Incidental Mutation 'R4084:Pcdh10'
ID |
317008 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh10
|
Ensembl Gene |
ENSMUSG00000049100 |
Gene Name |
protocadherin 10 |
Synonyms |
Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik |
MMRRC Submission |
040857-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.231)
|
Stock # |
R4084 (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 C
at 45347142 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 979
(D979A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131600
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166126]
[ENSMUST00000170695]
[ENSMUST00000171554]
|
AlphaFold |
E9PXQ7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000166126
AA Change: D979A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131073 Gene: ENSMUSG00000049100 AA Change: D979A
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: D979A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000132769 Gene: ENSMUSG00000049100 AA Change: D979A
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: D979A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131600 Gene: ENSMUSG00000049100 AA Change: D979A
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: ENSMUST00000195655
|
Meta Mutation Damage Score |
0.0975 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amotl2 |
A |
T |
9: 102,601,884 (GRCm39) |
|
probably null |
Het |
Arhgdig |
T |
C |
17: 26,418,799 (GRCm39) |
D114G |
possibly damaging |
Het |
Btnl1 |
C |
T |
17: 34,600,133 (GRCm39) |
T212I |
possibly damaging |
Het |
Camkk1 |
C |
T |
11: 72,928,691 (GRCm39) |
T410I |
probably damaging |
Het |
Capn13 |
C |
T |
17: 73,644,444 (GRCm39) |
G362R |
probably benign |
Het |
Catsperd |
A |
G |
17: 56,961,453 (GRCm39) |
T392A |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,950,632 (GRCm39) |
I1626V |
probably benign |
Het |
Cdon |
C |
A |
9: 35,389,427 (GRCm39) |
T844K |
probably damaging |
Het |
Col28a1 |
G |
A |
6: 8,013,131 (GRCm39) |
Q974* |
probably null |
Het |
Col28a1 |
C |
G |
6: 8,013,132 (GRCm39) |
K973N |
possibly damaging |
Het |
Dnhd1 |
T |
C |
7: 105,358,795 (GRCm39) |
L3428P |
probably damaging |
Het |
Ecm1 |
A |
T |
3: 95,641,676 (GRCm39) |
N519K |
probably damaging |
Het |
Fbxw11 |
T |
C |
11: 32,689,248 (GRCm39) |
V457A |
probably damaging |
Het |
Flna |
C |
T |
X: 73,280,531 (GRCm39) |
V1009M |
possibly damaging |
Het |
Fmnl2 |
A |
T |
2: 52,997,507 (GRCm39) |
K486I |
possibly damaging |
Het |
Gja1 |
A |
C |
10: 56,264,607 (GRCm39) |
Q322P |
possibly damaging |
Het |
Gtpbp3 |
A |
G |
8: 71,943,156 (GRCm39) |
Q189R |
probably benign |
Het |
H2-Eb1 |
T |
C |
17: 34,533,417 (GRCm39) |
V213A |
probably damaging |
Het |
Herc4 |
G |
T |
10: 63,119,016 (GRCm39) |
G322V |
probably damaging |
Het |
Hgf |
G |
T |
5: 16,820,856 (GRCm39) |
G668* |
probably null |
Het |
Htra1 |
T |
C |
7: 130,538,074 (GRCm39) |
S25P |
probably benign |
Het |
Ifi44 |
A |
G |
3: 151,451,126 (GRCm39) |
|
probably null |
Het |
Klhl24 |
T |
A |
16: 19,933,312 (GRCm39) |
S308T |
probably damaging |
Het |
Lamb2 |
A |
G |
9: 108,365,217 (GRCm39) |
N1291S |
probably benign |
Het |
Lgals9 |
A |
T |
11: 78,860,589 (GRCm39) |
F162Y |
possibly damaging |
Het |
Lig3 |
T |
A |
11: 82,686,250 (GRCm39) |
I634N |
probably damaging |
Het |
Lipn |
T |
C |
19: 34,056,340 (GRCm39) |
F229L |
probably benign |
Het |
Lmtk3 |
T |
A |
7: 45,442,716 (GRCm39) |
S466R |
probably damaging |
Het |
Lonrf2 |
G |
A |
1: 38,860,232 (GRCm39) |
T22I |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,343,865 (GRCm39) |
H2119R |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,234,920 (GRCm39) |
C634Y |
probably damaging |
Het |
Nap1l1 |
G |
A |
10: 111,325,938 (GRCm39) |
V86I |
possibly damaging |
Het |
Noxred1 |
A |
G |
12: 87,280,258 (GRCm39) |
Y25H |
possibly damaging |
Het |
Nphp4 |
T |
C |
4: 152,573,248 (GRCm39) |
L62P |
probably damaging |
Het |
Or11h6 |
T |
A |
14: 50,880,305 (GRCm39) |
I189N |
probably damaging |
Het |
Or2b2 |
G |
A |
13: 21,887,238 (GRCm39) |
W22* |
probably null |
Het |
Or2b2 |
C |
A |
13: 21,887,239 (GRCm39) |
L23M |
probably damaging |
Het |
Or52ab4 |
T |
G |
7: 102,987,527 (GRCm39) |
F89V |
probably damaging |
Het |
Pla2g4f |
C |
G |
2: 120,142,806 (GRCm39) |
Q101H |
probably benign |
Het |
Ppp1r15b |
T |
C |
1: 133,060,805 (GRCm39) |
F441L |
probably damaging |
Het |
Prkaca |
C |
A |
8: 84,721,939 (GRCm39) |
P309T |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Ripor3 |
A |
G |
2: 167,826,386 (GRCm39) |
Y720H |
possibly damaging |
Het |
Rpgrip1 |
A |
G |
14: 52,386,808 (GRCm39) |
E751G |
possibly damaging |
Het |
Rsf1 |
GCGGCGGCGGCGGCGGC |
GCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,126 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
A |
G |
2: 112,731,253 (GRCm39) |
S686P |
probably damaging |
Het |
Seh1l |
T |
C |
18: 67,921,860 (GRCm39) |
V240A |
possibly damaging |
Het |
Slc10a2 |
T |
G |
8: 5,139,126 (GRCm39) |
I273L |
possibly damaging |
Het |
Slc23a2 |
A |
T |
2: 131,933,137 (GRCm39) |
L107* |
probably null |
Het |
Slc44a4 |
T |
C |
17: 35,136,323 (GRCm39) |
L38P |
probably damaging |
Het |
Slc6a18 |
C |
T |
13: 73,815,148 (GRCm39) |
V387I |
probably benign |
Het |
Slu7 |
G |
A |
11: 43,334,218 (GRCm39) |
A415T |
probably benign |
Het |
Tlr5 |
A |
T |
1: 182,802,413 (GRCm39) |
R572S |
possibly damaging |
Het |
Tmem45a2 |
C |
T |
16: 56,891,387 (GRCm39) |
G3D |
probably benign |
Het |
Trim24 |
A |
G |
6: 37,892,192 (GRCm39) |
T242A |
probably damaging |
Het |
Triobp |
T |
A |
15: 78,857,871 (GRCm39) |
N1157K |
probably benign |
Het |
Ugt1a6a |
A |
T |
1: 88,066,899 (GRCm39) |
D235V |
probably benign |
Het |
Vmn2r37 |
C |
T |
7: 9,218,984 (GRCm39) |
V467I |
probably benign |
Het |
Vmn2r7 |
C |
T |
3: 64,600,414 (GRCm39) |
E495K |
probably benign |
Het |
Vstm2a |
A |
G |
11: 16,213,098 (GRCm39) |
E161G |
probably damaging |
Het |
Ypel3 |
T |
C |
7: 126,377,537 (GRCm39) |
V74A |
possibly damaging |
Het |
Zfp1005 |
T |
A |
2: 150,108,122 (GRCm39) |
N27K |
possibly damaging |
Het |
Zfp27 |
C |
T |
7: 29,594,792 (GRCm39) |
R391H |
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 |
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 |
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'- CCGACCGTCGAATACATCTG -3'
(R):5'- ATGCAGGCTTCTGTGTGATAC -3'
Sequencing Primer
(F):5'- GACCGTCGAATACATCTGGAGTTC -3'
(R):5'- GCAGGCTTCTGTGTGATACTTACTC -3'
|
Posted On |
2015-05-15 |