Incidental Mutation 'R6620:Pcdha8'
ID |
528151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha8
|
Ensembl Gene |
ENSMUSG00000103800 |
Gene Name |
protocadherin alpha 8 |
Synonyms |
|
MMRRC Submission |
044743-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.200)
|
Stock # |
R6620 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37125520-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 37125581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 21
(I21T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142159
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000193839]
[ENSMUST00000195590]
[ENSMUST00000192512]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000194751]
[ENSMUST00000192631]
|
AlphaFold |
Q91Y12 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070797
|
SMART Domains |
Protein: ENSMUSP00000068828 Gene: ENSMUSG00000103442
Domain | Start | End | E-Value | Type |
CA
|
22 |
132 |
3.09e-2 |
SMART |
CA
|
156 |
241 |
6.14e-20 |
SMART |
CA
|
265 |
349 |
3.92e-27 |
SMART |
CA
|
373 |
454 |
4.94e-24 |
SMART |
CA
|
478 |
564 |
1e-24 |
SMART |
CA
|
592 |
672 |
4.55e-14 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
797 |
931 |
5.3e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
SMART Domains |
Protein: ENSMUSP00000111325 Gene: ENSMUSG00000103458
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115662
|
SMART Domains |
Protein: ENSMUSP00000111326 Gene: ENSMUSG00000104148
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
2.98e-18 |
SMART |
CA
|
264 |
348 |
2.17e-29 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
5.02e-25 |
SMART |
CA
|
594 |
675 |
8.16e-16 |
SMART |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
low complexity region
|
916 |
940 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192168
|
SMART Domains |
Protein: ENSMUSP00000142293 Gene: ENSMUSG00000103092
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
2.2e-2 |
SMART |
CA
|
155 |
240 |
2.05e-21 |
SMART |
CA
|
264 |
348 |
8.81e-21 |
SMART |
CA
|
372 |
453 |
2.01e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
591 |
673 |
1.63e-15 |
SMART |
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
low complexity region
|
902 |
926 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192295
|
SMART Domains |
Protein: ENSMUSP00000142103 Gene: ENSMUSG00000104252
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
568 |
5.38e-1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192503
|
SMART Domains |
Protein: ENSMUSP00000141989 Gene: ENSMUSG00000102312
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
17 |
N/A |
INTRINSIC |
CA
|
42 |
128 |
3.78e-2 |
SMART |
CA
|
152 |
237 |
8.94e-22 |
SMART |
CA
|
261 |
345 |
3.74e-24 |
SMART |
CA
|
369 |
450 |
1.09e-25 |
SMART |
CA
|
474 |
560 |
1.42e-24 |
SMART |
CA
|
588 |
670 |
2.96e-13 |
SMART |
transmembrane domain
|
692 |
714 |
N/A |
INTRINSIC |
low complexity region
|
910 |
934 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194038
AA Change: I21T
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000142159 Gene: ENSMUSG00000103800 AA Change: I21T
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
4.27e-19 |
SMART |
CA
|
264 |
348 |
2.04e-25 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
9.88e-24 |
SMART |
CA
|
594 |
676 |
8.62e-15 |
SMART |
transmembrane domain
|
699 |
721 |
N/A |
INTRINSIC |
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
SMART Domains |
Protein: ENSMUSP00000141847 Gene: ENSMUSG00000102836
Domain | Start | End | E-Value | Type |
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193839
|
SMART Domains |
Protein: ENSMUSP00000142308 Gene: ENSMUSG00000103442
Domain | Start | End | E-Value | Type |
CA
|
22 |
132 |
3.09e-2 |
SMART |
CA
|
156 |
241 |
6.14e-20 |
SMART |
CA
|
265 |
349 |
3.92e-27 |
SMART |
CA
|
373 |
454 |
4.94e-24 |
SMART |
CA
|
478 |
564 |
1e-24 |
SMART |
CA
|
592 |
672 |
4.55e-14 |
SMART |
transmembrane domain
|
694 |
716 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000195590
|
SMART Domains |
Protein: ENSMUSP00000141355 Gene: ENSMUSG00000104148
Domain | Start | End | E-Value | Type |
CA
|
45 |
131 |
6.34e-2 |
SMART |
CA
|
155 |
240 |
2.98e-18 |
SMART |
CA
|
264 |
348 |
2.17e-29 |
SMART |
CA
|
372 |
453 |
2.84e-24 |
SMART |
CA
|
477 |
563 |
5.02e-25 |
SMART |
CA
|
594 |
675 |
8.16e-16 |
SMART |
transmembrane domain
|
695 |
717 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192512
|
SMART Domains |
Protein: ENSMUSP00000141408 Gene: ENSMUSG00000104252
Domain | Start | End | E-Value | Type |
CA
|
20 |
131 |
5.3e-2 |
SMART |
CA
|
155 |
240 |
1.51e-19 |
SMART |
CA
|
264 |
348 |
7.6e-25 |
SMART |
CA
|
372 |
453 |
1.42e-24 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
674 |
4.12e-12 |
SMART |
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
low complexity region
|
915 |
939 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193389
|
SMART Domains |
Protein: ENSMUSP00000141459 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
5.67e-2 |
SMART |
CA
|
155 |
240 |
4.72e-21 |
SMART |
CA
|
264 |
348 |
1.9e-25 |
SMART |
CA
|
372 |
453 |
3.31e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
676 |
5.91e-13 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000193777
|
SMART Domains |
Protein: ENSMUSP00000141587 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
5.67e-2 |
SMART |
CA
|
155 |
240 |
4.72e-21 |
SMART |
CA
|
264 |
348 |
1.9e-25 |
SMART |
CA
|
372 |
453 |
3.31e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
676 |
5.91e-13 |
SMART |
low complexity region
|
914 |
938 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194751
|
SMART Domains |
Protein: ENSMUSP00000142285 Gene: ENSMUSG00000103707
Domain | Start | End | E-Value | Type |
low complexity region
|
15 |
21 |
N/A |
INTRINSIC |
Pfam:Cadherin_2
|
29 |
112 |
4.5e-32 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000192631
|
SMART Domains |
Protein: ENSMUSP00000142156 Gene: ENSMUSG00000104318
Domain | Start | End | E-Value | Type |
CA
|
21 |
131 |
2.58e-2 |
SMART |
CA
|
155 |
240 |
4.27e-19 |
SMART |
CA
|
264 |
348 |
1.42e-24 |
SMART |
CA
|
372 |
453 |
9.36e-25 |
SMART |
CA
|
477 |
563 |
1.42e-24 |
SMART |
CA
|
594 |
671 |
4.03e-6 |
SMART |
transmembrane domain
|
696 |
718 |
N/A |
INTRINSIC |
low complexity region
|
905 |
929 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194501
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (35/35) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad9 |
G |
T |
3: 36,120,294 (GRCm39) |
A13S |
possibly damaging |
Het |
Ahnak |
G |
A |
19: 8,992,674 (GRCm39) |
E4653K |
possibly damaging |
Het |
Apc2 |
C |
T |
10: 80,149,401 (GRCm39) |
P1485L |
probably damaging |
Het |
Atp9b |
A |
T |
18: 80,851,902 (GRCm39) |
L397* |
probably null |
Het |
Ces1e |
C |
A |
8: 93,950,546 (GRCm39) |
K79N |
probably damaging |
Het |
Col12a1 |
A |
C |
9: 79,527,331 (GRCm39) |
I2666M |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,570,355 (GRCm39) |
N361I |
probably benign |
Het |
Dock3 |
C |
A |
9: 106,815,125 (GRCm39) |
M1247I |
probably benign |
Het |
Evi5l |
C |
A |
8: 4,256,674 (GRCm39) |
A720E |
possibly damaging |
Het |
F5 |
T |
C |
1: 164,014,375 (GRCm39) |
F549L |
probably damaging |
Het |
Gpx2 |
T |
C |
12: 76,839,674 (GRCm39) |
N108S |
possibly damaging |
Het |
Ifnar1 |
T |
C |
16: 91,293,155 (GRCm39) |
|
probably null |
Het |
Kcnj16 |
T |
C |
11: 110,915,473 (GRCm39) |
V45A |
probably damaging |
Het |
Kng1 |
T |
C |
16: 22,900,232 (GRCm39) |
L402P |
possibly damaging |
Het |
Lct |
C |
A |
1: 128,222,809 (GRCm39) |
|
probably null |
Het |
Lmo7 |
G |
T |
14: 102,112,888 (GRCm39) |
K106N |
probably benign |
Het |
Map3k13 |
A |
T |
16: 21,711,061 (GRCm39) |
I115F |
possibly damaging |
Het |
Mapre2 |
T |
C |
18: 23,991,002 (GRCm39) |
V123A |
probably benign |
Het |
Mtfr1l |
A |
G |
4: 134,256,394 (GRCm39) |
|
probably null |
Het |
Or10g6 |
T |
A |
9: 39,934,225 (GRCm39) |
C179S |
probably damaging |
Het |
Or4c99 |
A |
G |
2: 88,356,743 (GRCm39) |
Y272C |
probably damaging |
Het |
Pbxip1 |
G |
A |
3: 89,355,133 (GRCm39) |
V551I |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,518,601 (GRCm39) |
R296Q |
probably damaging |
Het |
Psme2 |
A |
C |
14: 55,825,928 (GRCm39) |
D126E |
probably damaging |
Het |
Psmg2 |
T |
C |
18: 67,774,807 (GRCm39) |
|
probably null |
Het |
Ranbp2 |
A |
T |
10: 58,291,629 (GRCm39) |
|
probably null |
Het |
Sdr39u1 |
C |
T |
14: 56,135,172 (GRCm39) |
R257H |
probably damaging |
Het |
Sorbs2 |
G |
T |
8: 46,249,213 (GRCm39) |
R802S |
probably damaging |
Het |
Spata31 |
A |
G |
13: 65,067,571 (GRCm39) |
N78D |
possibly damaging |
Het |
Spatc1l |
A |
G |
10: 76,405,756 (GRCm39) |
D320G |
probably damaging |
Het |
Ttc8 |
T |
C |
12: 98,923,579 (GRCm39) |
Y212H |
possibly damaging |
Het |
Vmn2r112 |
G |
A |
17: 22,822,082 (GRCm39) |
M253I |
probably benign |
Het |
Zbed5 |
A |
G |
5: 129,932,130 (GRCm39) |
E693G |
possibly damaging |
Het |
Zfp808 |
T |
A |
13: 62,320,638 (GRCm39) |
N622K |
probably benign |
Het |
|
Other mutations in Pcdha8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0751:Pcdha8
|
UTSW |
18 |
37,127,123 (GRCm39) |
missense |
probably damaging |
0.98 |
R3416:Pcdha8
|
UTSW |
18 |
37,125,683 (GRCm39) |
missense |
probably benign |
0.11 |
R3755:Pcdha8
|
UTSW |
18 |
37,126,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R3756:Pcdha8
|
UTSW |
18 |
37,126,741 (GRCm39) |
missense |
probably damaging |
1.00 |
R3882:Pcdha8
|
UTSW |
18 |
37,126,624 (GRCm39) |
missense |
probably benign |
0.08 |
R3882:Pcdha8
|
UTSW |
18 |
37,126,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R4036:Pcdha8
|
UTSW |
18 |
37,125,914 (GRCm39) |
missense |
probably benign |
|
R4038:Pcdha8
|
UTSW |
18 |
37,125,914 (GRCm39) |
missense |
probably benign |
|
R4204:Pcdha8
|
UTSW |
18 |
37,127,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R4246:Pcdha8
|
UTSW |
18 |
37,125,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4596:Pcdha8
|
UTSW |
18 |
37,126,611 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4773:Pcdha8
|
UTSW |
18 |
37,127,626 (GRCm39) |
missense |
probably damaging |
1.00 |
R5124:Pcdha8
|
UTSW |
18 |
37,126,768 (GRCm39) |
missense |
probably benign |
0.09 |
R5396:Pcdha8
|
UTSW |
18 |
37,126,787 (GRCm39) |
missense |
probably damaging |
0.98 |
R5435:Pcdha8
|
UTSW |
18 |
37,126,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R5562:Pcdha8
|
UTSW |
18 |
37,126,024 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5896:Pcdha8
|
UTSW |
18 |
37,126,572 (GRCm39) |
missense |
probably benign |
0.01 |
R6277:Pcdha8
|
UTSW |
18 |
37,127,411 (GRCm39) |
missense |
probably damaging |
0.98 |
R6415:Pcdha8
|
UTSW |
18 |
37,127,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R6641:Pcdha8
|
UTSW |
18 |
37,126,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R6766:Pcdha8
|
UTSW |
18 |
37,127,753 (GRCm39) |
missense |
probably benign |
0.00 |
R6807:Pcdha8
|
UTSW |
18 |
37,127,401 (GRCm39) |
missense |
probably damaging |
0.99 |
R7120:Pcdha8
|
UTSW |
18 |
37,126,840 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7223:Pcdha8
|
UTSW |
18 |
37,126,201 (GRCm39) |
missense |
probably benign |
0.04 |
R7358:Pcdha8
|
UTSW |
18 |
37,125,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R7701:Pcdha8
|
UTSW |
18 |
37,126,864 (GRCm39) |
missense |
probably damaging |
1.00 |
R7712:Pcdha8
|
UTSW |
18 |
37,125,737 (GRCm39) |
missense |
possibly damaging |
0.63 |
R7883:Pcdha8
|
UTSW |
18 |
37,126,196 (GRCm39) |
missense |
probably damaging |
0.97 |
R8150:Pcdha8
|
UTSW |
18 |
37,126,264 (GRCm39) |
missense |
probably damaging |
1.00 |
R8685:Pcdha8
|
UTSW |
18 |
37,127,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R8705:Pcdha8
|
UTSW |
18 |
37,126,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R8743:Pcdha8
|
UTSW |
18 |
37,127,372 (GRCm39) |
missense |
probably benign |
0.00 |
R8956:Pcdha8
|
UTSW |
18 |
37,126,241 (GRCm39) |
missense |
probably benign |
0.00 |
R9068:Pcdha8
|
UTSW |
18 |
37,127,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R9076:Pcdha8
|
UTSW |
18 |
37,126,285 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9241:Pcdha8
|
UTSW |
18 |
37,127,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R9406:Pcdha8
|
UTSW |
18 |
37,126,922 (GRCm39) |
missense |
probably damaging |
1.00 |
R9467:Pcdha8
|
UTSW |
18 |
37,126,843 (GRCm39) |
missense |
possibly damaging |
0.62 |
R9512:Pcdha8
|
UTSW |
18 |
37,126,624 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9550:Pcdha8
|
UTSW |
18 |
37,127,399 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9607:Pcdha8
|
UTSW |
18 |
37,126,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R9708:Pcdha8
|
UTSW |
18 |
37,125,548 (GRCm39) |
missense |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTCCGGGAGAAAAGACGC -3'
(R):5'- GGTCGATCCGAGAATTCACAAAC -3'
Sequencing Primer
(F):5'- AAAGACGCTCCTTTCTTATTTAGTC -3'
(R):5'- CATTCTGCAGATTTACCTCCAGAAG -3'
|
Posted On |
2018-07-24 |