Incidental Mutation 'R7944:Pcdha6'
ID |
649259 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pcdha6
|
Ensembl Gene |
ENSMUSG00000103707 |
Gene Name |
protocadherin alpha 6 |
Synonyms |
Cnr2, Crnr2 |
MMRRC Submission |
045990-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R7944 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
37100684-37320710 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 37101965 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Asparagine
at position 386
(T386N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141587
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000193777]
[ENSMUST00000192631]
[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 |
possibly damaging
Transcript: ENSMUST00000193777
AA Change: T386N
PolyPhen 2
Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000141587 Gene: ENSMUSG00000103707 AA Change: T386N
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: 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
AA Change: T386N
PolyPhen 2
Score 0.162 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000141459 Gene: ENSMUSG00000103707 AA Change: T386N
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: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adprhl1 |
T |
A |
8: 13,271,929 (GRCm39) |
R1610W |
probably damaging |
Het |
Aig1 |
A |
T |
10: 13,744,417 (GRCm39) |
M29K |
probably damaging |
Het |
Alms1 |
A |
T |
6: 85,618,362 (GRCm39) |
I2334F |
probably benign |
Het |
Ano6 |
A |
G |
15: 95,839,190 (GRCm39) |
Y423C |
probably damaging |
Het |
Arap3 |
T |
C |
18: 38,122,232 (GRCm39) |
M619V |
probably benign |
Het |
Armh4 |
T |
A |
14: 50,010,670 (GRCm39) |
T346S |
probably benign |
Het |
Asb13 |
T |
A |
13: 3,699,413 (GRCm39) |
F204L |
probably damaging |
Het |
Btaf1 |
T |
C |
19: 36,926,565 (GRCm39) |
V79A |
probably benign |
Het |
Casp8ap2 |
A |
G |
4: 32,645,909 (GRCm39) |
T1661A |
probably benign |
Het |
Ccna1 |
G |
T |
3: 54,958,010 (GRCm39) |
T165K |
possibly damaging |
Het |
Cdc42ep1 |
T |
A |
15: 78,731,973 (GRCm39) |
S139R |
possibly damaging |
Het |
Chil3 |
A |
C |
3: 106,057,464 (GRCm39) |
Y233* |
probably null |
Het |
Clec1a |
T |
C |
6: 129,409,150 (GRCm39) |
S159G |
probably benign |
Het |
Cltc |
A |
T |
11: 86,627,967 (GRCm39) |
N60K |
probably benign |
Het |
Dlgap4 |
T |
A |
2: 156,591,054 (GRCm39) |
Y747N |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,266,163 (GRCm39) |
N2244S |
probably benign |
Het |
Ephb3 |
A |
G |
16: 21,040,434 (GRCm39) |
T811A |
probably damaging |
Het |
Fbxo21 |
T |
C |
5: 118,146,212 (GRCm39) |
Y612H |
possibly damaging |
Het |
Gale |
T |
C |
4: 135,692,982 (GRCm39) |
L75P |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,734,466 (GRCm39) |
S1279P |
probably benign |
Het |
Hdgfl3 |
T |
C |
7: 81,583,706 (GRCm39) |
Y22C |
possibly damaging |
Het |
Hmx3 |
T |
G |
7: 131,146,111 (GRCm39) |
I273S |
probably damaging |
Het |
Hpse2 |
T |
C |
19: 43,373,248 (GRCm39) |
N127S |
probably benign |
Het |
Hsf2bp |
C |
T |
17: 32,226,743 (GRCm39) |
R204H |
probably damaging |
Het |
Ifit1bl1 |
T |
A |
19: 34,571,224 (GRCm39) |
H411L |
probably benign |
Het |
Krtap27-1 |
T |
C |
16: 88,468,340 (GRCm39) |
N68S |
probably benign |
Het |
Ltbp1 |
T |
G |
17: 75,697,546 (GRCm39) |
*1713G |
probably null |
Het |
Lypd6b |
A |
G |
2: 49,833,612 (GRCm39) |
E84G |
probably damaging |
Het |
Meiosin |
T |
A |
7: 18,834,011 (GRCm39) |
K508N |
unknown |
Het |
Mrgprx2 |
T |
C |
7: 48,132,753 (GRCm39) |
T22A |
probably benign |
Het |
Mrto4 |
T |
C |
4: 139,077,000 (GRCm39) |
Y39C |
probably benign |
Het |
Mtmr4 |
T |
C |
11: 87,495,254 (GRCm39) |
V437A |
probably damaging |
Het |
Mylk4 |
T |
C |
13: 32,911,096 (GRCm39) |
T221A |
probably benign |
Het |
Neb |
T |
C |
2: 52,161,360 (GRCm39) |
D2144G |
probably damaging |
Het |
Nup210 |
T |
G |
6: 91,050,179 (GRCm39) |
D430A |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,984,235 (GRCm39) |
E1740V |
probably damaging |
Het |
Or8i2 |
A |
G |
2: 86,852,657 (GRCm39) |
V77A |
probably benign |
Het |
Panx1 |
A |
G |
9: 14,919,125 (GRCm39) |
C245R |
probably damaging |
Het |
Pcsk1 |
G |
A |
13: 75,280,211 (GRCm39) |
A679T |
probably benign |
Het |
Pdzph1 |
T |
C |
17: 59,239,455 (GRCm39) |
T958A |
probably damaging |
Het |
Pkd2l2 |
T |
A |
18: 34,560,481 (GRCm39) |
Y363N |
possibly damaging |
Het |
Plekha5 |
T |
A |
6: 140,526,201 (GRCm39) |
H946Q |
possibly damaging |
Het |
Rhbg |
A |
G |
3: 88,155,007 (GRCm39) |
L168P |
probably benign |
Het |
Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
Rtn2 |
T |
A |
7: 19,020,987 (GRCm39) |
S153R |
probably benign |
Het |
Serpinb1a |
C |
A |
13: 33,034,239 (GRCm39) |
A51S |
probably benign |
Het |
Serpinb6e |
T |
A |
13: 34,016,588 (GRCm39) |
T382S |
probably damaging |
Het |
Sgip1 |
T |
G |
4: 102,772,298 (GRCm39) |
M229R |
probably benign |
Het |
Slc1a5 |
C |
A |
7: 16,523,807 (GRCm39) |
R271S |
possibly damaging |
Het |
Slc23a3 |
A |
G |
1: 75,106,040 (GRCm39) |
|
probably null |
Het |
Slc7a6 |
C |
T |
8: 106,906,239 (GRCm39) |
P157L |
possibly damaging |
Het |
Spsb1 |
T |
C |
4: 149,990,903 (GRCm39) |
I222V |
probably benign |
Het |
Syne2 |
A |
T |
12: 75,951,079 (GRCm39) |
E410V |
probably damaging |
Het |
Trappc3 |
T |
C |
4: 126,168,999 (GRCm39) |
I163T |
probably damaging |
Het |
Treh |
T |
C |
9: 44,592,584 (GRCm39) |
V63A |
probably damaging |
Het |
Ttc6 |
T |
G |
12: 57,707,229 (GRCm39) |
L712R |
possibly damaging |
Het |
Ttn |
G |
T |
2: 76,715,309 (GRCm39) |
Q7928K |
unknown |
Het |
Tuft1 |
G |
A |
3: 94,539,909 (GRCm39) |
P159S |
probably benign |
Het |
Vmn2r108 |
T |
C |
17: 20,691,890 (GRCm39) |
H211R |
probably damaging |
Het |
Wapl |
T |
C |
14: 34,399,105 (GRCm39) |
I58T |
probably benign |
Het |
Zfp78 |
C |
T |
7: 6,381,589 (GRCm39) |
T213I |
possibly damaging |
Het |
Zmat4 |
T |
A |
8: 24,238,436 (GRCm39) |
I6N |
possibly damaging |
Het |
Zp3r |
G |
T |
1: 130,524,560 (GRCm39) |
P226Q |
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 |
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 |
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'- CGTTGATGCGACGGACAAAG -3'
(R):5'- AGGCGCATTGTCGTTCACATC -3'
Sequencing Primer
(F):5'- AAGGACACCCTCCGATGG -3'
(R):5'- GTCGTTCACATCGGCCAC -3'
|
Posted On |
2020-09-15 |