Incidental Mutation 'R8281:Pcdh8'
| ID |
638220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh8
|
| Ensembl Gene |
ENSMUSG00000036422 |
| Gene Name |
protocadherin 8 |
| Synonyms |
Papc, 1700080P15Rik |
| MMRRC Submission |
067704-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8281 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
80004224-80008752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80006919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 548
(V548A)
|
| 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: V548A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: V548A
| 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 |
probably damaging
Transcript: ENSMUST00000195355
AA Change: V548A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: V548A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (44/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
G |
A |
14: 68,745,334 (GRCm39) |
T630I |
possibly damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,402,301 (GRCm39) |
S576G |
possibly damaging |
Het |
| Asxl1 |
A |
G |
2: 153,241,321 (GRCm39) |
R625G |
probably damaging |
Het |
| Atp1a1 |
A |
G |
3: 101,486,940 (GRCm39) |
F916L |
probably benign |
Het |
| Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
| Ccdc168 |
T |
G |
1: 44,095,698 (GRCm39) |
D1800A |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,763,225 (GRCm39) |
D2350G |
probably damaging |
Het |
| Cic |
G |
A |
7: 24,971,249 (GRCm39) |
V327I |
probably benign |
Het |
| Crym |
T |
A |
7: 119,801,250 (GRCm39) |
|
probably benign |
Het |
| Cyp3a13 |
G |
C |
5: 137,892,559 (GRCm39) |
S495C |
probably benign |
Het |
| D5Ertd579e |
A |
T |
5: 36,770,664 (GRCm39) |
F137I |
|
Het |
| Dip2a |
T |
C |
10: 76,112,438 (GRCm39) |
T1087A |
probably damaging |
Het |
| Drc7 |
G |
A |
8: 95,788,805 (GRCm39) |
E288K |
possibly damaging |
Het |
| Epb41l4a |
T |
C |
18: 34,011,998 (GRCm39) |
E174G |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,769,483 (GRCm39) |
R848G |
probably damaging |
Het |
| F13b |
G |
T |
1: 139,438,689 (GRCm39) |
R364S |
probably benign |
Het |
| F2rl1 |
A |
G |
13: 95,650,585 (GRCm39) |
L99P |
probably damaging |
Het |
| Fam193a |
C |
A |
5: 34,600,780 (GRCm39) |
N171K |
unknown |
Het |
| Fst |
A |
G |
13: 114,591,777 (GRCm39) |
S201P |
probably benign |
Het |
| Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
| Gm8232 |
A |
G |
14: 44,674,548 (GRCm39) |
I182V |
|
Het |
| Iqca1l |
T |
A |
5: 24,754,008 (GRCm39) |
H417L |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,855,431 (GRCm39) |
W1956* |
probably null |
Het |
| Klk1b16 |
A |
G |
7: 43,790,971 (GRCm39) |
M258V |
probably benign |
Het |
| Lta4h |
G |
T |
10: 93,289,456 (GRCm39) |
D29Y |
probably damaging |
Het |
| Marchf7 |
C |
T |
2: 60,064,873 (GRCm39) |
S383L |
probably benign |
Het |
| Mob3c |
T |
C |
4: 115,688,635 (GRCm39) |
I56T |
probably benign |
Het |
| Msl2 |
T |
C |
9: 100,978,894 (GRCm39) |
S423P |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,235,901 (GRCm39) |
I511T |
possibly damaging |
Het |
| Pbld2 |
T |
G |
10: 62,883,805 (GRCm39) |
L90R |
probably damaging |
Het |
| Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
| Plch2 |
T |
A |
4: 155,091,430 (GRCm39) |
M228L |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,523,117 (GRCm39) |
C1180R |
probably damaging |
Het |
| Rasl2-9 |
A |
T |
7: 5,128,351 (GRCm39) |
L193* |
probably null |
Het |
| Rbp3 |
A |
G |
14: 33,678,320 (GRCm39) |
K756R |
probably benign |
Het |
| Rp1 |
T |
C |
1: 4,418,139 (GRCm39) |
E991G |
probably damaging |
Het |
| Slc12a7 |
G |
A |
13: 73,938,796 (GRCm39) |
R191H |
probably damaging |
Het |
| Spaca6 |
A |
G |
17: 18,052,321 (GRCm39) |
N87S |
possibly damaging |
Het |
| Spata31e5 |
C |
T |
1: 28,817,225 (GRCm39) |
C269Y |
possibly damaging |
Het |
| Speer1h |
T |
A |
5: 11,647,646 (GRCm39) |
M128K |
probably damaging |
Het |
| Stab2 |
A |
T |
10: 86,709,728 (GRCm39) |
V1639E |
probably damaging |
Het |
| Thpo |
T |
C |
16: 20,544,525 (GRCm39) |
N235S |
possibly damaging |
Het |
| Tmem63b |
T |
A |
17: 45,971,722 (GRCm39) |
H831L |
probably benign |
Het |
| Tomm20l |
T |
C |
12: 71,158,241 (GRCm39) |
V8A |
probably benign |
Het |
| Trav13-5 |
A |
G |
14: 54,032,918 (GRCm39) |
R3G |
possibly damaging |
Het |
| Vill |
T |
C |
9: 118,887,547 (GRCm39) |
S104P |
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 |
|
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 |
|
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'- AATGATCATTCTGGTCCAGCAC -3'
(R):5'- AGTACAACCTGACGCTGGTG -3'
Sequencing Primer
(F):5'- TCCAGCACCCGCACTTG -3'
(R):5'- TCTTCGCACCGTCAGGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation