Incidental Mutation 'R9558:Pcdh8'
| ID |
720878 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh8
|
| Ensembl Gene |
ENSMUSG00000036422 |
| Gene Name |
protocadherin 8 |
| Synonyms |
Papc, 1700080P15Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9558 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
80004224-80008752 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80006380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 728
(S728P)
|
| 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: S728P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: S728P
| 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: S728P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: S728P
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610028H24Rik |
C |
T |
10: 76,290,576 (GRCm39) |
P126L |
probably damaging |
Het |
| Adh7 |
T |
A |
3: 137,932,043 (GRCm39) |
I219N |
probably damaging |
Het |
| Ash1l |
A |
G |
3: 88,889,521 (GRCm39) |
S467G |
probably benign |
Het |
| Atm |
T |
C |
9: 53,412,081 (GRCm39) |
I992V |
probably benign |
Het |
| Bdnf |
T |
C |
2: 109,539,999 (GRCm39) |
V31A |
|
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccnk |
A |
T |
12: 108,155,397 (GRCm39) |
K118I |
possibly damaging |
Het |
| Ccr2 |
T |
A |
9: 123,906,104 (GRCm39) |
V128E |
possibly damaging |
Het |
| Cd163 |
C |
A |
6: 124,297,471 (GRCm39) |
N872K |
probably benign |
Het |
| Cd38 |
A |
G |
5: 44,057,792 (GRCm39) |
I121M |
probably damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,671,157 (GRCm39) |
|
probably null |
Het |
| Cyp11b1 |
T |
C |
15: 74,710,789 (GRCm39) |
E257G |
probably benign |
Het |
| Cyp2d40 |
T |
C |
15: 82,645,667 (GRCm39) |
T113A |
unknown |
Het |
| Ddx23 |
A |
G |
15: 98,545,433 (GRCm39) |
V625A |
possibly damaging |
Het |
| Dnaaf9 |
T |
C |
2: 130,617,660 (GRCm39) |
N433D |
probably damaging |
Het |
| Fbxw17 |
T |
C |
13: 50,577,311 (GRCm39) |
Y68H |
probably damaging |
Het |
| Fignl1 |
C |
T |
11: 11,751,778 (GRCm39) |
V426I |
possibly damaging |
Het |
| Ggn |
C |
G |
7: 28,871,973 (GRCm39) |
P487R |
probably damaging |
Het |
| Gjb6 |
G |
A |
14: 57,362,261 (GRCm39) |
|
probably benign |
Het |
| Gm5930 |
A |
G |
14: 44,576,014 (GRCm39) |
F2L |
possibly damaging |
Het |
| Il1r2 |
A |
G |
1: 40,162,422 (GRCm39) |
E355G |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,944,969 (GRCm39) |
H563Q |
possibly damaging |
Het |
| Jarid2 |
C |
T |
13: 45,068,253 (GRCm39) |
R1092W |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,124,004 (GRCm39) |
T2810A |
|
Het |
| Ltn1 |
A |
T |
16: 87,220,295 (GRCm39) |
S267R |
probably benign |
Het |
| Mapre2 |
T |
A |
18: 23,991,195 (GRCm39) |
H196Q |
possibly damaging |
Het |
| Mfap4 |
A |
C |
11: 61,376,965 (GRCm39) |
S65R |
probably benign |
Het |
| Mterf1a |
C |
T |
5: 3,941,807 (GRCm39) |
W20* |
probably null |
Het |
| Myh1 |
C |
G |
11: 67,108,618 (GRCm39) |
H1345D |
possibly damaging |
Het |
| Myh3 |
T |
A |
11: 66,983,316 (GRCm39) |
C948S |
possibly damaging |
Het |
| Ndufa8 |
A |
G |
2: 35,926,605 (GRCm39) |
S144P |
probably benign |
Het |
| Nudc |
G |
A |
4: 133,260,776 (GRCm39) |
R257C |
probably benign |
Het |
| Nufip1 |
A |
G |
14: 76,348,481 (GRCm39) |
M37V |
probably benign |
Het |
| Ogn |
A |
G |
13: 49,764,783 (GRCm39) |
E61G |
probably benign |
Het |
| Or52n5 |
T |
C |
7: 104,588,615 (GRCm39) |
V294A |
possibly damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,299,877 (GRCm39) |
D249G |
possibly damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Setd2 |
C |
T |
9: 110,376,628 (GRCm39) |
H148Y |
probably damaging |
Het |
| Smok2b |
G |
A |
17: 13,453,884 (GRCm39) |
G15R |
probably damaging |
Het |
| Sun1 |
A |
G |
5: 139,211,019 (GRCm39) |
T91A |
probably benign |
Het |
| Tbc1d31 |
G |
A |
15: 57,795,988 (GRCm39) |
A194T |
probably damaging |
Het |
| Tiparp |
C |
T |
3: 65,438,852 (GRCm39) |
S56F |
possibly damaging |
Het |
| Tmf1 |
C |
T |
6: 97,147,293 (GRCm39) |
E558K |
possibly damaging |
Het |
| Trip6 |
A |
G |
5: 137,309,075 (GRCm39) |
S344P |
probably benign |
Het |
| Ube2q1 |
A |
G |
3: 89,686,766 (GRCm39) |
K207E |
probably benign |
Het |
| Ubr2 |
A |
G |
17: 47,262,843 (GRCm39) |
V1256A |
probably benign |
Het |
| Vmn1r69 |
T |
A |
7: 10,314,185 (GRCm39) |
Y182F |
probably benign |
Het |
| Wipf1 |
C |
A |
2: 73,268,020 (GRCm39) |
R126L |
probably damaging |
Het |
| Zc3hav1 |
T |
C |
6: 38,331,042 (GRCm39) |
E39G |
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 |
|
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 |
|
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'- TGAGCACGTCGAACATGTTGG -3'
(R):5'- TGCTTACTGGAGACCTCTCG -3'
Sequencing Primer
(F):5'- CGTCGAACATGTTGGGCCTG -3'
(R):5'- CTCTCGCAGGAGCCTCC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation