Incidental Mutation 'R5187:Pcdh8'
ID |
397981 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdh8
|
Ensembl Gene |
ENSMUSG00000036422 |
Gene Name |
protocadherin 8 |
Synonyms |
Papc, 1700080P15Rik |
MMRRC Submission |
042766-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5187 (G1)
|
Quality Score |
224 |
Status
|
Not validated
|
Chromosome |
14 |
Chromosomal Location |
80004224-80008752 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80007594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 323
(D323G)
|
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: D323G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000045333 Gene: ENSMUSG00000036422 AA Change: D323G
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: D323G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141417 Gene: ENSMUSG00000036422 AA Change: D323G
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: 97.3%
- 20x: 95.5%
|
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 |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
Abcg5 |
A |
G |
17: 84,965,992 (GRCm39) |
L628S |
probably damaging |
Het |
Acbd3 |
C |
T |
1: 180,564,297 (GRCm39) |
R201* |
probably null |
Het |
Adsl |
A |
G |
15: 80,833,106 (GRCm39) |
|
probably benign |
Het |
Asic1 |
GCACC |
GCACCACC |
15: 99,596,684 (GRCm39) |
|
probably benign |
Het |
Cachd1 |
T |
C |
4: 100,823,397 (GRCm39) |
V483A |
possibly damaging |
Het |
Calm1 |
T |
C |
12: 100,166,472 (GRCm39) |
S19P |
probably benign |
Het |
Casq1 |
T |
C |
1: 172,040,641 (GRCm39) |
N313S |
possibly damaging |
Het |
Cav2 |
G |
T |
6: 17,286,935 (GRCm39) |
A64S |
possibly damaging |
Het |
Ccdc167 |
C |
A |
17: 29,924,485 (GRCm39) |
A39S |
possibly damaging |
Het |
Cd274 |
T |
C |
19: 29,359,936 (GRCm39) |
L247P |
probably benign |
Het |
Cdhr5 |
T |
C |
7: 140,854,361 (GRCm39) |
E138G |
probably damaging |
Het |
Cltb |
C |
T |
13: 54,741,693 (GRCm39) |
C81Y |
probably benign |
Het |
Clvs1 |
T |
C |
4: 9,281,865 (GRCm39) |
L103P |
possibly damaging |
Het |
Cntrob |
G |
T |
11: 69,212,717 (GRCm39) |
Q106K |
possibly damaging |
Het |
Ctsh |
T |
C |
9: 89,936,643 (GRCm39) |
L14P |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,292,379 (GRCm39) |
N3268S |
probably damaging |
Het |
Cyb5r4 |
T |
C |
9: 86,909,001 (GRCm39) |
V26A |
possibly damaging |
Het |
Ddx18 |
A |
G |
1: 121,489,857 (GRCm39) |
I184T |
probably damaging |
Het |
Ddx60 |
T |
A |
8: 62,427,222 (GRCm39) |
W766R |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dnah5 |
G |
A |
15: 28,272,318 (GRCm39) |
V1041I |
probably benign |
Het |
Dnajc21 |
A |
T |
15: 10,464,050 (GRCm39) |
N38K |
probably benign |
Het |
Ermap |
T |
C |
4: 119,043,015 (GRCm39) |
|
probably null |
Het |
Fryl |
A |
G |
5: 73,243,943 (GRCm39) |
L1209P |
possibly damaging |
Het |
Gm5093 |
T |
C |
17: 46,750,799 (GRCm39) |
E76G |
possibly damaging |
Het |
Grk6 |
T |
C |
13: 55,599,519 (GRCm39) |
C169R |
probably damaging |
Het |
Hmgn1 |
A |
T |
16: 95,923,627 (GRCm39) |
|
probably null |
Het |
Lpcat2b |
T |
A |
5: 107,582,001 (GRCm39) |
Y443* |
probably null |
Het |
Macf1 |
T |
A |
4: 123,365,882 (GRCm39) |
M1395L |
probably benign |
Het |
Mllt10 |
C |
T |
2: 18,213,585 (GRCm39) |
Q997* |
probably null |
Het |
Mocos |
T |
A |
18: 24,825,611 (GRCm39) |
V722E |
probably damaging |
Het |
Moxd2 |
A |
T |
6: 40,856,271 (GRCm39) |
L534M |
probably benign |
Het |
Mphosph10 |
T |
C |
7: 64,035,568 (GRCm39) |
M368V |
possibly damaging |
Het |
Myo15a |
G |
A |
11: 60,394,440 (GRCm39) |
G2383D |
probably damaging |
Het |
Myo5b |
T |
C |
18: 74,834,745 (GRCm39) |
I935T |
possibly damaging |
Het |
Ndst4 |
T |
A |
3: 125,231,560 (GRCm39) |
L43H |
probably damaging |
Het |
Niban1 |
T |
A |
1: 151,579,580 (GRCm39) |
L433Q |
possibly damaging |
Het |
Nsl1 |
A |
G |
1: 190,807,387 (GRCm39) |
N189D |
probably benign |
Het |
Odad1 |
A |
G |
7: 45,578,540 (GRCm39) |
I77V |
probably damaging |
Het |
Or51e1 |
A |
T |
7: 102,358,868 (GRCm39) |
H134L |
probably damaging |
Het |
Pkhd1 |
A |
G |
1: 20,279,448 (GRCm39) |
S2957P |
possibly damaging |
Het |
Prdm9 |
T |
G |
17: 15,783,155 (GRCm39) |
E42D |
probably damaging |
Het |
Rasal1 |
C |
A |
5: 120,813,460 (GRCm39) |
H611Q |
probably benign |
Het |
Relch |
T |
A |
1: 105,646,534 (GRCm39) |
L620* |
probably null |
Het |
Rif1 |
T |
A |
2: 51,971,301 (GRCm39) |
W260R |
probably damaging |
Het |
Rpain |
A |
G |
11: 70,864,658 (GRCm39) |
D115G |
probably benign |
Het |
Rpl3l |
T |
C |
17: 24,951,429 (GRCm39) |
V110A |
possibly damaging |
Het |
Ryr2 |
T |
A |
13: 11,787,338 (GRCm39) |
I1012F |
probably damaging |
Het |
Sema4f |
A |
G |
6: 82,894,631 (GRCm39) |
V480A |
probably benign |
Het |
Slc35a3 |
T |
A |
3: 116,474,794 (GRCm39) |
K199N |
probably damaging |
Het |
Slc5a6 |
T |
C |
5: 31,200,322 (GRCm39) |
Y121C |
probably damaging |
Het |
Slc7a14 |
T |
C |
3: 31,291,514 (GRCm39) |
|
probably null |
Het |
Sort1 |
T |
A |
3: 108,231,992 (GRCm39) |
I172N |
probably damaging |
Het |
Spink5 |
C |
A |
18: 44,122,518 (GRCm39) |
H328N |
probably damaging |
Het |
Tbl1xr1 |
A |
G |
3: 22,263,770 (GRCm39) |
D504G |
probably damaging |
Het |
Tcaf3 |
C |
T |
6: 42,573,954 (GRCm39) |
C86Y |
possibly damaging |
Het |
Tfap2e |
T |
C |
4: 126,628,434 (GRCm39) |
D174G |
probably benign |
Het |
Tmem42 |
T |
C |
9: 122,851,232 (GRCm39) |
V65A |
probably damaging |
Het |
Vmn1r225 |
C |
G |
17: 20,723,177 (GRCm39) |
T206R |
probably damaging |
Het |
Vmn2r38 |
A |
G |
7: 9,100,571 (GRCm39) |
F65S |
probably benign |
Het |
Vmn2r87 |
A |
T |
10: 130,333,208 (GRCm39) |
L14Q |
probably null |
Het |
Xirp2 |
T |
C |
2: 67,345,711 (GRCm39) |
S2651P |
probably benign |
Het |
Zfp429 |
G |
A |
13: 67,538,959 (GRCm39) |
L162F |
probably damaging |
Het |
Zhx1 |
A |
T |
15: 57,915,819 (GRCm39) |
M809K |
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 |
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'- TAAAGTGCTCGTGCCCGTAG -3'
(R):5'- GCTAGATGCCAATGACCACAGC -3'
Sequencing Primer
(F):5'- AGGTGATACCGGCTTCCTG -3'
(R):5'- AATTGGCCGAGGACGCAC -3'
|
Posted On |
2016-07-06 |