Incidental Mutation 'R8881:Pcdha6'
ID |
676950 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha6
|
Ensembl Gene |
ENSMUSG00000103707 |
Gene Name |
protocadherin alpha 6 |
Synonyms |
Cnr2, Crnr2 |
MMRRC Submission |
068749-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.156)
|
Stock # |
R8881 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
37100684-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 37101484 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 226
(V226F)
|
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: V226F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141587 Gene: ENSMUSG00000103707 AA Change: V226F
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: V226F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000141459 Gene: ENSMUSG00000103707 AA Change: V226F
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 |
|
Meta Mutation Damage Score |
0.4511 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (69/69) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
G |
A |
7: 120,074,794 (GRCm39) |
C612Y |
probably benign |
Het |
Adam21 |
T |
C |
12: 81,606,650 (GRCm39) |
T371A |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,011,279 (GRCm39) |
S661P |
|
Het |
Anxa11 |
C |
T |
14: 25,874,687 (GRCm39) |
R233C |
probably damaging |
Het |
Capza3 |
A |
C |
6: 139,987,521 (GRCm39) |
D40A |
probably damaging |
Het |
Caskin1 |
C |
A |
17: 24,718,273 (GRCm39) |
N294K |
probably damaging |
Het |
Cdh1 |
T |
C |
8: 107,392,904 (GRCm39) |
V796A |
probably benign |
Het |
Cfap251 |
C |
T |
5: 123,462,438 (GRCm39) |
P1249L |
probably damaging |
Het |
Cped1 |
A |
T |
6: 22,119,578 (GRCm39) |
T346S |
possibly damaging |
Het |
Crisp4 |
A |
T |
1: 18,185,902 (GRCm39) |
V278D |
probably damaging |
Het |
Ddx60 |
A |
C |
8: 62,474,343 (GRCm39) |
D1477A |
possibly damaging |
Het |
Dmrtb1 |
T |
C |
4: 107,537,922 (GRCm39) |
D82G |
possibly damaging |
Het |
Dnah11 |
T |
C |
12: 118,077,647 (GRCm39) |
N1282S |
probably benign |
Het |
Dnah11 |
C |
T |
12: 118,090,550 (GRCm39) |
V1104M |
probably benign |
Het |
Dot1l |
A |
G |
10: 80,621,429 (GRCm39) |
E630G |
probably damaging |
Het |
Dppa4 |
C |
A |
16: 48,108,299 (GRCm39) |
T28K |
|
Het |
Dusp5 |
T |
A |
19: 53,529,745 (GRCm39) |
S383T |
probably benign |
Het |
Eef2k |
C |
T |
7: 120,472,548 (GRCm39) |
A87V |
probably damaging |
Het |
Epha1 |
T |
C |
6: 42,337,961 (GRCm39) |
Y828C |
probably damaging |
Het |
Erbb4 |
A |
C |
1: 68,382,997 (GRCm39) |
|
probably null |
Het |
Fam151b |
T |
A |
13: 92,604,630 (GRCm39) |
M120L |
probably benign |
Het |
Fam237b |
A |
C |
5: 5,625,379 (GRCm39) |
D25A |
possibly damaging |
Het |
Fez2 |
T |
C |
17: 78,689,051 (GRCm39) |
D366G |
probably damaging |
Het |
Frmd4b |
G |
T |
6: 97,272,735 (GRCm39) |
H886N |
probably benign |
Het |
Galnt17 |
T |
C |
5: 130,906,635 (GRCm39) |
H511R |
probably benign |
Het |
Grpel1 |
C |
A |
5: 36,626,816 (GRCm39) |
Q33K |
possibly damaging |
Het |
Gzmm |
A |
C |
10: 79,530,819 (GRCm39) |
|
probably null |
Het |
Hmcn1 |
C |
A |
1: 150,525,723 (GRCm39) |
L3333F |
probably damaging |
Het |
Il21r |
A |
T |
7: 125,231,498 (GRCm39) |
T309S |
probably benign |
Het |
Itgal |
G |
A |
7: 126,929,541 (GRCm39) |
V1153M |
probably benign |
Het |
Kdf1 |
G |
A |
4: 133,257,654 (GRCm39) |
A390T |
possibly damaging |
Het |
Lcn11 |
G |
T |
2: 25,669,296 (GRCm39) |
R151L |
probably benign |
Het |
Lgi3 |
T |
A |
14: 70,770,282 (GRCm39) |
Y116N |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,743,866 (GRCm39) |
H731R |
probably benign |
Het |
Lrp5 |
A |
T |
19: 3,641,015 (GRCm39) |
S1482T |
probably damaging |
Het |
Meis2 |
T |
C |
2: 115,889,116 (GRCm39) |
D212G |
probably benign |
Het |
Mrgpra9 |
A |
G |
7: 46,885,242 (GRCm39) |
C142R |
possibly damaging |
Het |
Mrgprf |
A |
G |
7: 144,861,999 (GRCm39) |
H187R |
probably benign |
Het |
Mvd |
A |
G |
8: 123,164,564 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,096,999 (GRCm39) |
I4938M |
possibly damaging |
Het |
Nipal4 |
A |
T |
11: 46,042,177 (GRCm39) |
M168K |
probably benign |
Het |
Nr1h4 |
A |
G |
10: 89,319,351 (GRCm39) |
Y158H |
probably damaging |
Het |
Nrxn2 |
T |
C |
19: 6,554,920 (GRCm39) |
I1133T |
probably benign |
Het |
Numa1 |
T |
C |
7: 101,650,684 (GRCm39) |
Y1472H |
probably benign |
Het |
Or10ak8 |
A |
G |
4: 118,774,571 (GRCm39) |
V31A |
probably benign |
Het |
Or12j3 |
A |
G |
7: 139,952,698 (GRCm39) |
V275A |
probably benign |
Het |
Or2y10 |
G |
A |
11: 49,455,209 (GRCm39) |
V154M |
probably benign |
Het |
Or3a1d |
T |
C |
11: 74,237,471 (GRCm39) |
D313G |
probably benign |
Het |
Or52h7 |
A |
G |
7: 104,213,619 (GRCm39) |
M64V |
possibly damaging |
Het |
Pate7 |
T |
A |
9: 35,689,384 (GRCm39) |
|
probably benign |
Het |
Pnpla6 |
G |
A |
8: 3,581,489 (GRCm39) |
M605I |
probably benign |
Het |
Ppp1r13l |
G |
A |
7: 19,105,194 (GRCm39) |
R322H |
probably damaging |
Het |
Sgtb |
T |
C |
13: 104,258,046 (GRCm39) |
|
probably null |
Het |
Skint6 |
T |
C |
4: 112,672,716 (GRCm39) |
K1086E |
possibly damaging |
Het |
Slc4a11 |
T |
C |
2: 130,527,457 (GRCm39) |
E646G |
probably damaging |
Het |
Speg |
G |
T |
1: 75,377,795 (GRCm39) |
R851L |
possibly damaging |
Het |
Spns3 |
T |
G |
11: 72,429,912 (GRCm39) |
D172A |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,700,098 (GRCm39) |
V984A |
probably benign |
Het |
Syne1 |
A |
T |
10: 5,223,639 (GRCm39) |
D3080E |
probably damaging |
Het |
Taf5l |
T |
C |
8: 124,730,101 (GRCm39) |
H196R |
possibly damaging |
Het |
Tmem229a |
G |
C |
6: 24,955,587 (GRCm39) |
R56G |
probably damaging |
Het |
Tmprss6 |
A |
C |
15: 78,327,987 (GRCm39) |
*582G |
probably null |
Het |
Trip13 |
C |
A |
13: 74,077,795 (GRCm39) |
R173L |
possibly damaging |
Het |
Trpm7 |
A |
T |
2: 126,661,883 (GRCm39) |
V1055E |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,423,737 (GRCm39) |
I2T |
possibly damaging |
Het |
V1rd19 |
T |
A |
7: 23,703,081 (GRCm39) |
S182R |
possibly damaging |
Het |
Vmn2r58 |
C |
A |
7: 41,486,609 (GRCm39) |
G762V |
probably benign |
Het |
Zfp874b |
T |
C |
13: 67,622,141 (GRCm39) |
K386E |
probably 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 |
R9094:Pcdha6
|
UTSW |
18 |
37,101,593 (GRCm39) |
missense |
probably damaging |
0.98 |
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'- TCTTTGTTTCCACTAGAGGGC -3'
(R):5'- GGCACCAGTCTATTAAAAGAGTACG -3'
Sequencing Primer
(F):5'- TTTCCACTAGAGGGCGCATCAG -3'
(R):5'- GAGTACGAAATTGCTGAATTCGTCCC -3'
|
Posted On |
2021-07-15 |