Incidental Mutation 'R5488:Pcdh10'
| ID |
430447 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh10
|
| Ensembl Gene |
ENSMUSG00000049100 |
| Gene Name |
protocadherin 10 |
| Synonyms |
Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik |
| MMRRC Submission |
043049-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R5488 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
45332833-45389014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 45335803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 706
(G706S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141529
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166126]
[ENSMUST00000170695]
[ENSMUST00000171554]
[ENSMUST00000193252]
|
| AlphaFold |
E9PXQ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166126
AA Change: G706S
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: G706S
| 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 benign
Transcript: ENSMUST00000170695
AA Change: G706S
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: G706S
| 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: ENSMUST00000171554
AA Change: G706S
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: G706S
| 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 |
noncoding transcript
Transcript: ENSMUST00000181047
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191843
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000193252
AA Change: G706S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100
AA Change: G706S
| 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 |
0.1042 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 90.5%
|
| Validation Efficiency |
97% (58/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,851,473 (GRCm39) |
V817D |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,183,009 (GRCm39) |
V1016A |
probably benign |
Het |
| Ano2 |
G |
T |
6: 126,016,216 (GRCm39) |
M916I |
possibly damaging |
Het |
| Aqr |
T |
C |
2: 113,963,554 (GRCm39) |
N632S |
probably damaging |
Het |
| Cd48 |
G |
A |
1: 171,523,273 (GRCm39) |
V39I |
possibly damaging |
Het |
| Cdcp3 |
A |
G |
7: 130,848,324 (GRCm39) |
D710G |
probably damaging |
Het |
| Cdk17 |
A |
G |
10: 93,068,274 (GRCm39) |
T344A |
probably damaging |
Het |
| Chd8 |
A |
T |
14: 52,450,505 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
A |
T |
8: 11,362,550 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,258,318 (GRCm39) |
R579H |
probably damaging |
Het |
| Cripto |
G |
A |
9: 110,772,265 (GRCm39) |
R44C |
probably benign |
Het |
| Cyp2c69 |
T |
G |
19: 39,839,603 (GRCm39) |
Q340P |
probably null |
Het |
| D630003M21Rik |
T |
A |
2: 158,058,941 (GRCm39) |
T320S |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,173,782 (GRCm39) |
S129T |
possibly damaging |
Het |
| Eif4a3l1 |
C |
G |
6: 136,306,555 (GRCm39) |
R339G |
probably damaging |
Het |
| Fam13a |
A |
T |
6: 59,001,303 (GRCm39) |
L8Q |
probably null |
Het |
| Fam83b |
T |
C |
9: 76,452,881 (GRCm39) |
N62S |
probably benign |
Het |
| Foxred1 |
A |
T |
9: 35,121,266 (GRCm39) |
V94E |
probably damaging |
Het |
| Gprc5a |
T |
C |
6: 135,055,868 (GRCm39) |
V105A |
probably damaging |
Het |
| Gvin3 |
T |
A |
7: 106,200,797 (GRCm39) |
|
noncoding transcript |
Het |
| Itga2 |
A |
T |
13: 114,979,971 (GRCm39) |
W1077R |
probably damaging |
Het |
| Kat6b |
A |
G |
14: 21,719,332 (GRCm39) |
D1228G |
probably damaging |
Het |
| Kctd3 |
A |
G |
1: 188,713,563 (GRCm39) |
Y391H |
probably damaging |
Het |
| Kdelr2 |
T |
A |
5: 143,389,784 (GRCm39) |
I23N |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,752,335 (GRCm39) |
|
probably benign |
Het |
| Lao1 |
A |
G |
4: 118,824,566 (GRCm39) |
E216G |
probably damaging |
Het |
| Mark4 |
G |
T |
7: 19,163,532 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
A |
G |
2: 4,996,929 (GRCm39) |
W851R |
probably damaging |
Het |
| Mettl21e |
T |
C |
1: 44,257,276 (GRCm39) |
Y14C |
probably benign |
Het |
| Miga1 |
CACAACAACAACAACAACA |
CACAACAACAACAACA |
3: 152,039,083 (GRCm39) |
|
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,643,958 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
A |
T |
7: 23,117,359 (GRCm39) |
D361V |
probably benign |
Het |
| Nrip3 |
T |
C |
7: 109,361,045 (GRCm39) |
T210A |
probably damaging |
Het |
| Or12d2 |
T |
C |
17: 37,624,559 (GRCm39) |
T239A |
probably damaging |
Het |
| Or52s1b |
T |
C |
7: 102,822,658 (GRCm39) |
Y62C |
probably damaging |
Het |
| Pdzd2 |
G |
A |
15: 12,382,762 (GRCm39) |
P1197L |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,489,480 (GRCm39) |
S273G |
probably benign |
Het |
| Pkn3 |
T |
C |
2: 29,978,596 (GRCm39) |
|
probably null |
Het |
| Rab40c |
G |
A |
17: 26,109,643 (GRCm39) |
T78I |
probably damaging |
Het |
| Rec8 |
A |
T |
14: 55,860,283 (GRCm39) |
Q291L |
probably benign |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sart3 |
A |
G |
5: 113,909,441 (GRCm39) |
W86R |
probably damaging |
Het |
| Slc6a11 |
A |
G |
6: 114,220,855 (GRCm39) |
D462G |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,934,946 (GRCm39) |
T143A |
probably benign |
Het |
| Tardbp |
A |
G |
4: 148,703,097 (GRCm39) |
F289S |
probably benign |
Het |
| Tdpoz1 |
T |
A |
3: 93,577,974 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Tmem117 |
ACCC |
ACC |
15: 94,992,698 (GRCm39) |
|
probably null |
Het |
| Trim43a |
A |
T |
9: 88,464,229 (GRCm39) |
I47F |
probably damaging |
Het |
| Vim |
A |
T |
2: 13,580,392 (GRCm39) |
T202S |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,770,688 (GRCm39) |
I2044L |
probably benign |
Het |
| Wdr5 |
T |
G |
2: 27,415,165 (GRCm39) |
D192E |
probably damaging |
Het |
| Zmym2 |
A |
G |
14: 57,193,712 (GRCm39) |
K1176E |
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 |
|
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'- AACCTCTTTCGACTGGACTGG -3'
(R):5'- CCAACATGATATCTGACTTGCTG -3'
Sequencing Primer
(F):5'- TTCGACTGGACTGGCGCAC -3'
(R):5'- CATGATATCTGACTTGCTGAGTTTC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation