Incidental Mutation 'R7691:Pcdh10'
| ID |
593379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh10
|
| Ensembl Gene |
ENSMUSG00000049100 |
| Gene Name |
protocadherin 10 |
| Synonyms |
Olpc, OL-pc, 6430521D13Rik, 6430703F07Rik |
| MMRRC Submission |
045755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.231)
|
| Stock # |
R7691 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
45332833-45389014 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45335632 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 649
(D649Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131073
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166126]
[ENSMUST00000170695]
[ENSMUST00000171554]
[ENSMUST00000193252]
|
| AlphaFold |
E9PXQ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166126
AA Change: D649Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131073
Gene: ENSMUSG00000049100
AA Change: D649Y
| 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: D649Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000132769
Gene: ENSMUSG00000049100
AA Change: D649Y
| 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: D649Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131600
Gene: ENSMUSG00000049100
AA Change: D649Y
| 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: ENSMUST00000193252
AA Change: D649Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141529
Gene: ENSMUSG00000049100
AA Change: D649Y
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
A |
T |
6: 92,773,219 (GRCm39) |
C1763S |
probably damaging |
Het |
| Adcy3 |
T |
C |
12: 4,256,540 (GRCm39) |
V782A |
probably benign |
Het |
| Arhgef17 |
G |
A |
7: 100,578,849 (GRCm39) |
R700C |
probably damaging |
Het |
| Atxn2l |
T |
C |
7: 126,091,782 (GRCm39) |
|
probably null |
Het |
| Bach2 |
A |
G |
4: 32,580,271 (GRCm39) |
E832G |
probably damaging |
Het |
| Brpf3 |
G |
C |
17: 29,025,805 (GRCm39) |
A293P |
probably damaging |
Het |
| Cacfd1 |
T |
C |
2: 26,900,106 (GRCm39) |
L36P |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,220,742 (GRCm39) |
E268G |
probably damaging |
Het |
| Ccnjl |
A |
T |
11: 43,474,028 (GRCm39) |
Q201L |
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,560,048 (GRCm39) |
V372A |
probably damaging |
Het |
| Cenpf |
C |
A |
1: 189,390,404 (GRCm39) |
E1143* |
probably null |
Het |
| Colgalt1 |
A |
T |
8: 72,073,398 (GRCm39) |
M340L |
probably benign |
Het |
| Crybg3 |
A |
G |
16: 59,376,497 (GRCm39) |
Y1586H |
not run |
Het |
| Csmd3 |
A |
G |
15: 47,604,569 (GRCm39) |
I1058T |
|
Het |
| Dock1 |
G |
A |
7: 134,739,886 (GRCm39) |
|
probably null |
Het |
| Dzank1 |
G |
A |
2: 144,348,091 (GRCm39) |
T225I |
probably damaging |
Het |
| Eif3c |
G |
A |
7: 126,151,162 (GRCm39) |
R721W |
possibly damaging |
Het |
| Fdps |
A |
G |
3: 89,006,674 (GRCm39) |
V72A |
probably benign |
Het |
| Filip1l |
A |
G |
16: 57,392,796 (GRCm39) |
N1128S |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 52,991,510 (GRCm39) |
Y342N |
unknown |
Het |
| Gria1 |
A |
T |
11: 57,127,813 (GRCm39) |
I410F |
possibly damaging |
Het |
| Gsdmc4 |
C |
A |
15: 63,765,640 (GRCm39) |
S303I |
probably damaging |
Het |
| Herc2 |
C |
T |
7: 55,841,593 (GRCm39) |
P3491S |
probably benign |
Het |
| Ift25 |
A |
G |
4: 107,130,886 (GRCm39) |
I59V |
probably benign |
Het |
| Lama2 |
T |
C |
10: 27,084,389 (GRCm39) |
H927R |
possibly damaging |
Het |
| Lrrc8e |
T |
C |
8: 4,284,534 (GRCm39) |
M253T |
probably damaging |
Het |
| Ltn1 |
G |
T |
16: 87,195,574 (GRCm39) |
H1317Q |
probably damaging |
Het |
| Map6 |
C |
T |
7: 98,985,499 (GRCm39) |
L671F |
possibly damaging |
Het |
| Mki67 |
C |
T |
7: 135,303,721 (GRCm39) |
V716I |
not run |
Het |
| Mllt10 |
G |
C |
2: 18,208,423 (GRCm39) |
S694T |
probably null |
Het |
| Mllt10 |
A |
G |
2: 18,208,422 (GRCm39) |
S694G |
possibly damaging |
Het |
| Mtcl1 |
A |
G |
17: 66,687,352 (GRCm39) |
L518S |
probably damaging |
Het |
| Or2ad1 |
G |
A |
13: 21,327,140 (GRCm39) |
A29V |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,194,340 (GRCm39) |
T39M |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,655,726 (GRCm39) |
E342G |
probably benign |
Het |
| Pon1 |
C |
T |
6: 5,175,819 (GRCm39) |
V235I |
probably benign |
Het |
| Rhobtb3 |
A |
T |
13: 76,027,056 (GRCm39) |
V439E |
probably damaging |
Het |
| Septin8 |
A |
G |
11: 53,428,414 (GRCm39) |
T355A |
probably benign |
Het |
| Sp110 |
G |
A |
1: 85,506,813 (GRCm39) |
R417C |
probably benign |
Het |
| Ssc5d |
C |
T |
7: 4,947,168 (GRCm39) |
T1174I |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,461,163 (GRCm39) |
T3535S |
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,301,983 (GRCm39) |
V80A |
probably damaging |
Het |
| Sult2b1 |
T |
C |
7: 45,384,708 (GRCm39) |
I123V |
probably benign |
Het |
| Sv2a |
A |
T |
3: 96,095,727 (GRCm39) |
I348F |
probably benign |
Het |
| Taar8b |
T |
A |
10: 23,967,436 (GRCm39) |
R253* |
probably null |
Het |
| Tbc1d4 |
T |
C |
14: 101,745,077 (GRCm39) |
K183R |
probably damaging |
Het |
| Tet2 |
T |
A |
3: 133,192,610 (GRCm39) |
D608V |
probably damaging |
Het |
| Tnfsf14 |
T |
A |
17: 57,501,024 (GRCm39) |
T16S |
possibly damaging |
Het |
| Togaram2 |
A |
G |
17: 72,023,405 (GRCm39) |
T774A |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,464,515 (GRCm39) |
A87E |
probably benign |
Het |
| Tsn |
T |
C |
1: 118,237,505 (GRCm39) |
D53G |
probably benign |
Het |
| Usp37 |
TC |
T |
1: 74,525,919 (GRCm39) |
|
probably null |
Het |
| Vav2 |
T |
A |
2: 27,187,750 (GRCm39) |
|
probably null |
Het |
| Vmn2r52 |
T |
A |
7: 9,893,109 (GRCm39) |
I677F |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,592,851 (GRCm39) |
Y452F |
probably benign |
Het |
| Vmn2r79 |
A |
G |
7: 86,687,111 (GRCm39) |
R831G |
probably damaging |
Het |
| Zfp821 |
T |
C |
8: 110,447,871 (GRCm39) |
S71P |
probably damaging |
Het |
| Zwilch |
T |
A |
9: 64,063,373 (GRCm39) |
I286F |
probably benign |
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 |
|
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 |
|
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'- GTGGATCAGAACGACAACGC -3'
(R):5'- AGGTCCAGTGAAGTTTCCCC -3'
Sequencing Primer
(F):5'- CAACGGGACTCCAGCCC -3'
(R):5'- TGAAGTTTCCCCGCCGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation