Incidental Mutation 'R5233:Pcdh10'
| ID |
398083 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh10
|
| Ensembl Gene |
ENSMUSG00000049100 |
| Gene Name |
protocadherin 10 |
| Synonyms |
Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik |
| MMRRC Submission |
042805-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R5233 (G1)
|
| Quality Score |
117 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
45332833-45389014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 45338626 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 928
(R928S)
|
| 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: R928S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: R928S
| 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: R928S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: R928S
| 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: R928S
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: R928S
| 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
|
| Meta Mutation Damage Score |
0.1165 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
100% (56/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030619P08Rik |
T |
A |
15: 75,301,801 (GRCm39) |
|
noncoding transcript |
Het |
| Aadat |
A |
G |
8: 60,979,656 (GRCm39) |
I173V |
probably benign |
Het |
| Acsl6 |
G |
A |
11: 54,216,432 (GRCm39) |
V200I |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,633,353 (GRCm39) |
|
probably null |
Het |
| Arhgef17 |
A |
T |
7: 100,530,576 (GRCm39) |
D1403E |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,121,387 (GRCm39) |
T1017A |
probably benign |
Het |
| Capg |
C |
T |
6: 72,532,509 (GRCm39) |
R25C |
probably damaging |
Het |
| Cd22 |
A |
G |
7: 30,576,959 (GRCm39) |
I116T |
probably damaging |
Het |
| Cep135 |
AGTCTGCCTTTGG |
A |
5: 76,739,690 (GRCm39) |
|
probably benign |
Het |
| Ciita |
A |
T |
16: 10,327,265 (GRCm39) |
I277F |
possibly damaging |
Het |
| Col15a1 |
T |
C |
4: 47,296,112 (GRCm39) |
V943A |
possibly damaging |
Het |
| Coq2 |
G |
A |
5: 100,805,698 (GRCm39) |
H313Y |
possibly damaging |
Het |
| Csn3 |
C |
T |
5: 88,077,694 (GRCm39) |
P67S |
probably benign |
Het |
| Csrnp3 |
A |
G |
2: 65,852,684 (GRCm39) |
T359A |
possibly damaging |
Het |
| Cttnbp2nl |
A |
G |
3: 104,912,357 (GRCm39) |
L509P |
probably damaging |
Het |
| Dclk3 |
A |
G |
9: 111,297,749 (GRCm39) |
D431G |
probably benign |
Het |
| Dtx3l |
A |
T |
16: 35,753,608 (GRCm39) |
C333S |
possibly damaging |
Het |
| Ear-ps2 |
G |
A |
14: 44,284,517 (GRCm39) |
|
noncoding transcript |
Het |
| Fam171a1 |
G |
C |
2: 3,179,390 (GRCm39) |
G72A |
probably damaging |
Het |
| Fbxw17 |
T |
C |
13: 50,586,390 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
G |
5: 150,393,185 (GRCm39) |
D605G |
possibly damaging |
Het |
| Fyn |
T |
C |
10: 39,405,936 (GRCm39) |
F240S |
probably benign |
Het |
| Gcfc2 |
T |
C |
6: 81,930,271 (GRCm39) |
L646P |
probably damaging |
Het |
| Gm5087 |
C |
T |
14: 13,158,788 (GRCm38) |
|
noncoding transcript |
Het |
| Got2 |
T |
A |
8: 96,602,477 (GRCm39) |
N91I |
probably benign |
Het |
| Hspa4 |
C |
T |
11: 53,177,802 (GRCm39) |
V103I |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,792,600 (GRCm39) |
|
probably null |
Het |
| Krt33a |
A |
G |
11: 99,904,961 (GRCm39) |
S182P |
probably damaging |
Het |
| Mcph1 |
T |
C |
8: 18,721,254 (GRCm39) |
I694T |
probably damaging |
Het |
| Mmp15 |
T |
C |
8: 96,097,696 (GRCm39) |
V502A |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,867,235 (GRCm39) |
V23A |
probably benign |
Het |
| Myo9a |
T |
A |
9: 59,817,900 (GRCm39) |
N2322K |
probably damaging |
Het |
| Ndst4 |
A |
G |
3: 125,503,766 (GRCm39) |
Y11C |
probably damaging |
Het |
| Nell1 |
T |
C |
7: 49,826,062 (GRCm39) |
F199S |
probably damaging |
Het |
| Nup210 |
C |
T |
6: 91,003,951 (GRCm39) |
V646M |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,845,029 (GRCm39) |
S13R |
unknown |
Het |
| Nxf1 |
T |
C |
19: 8,741,293 (GRCm39) |
I54T |
possibly damaging |
Het |
| Or8b38 |
A |
G |
9: 37,973,446 (GRCm39) |
T277A |
probably damaging |
Het |
| Pou3f3 |
A |
G |
1: 42,737,438 (GRCm39) |
N378S |
probably benign |
Het |
| Rfx6 |
T |
A |
10: 51,588,187 (GRCm39) |
Y109* |
probably null |
Het |
| Rorc |
T |
A |
3: 94,304,632 (GRCm39) |
V339D |
probably benign |
Het |
| Scin |
T |
A |
12: 40,127,558 (GRCm39) |
I411F |
probably benign |
Het |
| Serpind1 |
A |
G |
16: 17,154,758 (GRCm39) |
Y195C |
probably damaging |
Het |
| Tas2r117 |
T |
C |
6: 132,780,585 (GRCm39) |
V241A |
possibly damaging |
Het |
| Tet3 |
T |
A |
6: 83,363,045 (GRCm39) |
E709V |
probably damaging |
Het |
| Trbc1 |
T |
A |
6: 41,515,383 (GRCm39) |
|
probably benign |
Het |
| Vmn1r212 |
C |
A |
13: 23,067,304 (GRCm39) |
G343V |
unknown |
Het |
| Vmn2r42 |
T |
A |
7: 8,197,837 (GRCm39) |
K261* |
probably null |
Het |
| Xrcc5 |
T |
A |
1: 72,379,209 (GRCm39) |
L438Q |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,624,608 (GRCm39) |
N72S |
probably damaging |
Het |
| Zfp292 |
A |
T |
4: 34,809,755 (GRCm39) |
S1096R |
probably 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 |
|
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 |
|
R5558:Pcdh10
|
UTSW |
3 |
45,338,603 (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'- TCCAAGAGTCTGCAGCACAC -3'
(R):5'- GCATGGTGTTTAGATTCTAGAGTAC -3'
Sequencing Primer
(F):5'- AGAGTCTGCAGCACACATTAG -3'
(R):5'- TCTAGAGTACAGTTCTAACCTCAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation