Incidental Mutation 'R4038:Pcdha8'
| ID |
475345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha8
|
| Ensembl Gene |
ENSMUSG00000103800 |
| Gene Name |
protocadherin alpha 8 |
| Synonyms |
|
| MMRRC Submission |
040965-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.194)
|
| Stock # |
R4038 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37125520-37320710 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37125914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 132
(M132T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142159
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000193389]
[ENSMUST00000192631]
[ENSMUST00000195590]
[ENSMUST00000193839]
[ENSMUST00000194751]
[ENSMUST00000193777]
|
| 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: 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: ENSMUST00000194038
AA Change: M132T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800
AA Change: M132T
| 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 |
noncoding transcript
Transcript: ENSMUST00000194501
|
| 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: 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: 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 |
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: 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: 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: 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.1%
|
| Validation Efficiency |
93% (39/42) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ate1 |
A |
G |
7: 130,106,495 (GRCm39) |
S282P |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,788,040 (GRCm39) |
Q1610L |
probably damaging |
Het |
| Carmil2 |
C |
A |
8: 106,422,039 (GRCm39) |
R1103S |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,460,994 (GRCm39) |
Y219F |
probably benign |
Het |
| Creb3l3 |
A |
G |
10: 80,925,172 (GRCm39) |
V224A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,774,247 (GRCm39) |
D72V |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,431,075 (GRCm39) |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,063,135 (GRCm39) |
V335D |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,767,405 (GRCm39) |
W696R |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,740,343 (GRCm39) |
M329R |
probably damaging |
Het |
| Gm4787 |
A |
T |
12: 81,425,132 (GRCm39) |
F342Y |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,457,687 (GRCm39) |
L80I |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,772,073 (GRCm39) |
I82V |
possibly damaging |
Het |
| Greb1l |
C |
T |
18: 10,515,209 (GRCm39) |
T558I |
possibly damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,800,591 (GRCm39) |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,452,542 (GRCm39) |
V412A |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,587 (GRCm39) |
V306A |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,225,275 (GRCm39) |
N182S |
probably benign |
Het |
| Metrn |
T |
C |
17: 26,013,984 (GRCm39) |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,773,563 (GRCm39) |
|
noncoding transcript |
Het |
| Mmachc |
T |
A |
4: 116,563,215 (GRCm39) |
T47S |
probably damaging |
Het |
| Nfia |
C |
A |
4: 97,909,074 (GRCm39) |
R277S |
probably damaging |
Het |
| Or9m2 |
T |
A |
2: 87,821,262 (GRCm39) |
I269N |
possibly damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,908,444 (GRCm39) |
N144D |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,114,805 (GRCm39) |
R150H |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,509,449 (GRCm39) |
D309E |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,743,011 (GRCm39) |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 39,932,620 (GRCm39) |
H314D |
possibly damaging |
Het |
| Slc28a2 |
C |
A |
2: 122,284,996 (GRCm39) |
A328E |
probably benign |
Het |
| Ssc4d |
C |
A |
5: 135,999,170 (GRCm39) |
W11L |
possibly damaging |
Het |
| Sycp2 |
C |
A |
2: 178,022,720 (GRCm39) |
M470I |
possibly damaging |
Het |
| Tfap2c |
A |
T |
2: 172,398,110 (GRCm39) |
S413C |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,441,188 (GRCm39) |
|
probably null |
Het |
| Vmn1r218 |
T |
C |
13: 23,320,971 (GRCm39) |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,458,813 (GRCm39) |
G56D |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,578,198 (GRCm39) |
E429G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 29,997,535 (GRCm39) |
N457S |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 177,709,777 (GRCm39) |
Q203L |
possibly damaging |
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 |
|
|
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 |
|
R6620:Pcdha8
|
UTSW |
18 |
37,125,581 (GRCm39) |
missense |
probably benign |
0.18 |
|
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 |
|
| Posted On |
2017-04-14 |
Incidental Mutation