Incidental Mutation 'R1659:Pcdh8'
| ID |
186618 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh8
|
| Ensembl Gene |
ENSMUSG00000036422 |
| Gene Name |
protocadherin 8 |
| Synonyms |
Papc, 1700080P15Rik |
| MMRRC Submission |
039695-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1659 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
80004224-80008752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80005574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 938
(D938G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045333
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039568]
[ENSMUST00000195355]
|
| AlphaFold |
Q7TSK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039568
AA Change: D938G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: D938G
| 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 |
possibly damaging
Transcript: ENSMUST00000195355
AA Change: D841G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: D841G
| 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: 98.5%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap9 |
T |
A |
5: 4,114,633 (GRCm39) |
L87Q |
probably damaging |
Het |
| Atp13a5 |
T |
G |
16: 29,112,251 (GRCm39) |
D630A |
probably benign |
Het |
| Brd7 |
G |
T |
8: 89,060,420 (GRCm39) |
P568T |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,885,027 (GRCm39) |
L538P |
probably benign |
Het |
| Cd177 |
G |
T |
7: 24,445,562 (GRCm39) |
T627K |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Cdhr2 |
T |
A |
13: 54,867,574 (GRCm39) |
I468N |
probably damaging |
Het |
| Cdk14 |
T |
C |
5: 4,999,571 (GRCm39) |
T338A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,321,411 (GRCm39) |
T467I |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,554,581 (GRCm39) |
E380G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,511,246 (GRCm39) |
T158N |
probably benign |
Het |
| Ddx51 |
T |
A |
5: 110,802,986 (GRCm39) |
I254N |
probably damaging |
Het |
| Deptor |
G |
A |
15: 55,081,670 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
T |
A |
12: 118,084,459 (GRCm39) |
H1215L |
possibly damaging |
Het |
| Dock1 |
A |
G |
7: 134,390,972 (GRCm39) |
Y744C |
probably damaging |
Het |
| Dok7 |
C |
T |
5: 35,236,483 (GRCm39) |
T257I |
possibly damaging |
Het |
| Eif4g1 |
T |
C |
16: 20,499,811 (GRCm39) |
Y591H |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,479 (GRCm39) |
T2508A |
possibly damaging |
Het |
| Gm266 |
A |
G |
12: 111,451,723 (GRCm39) |
V161A |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,707,979 (GRCm39) |
I107V |
probably benign |
Het |
| Gpnmb |
T |
C |
6: 49,024,786 (GRCm39) |
F273L |
probably damaging |
Het |
| Hcn1 |
A |
T |
13: 118,112,610 (GRCm39) |
Q858L |
probably damaging |
Het |
| Hcrtr1 |
G |
T |
4: 130,029,129 (GRCm39) |
Y224* |
probably null |
Het |
| Hepacam |
A |
G |
9: 37,291,954 (GRCm39) |
D94G |
probably benign |
Het |
| Herc2 |
T |
A |
7: 55,784,853 (GRCm39) |
H1432Q |
probably benign |
Het |
| Il20 |
T |
A |
1: 130,836,086 (GRCm39) |
|
probably null |
Het |
| Itga10 |
A |
G |
3: 96,570,293 (GRCm39) |
T1150A |
probably damaging |
Het |
| Itgax |
C |
T |
7: 127,730,063 (GRCm39) |
T73I |
probably benign |
Het |
| Kdm6b |
T |
A |
11: 69,298,414 (GRCm39) |
Q98L |
possibly damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,867,045 (GRCm39) |
W899R |
probably damaging |
Het |
| Meikin |
C |
A |
11: 54,281,392 (GRCm39) |
S154* |
probably null |
Het |
| Mrgprg |
A |
T |
7: 143,318,288 (GRCm39) |
S275T |
possibly damaging |
Het |
| Mstn |
C |
T |
1: 53,103,236 (GRCm39) |
R191* |
probably null |
Het |
| Neu3 |
A |
G |
7: 99,462,640 (GRCm39) |
I361T |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 90,299,165 (GRCm39) |
D425G |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,211,723 (GRCm39) |
M1688K |
probably benign |
Het |
| Omg |
C |
T |
11: 79,393,726 (GRCm39) |
C44Y |
possibly damaging |
Het |
| Or1d2 |
A |
T |
11: 74,255,759 (GRCm39) |
Q88L |
probably benign |
Het |
| Or52n3 |
A |
G |
7: 104,530,387 (GRCm39) |
M158V |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,822,406 (GRCm39) |
D220G |
possibly damaging |
Het |
| Prune2 |
C |
T |
19: 17,098,015 (GRCm39) |
T1173I |
possibly damaging |
Het |
| Rbfox3 |
T |
C |
11: 118,384,981 (GRCm39) |
T359A |
probably damaging |
Het |
| Rhpn2 |
A |
G |
7: 35,076,466 (GRCm39) |
Y339C |
probably damaging |
Het |
| Rpl7a-ps3 |
A |
G |
15: 36,308,309 (GRCm39) |
|
noncoding transcript |
Het |
| Sars1 |
T |
C |
3: 108,336,732 (GRCm39) |
E217G |
probably damaging |
Het |
| Sec61a2 |
A |
G |
2: 5,891,345 (GRCm39) |
F62S |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,938,790 (GRCm39) |
I189N |
probably damaging |
Het |
| Slc5a10 |
G |
A |
11: 61,567,070 (GRCm39) |
A375V |
possibly damaging |
Het |
| Srfbp1 |
C |
T |
18: 52,621,967 (GRCm39) |
H343Y |
possibly damaging |
Het |
| Tbck |
T |
G |
3: 132,440,116 (GRCm39) |
I486M |
probably damaging |
Het |
| Thra |
G |
A |
11: 98,647,805 (GRCm39) |
A60T |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,504,063 (GRCm39) |
T364S |
possibly damaging |
Het |
| Ttc16 |
C |
T |
2: 32,652,547 (GRCm39) |
D761N |
probably benign |
Het |
| Vwa7 |
T |
C |
17: 35,238,047 (GRCm39) |
L216P |
probably benign |
Het |
| Ydjc |
T |
C |
16: 16,965,703 (GRCm39) |
V156A |
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 |
|
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 |
|
R1556:Pcdh8
|
UTSW |
14 |
80,007,843 (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'- TGCACAATGTCAACGGGGTCAG -3'
(R):5'- CAGGGAGATGTTTAACCTGTCGCAC -3'
Sequencing Primer
(F):5'- GGCACATGCTTTCCATGAAG -3'
(R):5'- TTACGGTGCCTCTCCAGG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation