Incidental Mutation 'R9094:Pcdha6'
ID |
691248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha6
|
Ensembl Gene |
ENSMUSG00000103707 |
Gene Name |
protocadherin alpha 6 |
Synonyms |
Cnr2, Crnr2 |
MMRRC Submission |
068909-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R9094 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37100684-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 37101593 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 262
(I262N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000193777]
[ENSMUST00000193389]
[ENSMUST00000193839]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000195590]
|
AlphaFold |
Q91Y14 |
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 damaging
Transcript: ENSMUST00000193777
AA Change: I262N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141587 Gene: ENSMUSG00000103707 AA Change: I262N
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 damaging
Transcript: ENSMUST00000193389
AA Change: I262N
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000141459 Gene: ENSMUSG00000103707 AA Change: I262N
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: 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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
96% (67/70) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3110021N24Rik |
T |
C |
4: 108,637,744 (GRCm39) |
V37A |
unknown |
Het |
3425401B19Rik |
G |
A |
14: 32,382,614 (GRCm39) |
S1117L |
possibly damaging |
Het |
Abi3bp |
A |
G |
16: 56,456,590 (GRCm39) |
I1021V |
probably benign |
Het |
Agrn |
C |
A |
4: 156,253,264 (GRCm39) |
K1848N |
probably benign |
Het |
Anln |
A |
G |
9: 22,249,283 (GRCm39) |
V1005A |
probably benign |
Het |
Arb2a |
A |
G |
13: 78,311,725 (GRCm39) |
K356R |
possibly damaging |
Het |
Arid3b |
A |
G |
9: 57,741,327 (GRCm39) |
Y40H |
probably damaging |
Het |
Bco1 |
A |
C |
8: 117,859,917 (GRCm39) |
D540A |
probably benign |
Het |
Blnk |
A |
G |
19: 40,982,482 (GRCm39) |
I7T |
probably benign |
Het |
Brca2 |
T |
G |
5: 150,475,770 (GRCm39) |
D2493E |
probably benign |
Het |
Bsn |
T |
A |
9: 107,988,052 (GRCm39) |
M2567L |
unknown |
Het |
Cacna1e |
T |
A |
1: 154,355,064 (GRCm39) |
Y693F |
possibly damaging |
Het |
Catsperg1 |
G |
C |
7: 28,884,152 (GRCm39) |
T987R |
probably damaging |
Het |
Cpa4 |
G |
T |
6: 30,574,393 (GRCm39) |
D61Y |
possibly damaging |
Het |
Cpne1 |
A |
C |
2: 155,921,080 (GRCm39) |
V70G |
probably damaging |
Het |
Dnase1l3 |
A |
T |
14: 7,987,306 (GRCm38) |
N81K |
probably damaging |
Het |
Duxf3 |
GCCC |
GCC |
10: 58,066,944 (GRCm39) |
|
probably null |
Het |
Fbxo31 |
G |
A |
8: 122,281,136 (GRCm39) |
R337C |
probably damaging |
Het |
Fbxo34 |
C |
G |
14: 47,767,928 (GRCm39) |
H480Q |
probably benign |
Het |
Frmd4b |
T |
C |
6: 97,398,559 (GRCm39) |
E96G |
|
Het |
Gdpgp1 |
T |
A |
7: 79,888,216 (GRCm39) |
D82E |
probably benign |
Het |
Gjb3 |
GCCAGATGCGCCCA |
GCCAGATGCGCCCAGATGCGCCCA |
4: 127,220,458 (GRCm39) |
|
probably null |
Het |
Grpel1 |
A |
G |
5: 36,626,823 (GRCm39) |
N35S |
probably benign |
Het |
Il12rb1 |
A |
G |
8: 71,273,291 (GRCm39) |
T665A |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,301,559 (GRCm39) |
T886A |
probably benign |
Het |
Insig1 |
T |
A |
5: 28,278,570 (GRCm39) |
C128* |
probably null |
Het |
Kcnk10 |
T |
A |
12: 98,484,775 (GRCm39) |
E120D |
probably benign |
Het |
Kctd1 |
T |
C |
18: 15,195,369 (GRCm39) |
N418S |
possibly damaging |
Het |
Kifbp |
A |
G |
10: 62,395,037 (GRCm39) |
V535A |
probably damaging |
Het |
Klhl20 |
T |
A |
1: 160,933,055 (GRCm39) |
H251L |
probably damaging |
Het |
Ldlrad3 |
T |
C |
2: 101,888,326 (GRCm39) |
D127G |
probably damaging |
Het |
Lrp3 |
T |
C |
7: 34,903,182 (GRCm39) |
Y388C |
probably damaging |
Het |
Lrrc4 |
G |
A |
6: 28,830,206 (GRCm39) |
R47W |
possibly damaging |
Het |
Luzp1 |
A |
T |
4: 136,272,562 (GRCm39) |
D1022V |
probably damaging |
Het |
Mllt1 |
C |
A |
17: 57,212,737 (GRCm39) |
R132L |
probably damaging |
Het |
Ncoa1 |
G |
T |
12: 4,345,494 (GRCm39) |
H618N |
possibly damaging |
Het |
Nelfcd |
T |
C |
2: 174,265,861 (GRCm39) |
S318P |
probably damaging |
Het |
Ngly1 |
A |
C |
14: 16,280,721 (GRCm38) |
T301P |
probably damaging |
Het |
Npy5r |
G |
A |
8: 67,133,560 (GRCm39) |
T411I |
probably damaging |
Het |
Or55b10 |
T |
C |
7: 102,143,568 (GRCm39) |
E138G |
possibly damaging |
Het |
Or5d46 |
A |
G |
2: 88,170,248 (GRCm39) |
N113S |
probably benign |
Het |
Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
Pm20d1 |
C |
A |
1: 131,730,481 (GRCm39) |
A245D |
possibly damaging |
Het |
Rars1 |
T |
C |
11: 35,718,182 (GRCm39) |
|
probably benign |
Het |
Rbms2 |
T |
A |
10: 127,987,107 (GRCm39) |
I62F |
probably damaging |
Het |
Rev3l |
A |
T |
10: 39,700,809 (GRCm39) |
T1769S |
probably benign |
Het |
Rexo1 |
A |
G |
10: 80,378,854 (GRCm39) |
Y1061H |
probably damaging |
Het |
Rgs3 |
A |
T |
4: 62,500,240 (GRCm39) |
I26F |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Rtkn |
A |
T |
6: 83,128,018 (GRCm39) |
N406Y |
possibly damaging |
Het |
Rtn4r |
A |
T |
16: 17,969,708 (GRCm39) |
I379F |
possibly damaging |
Het |
Sez6 |
G |
A |
11: 77,865,121 (GRCm39) |
E623K |
possibly damaging |
Het |
Slmap |
T |
C |
14: 26,137,355 (GRCm39) |
|
probably benign |
Het |
Sorl1 |
A |
T |
9: 41,975,050 (GRCm39) |
N519K |
possibly damaging |
Het |
Srebf2 |
A |
T |
15: 82,056,975 (GRCm39) |
I237F |
possibly damaging |
Het |
Szt2 |
T |
C |
4: 118,242,651 (GRCm39) |
S1479G |
possibly damaging |
Het |
Tbc1d24 |
C |
A |
17: 24,400,274 (GRCm39) |
E537* |
probably null |
Het |
Ttf1 |
T |
A |
2: 28,957,080 (GRCm39) |
I450K |
probably benign |
Het |
Ube2e2 |
A |
G |
14: 18,893,288 (GRCm38) |
S2P |
unknown |
Het |
Utp20 |
T |
C |
10: 88,611,180 (GRCm39) |
N1379S |
probably damaging |
Het |
Vmn2r25 |
C |
T |
6: 123,805,391 (GRCm39) |
V489I |
probably benign |
Het |
Wfdc8 |
C |
T |
2: 164,439,245 (GRCm39) |
R379H |
unknown |
Het |
Zeb2 |
C |
T |
2: 45,003,136 (GRCm39) |
|
probably benign |
Het |
Zfp3 |
C |
T |
11: 70,663,241 (GRCm39) |
T400I |
probably benign |
Het |
Zfp760 |
T |
C |
17: 21,941,932 (GRCm39) |
I369T |
possibly damaging |
Het |
|
Other mutations in Pcdha6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R3734:Pcdha6
|
UTSW |
18 |
37,102,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R3859:Pcdha6
|
UTSW |
18 |
37,102,984 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3875:Pcdha6
|
UTSW |
18 |
37,101,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R4446:Pcdha6
|
UTSW |
18 |
37,100,813 (GRCm39) |
missense |
probably benign |
0.28 |
R4647:Pcdha6
|
UTSW |
18 |
37,102,189 (GRCm39) |
missense |
probably damaging |
0.98 |
R4659:Pcdha6
|
UTSW |
18 |
37,102,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R4780:Pcdha6
|
UTSW |
18 |
37,102,906 (GRCm39) |
missense |
probably damaging |
1.00 |
R4839:Pcdha6
|
UTSW |
18 |
37,101,485 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4915:Pcdha6
|
UTSW |
18 |
37,101,510 (GRCm39) |
missense |
probably damaging |
1.00 |
R5011:Pcdha6
|
UTSW |
18 |
37,100,960 (GRCm39) |
missense |
probably damaging |
1.00 |
R5084:Pcdha6
|
UTSW |
18 |
37,102,016 (GRCm39) |
missense |
probably damaging |
1.00 |
R5090:Pcdha6
|
UTSW |
18 |
37,101,770 (GRCm39) |
missense |
probably benign |
0.15 |
R5189:Pcdha6
|
UTSW |
18 |
37,101,844 (GRCm39) |
missense |
probably damaging |
1.00 |
R5652:Pcdha6
|
UTSW |
18 |
37,101,889 (GRCm39) |
splice site |
probably null |
|
R5773:Pcdha6
|
UTSW |
18 |
37,102,643 (GRCm39) |
missense |
probably benign |
0.00 |
R5890:Pcdha6
|
UTSW |
18 |
37,102,121 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6135:Pcdha6
|
UTSW |
18 |
37,102,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R6276:Pcdha6
|
UTSW |
18 |
37,102,820 (GRCm39) |
splice site |
probably null |
|
R6346:Pcdha6
|
UTSW |
18 |
37,101,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R6889:Pcdha6
|
UTSW |
18 |
37,101,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R7295:Pcdha6
|
UTSW |
18 |
37,101,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R7776:Pcdha6
|
UTSW |
18 |
37,103,034 (GRCm39) |
missense |
probably benign |
0.27 |
R7944:Pcdha6
|
UTSW |
18 |
37,101,965 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7950:Pcdha6
|
UTSW |
18 |
37,102,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Pcdha6
|
UTSW |
18 |
37,102,920 (GRCm39) |
nonsense |
probably null |
|
R8513:Pcdha6
|
UTSW |
18 |
37,102,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R8549:Pcdha6
|
UTSW |
18 |
37,101,594 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8735:Pcdha6
|
UTSW |
18 |
37,101,203 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8827:Pcdha6
|
UTSW |
18 |
37,102,802 (GRCm39) |
missense |
probably damaging |
1.00 |
R8881:Pcdha6
|
UTSW |
18 |
37,101,484 (GRCm39) |
missense |
probably damaging |
1.00 |
R9357:Pcdha6
|
UTSW |
18 |
37,102,226 (GRCm39) |
missense |
probably benign |
0.16 |
Z1088:Pcdha6
|
UTSW |
18 |
37,102,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGGACAGAGAGGATGCTC -3'
(R):5'- CTAAAACAGTGCAATGGCCC -3'
Sequencing Primer
(F):5'- GCTCCTGAGCATAAGCTA -3'
(R):5'- CGCATCAACGTGGATTTTGTAGAC -3'
|
Posted On |
2021-12-30 |