Incidental Mutation 'R5558:Pcdh10'
| ID |
436387 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh10
|
| Ensembl Gene |
ENSMUSG00000049100 |
| Gene Name |
protocadherin 10 |
| Synonyms |
Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik |
| MMRRC Submission |
043115-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R5558 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
45332833-45389014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45338603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 920
(D920G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166126]
[ENSMUST00000170695]
[ENSMUST00000171554]
[ENSMUST00000193252]
|
| AlphaFold |
E9PXQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166126
AA Change: D920G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: D920G
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
34 |
120 |
1.64e-2 |
SMART |
|
CA
|
144 |
248 |
1.46e-12 |
SMART |
|
CA
|
272 |
356 |
2.88e-25 |
SMART |
|
CA
|
380 |
461 |
1.9e-25 |
SMART |
|
CA
|
485 |
572 |
1.8e-26 |
SMART |
|
CA
|
603 |
686 |
8.29e-17 |
SMART |
|
low complexity region
|
687 |
697 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_C_2
|
713 |
838 |
5e-23 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170695
AA Change: D920G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: D920G
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
34 |
120 |
1.64e-2 |
SMART |
|
CA
|
144 |
248 |
1.46e-12 |
SMART |
|
CA
|
272 |
356 |
2.88e-25 |
SMART |
|
CA
|
380 |
461 |
1.9e-25 |
SMART |
|
CA
|
485 |
572 |
1.8e-26 |
SMART |
|
CA
|
603 |
686 |
8.29e-17 |
SMART |
|
low complexity region
|
687 |
697 |
N/A |
INTRINSIC |
|
transmembrane domain
|
716 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
772 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171554
AA Change: D920G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: D920G
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
34 |
120 |
1.64e-2 |
SMART |
|
CA
|
144 |
248 |
1.46e-12 |
SMART |
|
CA
|
272 |
356 |
2.88e-25 |
SMART |
|
CA
|
380 |
461 |
1.9e-25 |
SMART |
|
CA
|
485 |
572 |
1.8e-26 |
SMART |
|
CA
|
603 |
686 |
8.29e-17 |
SMART |
|
low complexity region
|
687 |
697 |
N/A |
INTRINSIC |
|
transmembrane domain
|
716 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
772 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193252
|
| SMART Domains |
Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
34 |
120 |
1.64e-2 |
SMART |
|
CA
|
144 |
248 |
1.46e-12 |
SMART |
|
CA
|
272 |
356 |
2.88e-25 |
SMART |
|
CA
|
380 |
461 |
1.9e-25 |
SMART |
|
CA
|
485 |
572 |
1.8e-26 |
SMART |
|
CA
|
603 |
686 |
8.29e-17 |
SMART |
|
low complexity region
|
687 |
697 |
N/A |
INTRINSIC |
|
transmembrane domain
|
716 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
772 |
N/A |
INTRINSIC |
|
low complexity region
|
887 |
896 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195655
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a reporter allele die within several weeks of birth and exhibit decreased body size and defective striatal axon growth and thalamocortical projections in the ventral telencephalon. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
T |
C |
9: 44,192,705 (GRCm39) |
K177E |
probably damaging |
Het |
| Acvr1 |
T |
C |
2: 58,349,029 (GRCm39) |
T378A |
probably damaging |
Het |
| Agtpbp1 |
A |
G |
13: 59,630,394 (GRCm39) |
V779A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,618,311 (GRCm39) |
Q2786* |
probably null |
Het |
| Arhgef28 |
A |
C |
13: 98,097,968 (GRCm39) |
L882R |
probably damaging |
Het |
| Cbx2 |
A |
G |
11: 118,919,775 (GRCm39) |
T447A |
probably benign |
Het |
| Ch25h |
A |
G |
19: 34,451,863 (GRCm39) |
W222R |
probably damaging |
Het |
| Chsy3 |
T |
G |
18: 59,309,469 (GRCm39) |
S241A |
probably damaging |
Het |
| Cyfip1 |
T |
C |
7: 55,541,749 (GRCm39) |
S345P |
possibly damaging |
Het |
| Cyp4a30b |
C |
A |
4: 115,316,063 (GRCm39) |
D291E |
probably damaging |
Het |
| Dcstamp |
A |
G |
15: 39,622,936 (GRCm39) |
Y419C |
probably damaging |
Het |
| Eif3d |
G |
A |
15: 77,846,047 (GRCm39) |
R359C |
probably damaging |
Het |
| Elavl4 |
C |
A |
4: 110,063,800 (GRCm39) |
G267V |
probably benign |
Het |
| Gars1 |
T |
C |
6: 55,042,592 (GRCm39) |
S442P |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,516,764 (GRCm39) |
R578Q |
probably null |
Het |
| H4c4 |
C |
A |
13: 23,765,779 (GRCm39) |
N65K |
possibly damaging |
Het |
| Ifitm6 |
T |
C |
7: 140,595,985 (GRCm39) |
I103V |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,187,731 (GRCm39) |
I241N |
possibly damaging |
Het |
| Iqce |
A |
G |
5: 140,657,560 (GRCm39) |
|
probably null |
Het |
| Khdc4 |
A |
C |
3: 88,600,403 (GRCm39) |
H164P |
probably damaging |
Het |
| Kif20b |
C |
A |
19: 34,928,949 (GRCm39) |
Q1192K |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,662,093 (GRCm39) |
N298D |
probably benign |
Het |
| Lca5 |
A |
T |
9: 83,283,796 (GRCm39) |
S246T |
probably damaging |
Het |
| Mrps5 |
G |
A |
2: 127,444,355 (GRCm39) |
G330S |
probably damaging |
Het |
| Myh15 |
C |
T |
16: 48,889,900 (GRCm39) |
R164C |
probably benign |
Het |
| Myo19 |
C |
G |
11: 84,801,274 (GRCm39) |
P940R |
probably damaging |
Het |
| Or10j7 |
T |
C |
1: 173,011,585 (GRCm39) |
R139G |
probably benign |
Het |
| Or5b12b |
T |
C |
19: 12,861,751 (GRCm39) |
F169L |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,801,815 (GRCm39) |
|
probably null |
Het |
| Phactr4 |
T |
C |
4: 132,105,766 (GRCm39) |
E137G |
probably damaging |
Het |
| Pkn1 |
C |
T |
8: 84,411,351 (GRCm39) |
V239M |
probably damaging |
Het |
| Plcz1 |
T |
A |
6: 139,985,481 (GRCm39) |
D20V |
probably damaging |
Het |
| Prkca |
A |
T |
11: 107,872,473 (GRCm39) |
I429N |
probably damaging |
Het |
| Ptk2 |
A |
T |
15: 73,176,294 (GRCm39) |
Y251N |
probably damaging |
Het |
| R3hdm2 |
T |
C |
10: 127,280,271 (GRCm39) |
F31S |
probably damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,642,003 (GRCm39) |
E932V |
probably damaging |
Het |
| Rilp |
A |
G |
11: 75,402,251 (GRCm39) |
Y250C |
probably damaging |
Het |
| Sclt1 |
A |
G |
3: 41,616,025 (GRCm39) |
I474T |
probably benign |
Het |
| Slc14a2 |
T |
A |
18: 78,202,381 (GRCm39) |
D583V |
possibly damaging |
Het |
| Slc30a4 |
A |
G |
2: 122,528,903 (GRCm39) |
I324T |
probably damaging |
Het |
| Slc6a5 |
G |
A |
7: 49,577,321 (GRCm39) |
V326I |
probably benign |
Het |
| Slco1c1 |
C |
T |
6: 141,513,222 (GRCm39) |
T617I |
probably damaging |
Het |
| Sntg1 |
A |
G |
1: 8,484,495 (GRCm39) |
S442P |
possibly damaging |
Het |
| Sys1 |
G |
T |
2: 164,306,429 (GRCm39) |
A128S |
possibly damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
| Tmed5 |
A |
G |
5: 108,272,462 (GRCm39) |
I212T |
probably benign |
Het |
| Tnks |
T |
C |
8: 35,432,819 (GRCm39) |
M1V |
probably null |
Het |
| Trpa1 |
T |
C |
1: 14,968,492 (GRCm39) |
H452R |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,955,937 (GRCm39) |
V1133A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,555,395 (GRCm39) |
I30537F |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,530,024 (GRCm39) |
V3271A |
possibly damaging |
Het |
| Utp20 |
C |
G |
10: 88,587,329 (GRCm39) |
G2489R |
probably damaging |
Het |
| Vmn1r70 |
A |
T |
7: 10,368,402 (GRCm39) |
S278C |
probably benign |
Het |
| Wdpcp |
G |
A |
11: 21,661,732 (GRCm39) |
A335T |
probably benign |
Het |
| Zc3h18 |
G |
T |
8: 123,113,659 (GRCm39) |
R217L |
probably damaging |
Het |
| Zfp384 |
ACAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGC |
6: 125,013,472 (GRCm39) |
|
probably benign |
Het |
| Zfp955b |
C |
T |
17: 33,521,161 (GRCm39) |
T210I |
possibly damaging |
Het |
|
| Other mutations in Pcdh10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00863:Pcdh10
|
APN |
3 |
45,334,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01115:Pcdh10
|
APN |
3 |
45,347,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01535:Pcdh10
|
APN |
3 |
45,334,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01600:Pcdh10
|
APN |
3 |
45,333,922 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01625:Pcdh10
|
APN |
3 |
45,333,832 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01966:Pcdh10
|
APN |
3 |
45,334,733 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02232:Pcdh10
|
APN |
3 |
45,335,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02490:Pcdh10
|
APN |
3 |
45,334,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02890:Pcdh10
|
APN |
3 |
45,347,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02976:Pcdh10
|
APN |
3 |
45,334,448 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02997:Pcdh10
|
APN |
3 |
45,333,797 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03006:Pcdh10
|
APN |
3 |
45,333,937 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03385:Pcdh10
|
APN |
3 |
45,335,947 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0025:Pcdh10
|
UTSW |
3 |
45,334,934 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0157:Pcdh10
|
UTSW |
3 |
45,334,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0372:Pcdh10
|
UTSW |
3 |
45,333,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0652:Pcdh10
|
UTSW |
3 |
45,334,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0760:Pcdh10
|
UTSW |
3 |
45,335,005 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0976:Pcdh10
|
UTSW |
3 |
45,335,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1307:Pcdh10
|
UTSW |
3 |
45,336,314 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1466:Pcdh10
|
UTSW |
3 |
45,334,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Pcdh10
|
UTSW |
3 |
45,334,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1510:Pcdh10
|
UTSW |
3 |
45,333,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Pcdh10
|
UTSW |
3 |
45,334,747 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1678:Pcdh10
|
UTSW |
3 |
45,336,316 (GRCm39) |
nonsense |
probably null |
|
|
R1687:Pcdh10
|
UTSW |
3 |
45,334,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1750:Pcdh10
|
UTSW |
3 |
45,336,316 (GRCm39) |
nonsense |
probably null |
|
|
R1751:Pcdh10
|
UTSW |
3 |
45,338,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Pcdh10
|
UTSW |
3 |
45,338,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Pcdh10
|
UTSW |
3 |
45,334,372 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2086:Pcdh10
|
UTSW |
3 |
45,334,906 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3960:Pcdh10
|
UTSW |
3 |
45,333,749 (GRCm39) |
missense |
probably benign |
|
|
R4083:Pcdh10
|
UTSW |
3 |
45,347,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4084:Pcdh10
|
UTSW |
3 |
45,347,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4112:Pcdh10
|
UTSW |
3 |
45,336,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Pcdh10
|
UTSW |
3 |
45,335,072 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4946:Pcdh10
|
UTSW |
3 |
45,333,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5039:Pcdh10
|
UTSW |
3 |
45,336,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5224:Pcdh10
|
UTSW |
3 |
45,347,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5233:Pcdh10
|
UTSW |
3 |
45,338,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5261:Pcdh10
|
UTSW |
3 |
45,336,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5429:Pcdh10
|
UTSW |
3 |
45,338,635 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5488:Pcdh10
|
UTSW |
3 |
45,335,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Pcdh10
|
UTSW |
3 |
45,335,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5815:Pcdh10
|
UTSW |
3 |
45,347,156 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6283:Pcdh10
|
UTSW |
3 |
45,335,989 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6396:Pcdh10
|
UTSW |
3 |
45,334,495 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6703:Pcdh10
|
UTSW |
3 |
45,335,734 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6756:Pcdh10
|
UTSW |
3 |
45,334,541 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6968:Pcdh10
|
UTSW |
3 |
45,333,977 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7463:Pcdh10
|
UTSW |
3 |
45,338,007 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7574:Pcdh10
|
UTSW |
3 |
45,335,810 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7691:Pcdh10
|
UTSW |
3 |
45,335,632 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Pcdh10
|
UTSW |
3 |
45,334,657 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8057:Pcdh10
|
UTSW |
3 |
45,333,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8082:Pcdh10
|
UTSW |
3 |
45,336,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8302:Pcdh10
|
UTSW |
3 |
45,335,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8411:Pcdh10
|
UTSW |
3 |
45,333,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8555:Pcdh10
|
UTSW |
3 |
45,334,030 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8765:Pcdh10
|
UTSW |
3 |
45,333,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Pcdh10
|
UTSW |
3 |
45,338,620 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9146:Pcdh10
|
UTSW |
3 |
45,334,351 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9306:Pcdh10
|
UTSW |
3 |
45,335,804 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9330:Pcdh10
|
UTSW |
3 |
45,335,618 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9714:Pcdh10
|
UTSW |
3 |
45,336,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0013:Pcdh10
|
UTSW |
3 |
45,334,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Pcdh10
|
UTSW |
3 |
45,336,164 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGAGTCTGCAGCACACATTAG -3'
(R):5'- GCATGGTGTTTAGATTCTAGAGTACAG -3'
Sequencing Primer
(F):5'- ATTAGTGACCATGTGGTGG -3'
(R):5'- TCTAGAGTACAGTTCTAACCTCAAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation