Incidental Mutation 'R1857:Pcdh10'
ID |
206205 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh10
|
Ensembl Gene |
ENSMUSG00000049100 |
Gene Name |
protocadherin 10 |
Synonyms |
Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik |
MMRRC Submission |
039881-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.235)
|
Stock # |
R1857 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
45332833-45389014 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 45334372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 229
(Q229K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141529
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166126]
[ENSMUST00000170695]
[ENSMUST00000171554]
[ENSMUST00000193252]
|
AlphaFold |
E9PXQ7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000166126
AA Change: Q229K
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131073 Gene: ENSMUSG00000049100 AA Change: Q229K
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 |
possibly damaging
Transcript: ENSMUST00000170695
AA Change: Q229K
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132769 Gene: ENSMUSG00000049100 AA Change: Q229K
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 |
possibly damaging
Transcript: ENSMUST00000171554
AA Change: Q229K
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000131600 Gene: ENSMUSG00000049100 AA Change: Q229K
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 |
possibly damaging
Transcript: ENSMUST00000193252
AA Change: Q229K
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141529 Gene: ENSMUSG00000049100 AA Change: Q229K
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: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.2%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,766,789 (GRCm39) |
I57N |
probably damaging |
Het |
Abca15 |
T |
C |
7: 119,960,592 (GRCm39) |
S685P |
probably damaging |
Het |
Adpgk |
G |
T |
9: 59,222,248 (GRCm39) |
V392L |
probably benign |
Het |
Akap14 |
C |
T |
X: 36,420,779 (GRCm39) |
A476T |
probably damaging |
Het |
Amdhd1 |
A |
T |
10: 93,367,416 (GRCm39) |
I246N |
probably damaging |
Het |
Amhr2 |
T |
A |
15: 102,355,212 (GRCm39) |
L165* |
probably null |
Het |
Atr |
T |
A |
9: 95,747,150 (GRCm39) |
I144N |
probably damaging |
Het |
Ccdc33 |
T |
C |
9: 57,939,991 (GRCm39) |
N750S |
possibly damaging |
Het |
Cdh23 |
A |
G |
10: 60,159,076 (GRCm39) |
I2233T |
probably damaging |
Het |
Cfap46 |
C |
A |
7: 139,233,324 (GRCm39) |
V774F |
probably damaging |
Het |
Cfap69 |
G |
T |
5: 5,632,518 (GRCm39) |
T362K |
possibly damaging |
Het |
Cnih3 |
A |
G |
1: 181,277,638 (GRCm39) |
H101R |
probably damaging |
Het |
Crebrf |
T |
A |
17: 26,961,937 (GRCm39) |
Y345N |
probably benign |
Het |
Cyb5r4 |
C |
T |
9: 86,923,332 (GRCm39) |
S185L |
probably benign |
Het |
Cyp2j5 |
T |
C |
4: 96,547,723 (GRCm39) |
E173G |
possibly damaging |
Het |
Cyp3a41b |
T |
A |
5: 145,503,660 (GRCm39) |
I296F |
probably benign |
Het |
Dse |
T |
C |
10: 34,029,225 (GRCm39) |
T622A |
probably benign |
Het |
Duxf4 |
A |
G |
10: 58,071,602 (GRCm39) |
V204A |
probably benign |
Het |
Dync1h1 |
T |
A |
12: 110,629,059 (GRCm39) |
F4205L |
probably damaging |
Het |
Eif3a |
A |
C |
19: 60,770,635 (GRCm39) |
L71V |
probably damaging |
Het |
Eif3h |
T |
C |
15: 51,662,674 (GRCm39) |
Y124C |
probably damaging |
Het |
Eif4g3 |
A |
T |
4: 137,903,187 (GRCm39) |
Q1169L |
possibly damaging |
Het |
Endod1 |
T |
A |
9: 14,268,405 (GRCm39) |
H360L |
probably benign |
Het |
Fbxo38 |
A |
G |
18: 62,648,489 (GRCm39) |
I683T |
probably damaging |
Het |
Frem2 |
T |
A |
3: 53,562,294 (GRCm39) |
T738S |
probably benign |
Het |
Gm1527 |
A |
T |
3: 28,957,539 (GRCm39) |
T148S |
probably damaging |
Het |
Gm4894 |
T |
C |
9: 49,189,976 (GRCm39) |
S84P |
unknown |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Il1f10 |
A |
T |
2: 24,182,817 (GRCm39) |
D31V |
possibly damaging |
Het |
Lrrc56 |
A |
G |
7: 140,787,421 (GRCm39) |
M353V |
probably benign |
Het |
Meiob |
T |
C |
17: 25,042,544 (GRCm39) |
V124A |
probably damaging |
Het |
Mmp11 |
A |
T |
10: 75,764,191 (GRCm39) |
D91E |
probably benign |
Het |
Mpped2 |
T |
C |
2: 106,613,989 (GRCm39) |
Y108H |
probably damaging |
Het |
Mroh9 |
A |
G |
1: 162,866,714 (GRCm39) |
V674A |
probably damaging |
Het |
Mtor |
G |
T |
4: 148,565,336 (GRCm39) |
Q1015H |
probably damaging |
Het |
Mylk3 |
G |
A |
8: 86,055,223 (GRCm39) |
T711I |
probably damaging |
Het |
Ndufaf6 |
G |
T |
4: 11,053,474 (GRCm39) |
H277Q |
probably benign |
Het |
Neurl4 |
G |
T |
11: 69,796,361 (GRCm39) |
G435V |
probably damaging |
Het |
Nipal2 |
A |
G |
15: 34,678,779 (GRCm39) |
S21P |
possibly damaging |
Het |
Nphp1 |
T |
A |
2: 127,612,296 (GRCm39) |
D217V |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,898,493 (GRCm39) |
I432T |
possibly damaging |
Het |
Oprd1 |
T |
G |
4: 131,840,992 (GRCm39) |
D322A |
probably damaging |
Het |
Or10ag2 |
T |
C |
2: 87,248,992 (GRCm39) |
L198P |
probably damaging |
Het |
Or2b28 |
A |
G |
13: 21,531,346 (GRCm39) |
M83V |
possibly damaging |
Het |
Or56a3b |
T |
G |
7: 104,770,751 (GRCm39) |
L29R |
probably benign |
Het |
Pdlim7 |
G |
A |
13: 55,653,858 (GRCm39) |
T253M |
probably damaging |
Het |
Pfdn1 |
C |
A |
18: 36,584,153 (GRCm39) |
M60I |
probably benign |
Het |
Pigc |
T |
G |
1: 161,798,446 (GRCm39) |
S143A |
possibly damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,767,408 (GRCm39) |
D1294G |
possibly damaging |
Het |
Ppp2r1a |
T |
C |
17: 21,181,951 (GRCm39) |
S490P |
possibly damaging |
Het |
Ppp2r3d |
T |
A |
9: 101,090,092 (GRCm39) |
N77I |
probably damaging |
Het |
Pramel17 |
T |
C |
4: 101,692,770 (GRCm39) |
Y410C |
probably damaging |
Het |
Pramel29 |
C |
T |
4: 143,935,091 (GRCm39) |
V217I |
possibly damaging |
Het |
Prl7a2 |
A |
T |
13: 27,843,163 (GRCm39) |
C213* |
probably null |
Het |
Prpf8 |
T |
A |
11: 75,386,249 (GRCm39) |
|
probably null |
Het |
Psmd7 |
A |
T |
8: 108,311,525 (GRCm39) |
N109K |
probably damaging |
Het |
Ptprn |
T |
C |
1: 75,224,549 (GRCm39) |
K936E |
possibly damaging |
Het |
Ro60 |
T |
C |
1: 143,646,488 (GRCm39) |
T86A |
probably benign |
Het |
Ror1 |
A |
T |
4: 100,298,700 (GRCm39) |
Q691L |
probably damaging |
Het |
Sars2 |
A |
G |
7: 28,449,437 (GRCm39) |
M322V |
probably benign |
Het |
Scfd2 |
C |
A |
5: 74,372,962 (GRCm39) |
E638* |
probably null |
Het |
Scgb3a2 |
A |
G |
18: 43,899,900 (GRCm39) |
T63A |
probably benign |
Het |
Slc5a4a |
T |
C |
10: 76,002,569 (GRCm39) |
S242P |
probably benign |
Het |
Smarcd1 |
A |
G |
15: 99,607,295 (GRCm39) |
K382E |
probably damaging |
Het |
Sox5 |
T |
A |
6: 143,906,541 (GRCm39) |
S305C |
probably damaging |
Het |
Sp5 |
C |
A |
2: 70,307,213 (GRCm39) |
H299Q |
possibly damaging |
Het |
Stard13 |
T |
C |
5: 151,018,903 (GRCm39) |
Y60C |
probably damaging |
Het |
Tmprss6 |
A |
G |
15: 78,336,752 (GRCm39) |
F383L |
probably damaging |
Het |
Ttc23 |
T |
C |
7: 67,328,821 (GRCm39) |
|
probably null |
Het |
Ugt2b34 |
T |
C |
5: 87,052,241 (GRCm39) |
T252A |
possibly damaging |
Het |
Vangl2 |
A |
T |
1: 171,837,464 (GRCm39) |
L115Q |
probably damaging |
Het |
Vmn1r42 |
A |
G |
6: 89,821,597 (GRCm39) |
I324T |
probably benign |
Het |
Vwa5b1 |
A |
G |
4: 138,296,413 (GRCm39) |
F1205L |
probably damaging |
Het |
Zfp951 |
G |
C |
5: 104,962,723 (GRCm39) |
T281R |
probably damaging |
Het |
Zscan30 |
A |
G |
18: 24,104,524 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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'- AATAGCTACTTCTCGCTAGACGTAC -3'
(R):5'- AGCCCTGGGTGAAATGTGAC -3'
Sequencing Primer
(F):5'- TTCTCGCTAGACGTACAGACC -3'
(R):5'- TGTGACTACTGAACGAGTACAC -3'
|
Posted On |
2014-06-23 |