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 | |
|---|
| Is this an essential gene? |
Probably non essential (E-score: 0.158)
|
|---|
| Stock # | R4038 (G1)
|
|---|
| Quality Score | 225 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 18 |
|---|
| Chromosomal Location | 36992371-37187657 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 36992861 bp
|
|---|
| 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]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193777]
[ENSMUST00000193839]
[ENSMUST00000194038]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
|---|
| 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: 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: 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: 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: ENSMUST00000193984
|
|---|
| 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: 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: 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 |
|
|---|
| 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: 130,504,765 |
S282P |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 30,066,083 |
Q1610L |
probably damaging |
Het |
| Carmil2 |
C |
A |
8: 105,695,407 |
R1103S |
probably damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,755,233 |
Y219F |
probably benign |
Het |
| Creb3l3 |
A |
G |
10: 81,089,338 |
V224A |
probably benign |
Het |
| Crnkl1 |
T |
A |
2: 145,932,327 |
D72V |
possibly damaging |
Het |
| Dhcr24 |
T |
C |
4: 106,573,878 |
F255L |
probably benign |
Het |
| Eef2kmt |
A |
T |
16: 5,245,271 |
V335D |
probably damaging |
Het |
| Elp2 |
T |
A |
18: 24,634,348 |
W696R |
probably damaging |
Het |
| Glb1l3 |
A |
C |
9: 26,829,047 |
M329R |
probably damaging |
Het |
| Gm4787 |
A |
T |
12: 81,378,358 |
F342Y |
probably damaging |
Het |
| Gpr137c |
C |
A |
14: 45,220,230 |
L80I |
probably damaging |
Het |
| Gpr83 |
A |
G |
9: 14,860,777 |
I82V |
possibly damaging |
Het |
| Greb1l |
C |
T |
18: 10,515,209 |
T558I |
possibly damaging |
Het |
| Hnrnpul2 |
T |
A |
19: 8,823,227 |
|
probably benign |
Het |
| Hspa2 |
T |
C |
12: 76,405,768 |
V412A |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,602,522 |
V306A |
probably damaging |
Het |
| Lmod3 |
T |
C |
6: 97,248,314 |
N182S |
probably benign |
Het |
| Metrn |
T |
C |
17: 25,795,010 |
T281A |
probably benign |
Het |
| Mid1-ps1 |
G |
A |
Y: 90,762,294 |
|
noncoding transcript |
Het |
| Mmachc |
T |
A |
4: 116,706,018 |
T47S |
probably damaging |
Het |
| Nfia |
C |
A |
4: 98,020,837 |
R277S |
probably damaging |
Het |
| Olfr1158 |
T |
A |
2: 87,990,918 |
I269N |
possibly damaging |
Het |
| Prkaa2 |
T |
C |
4: 105,051,247 |
N144D |
probably damaging |
Het |
| Ptprf |
C |
T |
4: 118,257,608 |
R150H |
probably damaging |
Het |
| Sfmbt1 |
T |
G |
14: 30,787,492 |
D309E |
probably damaging |
Het |
| Skint5 |
G |
T |
4: 113,885,814 |
T352K |
unknown |
Het |
| Slc16a10 |
G |
C |
10: 40,056,624 |
H314D |
possibly damaging |
Het |
| Slc28a2 |
C |
A |
2: 122,454,515 |
A328E |
probably benign |
Het |
| Ssc4d |
C |
A |
5: 135,970,316 |
W11L |
possibly damaging |
Het |
| Sycp2 |
C |
A |
2: 178,380,927 |
M470I |
possibly damaging |
Het |
| Tfap2c |
A |
T |
2: 172,556,190 |
S413C |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,533,906 |
|
probably null |
Het |
| Vmn1r218 |
T |
C |
13: 23,136,801 |
V26A |
possibly damaging |
Het |
| Wipf3 |
G |
A |
6: 54,481,828 |
G56D |
probably damaging |
Het |
| Wiz |
T |
C |
17: 32,359,224 |
E429G |
probably damaging |
Het |
| Zer1 |
T |
C |
2: 30,107,523 |
N457S |
probably damaging |
Het |
| Zfp931 |
T |
A |
2: 178,067,984 |
Q203L |
possibly damaging |
Het |
|
|---|
| Other mutations in Pcdha8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0751:Pcdha8
|
UTSW |
18 |
36994070 |
missense |
probably damaging |
0.98 |
|
R3416:Pcdha8
|
UTSW |
18 |
36992630 |
missense |
probably benign |
0.11 |
|
R3755:Pcdha8
|
UTSW |
18 |
36993688 |
missense |
probably damaging |
1.00 |
|
R3756:Pcdha8
|
UTSW |
18 |
36993688 |
missense |
probably damaging |
1.00 |
|
R3882:Pcdha8
|
UTSW |
18 |
36993046 |
missense |
probably damaging |
1.00 |
|
R3882:Pcdha8
|
UTSW |
18 |
36993571 |
missense |
probably benign |
0.08 |
|
R4036:Pcdha8
|
UTSW |
18 |
36992861 |
missense |
probably benign |
|
|
R4204:Pcdha8
|
UTSW |
18 |
36994684 |
missense |
probably damaging |
1.00 |
|
R4246:Pcdha8
|
UTSW |
18 |
36992897 |
missense |
probably damaging |
1.00 |
|
R4596:Pcdha8
|
UTSW |
18 |
36993558 |
missense |
possibly damaging |
0.89 |
|
R4773:Pcdha8
|
UTSW |
18 |
36994573 |
missense |
probably damaging |
1.00 |
|
R5124:Pcdha8
|
UTSW |
18 |
36993715 |
missense |
probably benign |
0.09 |
|
R5396:Pcdha8
|
UTSW |
18 |
36993734 |
missense |
probably damaging |
0.98 |
|
R5435:Pcdha8
|
UTSW |
18 |
36993599 |
missense |
probably damaging |
1.00 |
|
R5562:Pcdha8
|
UTSW |
18 |
36992971 |
missense |
possibly damaging |
0.93 |
|
R5896:Pcdha8
|
UTSW |
18 |
36993519 |
missense |
probably benign |
0.01 |
|
R6277:Pcdha8
|
UTSW |
18 |
36994358 |
missense |
probably damaging |
0.98 |
|
R6415:Pcdha8
|
UTSW |
18 |
36994561 |
missense |
probably damaging |
1.00 |
|
R6620:Pcdha8
|
UTSW |
18 |
36992528 |
missense |
probably benign |
0.18 |
|
R6641:Pcdha8
|
UTSW |
18 |
36993797 |
missense |
probably damaging |
1.00 |
|
R6766:Pcdha8
|
UTSW |
18 |
36994700 |
missense |
probably benign |
0.00 |
|
R6807:Pcdha8
|
UTSW |
18 |
36994348 |
missense |
probably damaging |
0.99 |
|
R7120:Pcdha8
|
UTSW |
18 |
36993787 |
missense |
possibly damaging |
0.79 |
|
R7223:Pcdha8
|
UTSW |
18 |
36993148 |
missense |
probably benign |
0.04 |
|
R7358:Pcdha8
|
UTSW |
18 |
36992777 |
missense |
probably damaging |
1.00 |
|
R7701:Pcdha8
|
UTSW |
18 |
36993811 |
missense |
probably damaging |
1.00 |
|
R7712:Pcdha8
|
UTSW |
18 |
36992684 |
missense |
possibly damaging |
0.63 |
|
|---|
| Predicted Primers |
|
|---|
| Posted On | 2017-04-14 |
|---|
