Incidental Mutation 'R5887:Pcdha7'
| ID |
456189 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdha7
|
| Ensembl Gene |
ENSMUSG00000104318 |
| Gene Name |
protocadherin alpha 7 |
| Synonyms |
Crnr4, Cnr4 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R5887 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
37106864-37320716 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37108960 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 662
(T662S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142156
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070797]
[ENSMUST00000115661]
[ENSMUST00000115662]
[ENSMUST00000192168]
[ENSMUST00000192295]
[ENSMUST00000192503]
[ENSMUST00000192512]
[ENSMUST00000192631]
[ENSMUST00000193389]
[ENSMUST00000193839]
[ENSMUST00000194544]
[ENSMUST00000194751]
[ENSMUST00000193777]
[ENSMUST00000195590]
|
| AlphaFold |
Q91Y13 |
| 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: ENSMUST00000192631
AA Change: T662S
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318
AA Change: T662S
| 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 |
noncoding transcript
Transcript: ENSMUST00000194501
|
| 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: 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: 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: 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: 99.8%
- 3x: 99.4%
- 10x: 97.2%
- 20x: 91.0%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,892,124 (GRCm39) |
Q129* |
probably null |
Het |
| Acad8 |
A |
T |
9: 26,890,620 (GRCm39) |
|
probably null |
Het |
| AK157302 |
T |
C |
13: 21,679,579 (GRCm39) |
I35T |
possibly damaging |
Het |
| Arfgef3 |
G |
T |
10: 18,483,413 (GRCm39) |
S1437* |
probably null |
Het |
| Calcrl |
A |
T |
2: 84,200,841 (GRCm39) |
W68R |
probably damaging |
Het |
| Cd200l1 |
T |
A |
16: 45,238,279 (GRCm39) |
L178F |
probably damaging |
Het |
| Cd59a |
A |
G |
2: 103,934,546 (GRCm39) |
R5G |
probably damaging |
Het |
| Chl1 |
C |
T |
6: 103,694,565 (GRCm39) |
A1091V |
probably benign |
Het |
| Copg1 |
T |
C |
6: 87,879,279 (GRCm39) |
F442L |
probably damaging |
Het |
| Creld1 |
T |
C |
6: 113,469,860 (GRCm39) |
*421Q |
probably null |
Het |
| Crocc2 |
T |
A |
1: 93,121,838 (GRCm39) |
H662Q |
possibly damaging |
Het |
| Csf2ra |
G |
A |
19: 61,215,766 (GRCm39) |
A13V |
possibly damaging |
Het |
| Cul3 |
T |
C |
1: 80,254,139 (GRCm39) |
T546A |
possibly damaging |
Het |
| Dnah8 |
C |
T |
17: 31,013,691 (GRCm39) |
P3811S |
probably damaging |
Het |
| Dock6 |
T |
A |
9: 21,731,690 (GRCm39) |
H1173L |
probably damaging |
Het |
| Dpysl4 |
T |
C |
7: 138,676,192 (GRCm39) |
I328T |
possibly damaging |
Het |
| Dspp |
G |
A |
5: 104,323,321 (GRCm39) |
G155R |
probably damaging |
Het |
| Fbxo33 |
A |
T |
12: 59,251,545 (GRCm39) |
C57* |
probably null |
Het |
| Frrs1 |
T |
A |
3: 116,690,399 (GRCm39) |
V14D |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,113 (GRCm39) |
G96S |
unknown |
Het |
| Gpr155 |
A |
T |
2: 73,174,062 (GRCm39) |
C754* |
probably null |
Het |
| Gpr62 |
A |
T |
9: 106,342,814 (GRCm39) |
V38E |
probably damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,353,104 (GRCm39) |
P271H |
probably damaging |
Het |
| Kpna3 |
C |
T |
14: 61,640,461 (GRCm39) |
V34I |
probably benign |
Het |
| Lamb1 |
C |
T |
12: 31,316,863 (GRCm39) |
Q71* |
probably null |
Het |
| Lipk |
T |
C |
19: 34,016,507 (GRCm39) |
I245T |
possibly damaging |
Het |
| Lrp1b |
T |
G |
2: 40,711,719 (GRCm39) |
N3281T |
possibly damaging |
Het |
| Lrp5 |
A |
C |
19: 3,654,094 (GRCm39) |
I1111S |
probably benign |
Het |
| Mmrn1 |
T |
C |
6: 60,964,058 (GRCm39) |
V1020A |
probably benign |
Het |
| Or4c107 |
G |
A |
2: 88,789,098 (GRCm39) |
C96Y |
possibly damaging |
Het |
| Or8b48 |
G |
A |
9: 38,493,080 (GRCm39) |
C169Y |
probably damaging |
Het |
| Or8g34 |
T |
C |
9: 39,372,787 (GRCm39) |
L17P |
probably damaging |
Het |
| Pcdhga6 |
A |
G |
18: 37,841,612 (GRCm39) |
D444G |
probably damaging |
Het |
| Pkd2 |
T |
G |
5: 104,646,405 (GRCm39) |
D737E |
probably damaging |
Het |
| Plcd4 |
C |
T |
1: 74,590,249 (GRCm39) |
R161W |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,391,734 (GRCm39) |
Y1494C |
possibly damaging |
Het |
| Rad17 |
A |
C |
13: 100,770,369 (GRCm39) |
|
probably null |
Het |
| Rbm17 |
A |
T |
2: 11,590,485 (GRCm39) |
F390Y |
probably damaging |
Het |
| Rhod |
A |
T |
19: 4,489,315 (GRCm39) |
L22Q |
probably damaging |
Het |
| Serpina1f |
T |
C |
12: 103,656,046 (GRCm39) |
D394G |
possibly damaging |
Het |
| Serpina1f |
G |
A |
12: 103,659,890 (GRCm39) |
Q131* |
probably null |
Het |
| Spocd1 |
A |
T |
4: 129,842,752 (GRCm39) |
S56C |
probably damaging |
Het |
| St7l |
G |
A |
3: 104,782,244 (GRCm39) |
R207H |
probably benign |
Het |
| Tasor |
T |
A |
14: 27,188,254 (GRCm39) |
L900* |
probably null |
Het |
| Tbx18 |
T |
C |
9: 87,595,566 (GRCm39) |
D336G |
possibly damaging |
Het |
| Tfg |
A |
T |
16: 56,514,779 (GRCm39) |
Y135* |
probably null |
Het |
| Tjp2 |
A |
G |
19: 24,073,963 (GRCm39) |
L1108P |
probably benign |
Het |
| Tmem150c |
C |
A |
5: 100,243,524 (GRCm39) |
V8L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,746,789 (GRCm39) |
H4753Q |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,354,540 (GRCm39) |
I589N |
probably damaging |
Het |
| Usp40 |
C |
T |
1: 87,927,592 (GRCm39) |
R139Q |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,378,414 (GRCm39) |
Y174C |
probably damaging |
Het |
|
| Other mutations in Pcdha7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2511:Pcdha7
|
UTSW |
18 |
37,107,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3881:Pcdha7
|
UTSW |
18 |
37,108,432 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4212:Pcdha7
|
UTSW |
18 |
37,108,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4533:Pcdha7
|
UTSW |
18 |
37,108,460 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R4608:Pcdha7
|
UTSW |
18 |
37,108,870 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4766:Pcdha7
|
UTSW |
18 |
37,107,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4808:Pcdha7
|
UTSW |
18 |
37,107,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4897:Pcdha7
|
UTSW |
18 |
37,108,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5030:Pcdha7
|
UTSW |
18 |
37,108,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5173:Pcdha7
|
UTSW |
18 |
37,107,705 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5333:Pcdha7
|
UTSW |
18 |
37,107,619 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5342:Pcdha7
|
UTSW |
18 |
37,107,724 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5463:Pcdha7
|
UTSW |
18 |
37,108,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5536:Pcdha7
|
UTSW |
18 |
37,108,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5848:Pcdha7
|
UTSW |
18 |
37,108,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5858:Pcdha7
|
UTSW |
18 |
37,109,279 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6115:Pcdha7
|
UTSW |
18 |
37,107,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6496:Pcdha7
|
UTSW |
18 |
37,107,638 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6522:Pcdha7
|
UTSW |
18 |
37,106,995 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6653:Pcdha7
|
UTSW |
18 |
37,107,539 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6815:Pcdha7
|
UTSW |
18 |
37,108,174 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7313:Pcdha7
|
UTSW |
18 |
37,107,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Pcdha7
|
UTSW |
18 |
37,109,285 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7520:Pcdha7
|
UTSW |
18 |
37,108,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7857:Pcdha7
|
UTSW |
18 |
37,108,892 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7939:Pcdha7
|
UTSW |
18 |
37,109,063 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8229:Pcdha7
|
UTSW |
18 |
37,107,776 (GRCm39) |
nonsense |
probably null |
|
|
R9592:Pcdha7
|
UTSW |
18 |
37,109,045 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9711:Pcdha7
|
UTSW |
18 |
37,107,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pcdha7
|
UTSW |
18 |
37,108,893 (GRCm39) |
missense |
probably benign |
0.14 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTATCAAGAGCTTTGGTGCCTG -3'
(R):5'- TCTGCTGCGAGTATGACCAG -3'
Sequencing Primer
(F):5'- CCGTAGATGAGGACTCTGGATAC -3'
(R):5'- TGGAGCACACCAGCATG -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation