Incidental Mutation 'R1556:Pcdh8'
| ID |
170299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh8
|
| Ensembl Gene |
ENSMUSG00000036422 |
| Gene Name |
protocadherin 8 |
| Synonyms |
Papc, 1700080P15Rik |
| MMRRC Submission |
039595-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1556 (G1)
|
| Quality Score |
155 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
80004224-80008752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 80007843 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 240
(D240A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141417
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039568]
[ENSMUST00000195355]
|
| AlphaFold |
Q7TSK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039568
AA Change: D240A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: D240A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
45 |
133 |
8.69e-2 |
SMART |
|
CA
|
157 |
243 |
1.22e-14 |
SMART |
|
CA
|
268 |
352 |
6.08e-24 |
SMART |
|
low complexity region
|
360 |
392 |
N/A |
INTRINSIC |
|
CA
|
414 |
495 |
5.34e-20 |
SMART |
|
CA
|
519 |
607 |
1.57e-26 |
SMART |
|
CA
|
636 |
718 |
1.12e-4 |
SMART |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
782 |
802 |
N/A |
INTRINSIC |
|
low complexity region
|
828 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
910 |
933 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
980 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193759
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194881
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195034
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000195355
AA Change: D240A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: D240A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
CA
|
45 |
133 |
8.69e-2 |
SMART |
|
CA
|
157 |
243 |
1.22e-14 |
SMART |
|
CA
|
268 |
352 |
6.08e-24 |
SMART |
|
low complexity region
|
360 |
392 |
N/A |
INTRINSIC |
|
CA
|
414 |
495 |
5.34e-20 |
SMART |
|
CA
|
519 |
607 |
1.57e-26 |
SMART |
|
CA
|
636 |
718 |
1.12e-4 |
SMART |
|
transmembrane domain
|
748 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
813 |
836 |
N/A |
INTRINSIC |
|
low complexity region
|
877 |
883 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a type I transmembrane protein composed of an extracellular domain including 6 cadherin ectodomains, a single-pass transmembrane domain and a cytoplasmic tail. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons with the first large exon encoding the extracellular and transmembrane region. Although this gene product is capable of homophilic interaction, it appears to affect cell-cell adhesion indirectly by initiating signaling events that regulate classical cadherin-mediated adhesion. Based on studies on this protein and its orthologs, this protocadherin mainly functions in developing embryos and the central nervous system, but can also function as a tumor suppressor. Alternative splicing yielding isoforms with unique cytoplasmic tails has been reported. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice are viable and fertile, and do not exhibit any gross skeletal defects. [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 |
|---|
| 1700030K09Rik |
T |
C |
8: 73,203,477 (GRCm39) |
S302P |
probably damaging |
Het |
| Anapc1 |
T |
C |
2: 128,466,819 (GRCm39) |
T1626A |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
| Arid5a |
T |
A |
1: 36,359,245 (GRCm39) |
Y520* |
probably null |
Het |
| Aven |
G |
A |
2: 112,461,230 (GRCm39) |
M215I |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,877,837 (GRCm39) |
D58G |
probably damaging |
Het |
| Ccdc146 |
A |
G |
5: 21,535,551 (GRCm39) |
Y168H |
probably damaging |
Het |
| Ccnd2 |
A |
T |
6: 127,107,363 (GRCm39) |
S269T |
probably benign |
Het |
| Cd68 |
T |
A |
11: 69,556,676 (GRCm39) |
T44S |
probably damaging |
Het |
| Clstn2 |
A |
T |
9: 97,338,558 (GRCm39) |
I867N |
probably benign |
Het |
| Cmss1 |
C |
T |
16: 57,136,560 (GRCm39) |
R104H |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,586,672 (GRCm39) |
V1783A |
possibly damaging |
Het |
| Dach2 |
T |
C |
X: 112,208,214 (GRCm39) |
S31P |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,958,761 (GRCm39) |
W279R |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,890,921 (GRCm39) |
I2817F |
possibly damaging |
Het |
| Gabrr3 |
G |
A |
16: 59,281,763 (GRCm39) |
D373N |
probably benign |
Het |
| Gdf7 |
T |
C |
12: 8,351,698 (GRCm39) |
N79S |
unknown |
Het |
| Gpam |
A |
G |
19: 55,064,763 (GRCm39) |
V647A |
possibly damaging |
Het |
| Gpatch1 |
T |
C |
7: 34,994,776 (GRCm39) |
T497A |
probably benign |
Het |
| Grin2a |
A |
T |
16: 9,525,579 (GRCm39) |
F337L |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| H2-Aa |
A |
T |
17: 34,503,390 (GRCm39) |
V69D |
possibly damaging |
Het |
| H2-M10.5 |
T |
C |
17: 37,084,205 (GRCm39) |
Y56H |
probably damaging |
Het |
| Kcnu1 |
G |
A |
8: 26,351,219 (GRCm39) |
|
probably null |
Het |
| Krt77 |
A |
G |
15: 101,769,713 (GRCm39) |
S386P |
probably damaging |
Het |
| L3mbtl2 |
T |
A |
15: 81,566,203 (GRCm39) |
M342K |
probably benign |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,010 (GRCm39) |
T186A |
probably benign |
Het |
| Lins1 |
C |
A |
7: 66,360,385 (GRCm39) |
C168* |
probably null |
Het |
| Lrrtm3 |
G |
A |
10: 63,923,928 (GRCm39) |
T413M |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,348,813 (GRCm39) |
D4038G |
probably damaging |
Het |
| Mark3 |
T |
G |
12: 111,594,275 (GRCm39) |
N308K |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,597,367 (GRCm39) |
Y709F |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,014,198 (GRCm39) |
S330R |
probably benign |
Het |
| Or1p1 |
T |
A |
11: 74,179,762 (GRCm39) |
C97S |
probably damaging |
Het |
| Or4k15c |
G |
A |
14: 50,321,916 (GRCm39) |
A74V |
possibly damaging |
Het |
| Or51a24 |
T |
A |
7: 103,733,468 (GRCm39) |
H273L |
probably benign |
Het |
| Or6c76 |
T |
C |
10: 129,612,242 (GRCm39) |
V168A |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,894,068 (GRCm39) |
|
probably benign |
Het |
| P4ha2 |
A |
G |
11: 54,015,836 (GRCm39) |
T408A |
probably damaging |
Het |
| Pcyt2 |
T |
C |
11: 120,502,911 (GRCm39) |
|
probably null |
Het |
| Pecr |
T |
A |
1: 72,298,542 (GRCm39) |
I293L |
probably benign |
Het |
| Pogk |
A |
G |
1: 166,226,402 (GRCm39) |
V583A |
possibly damaging |
Het |
| Prkg1 |
T |
C |
19: 30,602,143 (GRCm39) |
K371R |
probably benign |
Het |
| Psmd2 |
T |
A |
16: 20,474,335 (GRCm39) |
M297K |
possibly damaging |
Het |
| Rgs12 |
A |
G |
5: 35,196,626 (GRCm39) |
R769G |
possibly damaging |
Het |
| Sgtb |
T |
A |
13: 104,276,284 (GRCm39) |
N237K |
probably damaging |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,476,751 (GRCm39) |
V91A |
probably damaging |
Het |
| Slc4a1ap |
G |
A |
5: 31,691,554 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
T |
C |
14: 14,778,872 (GRCm38) |
V940A |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,090,499 (GRCm39) |
T740A |
probably benign |
Het |
| Tnk2 |
G |
T |
16: 32,489,737 (GRCm39) |
|
probably null |
Het |
| Trpv2 |
A |
G |
11: 62,483,059 (GRCm39) |
Y450C |
probably damaging |
Het |
| Tut7 |
T |
C |
13: 59,948,054 (GRCm39) |
T354A |
probably benign |
Het |
| Tvp23a |
A |
T |
16: 10,264,862 (GRCm39) |
D16E |
probably damaging |
Het |
| Twnk |
T |
C |
19: 44,997,850 (GRCm39) |
F460L |
possibly damaging |
Het |
| Unc80 |
C |
T |
1: 66,560,740 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Urb2 |
T |
C |
8: 124,757,356 (GRCm39) |
L1021P |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,837,993 (GRCm39) |
Y1848H |
probably damaging |
Het |
| Vwa8 |
T |
G |
14: 79,324,121 (GRCm39) |
N1141K |
probably benign |
Het |
| Yipf3 |
A |
G |
17: 46,561,793 (GRCm39) |
Y200C |
probably damaging |
Het |
| Zbtb38 |
A |
G |
9: 96,569,044 (GRCm39) |
V680A |
probably benign |
Het |
| Znrf3 |
T |
C |
11: 5,231,347 (GRCm39) |
E722G |
probably benign |
Het |
| Zzef1 |
T |
A |
11: 72,806,059 (GRCm39) |
L2665H |
probably damaging |
Het |
|
| Other mutations in Pcdh8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02127:Pcdh8
|
APN |
14 |
80,006,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02611:Pcdh8
|
APN |
14 |
80,005,107 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0094:Pcdh8
|
UTSW |
14 |
80,005,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0118:Pcdh8
|
UTSW |
14 |
80,004,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Pcdh8
|
UTSW |
14 |
80,007,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0681:Pcdh8
|
UTSW |
14 |
80,007,400 (GRCm39) |
missense |
probably benign |
|
|
R0718:Pcdh8
|
UTSW |
14 |
80,008,131 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1281:Pcdh8
|
UTSW |
14 |
80,005,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1487:Pcdh8
|
UTSW |
14 |
80,006,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1511:Pcdh8
|
UTSW |
14 |
80,006,829 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1552:Pcdh8
|
UTSW |
14 |
80,008,047 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1659:Pcdh8
|
UTSW |
14 |
80,005,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2062:Pcdh8
|
UTSW |
14 |
80,005,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Pcdh8
|
UTSW |
14 |
80,005,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Pcdh8
|
UTSW |
14 |
80,005,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2920:Pcdh8
|
UTSW |
14 |
80,006,154 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3970:Pcdh8
|
UTSW |
14 |
80,007,706 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4113:Pcdh8
|
UTSW |
14 |
80,004,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4771:Pcdh8
|
UTSW |
14 |
80,005,710 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4840:Pcdh8
|
UTSW |
14 |
80,008,308 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5169:Pcdh8
|
UTSW |
14 |
80,005,095 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5187:Pcdh8
|
UTSW |
14 |
80,007,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5415:Pcdh8
|
UTSW |
14 |
80,007,688 (GRCm39) |
nonsense |
probably null |
|
|
R5548:Pcdh8
|
UTSW |
14 |
80,004,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5749:Pcdh8
|
UTSW |
14 |
80,007,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5778:Pcdh8
|
UTSW |
14 |
80,008,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5795:Pcdh8
|
UTSW |
14 |
80,008,420 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6313:Pcdh8
|
UTSW |
14 |
80,005,091 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7472:Pcdh8
|
UTSW |
14 |
80,008,691 (GRCm39) |
splice site |
probably null |
|
|
R7540:Pcdh8
|
UTSW |
14 |
80,008,543 (GRCm39) |
missense |
probably benign |
|
|
R7653:Pcdh8
|
UTSW |
14 |
80,005,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7751:Pcdh8
|
UTSW |
14 |
80,008,143 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7836:Pcdh8
|
UTSW |
14 |
80,006,101 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8281:Pcdh8
|
UTSW |
14 |
80,006,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8365:Pcdh8
|
UTSW |
14 |
80,008,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8751:Pcdh8
|
UTSW |
14 |
80,006,229 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8814:Pcdh8
|
UTSW |
14 |
80,006,337 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8931:Pcdh8
|
UTSW |
14 |
80,006,971 (GRCm39) |
nonsense |
probably null |
|
|
R9158:Pcdh8
|
UTSW |
14 |
80,005,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9485:Pcdh8
|
UTSW |
14 |
80,005,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9532:Pcdh8
|
UTSW |
14 |
80,008,206 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9558:Pcdh8
|
UTSW |
14 |
80,006,380 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Pcdh8
|
UTSW |
14 |
80,006,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Pcdh8
|
UTSW |
14 |
80,007,321 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGTCCAGCTCGTAGGTGTCCT -3'
(R):5'- AGCAATTCAACAGCTCTCTGCTCC -3'
Sequencing Primer
(F):5'- CGCTCGTAGTCCACCTG -3'
(R):5'- TGTCAGCTTCTCGCAGGAAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation