Incidental Mutation 'R5778:Pcdh8'
| ID |
446846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdh8
|
| Ensembl Gene |
ENSMUSG00000036422 |
| Gene Name |
protocadherin 8 |
| Synonyms |
Papc, 1700080P15Rik |
| MMRRC Submission |
043376-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5778 (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 80008197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 122
(E122G)
|
| 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: E122G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: E122G
| 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: E122G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: E122G
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
A |
G |
8: 124,618,864 (GRCm39) |
S340P |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,486,139 (GRCm39) |
T528A |
probably benign |
Het |
| Apob |
T |
A |
12: 8,065,074 (GRCm39) |
D4014E |
probably benign |
Het |
| Atp23 |
A |
G |
10: 126,735,451 (GRCm39) |
C78R |
probably damaging |
Het |
| Atp8b3 |
A |
G |
10: 80,356,007 (GRCm39) |
F1235S |
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,582 (GRCm39) |
D262G |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,012,863 (GRCm39) |
I1848F |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,416,127 (GRCm39) |
A669V |
possibly damaging |
Het |
| Caprin2 |
A |
T |
6: 148,770,820 (GRCm39) |
S391R |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,326 (GRCm39) |
R43Q |
possibly damaging |
Het |
| Celsr1 |
A |
T |
15: 85,917,156 (GRCm39) |
N272K |
probably damaging |
Het |
| Cryzl2 |
T |
G |
1: 157,298,357 (GRCm39) |
S249A |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,542,279 (GRCm39) |
T929S |
possibly damaging |
Het |
| Dusp16 |
G |
T |
6: 134,695,277 (GRCm39) |
T518N |
probably benign |
Het |
| Eno2 |
A |
T |
6: 124,743,261 (GRCm39) |
H158Q |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,867,450 (GRCm39) |
D954G |
unknown |
Het |
| Erg28 |
T |
C |
12: 85,866,254 (GRCm39) |
T75A |
possibly damaging |
Het |
| Fam135b |
T |
A |
15: 71,350,881 (GRCm39) |
T332S |
probably damaging |
Het |
| Fam221b |
A |
G |
4: 43,660,683 (GRCm39) |
F357L |
probably damaging |
Het |
| Fcgr2b |
C |
T |
1: 170,790,957 (GRCm39) |
G279R |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,230,121 (GRCm39) |
L1679M |
probably damaging |
Het |
| Galm |
T |
A |
17: 80,435,146 (GRCm39) |
M1K |
probably null |
Het |
| Gsg1 |
A |
T |
6: 135,221,348 (GRCm39) |
I17N |
possibly damaging |
Het |
| Hif3a |
A |
T |
7: 16,785,909 (GRCm39) |
I129N |
probably damaging |
Het |
| Ighv1-11 |
A |
T |
12: 114,576,051 (GRCm39) |
W55R |
probably damaging |
Het |
| Ighv1-20 |
C |
A |
12: 114,687,497 (GRCm39) |
K82N |
probably benign |
Het |
| Igsf21 |
C |
T |
4: 139,764,832 (GRCm39) |
E148K |
probably benign |
Het |
| Il22b |
C |
A |
10: 118,130,768 (GRCm39) |
E43* |
probably null |
Het |
| Klhdc7b |
A |
T |
15: 89,271,523 (GRCm39) |
R802W |
probably damaging |
Het |
| Krt8 |
T |
C |
15: 101,912,374 (GRCm39) |
I101V |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,876,380 (GRCm39) |
L570P |
probably damaging |
Het |
| Map4k1 |
C |
G |
7: 28,693,646 (GRCm39) |
N412K |
probably benign |
Het |
| Metrnl |
A |
T |
11: 121,605,564 (GRCm39) |
I118F |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,350,106 (GRCm39) |
D202E |
probably damaging |
Het |
| Mpp2 |
A |
T |
11: 101,955,269 (GRCm39) |
S119T |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,688 (GRCm39) |
T1539A |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,206,154 (GRCm39) |
T715A |
possibly damaging |
Het |
| Nsd1 |
T |
A |
13: 55,454,792 (GRCm39) |
N1963K |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,149,834 (GRCm39) |
Y340H |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,419,745 (GRCm39) |
S977T |
probably damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,961 (GRCm39) |
Y134F |
probably damaging |
Het |
| Or7d10 |
G |
T |
9: 19,832,337 (GRCm39) |
M277I |
probably benign |
Het |
| Pcmtd2 |
A |
C |
2: 181,496,991 (GRCm39) |
T323P |
probably benign |
Het |
| Pign |
C |
A |
1: 105,519,447 (GRCm39) |
G492C |
probably damaging |
Het |
| Plppr3 |
A |
G |
10: 79,702,337 (GRCm39) |
V245A |
possibly damaging |
Het |
| Prl7a2 |
C |
T |
13: 27,844,983 (GRCm39) |
W134* |
probably null |
Het |
| Prom1 |
A |
T |
5: 44,164,389 (GRCm39) |
N722K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,988,860 (GRCm39) |
N663K |
probably damaging |
Het |
| Rgl1 |
G |
T |
1: 152,428,172 (GRCm39) |
H315Q |
probably benign |
Het |
| Smpdl3a |
C |
A |
10: 57,677,097 (GRCm39) |
A65E |
probably damaging |
Het |
| Spdye4b |
G |
A |
5: 143,188,142 (GRCm39) |
D212N |
probably damaging |
Het |
| Tafa3 |
T |
A |
3: 104,679,505 (GRCm39) |
K126N |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,529,691 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,856,250 (GRCm39) |
V706A |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,033,805 (GRCm39) |
Q201L |
probably damaging |
Het |
| Ubqln1 |
C |
T |
13: 58,331,131 (GRCm39) |
M365I |
probably benign |
Het |
| Usp42 |
A |
T |
5: 143,705,331 (GRCm39) |
Y383N |
probably damaging |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,552 (GRCm39) |
I95T |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,274 (GRCm39) |
S819R |
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 |
|
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'- AACTCCTGTAGCAGCACCAG -3'
(R):5'- TCCGCCTGATGAAGCAATTC -3'
Sequencing Primer
(F):5'- TGTAGCAGCACCAGGTCCG -3'
(R):5'- GATGAAGCAATTCAACAGCTCTCTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation