Incidental Mutation 'R1487:Pcdh8'
| ID |
163554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh8
|
| Ensembl Gene |
ENSMUSG00000036422 |
| Gene Name |
protocadherin 8 |
| Synonyms |
Papc, 1700080P15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1487 (G1)
|
| Quality Score |
170 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
80004224-80008752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 80006987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 525
(D525E)
|
| 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: D525E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: D525E
| 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: D525E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: D525E
| 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: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
A |
C |
6: 146,854,877 (GRCm39) |
V55G |
probably benign |
Het |
| Abhd13 |
A |
G |
8: 10,037,402 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
T |
A |
10: 67,933,044 (GRCm39) |
K953* |
probably null |
Het |
| Armh3 |
A |
C |
19: 45,928,882 (GRCm39) |
|
probably null |
Het |
| B4galt6 |
A |
G |
18: 20,839,571 (GRCm39) |
V121A |
possibly damaging |
Het |
| C1qtnf12 |
G |
A |
4: 156,050,331 (GRCm39) |
E223K |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,955 (GRCm39) |
I208V |
probably benign |
Het |
| Cd14 |
T |
C |
18: 36,858,537 (GRCm39) |
N306S |
probably benign |
Het |
| Cdc16 |
T |
A |
8: 13,821,445 (GRCm39) |
N415K |
probably benign |
Het |
| Cfap57 |
C |
A |
4: 118,471,978 (GRCm39) |
V134F |
probably benign |
Het |
| Chrna2 |
C |
T |
14: 66,380,812 (GRCm39) |
A27V |
probably benign |
Het |
| Chtf18 |
T |
C |
17: 25,939,583 (GRCm39) |
K67R |
probably benign |
Het |
| Clock |
T |
C |
5: 76,414,201 (GRCm39) |
|
probably null |
Het |
| Cplane1 |
C |
T |
15: 8,215,715 (GRCm39) |
R424W |
probably damaging |
Het |
| Eif4g1 |
G |
A |
16: 20,497,623 (GRCm39) |
|
probably benign |
Het |
| Eps8l2 |
A |
T |
7: 140,941,531 (GRCm39) |
M601L |
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,050,066 (GRCm39) |
E3976G |
possibly damaging |
Het |
| Flrt3 |
T |
A |
2: 140,502,854 (GRCm39) |
H258L |
probably damaging |
Het |
| Flt4 |
C |
A |
11: 49,523,971 (GRCm39) |
T517K |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 57,993,073 (GRCm39) |
N416S |
probably damaging |
Het |
| Gipc1 |
C |
T |
8: 84,387,808 (GRCm39) |
Q63* |
probably null |
Het |
| Gm17079 |
A |
T |
14: 51,930,542 (GRCm39) |
|
probably null |
Het |
| Gucy2c |
T |
A |
6: 136,725,824 (GRCm39) |
I375F |
possibly damaging |
Het |
| Hps4 |
C |
T |
5: 112,525,865 (GRCm39) |
Q629* |
probably null |
Het |
| Hunk |
A |
G |
16: 90,183,525 (GRCm39) |
Y61C |
probably damaging |
Het |
| Itga6 |
T |
C |
2: 71,673,584 (GRCm39) |
S873P |
possibly damaging |
Het |
| Kcnc1 |
A |
G |
7: 46,047,298 (GRCm39) |
H66R |
possibly damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,084,772 (GRCm39) |
|
probably null |
Het |
| Khdc3 |
A |
G |
9: 73,009,846 (GRCm39) |
T19A |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,745,287 (GRCm39) |
|
probably benign |
Het |
| Lipe |
C |
T |
7: 25,084,240 (GRCm39) |
A615T |
possibly damaging |
Het |
| Lrguk |
A |
T |
6: 34,039,295 (GRCm39) |
M269L |
probably benign |
Het |
| Lrrc18 |
A |
G |
14: 32,730,640 (GRCm39) |
N60D |
probably damaging |
Het |
| Magi1 |
T |
C |
6: 93,685,060 (GRCm39) |
T773A |
probably benign |
Het |
| Map3k14 |
T |
A |
11: 103,116,163 (GRCm39) |
D755V |
possibly damaging |
Het |
| Mecom |
T |
C |
3: 30,034,213 (GRCm39) |
T488A |
probably damaging |
Het |
| Mmp10 |
T |
G |
9: 7,509,978 (GRCm39) |
W473G |
probably damaging |
Het |
| Mrgpra2a |
C |
T |
7: 47,076,434 (GRCm39) |
V275I |
probably benign |
Het |
| Myo7a |
A |
C |
7: 97,703,017 (GRCm39) |
|
probably null |
Het |
| Nadsyn1 |
C |
T |
7: 143,360,662 (GRCm39) |
V369I |
probably benign |
Het |
| Nptxr |
C |
A |
15: 79,674,104 (GRCm39) |
G424V |
probably damaging |
Het |
| Nrg2 |
C |
T |
18: 36,185,965 (GRCm39) |
G258E |
possibly damaging |
Het |
| Nup210 |
G |
A |
6: 91,019,558 (GRCm39) |
P221S |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,273,245 (GRCm39) |
Y282N |
probably damaging |
Het |
| Or52a33 |
T |
A |
7: 103,288,801 (GRCm39) |
H182L |
probably damaging |
Het |
| Or6c208 |
T |
C |
10: 129,224,209 (GRCm39) |
F236L |
probably benign |
Het |
| Oxct1 |
A |
G |
15: 4,177,057 (GRCm39) |
D477G |
possibly damaging |
Het |
| Phldb2 |
A |
G |
16: 45,609,387 (GRCm39) |
S740P |
probably damaging |
Het |
| Prss54 |
A |
G |
8: 96,286,276 (GRCm39) |
S266P |
probably benign |
Het |
| Ptprh |
T |
A |
7: 4,555,737 (GRCm39) |
I741F |
probably damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,644,240 (GRCm39) |
S515Y |
probably damaging |
Het |
| Recql4 |
T |
A |
15: 76,593,183 (GRCm39) |
N309I |
probably benign |
Het |
| Sec24a |
T |
C |
11: 51,622,713 (GRCm39) |
T388A |
possibly damaging |
Het |
| Setd6 |
T |
A |
8: 96,444,556 (GRCm39) |
L83H |
probably damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,340,716 (GRCm39) |
W534* |
probably null |
Het |
| St14 |
C |
T |
9: 31,008,476 (GRCm39) |
C488Y |
probably damaging |
Het |
| Supt16 |
A |
G |
14: 52,414,065 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,814,460 (GRCm39) |
Y1968C |
probably damaging |
Het |
| Tcaim |
T |
A |
9: 122,647,897 (GRCm39) |
Y137* |
probably null |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Tpm3 |
A |
T |
3: 89,997,389 (GRCm39) |
|
probably null |
Het |
| Trip12 |
A |
T |
1: 84,746,352 (GRCm39) |
N475K |
probably damaging |
Het |
| Twnk |
G |
T |
19: 44,996,815 (GRCm39) |
|
probably null |
Het |
| Zfp287 |
T |
C |
11: 62,616,115 (GRCm39) |
K192R |
probably damaging |
Het |
| Zfp799 |
G |
T |
17: 33,039,651 (GRCm39) |
T204N |
possibly 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 |
|
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 |
|
R1556:Pcdh8
|
UTSW |
14 |
80,007,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGCGCAGAGTCTCATAGTCAAAAC -3'
(R):5'- AGCCACCTGCAAGGTTATCGTG -3'
Sequencing Primer
(F):5'- AGAGTCTCATAGTCAAAACTACGG -3'
(R):5'- TACGGGCACGAGCACTTTAG -3'
|
| Posted On |
2014-03-28 |
Incidental Mutation