,120 (GRCm39) |
I214F |
possibly damaging |
Het |
| Pramel34 |
A |
T |
5: 93,784,456 (GRCm39) |
M139K |
possibly damaging |
Het |
| Ptcd3 |
A |
G |
6: 71,858,505 (GRCm39) |
V655A |
possibly damaging |
Het |
| Ptpn14 |
T |
C |
1: 189,530,767 (GRCm39) |
L78P |
probably damaging |
Het |
| Ralgapa1 |
A |
C |
12: 55,766,408 (GRCm39) |
D1295E |
probably damaging |
Het |
| Rnf213 |
G |
A |
11: 119,299,846 (GRCm39) |
D192N |
probably damaging |
Het |
| Ropn1 |
A |
G |
16: 34,487,167 (GRCm39) |
I34M |
probably damaging |
Het |
| Rpe65 |
G |
T |
3: 159,310,038 (GRCm39) |
G104C |
probably damaging |
Het |
| Scgb2b27 |
T |
C |
7: 33,712,582 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
T |
C |
16: 96,007,117 (GRCm39) |
I29T |
possibly damaging |
Het |
| Smg1 |
T |
C |
7: 117,794,304 (GRCm39) |
|
probably benign |
Het |
| Stim2 |
T |
A |
5: 54,232,712 (GRCm39) |
C68* |
probably null |
Het |
| Syne2 |
G |
A |
12: 76,035,917 (GRCm39) |
V3736I |
possibly damaging |
Het |
| Tbx19 |
T |
C |
1: 164,981,249 (GRCm39) |
N82D |
probably damaging |
Het |
| Tdp1 |
T |
A |
12: 99,876,544 (GRCm39) |
V353D |
probably damaging |
Het |
| Tg |
T |
A |
15: 66,568,369 (GRCm39) |
I1352K |
possibly damaging |
Het |
| Thsd4 |
T |
C |
9: 59,887,066 (GRCm39) |
T919A |
probably damaging |
Het |
| Tmprss11f |
A |
T |
5: 86,676,062 (GRCm39) |
M373K |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,868,335 (GRCm39) |
|
probably null |
Het |
| Tpd52 |
A |
T |
3: 9,068,466 (GRCm39) |
Y16* |
probably null |
Het |
| Ube2o |
G |
A |
11: 116,435,268 (GRCm39) |
R507C |
probably damaging |
Het |
| Unc93b1 |
T |
C |
19: 3,993,703 (GRCm39) |
F382L |
probably benign |
Het |
| Vav2 |
A |
T |
2: 27,160,122 (GRCm39) |
|
probably benign |
Het |
| Vmn1r207 |
T |
C |
13: 22,910,686 (GRCm39) |
|
noncoding transcript |
Het |
| Zan |
T |
A |
5: 137,435,013 (GRCm39) |
I2127F |
unknown |
Het |
| Zfp748 |
C |
A |
13: 67,688,737 (GRCm39) |
C841F |
probably damaging |
Het |
| Zic4 |
C |
A |
9: 91,266,253 (GRCm39) |
P299Q |
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 |
|
|
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 |
|
|
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'- AGCGAAAATATTTGTGCTGTGG -3'
(R):5'- TAAGGCTAGCTTCTCCTGCC -3'
Sequencing Primer
(F):5'- AGGAGCTATGGTACAAACC -3'
(R):5'- TGCCCTGACCATAAGCAATG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation